부산대학교 도서관

Graefe, Adam S. L.; Rehburg, Filip; Alkarkoukly, Samer; Danis, Daniel; Grönke, Ana; Hübner, Miriam R.; Bartschke, Alexander; Debertshäuser, Thomas; Klopfenstein, Sophie A. I.; Saß, Julian; Fleck, Julia; Rehberg, Mirko; Zschüntzsch, Jana; Nyoungui, Elisabeth F.; Kalashnikova, Tatiana; Murguía-Favela, Luis; Derfalvi, Beata; Wright, Nicola A. M.; Moosa, Shahida; Ogishima, Soichi; Semler, Oliver; Wiegand, Susanna; Kühnen, Peter; Mungall, Christopher J.; Haendel, Melissa A.; Robinson, Peter N.; Thun, Sylvia; Beyan, Oya

npj Genomic Medicine. 10(1)

Berthele, A.; Aktas, O.; Ayzenberg, I.; Claus, H.; Lâm, T.-T.; Löscher, W. N.; Lünemann, J. D.; Pröbstel, A. K.; Prüß, H.; Rademacher, N.; Ringelstein, M.; Rommer, P. S.; Schara-Schmidt, U.; Schoser, B.; Weber, J. R.; Zschüntzsch, J.; Meisel, A.

DGNeurologie: Zeitschrift der Deutschen Gesellschaft für Neurologie. 8(5):398-407

Bril V; Ellen and Martin Prosserman Centre for Neuromuscular Diseases, Toronto General Hospital, University of Toronto, Toronto, ON, Canada. vera.bril@utoronto.ca.; Antozzi C; Immunotherapy and Apheresis Unit and Neuroimmunology and Muscle Pathology Unit, Fondazione Istituto di Ricovero e Cura a Carattere Scientifico, Istituto Neurologico Carlo Besta, Milan, Italy.; Berkowicz T; Miejskie Centrum Medyczne Jonscher im. dr. Karola Jonschera w Łodzi, Łodź, Poland.; Drużdż A; Department of Neurology, Municipal Hospital, Poznań, Poland.; Gandhi Mehta RK; Department of Neurology, Wake Forest University School of Medicine, Winston-Salem, NC, USA.; Mahuwala ZK; Department of Neuromuscular Medicine, Epilepsy and Clinical Neurophysiology, University of Kentucky, Lexington, KY, USA.; Zschüntzsch J; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.; Boehnlein M; UCB, Monheim, Germany.; Kerbusch V; PharmAspire BV, Wijchen, The Netherlands.; Lavrov A; UCB, Monheim, Germany.; Morris M; UCB, Slough, UK.; Singh P; UCB, Slough, UK.; Leite MI; Nuffield Department of Clinical Neurosciences, University of Oxford, Oxford, UK.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Auf dem Brinke K; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.; Borsch LM; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.; Klose C; Lipotype GmbH, Dresden, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany; Neuromuscular Center Göttingen, Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.; Vinhoven L; Department of Medical Bioinformatics, University Medical Center Göttingen, Göttingen, Germany.; Nietert M; Department of Medical Bioinformatics, University Medical Center Göttingen, Göttingen, Germany.; Lattau SSJ; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.; Fitzner D; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany. Electronic address: d.fitzner@med.uni-goettingen.de.

Publisher: Elsevier Country of Publication: United States NLM ID: 0376606 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1539-7262 (Electronic) Linking ISSN: 00222275 NLM ISO Abbreviation: J Lipid Res Subsets: MEDLINE

