부산대학교 도서관

Oja KT; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Ilisson M; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Reinson K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Muru K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Reimand T; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Peterson H; Institute of Computer Science, Faculty of Science and Technology, University of Tartu, Tartu, Estonia.; Fishman D; Institute of Computer Science, Faculty of Science and Technology, University of Tartu, Tartu, Estonia.; STACC OÜ, Tartu, Estonia.; Haller T; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Kronberg J; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Estonian Biobank Research Team; Estonian Genome Centre, Institute of Genomics, University of Tartu, Tartu, Estonia.; Wojcik MH; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.; Division of Newborn Medicine, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.; Kennedy AD; Metabolon, Morrisville, NC, United States.; Sommerville L; Metabolon, Morrisville, NC, United States.; Michelotti G; Metabolon, Morrisville, NC, United States.; O'Donnell-Luria A; Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, United States.; Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Boston, MA, United States.; Õiglane-Shlik E; Department of Pediatrics, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Pajusalu S; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.

Publisher: Frontiers Research Foundation Country of Publication: Switzerland NLM ID: 101546899 Publication Model: eCollection Cited Medium: Print ISSN: 1664-2295 (Print) Linking ISSN: 16642295 NLM ISO Abbreviation: Front Neurol Subsets: PubMed not MEDLINE

Rots, D.; Rooney, K.; Relator, R.; Kerkhof, J.; McConkey, H.; Pfundt, R.P.; Marcelis, C.L.M.; Willemsen, M.H.; van Hagen, J.M.; Zwijnenburg, P.; Alders, M.; Õunap, K.; Reimand, T.; Fjodorova, O.; Berland, S.; Liahjell, E.B.; Bojovic, O.; Kriek, M.; Ruivenkamp, C.; Bonati, M.T.; Brunner, H.G.; Vissers, L.E.L.M.; Sadikovic, B.; Kleefstra, T.

Rots, D, Rooney, K, Relator, R, Kerkhof, J, McConkey, H, Pfundt, R, Marcelis, C, Willemsen, M H, van Hagen, J M, Zwijnenburg, P, Alders, M, Õunap, K, Reimand, T, Fjodorova, O, Berland, S, Liahjell, E B, Bojovic, O, Kriek, M, Ruivenkamp, C, Bonati, M T, Brunner, H G, Vissers, L E L M, Sadikovic, B & Kleefstra, T 2024, 'Refining the 9q34.3 microduplication syndrome reveals mild neurodevelopmental features associated with a distinct global DNA methylation profile', Clinical Genetics, vol. 105, no. 6, pp. 655-660. https://doi.org/10.1111/cge.14498
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Clinical Genetics

Karwacki-Neisius, V; Jang, A; Cukuroglu, E; Tai, A; Jiao, A; Predes, D; Yoon, J; Brookes, E; Chen, J; Iberg, A; Halbritter, F; Õunap, K; Gecz, J; Schlaeger, TM; Ho Sui, S; Göke, J; He, X; Lehtinen, MK; Pomeroy, SL; Shi, Y

Nature

M. Tooming; P. Mertsina; T. Kahre; R. Teek; I. Vainumäe; S. Lilles; M. H. Wojcik; P. Ilves; K. Õunap

Frontiers in Genetics, Vol 15 (2025)

Mauring, L. ; Puusepp, S. ; Parik, M. ; Roomets, E. ; Teek, R. ; Reimand, T. ; Pajusalu, S. ; Kaljurand, K. ; Õunap, K.

In European Journal of Medical Genetics September 2023 66(9)

Gómez-Andrés D; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Costa-Comellas L; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Díaz-Manera J; The John Walton Muscular Dystrophy Research Center, Newcastle University, Newcastle upon Tyne NHS Trust, Newcastle upon Tyne, UK.; Neuromuscular Disorders Laboratory, Institut de Recerca de l'Hospital de la Santa Creu i Sant Pau, Barcelona, Spain.; Centro de Investigación Biomédica en red en Enfermedades Raras (CIBERER), Barcelona, Spain.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, Faculty of Medicine, University of Tartu, Tartu, Estonia.; Álvarez-Molinero M; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Urcuyo G; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Savarese M; Folkhalsan Research Center, Helsinki University, Helsinki, Finland.; Munell F; Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Department of Pediatrics, Universitat Autònoma de Barcelona, Barcelona, Spain.; Udd B; Folkhalsan Research Center, Helsinki University, Helsinki, Finland.; Tampere Neuromuscular Center, University Hospital, Tampere, Finland.

Publisher: Wiley Country of Publication: England NLM ID: 9506311 Publication Model: Print Cited Medium: Internet ISSN: 1468-1331 (Electronic) Linking ISSN: 13515101 NLM ISO Abbreviation: Eur J Neurol Subsets: MEDLINE

He W; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia. weixiong.he@uq.net.au.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia. weixiong.he@uq.net.au.; van der Most PJ; Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Ong JS; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; Hwang LD; Institute for Molecular Bioscience, University of Queensland, Brisbane, QLD, Australia.; Wu Y; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; Magnø MS; Department of Ophthalmology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Department of Ophthalmology, Sørlandet Hospital Arendal, Arendal, Norway.; Department of Medical Biochemistry, Oslo University Hospital, Oslo, Norway.; Vehof J; Department of Twin Research and Genetic Epidemiology, King's College London, London, UK.; Department of Ophthalmology, University of Groningen, Groningen, The Netherlands.; Department of Ophthalmology, Vestfold Hospital Trust, Tønsberg, Norway.; Krebs K; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.; Mauring L; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Eye Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Abner E; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.; Martin NG; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; Plotnikov D; Central Research Laboratory, Kazan State Medical University, Kazan, Russia.; Jiang C; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA.; Melles RB; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA.; Gharahkhani P; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.; Snieder H; Department of Epidemiology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Palumaa T; Estonian Genome Center, Institute of Genomics, University of Tartu, Tartu, Estonia.; Eye Clinic, East Tallinn Central Hospital, Tallinn, Estonia.; Kaljurand K; Eye Clinic, Tartu University Hospital, Tartu, Estonia.; Department of Eye Clinic, Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Guggenheim JA; School of Optometry & Vision Sciences, Cardiff University, Cardiff, UK.; Mackey DA; Lions Eye Institute, Centre for Ophthalmology and Visual Science, University of Western Australia, Perth, WA, Australia.; Engle EC; Department of Ophthalmology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, USA.; Howard Hughes Medical Institute, Chevy Chase, MD, USA.; Choquet H; Division of Research, Kaiser Permanente Northern California, Oakland, CA, USA.; MacGregor S; QIMR Berghofer Medical Research Institute, Brisbane, QLD, Australia.; Faculty of Medicine, University of Queensland, Brisbane, QLD, Australia.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Andres, D. Gomez; Comellas, L. Costa; Díaz-Manera, J.; Õunap, K.; Álvarez-Molinero, M.; Urcuyo, G.; Savarese, M.; Munell, F.; Udd, B.

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Post, M.A.; de Wit, Isis; Zijlstra, F.S.M.; Engelke, U.F.H.; van Rooij, A.J.M.; Christodoulou, J.; Tan, T.Y.; Le Fevre, A.; Jin, D.; Yaplito-Lee, J.; Lee, B.H.; Low, K.J.; Mallick, A.A.; Õunap, K.; Pitt, J.; Reardon, W.; Vals, M.A.; Wortmann, S.B.; Wessels, H.J.C.T.; Barenfanger, M.; van Karnebeek, C.D.M.; Lefeber, D.J.