Jacob M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Kölbel H; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Harrer P; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Kopajtich R; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Munot P; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.; Achleitner MT; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Badmann S; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Brugger M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Brunet T; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Bonne G; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris 75013, France.; Codina M; Clinical and Molecular Genetics Area, Vall D'Hebron Hospital Medicine Genetics Group, Vall D'Hebron Research Institute (VHIR), Barcelona 08035, Spain.; Ebner L; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Eshraghi P; Clinical Research Development Unit of Akbar Hospital, Faculty of Medicine, Mashhad University of Medical Sciences, Mashhad 9177949025, Iran.; Eyring K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Farhat AS; Neonatal Research Center, Mashhad University of Medical Sciences, Mashhad 9177949025, Iran.; Feichtinger RG; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Graf E; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Marcé-Grau A; Department of Pediatric Neurology, Vall D'Hebron University Hospital, Vall D'Hebron Hospital Campus, Barcelona 08035, Spain.; Hahn A; Department of Neonatology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Karimiani EG; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Manel V; Service de Médecine Physique et Réadaptation Pédiatrique, L'Escale, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Groupement Est, Bron 69500, France.; Mayerhanser K; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Nectoux J; Service de Médecine Physique et Réadaptation Pédiatrique, L'Escale, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Groupement Est, Bron 69500, France.; Nelson I; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris 75013, France.; Phadke R; Dubowitz Neuromuscular Centre, Great Ormond Street Hospital, London WC1N 3JH, UK.; Prokisch H; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Sadeghian S; Department of Pediatric Neurology, Golestan Medical, Educational, and Research Center, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715753, Iran.; Saparov A; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Helmholtz Association, Munich School for Data Science (MUDS), Helmholtz Zentrum Munich, Munich 85764, Germany.; Schänzer A; Institute of Neuropathology, Justus Liebig University Giessen, Giessen 35392, Germany.; Schara-Schmidt U; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Schmidt J; Institute of Human Genetics, University Medical Center Göttingen, Göttingen 37073, Germany.; Schuler R; Department of Neonatology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Department of Child Neurology, Justus-Liebig-University Giessen, Giessen 35390, Germany.; Sewry C; Cellular Pathology, Salford Royal Hospital NHS Foundation Trust, Northern Care Alliance, Manchester M6 8HD, UK.; Wolfson Centre for Neuromuscular Disorders, Robert Jones and Agnes Hunt Orthopaedic Hospital, Oswestry SY10 7AG, UK.; Shariati G; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.; Department of Medical Genetics, Faculty of Medicine, Ahvaz Jundishapur University of Medical Sciences, Ahvaz 6135715753, Iran.; Slanz S; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Smirnov D; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Sukenik-Halevy R; Genetic Institute, Meir Medical Center, Kfar Saba 4428164, Israel.; School of Medicine, Faculty of Medical and Health Sciences, Tel Aviv University, Tel Aviv 69978, Israel.; Tajsharghi H; Division of Biomedicine, School of Health Sciences, University of Skovde, Skovde 541 28, Sweden.; Toosi MB; Department of Pediatrics, School of Medicine, Mashhad University of Medical Sciences, Mashhad 9177949025, Iran.; Neuroscience Research Center, Mashhad University of Medical Sciences, Mashhad 9177948564, Iran.; Trujillano L; Clinical and Molecular Genetics Area, Vall D'Hebron Hospital Medicine Genetics Group, Vall D'Hebron Research Institute (VHIR), Barcelona 08035, Spain.; Weis J; Institute of Neuropathology, RWTH Aachen University Hospital, Aachen 52074, Germany.; Wilson LC; Department of Clinical Genetics, Great Ormond Street Hospital, London WC1N 3JH, UK.; Yaou RB; Sorbonne Université, Inserm, Institut de Myologie, Centre de Recherche en Myologie, Paris 75013, France.; Zamani M; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Narges Medical Genetics and Prenatal Diagnosis Laboratory, Kianpars, Ahvaz 61556-89467, Iran.; Zech M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Institute for Advanced Study, Technical University of Munich, Garching 85748, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center, Göttingen 37075, Germany.; Kornak U; Institute of Human Genetics, University Medical Center Göttingen, Göttingen 37073, Germany.; Goméz-Andrés D; Department of Pediatric Neurology, Vall D'Hebron University Hospital, Vall D'Hebron Hospital Campus, Barcelona 08035, Spain.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.; Winkelmann J; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Munich Cluster for Systems Neurology (SyNergy), Munich 81377, Germany.; Roos A; Department of Neuropediatrics and Neuromuscular Centre for Children and Adolescents, Center for Translational Neuro- and Behavioral Sciences, University Hospital Essen, Duisburg-Essen University, Essen 45147, Germany.; Department of Neurology, Heinrich Heine University Düsseldorf, Düsseldorf 40225, Germany.; Division of Neurology, Department of Medicine, Children's Hospital of Eastern Ontario Research Institute, the Ottawa Hospital, and Brain and Mind Research Institute, University of Ottawa, Ottawa, Canada K1H 8L6.; Distelmaier F; Department of General Pediatrics, Neonatology, and Pediatric Cardiology, Medical Faculty and University Hospital Düsseldorf, Heinrich-Heine-University, Düsseldorf 40225, Germany.; Mayr JA; University Children's Hospital, Salzburger Landeskliniken (SALK) and Paracelsus Medical University (PMU), Salzburg 5020, Austria.; Wagner M; Institute of Human Genetics, School of Medicine and Health, Technical University of Munich, Munich 81675, Germany.; Institute of Neurogenomics, Helmholtz Zentrum Munich, Neuherberg 85764, Germany.; Division of Pediatric Neurology, Developmental Medicine and Social Pediatrics, Department of Pediatrics, Dr. von Hauner Children's Hospital, Ludwig-Maximilian University (LMU) Munich, Munich 80337, Germany.