Journal of Inherited Metabolic Disease, 46, 2, pp. 313-325
Post, M, de Wit, I, Zijlstra, F, Engelke, U, van Rooij, A, Christodoulou, J, Tan, T Y, Le Fevre, A, Jin, D, Yaplito-Lee, J, Lee, B H, Low, K J, Mallick, A A, Õunap, K, Pitt, J, Reardon, W, Vals, M-A, Wortmann, S, Wessels, H, Bärenfänger, M, van Karnebeek, C & Lefeber, D 2023, 'MOGS-CDG : Quantitative analysis of the diagnostic Glc3Man tetrasaccharide and clinical spectrum of six new cases', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325. https://doi.org/10.1002/jimd.12588
Post, M, de Wit, I, Zijlstra, F, Engelke, U, van Rooij, A, Christodoulou, J, Tan, T, Le Fevre, A, Jin, D, Yaplito-Lee, J, Lee, B, Low, K J, Mallick, A A, Õunap, K, Pitt, J, Reardon, W, Vals, M-A, Wortmann, S, Wessels, H, Bärenfänger, M, van Karnebeek, C & Lefeber, D 2023, ' MOGS-CDG: Quantitative analysis of the diagnostic Glc3 Man tetrasaccharide and clinical spectrum of six new cases ', Journal of Inherited Metabolic Disease, vol. 46, no. 2, pp. 313-325 . https://doi.org/10.1002/jimd.12588

Bonardi CM; Danish Epilepsy Centre, Member of ERN-EpiCARE, Dianalund, Denmark.; Department of Woman's and Child's Health, University Hospital of Padova, Padova, Italy.; Møller RS; Danish Epilepsy Centre, Member of ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Ruiz-Reig N; Université Catholique de Louvain, Institute of Neuroscience, Brussels, Belgium.; Chai G; Department of Neurology, Xuanwu Hospital, Capital Medical University, National Center for Neurological Disorders, Beijing, China.; Madsen CG; Centre for Functional and Diagnostic Imaging and Research, Hvidovre Hospital, Hvidovre, Denmark.; Bayat A; Danish Epilepsy Centre, Member of ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Hammer TB; Danish Epilepsy Centre, Member of ERN-EpiCARE, Dianalund, Denmark.; Clinical Genetic Department, Copenhagen University Hospital, Rigshospitalet, Copenhagen, Denmark.; Fenger CD; Danish Epilepsy Centre, Member of ERN-EpiCARE, Dianalund, Denmark.; Amplexa Genetics, Odense, Denmark.; Gardella E; Danish Epilepsy Centre, Member of ERN-EpiCARE, Dianalund, Denmark.; Department of Regional Health Research, University of Southern Denmark, Odense, Denmark.; Gawlinski P; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Dawidziuk M; Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland.; Wiszniewski W; Department of Molecular and Medical Genetics, Oregon Health and Science University, Portland, OR, USA.; Bekiesinska-Figatowska M; Department of Diagnostic Imaging, Institute of Mother and Child, Warsaw, Poland.; Cabet S; Pediatric and Fetal Imaging Department, Femme-Mere-Enfant hospital, Hospices Civils de Lyon, Lyon, France.; Rossi M; Genetics Department, Referral Centre for Developmental Abnormalities, Lyon University Hospital, ERN ITHACA, Bron, France.; INSERM U1028, CNRS UMR5292, Lyon Neuroscience Research Centre, GENDEV Team, Claude Bernard Lyon 1 University, Bron, France.; Lesca G; Department of Medical Genetics, University Hospital of Lyon and Claude Bernard Lyon I University, Lyon, France.; Pathophysiology and Genetics of Neuron and Muscle (PNMG), UCBL, CNRS UMR5261 - INSERM U1315, Lyon, France.; Gouy E; Genetics Department, Referral Centre for Developmental Abnormalities, Lyon University Hospital, ERN ITHACA, Bron, France.; University of Lyon, Université Claude Bernard Lyon 1, INSERM, CNRS, Institut NeuroMyogene, MéLis (CNRS UMR 5284 -INSERM U1314), Génétique et Neurobiologie de C. elegans, Lyon, France.; Jepsen B; Danish Epilepsy Centre, Member of ERN-EpiCARE, Dianalund, Denmark.; Mieszczanek TS; Danish Epilepsy Centre, Member of ERN-EpiCARE, Dianalund, Denmark.; Sanchez Russo R; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Barr EE; Department of Human Genetics, Emory University, Atlanta, GA, USA.; Õunap K; Department of Clinical Genetics, Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Ilves P; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Department of Radiology, Radiology Clinic of Tartu University Hospital, Tartu, Estonia.; Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Aittaleb M; Hamad Bin Khalifa University, College of Health and Life Sciences, LAS Building, Education City, Doha, Qatar.; Brusgaard K; Department of Clinical Genetics, Odense University Hospital, Odense, Denmark.; Clinical Institute, University of Southern Denmark, Odense, Denmark.; Tissir F; Université Catholique de Louvain, Institute of Neuroscience, Brussels, Belgium. ftissir@hbku.edu.qa.; Hamad Bin Khalifa University, College of Health and Life Sciences, LAS Building, Education City, Doha, Qatar. ftissir@hbku.edu.qa.; Rubboli G; Danish Epilepsy Centre, Member of ERN-EpiCARE, Dianalund, Denmark. guru@filadelfia.dk.; Institute of Clinical Medicine, University of Copenhagen, Copenhagen, Denmark. guru@filadelfia.dk.

Publisher: Nature Pub. Group Country of Publication: England NLM ID: 101528555 Publication Model: Electronic Cited Medium: Internet ISSN: 2041-1723 (Electronic) Linking ISSN: 20411723 NLM ISO Abbreviation: Nat Commun Subsets: MEDLINE

Lilles S; Children's Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Children's Clinic, Tartu University Hospital, European Reference Network EpiCARE, 50406 Tartu, Estonia.; Heidmets K; Children's Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Children's Clinic, Tartu University Hospital, European Reference Network EpiCARE, 50406 Tartu, Estonia.; Oja KT; Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Reinson K; Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Roht L; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Pajusalu S; Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA 02142, USA.; Õunap K; Genetics and Personalized Medicine Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Talvik I; Children's Clinic, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Tallinn Children's Hospital, European Reference Network EpiCARE, 13419 Tallinn, Estonia.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101551542 Publication Model: Electronic Cited Medium: Print ISSN: 2036-749X (Print) Linking ISSN: 2036749X NLM ISO Abbreviation: Pediatr Rep Subsets: PubMed not MEDLINE