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

Glaubitz S; Department of Neurology, University Medical Center Göttingen, Robert-Koch-Straße 40, Göttingen, 37075, Germany. stefanie.glaubitz@med.uni-goettingen.de.; Heart & Brain Center Göttingen, University Medical Center Göttingen, Göttingen, Germany. stefanie.glaubitz@med.uni-goettingen.de.; Meyer S; Department of Neurology, University Medical Center Göttingen, Robert-Koch-Straße 40, Göttingen, 37075, Germany.; Heart & Brain Center Göttingen, University Medical Center Göttingen, Göttingen, Germany.; Loris J; Department of Neurology, University Medical Center Göttingen, Robert-Koch-Straße 40, Göttingen, 37075, Germany.; Zeng R; Department of Neurology, University Medical Center Göttingen, Robert-Koch-Straße 40, Göttingen, 37075, Germany.; Department of Neurology, Faculty of Medicine and University Hospital Carl Gustav Carus, TUD Dresden University of Technology, Dresden, Germany.; Kummer K; Department of Neurology and Pain Treatment, Immanuel Clinic Rüdersdorf, University Hospital of the Brandenburg Medical School Theodor Fontane, Rüdersdorf bei Berlin, Germany.; Garfias-Veitl T; Department of Medical Statistics, University Medical Center Göttingen, Göttingen, Germany.; Seraji A; Department of Neurology, University Medical Center Göttingen, Robert-Koch-Straße 40, Göttingen, 37075, Germany.; Department of Neurology, KRH Klinikum Nordstadt, Hannover, Germany.; Hassoun L; Department of Neurology, University Medical Center Göttingen, Robert-Koch-Straße 40, Göttingen, 37075, Germany.; Rohleder D; Institute of Sport, University Bremen, Bremen, Germany.; Hunger I; Institute of Sport, University Bremen, Bremen, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center Göttingen, Robert-Koch-Straße 40, Göttingen, 37075, Germany.; Heart & Brain Center Göttingen, University Medical Center Göttingen, Göttingen, Germany.

Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377 (Electronic) Linking ISSN: 14712377 NLM ISO Abbreviation: BMC Neurol Subsets: MEDLINE

Bremer J; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen 52074, Germany.; Nagel J; Institute of Toxicology and Environmental Hygiene, Technical University of Munich, School of Medicine and Health, Munich 80802, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center Göttingen, Göttingen 37075, Germany.; Zajt KK; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen 52074, Germany.; Palaz T; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen 52074, Germany.; Blank T; Faculty of Medicine, Institute of Neuropathology, University of Freiburg, Freiburg 79106, Germany.; Ikis A; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen 52074, Germany.; Fischer LA; Department of Neurology, University Medical Center Göttingen, Göttingen 37075, Germany.; Sensmeyer ASM; Department of Neurology, University Medical Center Göttingen, Göttingen 37075, Germany.; Wiechers L; Department of Neurology, University Medical Center Göttingen, Göttingen 37075, Germany.; Reichelt JJ; Department of Neurology, University Medical Center Göttingen, Göttingen 37075, Germany.; Hofmann KP; Department of Chronic Inflammation and Cancer, DKFZ Heidelberg, Heidelberg 69120, Germany.; Wolf MJ; Institute of Neuropathology, University Hospital Zürich, Zürich 8091, Switzerland.; Leuchtenberger C; Department of Chronic Inflammation and Cancer, DKFZ Heidelberg, Heidelberg 69120, Germany.; Tripathi P; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen 52074, Germany.; Einer C; Institute of Molecular Toxicology and Pharmacology, Helmholtz Munich, Neuherberg 85764, Germany.; Zischka H; Institute of Toxicology and Environmental Hygiene, Technical University of Munich, School of Medicine and Health, Munich 80802, Germany.; Institute of Molecular Toxicology and Pharmacology, Helmholtz Munich, Neuherberg 85764, Germany.; Rothermel U; Department of Chronic Inflammation and Cancer, DKFZ Heidelberg, Heidelberg 69120, Germany.; Eck AL; Department of Chronic Inflammation and Cancer, DKFZ Heidelberg, Heidelberg 69120, Germany.; Reimann RR; Institute of Neuropathology, University Hospital Zürich, Zürich 8091, Switzerland.; Kana V; Institute of Neuropathology, University Hospital Zürich, Zürich 8091, Switzerland.; Department of Neurology, University Hospital Zürich, Zürich 8091, Switzerland.; Rushing E; Institute of Neuropathology, University Hospital Zürich, Zürich 8091, Switzerland.; Aguzzi A; Institute of Neuropathology, University Hospital Zürich, Zürich 8091, Switzerland.; Prinz M; Faculty of Medicine, Institute of Neuropathology, University of Freiburg, Freiburg 79106, Germany.; Signalling Research Centres BIOSS and CIBSS, University of Freiburg, Freiburg 79106, Germany.; Liebetanz D; Department of Neurology, University Medical Center Göttingen, Göttingen 37075, Germany.; Odoardi F; Institute for Neuroimmunology and Multiple Sclerosis Research, University Medical Center Göttingen, Göttingen 37075, Germany.; Kuo CC; Genomics Facility, IZKF Aachen, RWTH Aachen University, Aachen 52074, Germany.; Weis J; Institute of Neuropathology, University Hospital RWTH Aachen, Aachen 52074, Germany.; Kraft F; Center for Human Genetics and Genomic Medicine, University Hospital RWTH Aachen, Aachen 52074, Germany.; Schmidt J; Department of Neurology, University Medical Center Göttingen, Göttingen 37075, Germany.; Department of Neurology and Pain Treatment, Neuromuscular Center, Center for Translational Medicine, Immanuel University Hospital Rüdersdorf, Brandenburg Medical School Theodor Fontane (MHB), Rüdersdorf bei Berlin 15562, Germany.; Faculty of Health Sciences Brandenburg, Brandenburg Medical School Theodor Fontane (MHB), Rüdersdorf bei Berlin 15562, Germany.; Heikenwälder M; Department of Chronic Inflammation and Cancer, DKFZ Heidelberg, Heidelberg 69120, Germany.; The M3 Research Institute, Eberhard-Karls University, Tübingen 72016, Germany.