Örd T; A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, P.O. Box 1627, Kuopio FI-70211, Finland.; Palani S; Turku PET Centre, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, Turku FI-20520, Finland.; Giroud Gerbetant J; Biosciences Department, University of Vic-Central University of Catalonia (UVic-UCC), Vic, Spain.; Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), Barcelona, Spain.; Institute for Research in Biomedicine (IRB Barcelona), the Barcelona Institute of Science and Technology (BIST), Barcelona 08028, Spain.; Bodoy S; Biosciences Department, University of Vic-Central University of Catalonia (UVic-UCC), Vic, Spain.; Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), Barcelona, Spain.; Institute for Research in Biomedicine (IRB Barcelona), the Barcelona Institute of Science and Technology (BIST), Barcelona 08028, Spain.; Lönnberg T; Turku Bioscience Centre, University of Turku and Åbo Akademi University, Turku FI-20520, Finland.; InFLAMES Research Flagship, University of Turku, Turku FI-20520, Finland.; Niskanen H; A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, P.O. Box 1627, Kuopio FI-70211, Finland.; Ravindran A; A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, P.O. Box 1627, Kuopio FI-70211, Finland.; Holappa L; A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, P.O. Box 1627, Kuopio FI-70211, Finland.; Chemaly M; Division of Vascular Surgery, Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden.; Taipale M; A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, P.O. Box 1627, Kuopio FI-70211, Finland.; Õunap K; A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, P.O. Box 1627, Kuopio FI-70211, Finland.; Haikonen R; A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, P.O. Box 1627, Kuopio FI-70211, Finland.; Talukdar H; Department of Medicine, Karolinska Institutet, Karolinska Universitetssjukhuset, Huddinge, Sweden.; Sukhavasi K; Department of Cardiac Surgery and the Heart Clinic, Tartu University Hospital and Department of Cardiology, Institute of Clinical Medicine, Tartu University, Tartu, Estonia.; Liljenbäck H; Turku PET Centre, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, Turku FI-20520, Finland.; Turku Center for Disease Modeling, University of Turku, Kiinamyllynkatu 10, Turku FI-20520, Finland.; Virta J; Turku PET Centre, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, Turku FI-20520, Finland.; Ruotsalainen AK; A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, P.O. Box 1627, Kuopio FI-70211, Finland.; Pierrot-Blanchet C; Institut National de la Santé et de la Recherche Médicale (Inserm) U1065, Université Côte d'Azur, Centre Méditerranéen de Médecine Moléculaire (C3M), Institute Hospitalo-Universitaire (IHU) RespirERA, Nice 06204, France.; Miner MWG; Turku PET Centre, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, Turku FI-20520, Finland.; Moisio O; Turku PET Centre, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, Turku FI-20520, Finland.; Rajala N; Turku PET Centre, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, Turku FI-20520, Finland.; Li XG; Turku PET Centre, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, Turku FI-20520, Finland.; InFLAMES Research Flagship, University of Turku, Turku FI-20520, Finland.; Department of Chemistry, University of Turku, Turku FI-20500, Finland.; Low PS; Department of Chemistry, Purdue University, West Lafayatte, IN, USA.; Saraste A; Turku PET Centre, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, Turku FI-20520, Finland.; Heart Center, Turku University Hospital and University of Turku, Turku FI-20520, Finland.; Heinäniemi M; Institute of Biomedicine, School of Medicine, University of Eastern Finland, Kuopio, Finland.; Ylä-Herttuala S; A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, P.O. Box 1627, Kuopio FI-70211, Finland.; Björkegren JLM; Department of Medicine, Karolinska Institutet, Karolinska Universitetssjukhuset, Huddinge, Sweden.; Clinical Gene Networks AB, Stockholm, Sweden.; Hedin U; Division of Vascular Surgery, Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden.; Matic L; Division of Vascular Surgery, Department of Molecular Medicine and Surgery, Karolinska University Hospital and Karolinska Institutet, Stockholm, Sweden.; Yvan-Charvet L; Institut National de la Santé et de la Recherche Médicale (Inserm) U1065, Université Côte d'Azur, Centre Méditerranéen de Médecine Moléculaire (C3M), Institute Hospitalo-Universitaire (IHU) RespirERA, Nice 06204, France.; Palacín M; Centro de Investigación Biomédica en Red Enfermedades Raras (CIBERER), Barcelona, Spain.; Institute for Research in Biomedicine (IRB Barcelona), the Barcelona Institute of Science and Technology (BIST), Barcelona 08028, Spain.; Department of Biochemistry and Molecular Biology, Faculty of Biology, University of Barcelona, Barcelona, Spain.; Roivainen A; Turku PET Centre, University of Turku and Turku University Hospital, Kiinamyllynkatu 4-8, Turku FI-20520, Finland.; InFLAMES Research Flagship, University of Turku, Turku FI-20520, Finland.; Turku Center for Disease Modeling, University of Turku, Kiinamyllynkatu 10, Turku FI-20520, Finland.; Kaikkonen MU; A. I. Virtanen Institute for Molecular Sciences, University of Eastern Finland, P.O. Box 1627, Kuopio FI-70211, Finland.

Publisher: Oxford Journals Country of Publication: England NLM ID: 0077427 Publication Model: Print Cited Medium: Internet ISSN: 1755-3245 (Electronic) Linking ISSN: 00086363 NLM ISO Abbreviation: Cardiovasc Res Subsets: MEDLINE

Bianca Panis; E. Naomi Vos; Ivo Barić; Annet M. Bosch; Martijn C. G. J. Brouwers; Alberto Burlina; David Cassiman; David J. Coman; María L. Couce; Anibh M. Das; Didem Demirbas; Aurélie Empain; Matthias Gautschi; Olga Grafakou; Stephanie Grunewald; Sandra D. K. Kingma; Ina Knerr; Elisa Leão-Teles; Dorothea Möslinger; Elaine Murphy; Katrin Õunap; Adriana Pané; Sabrina Paci; Rossella Parini; Isabel A. Rivera; Sabine Scholl-Bürgi; Ida V. D. Schwartz; Triantafyllia Sdogou; Loai A. Shakerdi; Anastasia Skouma; Karolina M. Stepien; Eileen P. Treacy; Susan Waisbren; Gerard T. Berry; M. Estela Rubio-Gozalbo

Frontiers in Genetics, Vol 15 (2024)

Laura Roht; Hanne K. Hyldebrandt; Astrid T. Stormorken; Hilde Nordgarden; Rolf H. Sijmons; Dennis K. Bos; Douglas Riegert‐Johnson; Sarah Mantia‐Macklin; Pilvi Ilves; Kai Muru; Monica H. Wojcik; Tiina Kahre; Katrin Õunap

Molecular Genetics & Genomic Medicine, Vol 11, Iss 6, Pp n/a-n/a (2023)

Nou-Fontanet L; Neurology Department, Coordinating Member of the ERN EpiCARE and ERN-RND Member, Barcelona Children's Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Ravelli C; Pediatric Neurology Department, Neurogenetic Reference Centre for Rare Neurological Diseases, Armand Trousseau Hospital APHP, Sorbonne Université, Paris, France.; Burglen L; Reference Center for Cerebellar Malformations and Congenital Diseases and Pediatric Neurogenetics Laboratory, Department of Genetics, AP-HP. Sorbonne University, Armand Trousseau Hospital, Paris, France.; Balsells Mejia S; Statistician, Sant Joan de Déu Research Foundation, University of Barcelona, Barcelona, Spain.; Valls-Villalba A; Internal Medicine Department, Vall d'Hebron University Hospital, Universitat Autonoma de Barcelona, Barcelona, Spain.; Schiffels ER; Statistician, Sant Joan de Déu Research Foundation, University of Barcelona, Barcelona, Spain.; Innocenti A; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of EpiCARE, Rome, Italy.; Villafuerte B; Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital Research Institute (IdiPAZ), Madrid, Spain.; Salazar-Villacorta A; Developmental Neurosciences Department, UCL GOS Institute of Child Health/Zayed Center for Research into Rare Disease in Children, London, UK.; Quiroz V; Pediatric Neurology Department, Boston Children's Hospital, Boston, Harvard Medical School, Boston, Massachusetts, USA.; Sariego Jamardo A; Pediatric Neurology Unit, Marques de Valdecilla University Hospital, Santander, Spain.; Bonato G; Parkinson and Movement Disorders Unit, Department of Neuroscience, Centre for Rare Neurological Diseases (ERN-RND), University of Padova, Padova, Italy.; Díaz-Gomez A; Pediatric Neurology Unit, Hospital de la Santa Creu i Sant Pau, Universitat Autònoma de Barcelona, Barcelona, Spain.; Afenjar A; Reference Center for Cerebellar Malformations and Congenital Diseases and Pediatric Neurogenetics Laboratory, Department of Genetics, AP-HP. Sorbonne University, Armand Trousseau Hospital, Paris, France.; Vilain C; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; da Silva Möller PD; Neurology Department, Jose Alencar Brasilia Children's Hospital, Brasilia, Brazil.; Garcia-Navas Nuñez D; Pediatric Neurology Unit, Cáceres University Hospital Complex, Cáceres, Spain.; Krygier M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, Budapest, Hungary.; Milanowski Ł; Neurology Department, Faculty of Health Sciences, Medical University of Warsaw, Warsaw, Poland.; Õunap K; Institute of Clinical Medicine, University of Tartu and Genetics and Personalized Medicine Clinic, Member of the ERN-ITHACA, Tartu University Hospital, Tartu, Estonia.; Pauni M; Pediatric Neurology Department, Italian Hospital of Buenos Aires, Buenos Aires, Argentina.; Vega P; Pediatric Neurology Department, Italian Hospital of Buenos Aires, Buenos Aires, Argentina.; Borie R; Université Paris Cité, UMR Inserm 1149, CRI, Hôpital Bichat, AP-HP, Service de Pneumologie Allergologie et Transplantation, Centre Constitutif du Centre de Référence des Maladies Pulmonaires Rares, FHU INFIRE, Paris, France.; Villamil-Osorio M; Pediatric Respiratory Department, Fundación Hospital Pediátrico la Misericordia HOMI, Bogotá, Colombia.; Yilmaz S; Pediatric Neurology Department, Ege University Medical Faculty, Izmir, Turkey.; Zádori D; Neurology Department, University of Szeged, Szeged, Hungary.; Zawadzka M; Department of Developmental Neurology, Medical University of Gdansk, Gdansk, Poland.; Barakat TS; Department of Clinical Genetics, Erasmus MC University Medical Center Rotterdam, Rotterdam, The Netherlands.; Neuens S; Department of Genetics, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; de Natera-de Benito D; Neurology Department, Coordinating Member of the ERN EpiCARE and ERN-RND Member, Barcelona Children's Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Casas-Alba D; Genetics Department, Barcelona Children's Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.; Soliani L; IRCCS Istituto delle Scienze Neurologiche di Bologna UOC Neuropsichiatria dell'età Pediatrica, Bologna, Italy.; de Gusmao CM; Pediatric Neurology Department, University of Sao Paulo, Sao Paulo, Brazil.; Deparment of Neurology, Division of Movement Disorders, Mass General Brigham, Harvard Medical School, Boston, USA.; Garone G; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of EpiCARE, Rome, Italy.; Specchio N; Neurology, Epilepsy and Movement Disorders Unit, Bambino Gesù Children's Hospital, IRCCS, Full Member of EpiCARE, Rome, Italy.; Carecchio M; Parkinson and Movement Disorders Unit, Department of Neuroscience, Centre for Rare Neurological Diseases (ERN-RND), University of Padova, Padova, Italy.; Moreno JC; Thyroid Molecular Laboratory, Institute for Medical and Molecular Genetics (INGEMM), La Paz University Hospital Research Institute (IdiPAZ), Madrid, Spain.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Ebrahimi-Fakhari D; Pediatric Neurology Department, Boston Children's Hospital, Boston, Harvard Medical School, Boston, Massachusetts, USA.; Castiglioni C; Pediatric Neurology Department, Clinica Meds Santiago, Santiago, Chile.; Faculty of Medicine, Finis Terrae University, Santiago, Chile.; Kurian MA; Developmental Neurosciences Department, UCL GOS Institute of Child Health/Zayed Center for Research into Rare Disease in Children, London, UK.; Carvalho JN; Pediatric Neurology, Centro de Desenvolvimento da Criança Torrado da Silva, Garcia de Orta Hospital, Almada, Portugal.; Pons R; Pediatric Neurology Department, Children's Hospital Agia Sofia, Athens, Greece.; Roze E; Sorbonne University, INSERM, CNRS, Paris Brain Institute, AP-HP, Institute of Neurology, Paris, France.; Doummar D; Pediatric Neurology Department, Neurogenetic Reference Centre for Rare Neurological Diseases, Armand Trousseau Hospital APHP, Sorbonne Université, Paris, France.; Ortigoza-Escobar JD; Neurology Department, Coordinating Member of the ERN EpiCARE and ERN-RND Member, Barcelona Children's Hospital Sant Joan de Déu, University of Barcelona, Barcelona, Spain.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 8610688 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8257 (Electronic) Linking ISSN: 08853185 NLM ISO Abbreviation: Mov Disord Subsets: MEDLINE

Fassad MR; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Human Genetics Department, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Valenzuela S; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Oláhová M; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Department of Applied Sciences, Faculty of Health & Life Sciences, Northumbria University, Newcastle upon Tyne, UK.; Collier JJ; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; Department of Neurology and Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, Quebec, Canada.; Knowles CVY; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Mavraki E; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Elbracht M; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Güzel N; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Herberhold T; Centre of Epilepsy for Children and Adolescents, Hospital for Neuropediatrics and Neurological Rehabilitation, Schoen Klinik Vogtareuth, Vogtareuth, Germany.; Kurth I; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Maier A; Medical Treatment Center for Adults With Intellectual Disabilities and/or Severe Multiple Disabilities (MZEB), RWTH Aachen University Hospital, Aachen, Germany.; Mattern L; Center for Human Genetics and Genomic Medicine, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Saunders C; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; McCullagh H; Department of Paediatric Neurology, Leeds Teaching Hospitals NHS Trust, Leeds, UK.; Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Institute of Clinical Medicine, Tartu University Hospital, University of Tartu, Tartu, Estonia.; Wortmann SB; University Children's Hospital, Paracelsus Medical University (PMU), Salzburg, Austria.; Reis A; Institute of Human Genetics, Friedrich-Alexander-Universität Erlangen-Nürnberg (FAU), Erlangen, Germany.; Zhang L; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, Missouri, USA.; Division of Clinical Genetics, Children's Mercy Hospital, Kansas City, Missouri, USA.; School of Medicine, University of Missouri Kansas City, Kansas City, Missouri, USA.; Gustafsson CM; Department of Medical Biochemistry and Cell Biology, University of Gothenburg, Gothenburg, Sweden.; Department of Clinical Chemistry, Sahlgrenska University Hospital, Gothenburg, Sweden.; McFarland R; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Taylor RW; Mitochondrial Research Group, Faculty of Medical Sciences, Translational and Clinical Research Institute, Newcastle University, Newcastle upon Tyne, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.

Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE

Estévez-Arias B; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Universitat de Barcelona (UB), Barcelona, Spain.; Sarv S; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Bonello-Palot N; Marseille Medical Genetics, Aix-Marseille University-Inserm UMR 1251, Marseille, France.; Genetic Department, Timone Hospital, APHM, Marseille, France.; Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Expósito-Escudero J; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Yubero D; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Department of Genetic and Molecular Medicine-IPER, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Muchart J; Department of Radiology, Hospital Sant Joan de Déu, Barcelona, Spain.; Delmont E; Reference Center for Neuromuscular Disorders and ALS, APHM, CHU La Timone, Filnemus, ERN Neuro-NMD, Marseille, France.; Õiglane-Shlik E; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Children's Clinic, Tartu University Hospital, Tartu, Estonia.; Meren T; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Puusepp S; Department of Pathology, Tartu University Hospital, Tartu, Estonia.; Murumets Ü; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Salomons GS; Department Laboratory Medicine, Laboratory Genetic Metabolic Diseases, Amsterdam UMC, University of Amsterdam, Amsterdam, the Netherlands.; Udd B; Folkhälsan Research Center, Helsinki, Finland.; Medicum, University of Helsinki, Helsinki, Finland.; Tampere Neuromuscular Center, Tampere University Hospital, Tampere, Finland.; Väli L; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Neurology Clinic, Tartu University Hospital, Tartu, Estonia.; Cantarero L; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Bönnemann CG; Neuromuscular and Neurogenetic Disorders of Childhood Section, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Ramón-Maiques S; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Structure of Macromolecular Targets Unit, Instituto de Biomedicina de Valencia (IBV), CSIC, Valencia, Spain.; Centro de Investigación Príncipe Felipe (CIPF), Associated Unit to IBV-CSIC, Valencia, Spain.; Õunap K; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Hoenicka J; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Palau F; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Hospital Sant Joan de Déu, Barcelona, Spain.; Division of Pediatrics, Faculty of Medicine and Health Sciences, Universitat de Barcelona, Barcelona, Spain.

Publisher: Wiley-Liss Country of Publication: United States NLM ID: 7707449 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1531-8249 (Electronic) Linking ISSN: 03645134 NLM ISO Abbreviation: Ann Neurol Subsets: MEDLINE