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

Wellmann P; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.; Schön MP; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.; Mössner R; Department of Dermatology, Venereology and Allergology, University Medical Center Göttingen, Göttingen, Germany.

Publisher: Blackwell Country of Publication: Germany NLM ID: 101164708 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1610-0387 (Electronic) Linking ISSN: 16100379 NLM ISO Abbreviation: J Dtsch Dermatol Ges Subsets: MEDLINE; In Process

Glaubitz S; Department of Neurology, University Medical Center Göttingen, Robert-Koch-Straße 40, 37075, Göttingen, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center Göttingen, Robert-Koch-Straße 40, 37075, Göttingen, Germany.; Sakkas A; Department of Oral and Plastic Maxillofacial Surgery, Military Hospital Ulm, Academic Hospital of the University of Ulm, Oberer Eselsberg 40, 89081, Ulm, Germany.; Department of Oral and Plastic Maxillofacial Surgery, University Hospital Ulm, Albert-Einstein-Allee 10, 89081, Ulm, Germany.; Scheurer M; Department of Oral and Plastic Maxillofacial Surgery, Military Hospital Ulm, Academic Hospital of the University of Ulm, Oberer Eselsberg 40, 89081, Ulm, Germany.; Department of Oral and Plastic Maxillofacial Surgery, University Hospital Ulm, Albert-Einstein-Allee 10, 89081, Ulm, Germany.; Wilde F; Department of Oral and Plastic Maxillofacial Surgery, Military Hospital Ulm, Academic Hospital of the University of Ulm, Oberer Eselsberg 40, 89081, Ulm, Germany.; Department of Oral and Plastic Maxillofacial Surgery, University Hospital Ulm, Albert-Einstein-Allee 10, 89081, Ulm, Germany.; Schramm A; Department of Oral and Plastic Maxillofacial Surgery, Military Hospital Ulm, Academic Hospital of the University of Ulm, Oberer Eselsberg 40, 89081, Ulm, Germany.; Department of Oral and Plastic Maxillofacial Surgery, University Hospital Ulm, Albert-Einstein-Allee 10, 89081, Ulm, Germany.; Ebeling M; Department of Oral and Plastic Maxillofacial Surgery, Military Hospital Ulm, Academic Hospital of the University of Ulm, Oberer Eselsberg 40, 89081, Ulm, Germany. Marcel.ebeling@uni-ulm.de.; Department of Oral and Plastic Maxillofacial Surgery, University Hospital Ulm, Albert-Einstein-Allee 10, 89081, Ulm, Germany. Marcel.ebeling@uni-ulm.de.

Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN: 2045-2322 (Electronic) Linking ISSN: 20452322 NLM ISO Abbreviation: Sci Rep Subsets: MEDLINE; In Process

Graefe, A.S.L.; Hübner, M.R.; Rehburg, F.; Sander, S.; Klopfenstein, S.A.I.; Danis, D.; Robinson, P.N.; Thun, S.; Beyan, O.; Alkarkoukly, S.; Grönke, A.; Weyersberg, A.; Zschüntzsch, J.; Nyoungui, E.F.; Wiegand, S.; Kühnen, P.

In: Scientific Data. (Scientific Data, December 2025, 12(1))

Frohn, J.; Böddeker, F.; Reichardt, M.; Bruns, H.; Czajka, T.; Salditt, T.; Khan, A.; Alves, F.; Zschüntzsch, J.; Broche, L.; Krisch, M.; Bravin, A.

In: Scientific Reports. (Scientific Reports, December 2025, 15(1))

Tan L; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Translational Pediatrics, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Zschüntzsch J; Neuromuscular Disease Research, Clinic for Neurology, University Medical Center Göttingen (UMG), Göttingen, 37075, Germany.; Meyer S; Neuromuscular Disease Research, Clinic for Neurology, University Medical Center Göttingen (UMG), Göttingen, 37075, Germany.; Stobbe A; Neuromuscular Disease Research, Clinic for Neurology, University Medical Center Göttingen (UMG), Göttingen, 37075, Germany.; Bruex H; Neuromuscular Disease Research, Clinic for Neurology, University Medical Center Göttingen (UMG), Göttingen, 37075, Germany.; Regensburger AP; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Translational Pediatrics, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Claßen M; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Translational Pediatrics, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Alves F; Translational Molecular Imaging, Max-Planck Institute for Multidisciplinary Sciences (MPI-NAT), City Campus, Göttingen, 37075, Germany.; Clinic for Haematology and Medical Oncology, Institute of Diagnostic and Interventional Radiology, University Medical Center Göttingen (UMG), Göttingen, 37075, Germany.; Jüngert J; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Rother U; Department of Vascular Surgery, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Li Y; Department of Vascular Surgery, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Danko V; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Translational Pediatrics, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Lang W; Department of Vascular Surgery, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Türk M; Department of Neurology, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Schmidt S; Institute of Radiology, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Vorgerd M; Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789, Bochum, Germany.; Heimer Institute for Muscle Research, BG-University Hospital Bergmannsheil, 44789, Bochum, Germany.; Schlaffke L; Department of Neurology, BG-University Hospital Bergmannsheil, Ruhr-University Bochum, 44789, Bochum, Germany.; Woelfle J; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Hahn A; Department of Child Neurology, Justus-Liebig-Universität Giessen, 35385, Giessen, Germany.; Mensch A; Department of Neurology, Martin-Luther-Universität Halle-Wittenberg, 06120, Halle (Saale), Germany.; Winterholler M; Sana Krankenhaus Rummelsberg, 90489, Nuremberg/Schwarzenbruck, Germany.; Trollmann R; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Center for Social Pediatrics, University Hospital Erlangen: Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Heiß R; Institute of Radiology, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Wagner AL; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Translational Pediatrics, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Department of Pediatric Neurology, Center for Chronically Sick Children, Charité Berlin, 13353, Berlin, Germany.; Raming R; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Translational Pediatrics, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany.; Knieling F; Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany. ferdinand.knieling@uk-erlangen.de.; Translational Pediatrics, Department of Pediatrics and Adolescent Medicine, University Hospital Erlangen, Friedrich-Alexander-Universität (FAU) Erlangen-Nürnberg, Erlangen, 91054, Germany. ferdinand.knieling@uk-erlangen.de.