Merkevicius K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Clinic of Paediatrics, Institute of Clinical Medicine, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Institute of Biosciences, Life Sciences Center, Vilnius University, 10257 Vilnius, Lithuania.; Smirnov D; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Schlieben LD; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Ganetzky R; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Center for Computational Genomic Medicine, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Feichtinger RG; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Jiang H; Department of Pediatrics, Weifang Maternal and Children Health Hospital, 261000 Weifang, China.; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Fang F; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Ebihara T; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Murayama K; Diagnostics and Therapeutics of Intractable Diseases, Intractable Disease Research Center, Graduate School of Medicine, Juntendo University, Tokyo, 113-842, Japan.; Department of Metabolism, Chiba Children's Hospital, Chiba City, 266-0007, Japan.; Ferrera G; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Ardissone A; Department of Pediatric Neurosciences, Child Neurology Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.; Rokicki D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Wesol-Kucharska D; Department of Paediatrics, Nutrition and Metabolic Diseases, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.; Schröder S; CENTOGENE GmbH, 18055 Rostock, Germany.; Bauer P; CENTOGENE GmbH, 18055 Rostock, Germany.; Department of Medicine, Clinic III, Hematology, Oncology, Palliative Medicine, University of Rostock, 18051 Rostock, Germany.; Pomeranian Medical University, 70-204 Szczecin, Poland.; Bertoli-Avella A; CENTOGENE GmbH, 18055 Rostock, Germany.; Østergaard E; Department of Clinical Genetics, Copenhagen University Hospital Rigshospitalet, 2100 Copenhagen, Denmark.; Department of Clinical Medicine, University of Copenhagen, 2200 Copenhagen, Denmark.; Freisinger P; Klinikum am Steinenberg, Children's Hospital Reutlingen, 72764 Reutlingen, Germany.; Janssen MCH; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Wagner M; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Abouyousef O; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alhaddad B; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; Lifera Omics, 11452 Riyadh, Saudi Arabia.; AlAbdi L; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alkuraya F; Department of Translational Genomics, Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center, 11211 Riyadh, Saudi Arabia.; Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Baghdasaryan A; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Barca D; Pediatric Neurology Department, Carol Davila University of Medicine and Pharmacy, Alexandru Obregia Clinical Hospital, 050474 Bucharest, Romania.; Barić I; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Bellusci M; Centro de Referencia Nacional (CSUR) y Europeo (MetabERN) en Enfermedades Metabólicas, Hospital Universitario 12 de Octubre, Instituto de Investigación i+12, CIBERER, 28041 Madrid, Spain.; Bevot A; Neuropediatrics, General Pediatrics, Diabetology, Endocrinology and Social Pediatrics, University of Tuebingen, University Hospital Tübingen, 72016 Tübingen, Germany.; Boltshauser E; Department of Neuropediatrics, University Children's Hospital Zurich, 8008 Zurich, Switzerland.; Borggraefe I; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, 80337 Munich, Germany.; Bouchereau J; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Bruno C; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Burnyte B; Institute of Biomedical Sciences, Faculty of Medicine, Vilnius University, 03101 Vilnius, Lithuania.; Calhoun A; Division of Medical Genetics and Genomics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, 52242 Iowa, USA.; Casas K; Sanford Health, Medical Genetics, Fargo, 58103 North Dakota, USA.; Coker M; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; Crushell E; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; De Lonlay P; Reference Center for Inherited Metabolic Diseases, Hopital Necker Enfants Malades, Institut Imagine, INEM, AP-HP, University Paris Descartes, 75015 Paris, France.; Dionisi-Vici C; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Distelmaier F; Department of General Pediatrics, Neonatology and Pediatric Cardiology, University Children's Hospital, Medical Faculty, Heinrich-Heine-University, 40225 Düsseldorf, Germany.; Falk MJ; Department of Pediatrics, Division of Human Genetics, Mitochondrial Medicine Frontier Program, Children's Hospital of Philadelphia, Philadelphia, PA 19104, USA.; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Ferreira AC; Reference Center of Inherited Metabolic Disease, Unidade Local de Saúde de São José, Lisbon Clinical Academic Center, 1169-045 Lisboa, Portugal.; Ferreira CR; Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA.; Ficicioglu C; Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, PA 19104, USA.; Section of Metabolic Disease, The Children's Hospital of Philadelphia, Philadelphia, 19104, PA, USA.; Fatma Gokçay G; Division of Nutrition and Metabolism, Istanbul Medical Faculty Children's Hospital, Istanbul University, 34390 Istanbul, Turkey.; Häberle J; Division of Metabolism & Children's Research Center, University Children's Hospital, 8032 Zürich, Switzerland.; Heath O; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Hellenschmidt A; Department for Pediatrics, Klinikum Karlsruhe, 76133 Karlsruhe, Germany.; Hoefele J; Institute of Human Genetics, TUM School of Medicine and Health, Technical University of Munich, 81675 Munich, Germany.; Institute of Human Genetics, University Hospital, Ludwig-Maximilians University, 80336 Munich, Germany.; Hoffmann GF; Heidelberg University, Medical Faculty Heidelberg, and Center for Pediatric and Adolescent Medicine, Department I, Division of Pediatric Neurology and Metabolic Medicine, University Hospital Heidelberg, Im Neuenheimer Feld 430, 69120 Heidelberg, Germany.; Honzik T; Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital in Prague, Praha, Czech Republic.; Huemer M; Department of Paediatrics, LKH Bregenz, 6900 Bregenz, Austria.; Division of Metabolism, University Children's Hospital, 8008 Zürich, Switzerland.; Janeiro P; Reference Center for Metabolic Diseases, Pediatric Department, Hospital de Santa Maria, ULSSM, 1169-045 Lisboa, Portugal.; Faculdade de Medicina, Universidade de Lisboa, 1649-028 Lisboa, Portugal.; Karaa A; Department of Paediatrics, Division of Genetics, Massachusetts General Hospital, Harvard Medical School, Boston, MA 02114, USA.; Seher Kasapkara Ç; Department of Pediatric Metabolic Diseases, Children's Hospital, Ankara Bilkent City Hospital, 06800 Ankara, Türkiye.; Kern I; Department of Pediatrics, Geneva University Hospital, 1205 Geneva, Switzerland.; Klepper J; Department of Neuropediatrics, Children's Hospital Aschaffenburg-Alzenau, 63739 Aschaffenburg, Germany.; Klopstock T; Friedrich-Baur-Institute, Department of Neurology, LMU University Hospital, Ludwig-Maximilians-Universität München, 80336 Munich, Germany.; German Center for Neurodegenerative Diseases (DZNE), 81377 Munich, Germany.; Munich Cluster for Systems Neurology (SyNergy), 81377 Munich, Germany.; Knerr I; National Centre for Inherited Metabolic Disorders, Children's Health Ireland, Dublin 1, D01 XD99, Dublin, Ireland.; Koch J; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Krumina Z; Department of Biology and Microbiology, Riga Stradiņš University, Riga, LV-1007, Latvia.; Lamperti C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20126 Milan, Italy.; Lebigot E; Biochemistry Department, Bicêtre Hospital, APHP Paris Saclay, 94270 Le Kremlin Bicêtre, France.; Liu Z; Department of Neurology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, 100005 Beijing, China.; Maier EM; Section of Inborn Errors of Metabolism, Dr. von Hauner Children's Hospital, University of Munich, 80337 Munich, Germany.; Martinelli D; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; McFarland R; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Mendelsohn B; Department of Medical Genetics, Kaiser Permanente Oakland Medical Center, Oakland, CA 94611, USA.; Molnar MJ; Institute of Genomic Medicine and Rare Disorders, Semmelweis University, 1085 Budapest, Hungary.; Mundy H; Department of Inherited Metabolic Disease, Evelina London Children's Hospital, London SE1 7EH, UK.; Nassogne MC; Service de Neurologie Pédiatrique, Cliniques Universitaires Saint-Luc, UCLouvain, 1200 Brussels, Belgium.; Oliveira A; Medicine Department, Santa Maria University Hospital, 1649-028 Lisbon, Portugal.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, 50406 Tartu, Estonia.; Department of Genetics and Personalized Medicine, Institute of Clinical Medicine, University of Tartu, 50406 Tartu, Estonia.; Panicucci C; Centre of Translational and Experimental Myology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Parikh S; Center for Child Neurology, Cleveland Clinic Children's Hospital, Cleveland, Ohio 44195, USA.; Peters H; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Pichard S; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Plecko B; Division of General Pediatrics, Department of Pediatrics and Adolescent Medicine, Medical University of Graz, 8010 Graz, Austria.; Ramadža DP; Department of Pediatrics, University Hospital Centre, Zagreb and University of Zagreb, School of Medicine, 10000 Zagreb, Croatia.; Repetto GM; Center for Genetics and Genomics, Facultad de Medicina, Clinica Alemana Universidad del Desarrollo, 7550000 Santiago, Chile.; Rivera I; iMed.ULisboa - Instituto de Investigação do Medicamento, Faculdade de Farmácia, Universidade de Lisboa, 1649-003 Lisbon, Portugal.; Rodenburg RJ; Department of Pediatrics and Internal Medicine, Radboudumc Amalia Childrens Hospital, Radboud Center for Mitochondrial Medicine, 6525 Nijmegen, The Netherlands.; Rossi A; Department of Translational Medicine, Section of Paediatrics, University of Naples 'Federico II', 80131 Naples, Italy.; Schiff M; Reference center for Inherited Metabolic Diseases and reference center for mitochondrial disorders (CARAMMEL), Hopital Necker-Enfants Malades, AP-HP, University Paris Cité, 75015 Paris, France.; Seidemann K; Department of Pediatric Cardiology and Intensive Care Medicine, Hannover Medical School, Carl-Neuberg-Street 1, 30625, Hannover, Germany.; Smith WE; MaineHealth Maine Medical Center Portland, Barbara Bush Children's Hospital, Division of Genetics, Portland, ME 04102, USA.; Soares S; Neuropediatrics Unit, of the Pediatrics Department, of the Pedro Hispano Hospital, ULSM, 4464 Matosinhos, Portugal.; Siri B; Division of Metabolic Diseases and Hepatology, Bambino Gesù Children's Hospital, IRCCS, 00165, Rome, Italy.; Steinbrucker K; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health (DINOGMI), University of Genoa, 16132 Genoa, Italy.; Paediatric Neurology and Muscle Disease Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.; Sykut-Cegielska J; Department of Inborn Errors of Metabolism and Paediatrics, The Institute of Mother and Child, 01-211 Warsaw, Poland.; Tal G; Metabolic Clinic and Pediatric Department B, Ruth Rappaport Children's Hospital, Rambam Health Care Campus, Haifa 3109601, Israel.; Rappaport Faculty of Medicine, Technion-Israel Institute of Technology, Haifa 3109601, Israel.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne, NE2 4HH, UK.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, NE1 4LP, UK.; Tsiakas K; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Kalkan Ucar S; Division of Metabolism and Nutrition, Department of Pediatrics, Faculty of Medicine, Ege University, 35100 Izmir, Turkey.; van Konijnenburg EH; Department of Metabolic Diseases, Wilhelmina Children's Hospital University Medical Center Utrecht, 3584 EA Utrecht, The Netherlands.; Woidy M; Department for Inborn Metabolic Diseases, University Children's Hospital, University Medical Center Hamburg-Eppendorf, 20246 Hamburg, Germany.; Yaplito-Lee J; Department of Metabolic Medicine, Royal Children's Hospital, Melbourne, 3052 Victoria, Australia.; Yildiz Y; Division of Pediatric Metabolism, Department of Pediatrics, Faculty of Medicine, Hacettepe University, 06230 Ankara, Turkey.; Zenker M; Institute of Human Genetics, University Hospital, 39120 Magdeburg, Germany.; Zsidegh P; Pediatric Centre, Bókay Street Department, Semmelweis University, 1083 Budapest, Hungary.; Westphal D; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Sperl W; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Meitinger T; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Brown GK; Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, The Churchill Hospital, Oxford, OX3 7LE, UK.; Prokisch H; School of Medicine, Institute of Human Genetics, Klinikum rechts der Isar, Technical University of Munich, 81675 Munich, Germany.; Institute of Neurogenomics, Computational Health Centre, Helmholtz Zentrum München, 85764 Neuherberg, Germany.; German Center for Child and Adolescent Health (DZKJ), partner site Munich, 80337 Munich, Germany.; Mayr JA; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.; Institute of Human Genetics, University Hospital Salzburg, Paracelsus Medical University, 5020 Salzburg, Austria.; Wortmann SB; University Children's Hospital, Expertise Centre for Mitochondrial diseases (Mitohaus), Paracelsus Medical University (PMU) Salzburg, 5020 Salzburg, Austria.

Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Planas-Serra L; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Rodríguez-Ruiz M; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Anderson EN; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.; Rodríguez-Palmero A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Pediatric Neurology Unit, Department of Pediatrics. Hospital Universitari Germans Trias i Pujol, Universitat Autònoma de Barcelona, Barcelona, Catalonia, Spain.; Vélez-Santamaria V; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Neuromuscular Unit, Department of Neurology, Hospital Universitari de Bellvitge, Universitat de Barcelona, L'Hospitalet de Llobregat, Barcelona, Spain.; Schlüter A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Verdura E; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Gereñu G; Neuromuscular Diseases Group, Neurosciences Area, Biodonostia Health Research Institute, Hospital Universitario Donostia-OSAKIDETZA, 20014 Donostia/San Sebastián, Spain; CIBERNED, Carlos III Institute, Spanish Ministry of Economy & Competitiveness, 28031 Madrid, Spain; Department of Physiology, University of the Basque Country UPV-EHU, 48940 Leioa, Spain; Ikerbasque, Basque Foundation for Science, Bilbao, Basque Country, Spain.; Jiménez-Zúñiga A; Neuromuscular Diseases Group, Neurosciences Area, Biodonostia Health Research Institute, Hospital Universitario Donostia-OSAKIDETZA, 20014 Donostia/San Sebastián, Spain.; Iñañez A; RUBAM, Department of Biological Chemistry, IQAC-CSIC, Madrid, Spain; Liver and Digestive Diseases Networking Biomedical Research Centre (CIBEREHD) ISCIII, 28029 Madrid, Spain.; Casas J; RUBAM, Department of Biological Chemistry, IQAC-CSIC, Madrid, Spain; Liver and Digestive Diseases Networking Biomedical Research Centre (CIBEREHD) ISCIII, 28029 Madrid, Spain.; Bech JJ; Proteomics Unit, Josep Carreras Leukaemia Research Institute, Barcelona, Catalonia, Spain.; De La Torre C; Proteomics Unit, Josep Carreras Leukaemia Research Institute, Barcelona, Catalonia, Spain.; Martínez JJ; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Ruiz M; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Fourcade S; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Iascone M; Laboratory of Genetic Medicine, ASST Papa Giovanni XXIII, Bergamo, Italy.; Tenconi R; Department of Pediatrics, Genetica Clinica, Università di Padova, Padova, Italy.; Meier K; Department of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, Goettingen, Germany.; Diegmann S; Department of Pediatrics and Adolescent Medicine, University Medical Center Goettingen, Goettingen, Germany.; Lee RHC; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.; Beland B; Department of Biological Sciences, International Islamic University (IIU), Islamabad, Pakistan.; Mir A; Department of Biological Sciences, International Islamic University (IIU), Islamabad, Pakistan.; Darvish H; Neuroscience Research Center, Faculty of Medicine, Golestan University of Medical Sciences, Gorgan, Iran.; Chung W; Department of Pediatrics, Boston Children's Hospital, Boston, MA, USA; Harvard Medical School, Boston, MA, USA.; Karimiani EG; Molecular and Clinical Sciences Institute, St. George's, University of London, Cranmer Terrace London, London, UK.; Leal SM; Center for Statistical Genetics, Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY, USA; Taub Institute for Alzheimer's Disease and the Aging Brain, Columbia University Medical Center, New York, NY, USA.; Schrauwen I; Center for Statistical Genetics, Sergievsky Center, Department of Neurology, Columbia University Medical Center, New York, NY, USA.; Öhman S; Kårkulla Joint Authority, Kirjala, Finland; Tampere University, Vaccine Research Center, Tampere, Finland; Turku Vaccine Research Clinic, Turku, Finland.; Järvelä I; Department of Medical Genetics, University of Helsinki, Helsinki, Finland.; Granvik J; Wellbeing Services County of Central Ostrobothnia, Kokkola, Finland.; Reinson K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Kurvinen E; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Õunap K; Department of Clinical Genetics, Genetic and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Schwan A; Medical Healthcare Centre Dr. Eberhard und Partner Dortmund, Medical Genetics, Dortmund, Germany.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Kalayci T; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.; Sharifi S; Department of Medical Genetics, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey.; Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.; Houlden H; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.; Maroofian R; Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology, University College London, London, UK.; López de Munaín A; Neuromuscular Diseases Group, Neurosciences Area, Biodonostia Health Research Institute, Hospital Universitario Donostia-OSAKIDETZA, 20014 Donostia/San Sebastián, Spain; Ikerbasque, Basque Foundation for Science, Bilbao, Basque Country, Spain; Department of Neurosciences, University of the Basque Country UPV-EHU, 48940 Leioa, Spain.; Casasnovas C; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Neuromuscular Unit, Department of Neurology, Hospital Universitari de Bellvitge, Universitat de Barcelona, L'Hospitalet de Llobregat, Barcelona, Spain.; Pandey UB; Department of Pediatrics, Children's Hospital of Pittsburgh, University of Pittsburgh Medical Center, Pittsburgh, PA, USA.; Pujol A; Neurometabolic Diseases Laboratory, Bellvitge Biomedical Research Institute (IDIBELL), L'Hospitalet de Llobregat, Barcelona, Catalonia, Spain; Centre for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain; Catalan Institution of Research and Advanced Studies (ICREA), Barcelona, Catalonia, Spain. Electronic address: apujol@idibell.cat.

Publisher: Cell Press Country of Publication: United States NLM ID: 0370475 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1537-6605 (Electronic) Linking ISSN: 00029297 NLM ISO Abbreviation: Am J Hum Genet Subsets: MEDLINE

Asadollahi R; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland. R.Asadollahi@greenwich.ac.uk.; Faculty of Engineering and Science, University of Greenwich London, Medway Campus, Chatham Maritime, London, UK. R.Asadollahi@greenwich.ac.uk.; Ahmad A; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Boonsawat P; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Shahanoor Hinzen J; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Lohse M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Bouazza-Arostegui B; Institute of Neurophysiology, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; Sun S; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Utesch T; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Sommer JD; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ilic D; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Padmanarayana M; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Fischermanns K; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ranjan M; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Boll M; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany.; Ka C; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Piton A; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.; Mattioli F; Institut de Génétique et de Biologie Moléculaire et Cellulaire, Strasbourg, France.; Isidor B; Nantes Université, CHU de Nantes, Service de Génétique médicale, Nantes, France.; Õunap K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Reinson K; Genetics and Personalized Medicine Clinic, Tartu University Hospital, Tartu, Estonia.; Institute of Clinical Medicine, University of Tartu, Tartu, Estonia.; Wojcik MH; Divisions of Newborn Medicine and Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Manton Center for Orphan Disease Research, Division of Genetics and Genomics, Department of Pediatrics, Boston Children's Hospital, Harvard Medical School, Boston, MA, USA.; Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.; Marshall CR; Genome Diagnostics, Department of Paediatric Laboratory Medicine, The Hospital for Sick Children and University of Toronto, Toronto, Ontario, Canada.; Mercimek-Andrews S; Department of Medical Genetics, Faculty of Medicine & Dentistry, University of Alberta, Edmonton, Alberta, Canada.; Matsumoto N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Miyake N; Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan.; Department of Human Genetics, Research Institute, National Center for Global Health and Medicine, Tokyo, Japan.; Stephan BO; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Honjo RS; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Bertola DR; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Kim CA; Clinical Genetics Unit, Instituto da Crianca, Hospital das Clinicas HCFMUSP, Faculdade de Medicina, Universidade de São Paulo, São Paulo, Brazil.; Yusupov R; Division of Clinical Genetics, Joe DiMaggio Children's Hospital, Hollywood, FL, USA.; Mefford HC; Center for Pediatric Neurological Disease Research, St. Jude Children's Hospital, Memphis, TN, USA.; Christodoulou J; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Lee J; Department of Metabolic Medicine, The Royal Children's Hospital, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Heath O; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Brown NJ; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Baker N; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Stark Z; Department of Paediatrics, University of Melbourne, Melbourne, Victoria, Australia.; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Delatycki M; Victorian Clinical Genetics Services, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Lake NJ; Brain and Mitochondrial Research Group, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.; Department of Genetics, Yale School of Medicine, New Haven, CT, USA.; Zeidler S; Department of Clinical Genetics, Erasmus MC, Rotterdam, The Netherlands.; Zuurbier L; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.; Maas SM; Amsterdam UMC, University of Amsterdam, Department of Human Genetics, Amsterdam, The Netherlands.; de Kruiff CC; Emma Children's Hospital, Amsterdam University Medical Centre, Amsterdam, The Netherlands.; Rajabi F; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Department of Pediatrics, Section of Genetics and Metabolism, University of Colorado Anschutz Medical Campus, Aurora, CO, USA.; Rodan LH; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Coury SA; Division of Genetics and Genomics, Boston Children's Hospital, Boston, MA, USA.; Division of Genetics, Brigham and Women's Hospital, Boston, MA, USA.; Platzer K; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Oppermann H; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Abou Jamra R; Institute of Human Genetics, University of Leipzig Medical Center, Leipzig, Germany.; Beblo S; Center for Pediatric Research, University Hospital for Children and Adolescents, and Centre for Rare Diseases, University Hospital Leipzig, Leipzig, Germany.; Maxton C; Zentrum für Kinderneurologie, Hamburg, Germany.; Śmigiel R; Department of Pediatrics, Endocrinology, Diabetology and Metabolic Diseases, Medical University of Wrocław, Wrocław, Poland.; Underhill H; Department of Pediatrics, Division of Medical Genetics, University of Utah, Salt Lake City, UT, USA.; Dubbs H; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Rosen A; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig KL; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Helbig I; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; The Center for Epilepsy and Neurodevelopmental Disorders, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Biomedical and Health Informatics (DBHi), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Ruggiero SM; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Fitzgerald MP; Division of Neurology, Department of Pediatrics, Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Epilepsy NeuroGenetics Initiative (ENGIN), Children's Hospital of Philadelphia, Philadelphia, PA, USA.; Department of Neurology, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA, USA.; Kraemer D; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Prada CE; Division of Genetics and Rare Diseases, Ann and Robert H. Lurie Children's Hospital of Chicago, Chicago, IL, USA.; Department of Pediatrics, Northwestern University Feinberg School of Medicine, Chicago, IL, USA.; Tenney J; Department of Pediatrics, University of Cincinnati College of Medicine, Cincinnati, OH, USA.; Division of Neurology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.; Jayakar P; Division of Genetics and Metabolism, Nicklaus Children's Hospital, Miami, FL, USA.; Redon S; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Lefranc J; Pediatrics Department, Competence Center for Epilepsy, Hôpital Morvan, CHU Brest, Brest, France.; Uguen K; Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Race S; Division of Biochemical Genetics, BC Children's Hospital, Vancouver, British Columbia, Canada.; Efthymiou S; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, London, UK.; Coppens S; Center of Human Genetics, Hôpital Universitaire de Bruxelles, Université Libre de Bruxelles, Brussels, Belgium.; Deconinck N; Centre de Référence Neuromusculaire and Paediatric Neurology Department, Hôpital Universitaire des Enfants Reine Fabiola, Hôpital Universitaire de Bruxelles (HUB), Université Libre de Bruxelles, Brussels, Belgium.; Ashokkumar B; School of Biotechnology, Madurai Kamaraj University, Madurai, India.; Varalakshmi P; School of Biotechnology, Madurai Kamaraj University, Madurai, India.; Gowda K VR; Indira Gandhi Institute of Child Health, Bangalore, India.; Bangalore Child Neurology and Rehabilitation Center, Bangalore, India.; Eghbal F; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Ghayoor Karimiani E; Department of Medical Genetics, Next Generation Genetic Polyclinic, Mashhad, Iran.; Heidari M; Myelin Disorders Clinic, Department of Pediatric Neurology, Children's Medical Center, Pediatrics Center of Excellence, Tehran University of Medical Sciences, Tehran, Iran.; Neidhardt J; Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany.; Owczarek-Lipska M; Human Genetics, Medical Faculty, School of Medicine and Health Sciences, Carl von Ossietzky Universität Oldenburg, Oldenburg, Germany.; Research Center Neurosensory Science, Carl von Ossietzky University Oldenburg, Oldenburg, Germany.; Korenke GC; Department of Neuropediatrics, University Children's Hospital, Klinikum Oldenburg, Oldenburg, Germany.; Bamshad MJ; Division of Genetic Medicine, Department of Pediatrics, University of Washington, Seattle, WA, USA.; Campeau PM; Department of Pediatrics, CHU Sainte-Justine and University of Montreal, Montreal, Quebec, Canada.; Lehman A; Department of Medical Genetics, The University of British Columbia, Vancouver, British Columbia, Canada.; Hendon LG; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.; Wentzensen IM; GeneDx, LLC, Gaithersburg, MD, USA.; Monaghan KG; GeneDx, LLC, Gaithersburg, MD, USA.; Chen Y; GeneDx, LLC, Gaithersburg, MD, USA.; Szuto A; The Hospital for Sick Children, Toronto, Ontario, Canada.; Cohn RD; The Hospital for Sick Children, Toronto, Ontario, Canada.; Au PYB; Department of Medical Genetics, Alberta Children's Hospital Research Institute, Cumming School of Medicine, University of Calgary, Calgary, Alberta, Canada.; Hübner C; Department of Neuropediatrics, Faculty of Medicine and University Hospital Carl Gustav Carus, Technische Universität Dresden, Dresden, Germany.; Boschann F; Institut für Medizinische Genetik und Humangenetik, Charité-Universitätsmedizin Berlin, corporate member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Berlin, Germany.; BIH Biomedical Innovation Academy, Clinician Scientist Program, Berlin Institute of Health at Charité-Universitätsmedizin Berlin, Berlin, Germany.; Manickam K; Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; Koboldt DC; Department of Pediatrics, The Ohio State University College of Medicine, Columbus, OH, USA.; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, OH, USA.; Rad A; Arcensus GmbH, Rostock, Germany.; Oprea G; Arcensus GmbH, Rostock, Germany.; Bachman KK; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA.; Seeley AH; Department of Pediatrics, Women's and Children's Institute, Geisinger Medical Center, Danville, PA, USA.; Agolini E; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Terracciano A; Laboratory of Medical Genetics, Translational Cytogenomics Research Unit, Bambino Gesù Children's Hospital, IRCCS, Rome, Italy.; Carmelo P; Medical and Laboratory Genetics Unit, A.O.R.N. 'Antonio Cardarelli', Naples, Italy.; Bupp C; Corewell Health West Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Grysko B; Corewell Health West Helen DeVos Children's Hospital, Grand Rapids, MI, USA.; Rein-Rothschild A; The Institute for Rare Diseases, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Ben Zeev B; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv, Israel.; Pediatric Neurology Unit, The Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Ramat Gan, Israel.; Margolin A; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.; Morrison J; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.; Dagli A; Division of Medical Genetics, Arnold Palmer Hospital Orlando Health, Orlando, FL, USA.; Stolerman E; Greenwood Genetic Center, Greenwood, SC, USA.; Louie RJ; 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Univ Brest, Inserm, EFS, UMR 1078, GGB, Brest, France.; Service de Génétique Médicale et Biologie de la Reproduction, CHU de Brest, Brest, France.; Taschenberger H; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Brose N; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Dittman JS; Department of Biochemistry, Weill Cornell Medicine, New York, NY, USA.; Rauch A; Institute of Medical Genetics, University of Zurich, Zurich, Switzerland.; Children's Hospital, University Zurich, Zurich, Switzerland.; Lipstein N; Department of Molecular Neurobiology, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany. Lipstein@FMP-berlin.de.; Leibniz-Forschungsinstitut für Molekulare Pharmakologie (FMP), Berlin, Germany. Lipstein@FMP-berlin.de.

Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1718 (Electronic) Linking ISSN: 10614036 NLM ISO Abbreviation: Nat Genet Subsets: MEDLINE