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

Mielke, Orell; Bril, Vera; Cornblath, David R.; Lawo, John-Philip; van Geloven, Nan; Hartung, Hans-Peter; Lewis, Richard A.; Merkies, Ingemar S. J.; Sobue, Gen; Durn, Billie; Shebl, Amgad; van Schaik, Ivo N.; Sabet, A.; George, K.; Roberts, L.; Carne, R.; Blum, S.; Henderson, R.; Van Damme, P.; Demeestere, J.; Larue, S.; D'Amour, C.; Kunc, P.; Valis, M.; Sussova, J.; Kalous, T.; Talab, R.; Bednar, M.; Toomsoo, T.; Rubanovits, I.; Gross-Paju, K.; Sorro, U.; Saarela, M.; Auranen, M.; Pouget, J.; Attarian, S.; Le Masson, G.; Wielanek-Bachelet, A.; Desnuelle, C.; Delmont, E.; Clavelou, P.; Aufauvre, D.; Schmidt, J.; Zschuentzsch, J.; Sommer, C.; Kramer, D.; Hoffmann, O.; Goerlitz, C.; Haas, J.; Chatzopoulos, M.; Yoon, R.; Gold, R.; Berlit, P.; Jaspert-Grehl, A.; Liebetanz, D.; Kutschenko, A.; Stangel, M.; Trebst, C.; Baum, P.; Bergh, F.; Klehmet, J.; Meisel, A.; Klostermann, F.; Oechtering, J.; Lehmann, H.; Schroeter, M.; Hagenacker, T.; Mueller, D.; Sperfeld, A.; Bethke, F.; Drory, V.; Algom, A.; Yarnitsky, D.; Murinson, B.; Di Muzio, A.; Ciccocioppo, F.; Sorbi, S.; Mata, S.; Schenone, A.; Grandis, M.; Lauria, G.; Cazzato, D.; Antonini, G.; Morino, S.; Cocito, D.; Zibetti, M.; Yokota, T.; Ohkubo, T.; Kanda, T.; Kawai, M.; Kaida, K.; Onoue, H.; Kuwabara, S.; Mori, M.; Iijima, M.; Ohyama, K.; Baba, M.; Tomiyama, M.; Nishiyama, K.; Akutsu, T.; Yokoyama, K.; Kanai, K.; van Schaik, I. N.; Eftimov, F.; Notermans, N. C.; Visser, N.; Faber, C.; Hoeijmakers, J.; Rejdak, K.; Chyrchel-Paszkiewicz, U.; Casanovas Pons, C.; Antonia, M.; Gamez, J.; Salvado, M.; Infante, C. Marquez; Benitez, S.; Lunn, M.; Morrow, J.; Gosal, D.; Lavin, T.; Melamed, I.; Testori, A.; Ajroud-Driss, S.; Menichella, D.; Simpson, E.; Lai, E. Chi-Ho; Dimachkie, M.; Barohn, R. J.; Beydoun, S.; Johl, H.; Lange, D.; Shtilbans, A.; Muley, S.; Ladha, S.; Freimer, M.; Kissel, J.; Latov, N.; Chin, R.; Ubogu, E.; Mumfrey, S.; Rao, T.; MacDonald, P.; Sharma, K.; Gonzalez, G.; Allen, J.; Walk, D.; Hobson-Webb, L.; Gable, K.

J Peripher Nerv Syst
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
instname
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía

Elgenidy A; Department of Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt. Anas.elgenidy@gmail.com.; Sapoor S; Faculty of Medicine, Benha University, Benha, Egypt.; Abdelrhem H; Faculty of Science, Cairo University, Cairo, Egypt.; Ali AS; Department of Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.; Sulliman S; Faculty of Medicine, Cairo, Egypt.; Hedawy S; Faculty of Medicine, Al-Azhar Assiut University, Assiut, Egypt.; Elgharori A; Faculty of Medicine, Zagazig University, Zagazig, Egypt.; Mady H; Department of Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.; Hasan WA; Faculty of Medicine, Omar Al-Mukhtar University, Bayda, Libya.; Nasser M; Faculty of Medicine, Minia University, Al Minya, Egypt.; Atta EAE; Faculty of Medicine, Zagazig University, Zagazig, Egypt.; Ghita M; Department of Neurology, Faculty of Medicine, Cairo University, Cairo, Egypt.; Aly MG; Nephrology Section, Sana-Klinikum Hof, Hof, Germany.; Nephrology Unit, Internal Medicine Department, Assiut University, Assiut, Egypt.; Zschüntzsch J; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.

Publisher: Springer Country of Publication: Japan NLM ID: 9709923 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1437-7799 (Electronic) Linking ISSN: 13421751 NLM ISO Abbreviation: Clin Exp Nephrol Subsets: MEDLINE

Hübner M; Berlin Institute of Health at Charité, Berlin, Germany.; Nyoungui E; University Medical Center Goettingen, Goettingen, Germany.; Gazzero E; Experimental and Clinical Research Center, Max Delbrück Center, Berlin, Germany.; Hassoun L; University Medical Center Goettingen, Goettingen, Germany.; Zschüntzsch J; University Medical Center Goettingen, Goettingen, Germany.; Krefting D; University Medical Center Goettingen, Goettingen, Germany.; Schepers J; Berlin Institute of Health at Charité, Berlin, Germany.; Röttgerd R; University of Southern Denmark, Odense, Denmark.

Publisher: IOS Press Country of Publication: Netherlands NLM ID: 9214582 Publication Model: Print Cited Medium: Internet ISSN: 1879-8365 (Electronic) Linking ISSN: 09269630 NLM ISO Abbreviation: Stud Health Technol Inform Subsets: MEDLINE

Merkies I. S. J.; van Schaik I. N.; Leger J. -M.; Bril V.; van Geloven N.; Hartung H. -P.; Lewis R. A.; Sobue G.; Lawo J. -P.; Durn B. L.; Cornblath D. R.; De Bleecker J. L.; Sommer C.; Robberecht W.; Saarela M.; Kamienowski J.; Stelmasiak Z.; Tackenberg B.; Mielke O.; Sabet A.; George K.; Roberts L.; Carne R.; Blum S.; Henderson R.; Van Damme P.; Demeestere J.; Larue S.; D'Amour C.; Kunc P.; Valis M.; Sussova J.; Kalous T.; Talab R.; Bednar M.; Toomsoo T.; Rubanovits I.; Gross-Paju K.; Sorro U.; Auranen M.; Pouget J.; Attarian S.; Masson G. L.; Wielanek-Bachelet A.; Desnuelle C.; Delmont E.; Clavelou P.; Aufauvre D.; Schmidt J.; Zschuentzsch J.; Kramer D.; Hoffmann O.; Goerlitz C.; Haas J.; Chatzopoulos M.; Yoon R.; Gold R.; Berlit P.; Jaspert-Grehl A.; Liebetanz D.; Kutschenko A.; Stangel M.; Trebst C.; Baum P.; Bergh F.; Klehmet J.; Meisel A.; Klostermann F.; Oechtering J.; Lehmann H.; Schroeter M.; Hagenacker T.; Mueller D.; Sperfeld A.; Bethke F.; Drory V.; Algom A.; Yarnitsky D.; Murinson B.; Di Muzio A.; Ciccocioppo F.; Sorbi S.; Mata S.; Schenone A.; Grandis M.; Lauria G.; Cazzato D.; Antonini G.; Morino S.; Cocito D.; Zibetti M.; Yokota T.; Ohkubo T.; Kanda T.; Kawai M.; Kaida K.; Onoue H.; Kuwabara S.; Mori M.; Iijima M.; Ohyama K.; Baba M.; Tomiyama M.; Nishiyama K.; Akutsu T.; Yokoyama K.; Kanai K.; Eftimov F.; Notermans N. C.; Visser N.; Faber C.; Hoeijmakers J.; Rejdak K.; Chyrchel-Paszkiewicz U.; Casanovas Pons C.; Antonia M.; Gamez J.; Salvado M.; Infante C. M.; Benitez S.; Lunn M.; Morrow J.; Gosal D.; Lavin T.; Melamed I.; Testori A.; Ajroud-Driss S.; Menichella D.; Simpson E.; Lai E. C. -H.; Dimachkie M.; Barohn R. J.; Beydoun S.; Johl H.; Lange D.; Shtilbans A.; Muley S.; Ladha S.; Freimer M.; Kissel J.; Latov N.; Chin R.; Ubogu E.; Mumfrey S.; Rao T.; MacDonald P.; Sharma K.; Gonzalez G.; Allen J.; Walk D.; Hobson-Webb L.; Gable K.; Franques J.; Morales R. J.; Nguento A.; Schrey C.; Zwolinska G.

J Peripher Nerv Syst
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
instname
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

Funke M; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, 48149, Münster, Germany.; Eveslage M; Institute of Biostatistics and Clinical Research, University of Münster, 48149, Münster, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center Göttingen, Georg-August University, 37075, Göttingen, Germany.; Hagenacker T; Department of Neurology, Center for Translational Neuro- and Behavioral Sciences (C-TNBS), University Hospital Essen, Hufelandstr. 55, 45147, Essen, Germany.; Ruck T; Department of Neurology, Medical Faculty and University Hospital Düsseldorf, Heinrich Heine University Düsseldorf, Düsseldorf, Germany.; Schubert C; Institute of Neuroimmunology and Multiple Sclerosis (INIMS), University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Schroeter M; Department of Neurology, University Cologne and University Hospital, Cologne, Germany.; Meisel A; Charité - Universitätsmedizin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Center for Stroke Research Berlin, Charitéplatz 1, 10117, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.; Wiendl H; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, 48149, Münster, Germany.; Hoffmann S; Charité - Universitätsmedizin, Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin, Center for Stroke Research Berlin, Charitéplatz 1, 10117, Berlin, Germany.; Berlin Institute of Health at Charité - Universitätsmedizin Berlin, Charitéplatz 1, 10117, Berlin, Germany.; Lünemann JD; Department of Neurology with Institute of Translational Neurology, University Hospital Münster, 48149, Münster, Germany. jan.luenemann@ukmuenster.de.

Publisher: Springer-Verlag Country of Publication: Germany NLM ID: 0423161 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-1459 (Electronic) Linking ISSN: 03405354 NLM ISO Abbreviation: J Neurol Subsets: MEDLINE

Scodellaro R; Translational Molecular Imaging, Max-Planck-Institute for Multidisciplinary Sciences, Göttingen, Germany.; Zschüntzsch J; Department of Neurology, University Medical Center Göttingen, Göttingen, Germany.; Hell AK; Pediatric Orthopaedics, Department for Trauma Surgery, Orthopaedics and Plastic Surgery, University Medical Center Göttingen, Göttingen, Germany.; Alves F; Translational Molecular Imaging, Max-Planck-Institute for Multidisciplinary Sciences, Göttingen, Germany; Institute for Diagnostic and Interventional Radiology, University Medical Center Göttingen, Göttingen, Germany; Clinic for Haematology and Medical Oncology, University Medical Center Göttingen, Göttingen, Germany; Cluster of Excellence 'Multiscale Bioimaging: from Molecular Machines to Networks of Excitable Cells' (MBExC), University of Göttingen, Göttingen, Germany. Electronic address: falves@gwdg.de.

Publisher: Elsevier Scientific Publishers Country of Publication: Ireland NLM ID: 8506513 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1872-7565 (Electronic) Linking ISSN: 01692607 NLM ISO Abbreviation: Comput Methods Programs Biomed Subsets: MEDLINE

Graefe ASL; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Germany.; Institute for Biomedical Informatics, University Hospital Cologne, Germany.; Rehburg F; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Germany.; Alkarkoukly S; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Danis D; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Germany.; Grönke A; Medical Data Integration Center (MeDIC), University of Cologne, Faculty of Medicine and University Hospital Cologne, Cologne, Germany.; Hübner MR; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Germany.; Bartschke A; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Germany.; Debertshäuser T; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Germany.; Klopfenstein SAI; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Germany.; Saß J; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Germany.; Fleck J; Center for Rare Diseases, Medical Faculty, RWTH Aachen University, Aachen, Germany.; Rehberg M; 5. Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany.; Zschüntzsch J; Department of Neurology, University Medical Center Goettingen, Germany.; Nyoungui EF; Department of Medical Informatics, University Medical Center Goettingen, Germany.; Kalashnikova T; Section of Hematology and Immunology, Alberta Children's Hospital.; University of Calgary, Calgary, Canada.; Murguía-Favela L; Section of Hematology and Immunology, Alberta Children's Hospital.; University of Calgary, Calgary, Canada.; Derfalvi B; Department of Pediatrics, Division of Immunology, Dalhousie University, IWK Health, Halifax, NS, Canada.; Wright NAM; Section of Hematology and Immunology, Alberta Children's Hospital.; University of Calgary, Calgary, Canada.; Moosa S; Division of Molecular Biology and Human Genetics, Stellenbosch University, Cape Town, South Africa.; Medical Genetics, Tygerberg Hospital, Cape Town, South Africa.; Ogishima S; INGEM, Tohoku University, Miyagi, Japan.; Department of Informatics for Genomic Medicine, ToMMo, Tohoku University, Miyagi, Japan.; Semler O; 5. Department of Pediatrics and Adolescent Medicine, Faculty of Medicine and University Hospital Cologne University of Cologne Cologne Germany.; Wiegand S; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Center for Chronically Sick Children, Charité Universitätsmedizin Berlin, Germany.; Kühnen P; Department of Pediatric Endocrinology and Diabetology, Charité University Hospital, Berlin, Germany.; Berlin Center for Rare Diseases - Charité University Hospital, Berlin, Germany.; Deutsches Zentrum für Kinder- und Jugendgesundheit (DZKJ), partner site Berlin, Germany.; Mungall CJ; Division of Environmental Genomics and Systems Biology, Lawrence Berkeley National Laboratory, Berkeley, CA, USA.; Haendel MA; Department of Genetics, University of North Carolina Chapel Hill, USA.; Robinson PN; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Germany.; The Jackson Laboratory for Genomic Medicine, Farmington, Connecticut, United States.; Thun S; Berlin Institute of Health at Charité Universitätsmedizin Berlin, Germany.; Beyan O; Institute for Biomedical Informatics, University Hospital Cologne, Germany.

Country of Publication: United States NLM ID: 101767986 Publication Model: Electronic Cited Medium: Internet NLM ISO Abbreviation: medRxiv Subsets: PubMed not MEDLINE

Garnier N; Pfizer Inc., Collegeville, Pennsylvania, United States of America.; Berghout J; Pfizer Inc., Collegeville, Pennsylvania, United States of America.; Zygmunt A; Pfizer Inc., Collegeville, Pennsylvania, United States of America.; Singh D; Pfizer Inc., Collegeville, Pennsylvania, United States of America.; Huang KA; Pfizer Inc., Collegeville, Pennsylvania, United States of America.; Kantz W; Pfizer Inc., Collegeville, Pennsylvania, United States of America.; Blankart CR; KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland.; Gillner S; KPM Center for Public Management and Swiss Institute for Translational and Entrepreneurial Medicine, University of Bern, Bern, Switzerland.; Zhao J; Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark.; Roettger R; Department of Mathematics and Computer Science, University of Southern Denmark, Odense, Denmark.; Saier C; Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Kirschner J; Department of Neuropediatric and Muscle Disorders, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, Germany.; Schenk J; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.; Atkins L; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.; Ryan N; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.; Zarakowska K; Takeda Pharmaceuticals International AG, Opfikon, Switzerland.; Zschüntzsch J; Department of Neurology, University Medical Center Goettingen, Göttingen, Germany.; Zuccolo M; F. Hoffmann La-Roche, Basel, Switzerland.; Müllenborn M; Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark.; Man YS; Novo Nordisk Health Care AG, Switzerland &Novo Nordisk A/S, Kloten, Denmark.; Goodman L; University College Dublin, National University of Ireland, Dublin, Ireland.; Trad M; Lysogene, Neuilly-sur-Seine, France.; Chalandon AS; Sanofi, Diegem, Belgium.; Sansen S; Sanofi, Diegem, Belgium.; Martinez-Fresno M; Illumina, Cambridge, United Kingdom.; Badger S; Illumina, Cambridge, United Kingdom.; Walther van Olden R; Novartis Gene Therapies Switzerland GmbH, Risch-Rotkreuz, Switzerland.; Rothmann R; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria.; Lehner P; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria.; Tschohl C; Research Institute AG & Co KG, Digital Human Rights Center, Wien, Austria.; Baillon L; PTC Therapeutics Switzerland GmbH, Steinhausen, Switzerland.; Gumus G; EURORDIS, Paris, France.; Gross E; EURORDIS, Paris, France.; Stefanov R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.; Iskrov G; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.; Raycheva R; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.; Kostadinov K; Department of Social Medicine and Public Health, Faculty of Public Health, Medical University of Plovdiv, Plovdiv, Bulgaria.; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.; Mitova E; Bulgarian Association for Promotion of Education and Science, Institute for Rare Disease, Plovdiv, Bulgaria.; Einhorn M; Genoox, Tel Aviv, Israel.; Einhorn Y; Genoox, Tel Aviv, Israel.; Schepers J; Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany.; Hübner M; Berlin Institute of Health (at) Charité - Universitätsmedizin Berlin, Berlin, Germany.; Alves F; Translational Molecular Imaging, Max Planck Institute for Multidisciplinary Sciences, Göttingen, Germany.; Clinic of Hematology and Medical Oncology, University Medical Center, Göttingen, Germany.; Institute for Diagnostic and Interventional Radiology, University Medical Center, Göttingen, Germany.; Iskandar R; Swiss Institute for Translational and Entrepreneurial Medicine (sitem-insel), Bern, Switzerland.; Mayer R; SBA Research gGmbH, Wien, Austria.; Renieri A; Medical Genetics, University of Siena, Siena, Italy.; Piperkova A; Bulgarian Association for Personalized Medicine, Sofia, Bulgaria.; Gut I; Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain.; Beltran S; Centro Nacional de Analisis Genomico, CNAG, Barcelona, Spain.; Matthiesen ME; FindZebra APS, Copenhagen, Denmark.; Poetz M; Department of Strategy and Innovation, Copenhagen Business School, Copenhagen, Denmark.; Hansson M; Uppsala University, Uppsala, Sweden.; Trollmann R; University of Erlangen, Erlangen, Germany.; Agolini E; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.; Ottombrino S; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.; Novelli A; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.; Bertini E; Bambino Gesu' Children Hospital, IRCCS, Rome, Italy.; Selvatici R; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Farnè M; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Fortunato F; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.; Ferlini A; Medical Genetics, Department of Medical Sciences, University of Ferrara, Ferrara, Italy.

Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet ISSN: 1932-6203 (Electronic) Linking ISSN: 19326203 NLM ISO Abbreviation: PLoS One Subsets: MEDLINE