부산대학교 도서관

Currò, Riccardo; Dominik, Natalia; Facchini, Stefano; Vegezzi, Elisa; Sullivan, Roisin; Galassi Deforie, Valentina; Fernández-Eulate, Gorka; Traschütz, Andreas; Rossi, Salvatore; Garibaldi, Matteo; Kwarciany, Mariusz; Taroni, Franco; Brusco, Alfredo; Good, Jean-Marc; Cavalcanti, Francesca; Hammans, Simon; Ravenscroft, Gianina; Roxburgh, Richard H; Albájar, Inés; Ashton, Catherine; Beauchamp, Nick; Beecroft, Sarah J; Bellone, Emilia; Berciano, Josè; Bogdanova-Mihaylova, Petya; Borroni, Barbara; Brais, Bernard; Bugiardini, Enrico; Campos, Catarina; Carr, Aisling; Carroll, Liam; Castellani, Francesca; Cavallaro, Tiziana; Chinnery, Patrick F; Colnaghi, Silvia; Cosentino, Giuseppe; Damasio, Joana; Das, Soma; Devigili, Grazia; Di Bella, Daniela; Dick, David; Durr, Alexandra; El-Saddig, Amar; Faber, Jennifer; Ferrarini, Moreno; Filosto, Massimiliano; Fuller, Geraint; Gallone, Salvatore; Gemelli, Chiara; Grandis, Marina; Hardy, John; Hewamadduma, Channa; Horvath, Rita; Huin, Vincent; Imperiale, Daniele; Iruzubieta, Pablo; Kaski, Diego; King, Andrew; Klockgether, Thomas; Koç, Müge; Kumar, Kishore R; Kuntzer, Thierry; Laing, Nigel; Laurà, Matilde; Lavin, Timothy; Leigh, Peter Nigel; Leonardis, Lea; Lunn, Michael P; Magri, Stefania; Magrinelli, Francesca; Malaquias, Maria João; Mancuso, Michelangelo; Manji, Hadi; Massucco, Sara; McConville, John; Munhoz, Renato P; Nagy, Sara; Ndayisaba, Alain; Nemeth, Andrea Hilary; Novis, Luiz Eduardo; Palmio, Johanna; Pegoraro, Elena; Pellerin, David; Perrone, Benedetta; Pisciotta, Chiara; Polke, James; Proudfoot, Malcolm; Orsi, Laura; Radunovic, Aleksandar; Riva, Nilo; Robert, Aiko; Ronco, Riccardo; Rossini, Elena; Rossor, Alex M; Şahbaz, Irmak; Sa’di, Qais; Salsano, Ettore; Salvalaggio, Alessandro; Santoro, Lucio; Sarto, Elisa; Schaefer, Andrew; Schenone, Angelo; Scriba, Carolin; Shaw, Joseph; Silvestri, Gabriella; Stevens, James; Strupp, Michael; Sumner, Charlotte J; Szymura, Agnieszka; Tagliapietra, Matteo; Tassorelli, Cristina; Tessa, Alessandra; Theaudin, Marie; Tomaselli, Pedro; Tozza, Stefano; Tucci, Arianna; Valente, Enza Maria; Versino, Maurizio; Walsh, Richard A; Wood, Nick W; Yau, Way Yan; Zuchner, Stephan; Parolin Schnekenberg, Ricardo; Rugginini, Bianca; Abati, Elena; Manini, Arianna; Quartesan, Ilaria; Ghia, Arianna; Lòpez de Munaìn, Adolfo; Manganelli, Fiore; Kennerson, Marina; Santorelli, Filippo Maria; Infante, Jon; Marques, Wilson; Jokela, Manu; Murphy, Sinéad M; Mandich, Paola; Fabrizi, Gian Maria; Briani, Chiara; Gosal, David; Pareyson, Davide; Ferrari, Alberto; Prados, Ferran; Yousry, Tarek; Khurana, Vikram; Kuo, Sheng-Han; Miller, James; Troakes, Claire; Jaunmuktane, Zane; Giunti, Paola; Hartmann, Annette; Basak, Nazli; Synofzik, Matthis; Stojkovic, Tanya; Hadjivassiliou, Marios; Reilly, Mary M; Houlden, Henry; Cortese, Andrea; null, null

Brain
O2, repositorio institucional de la UOC
Universitat Oberta de Catalunya (UOC)
Brain 147(5), 1887-1898 (2024). doi:10.1093/brain/awad436
Brain, vol. 147, no. 5, pp. 1887-1898

Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Taylor LS; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, United Kingdom.; Sedighzadeh S; Department of Biological Science, Faculty of Science, Shahid Chamran University of Ahvaz, Ahvaz 6135783151, Iran.; Dr Shahrooei Laboratory, Tehran 1476693993, Iran.; Moualek D; Service de Neurologie, CHU Mustapha Bacha, Alger 16000, Algeria.; Université Benyoucef Benkhedda, Alger 16000, Algeria.; Severino M; Neuroradiology Unit, IRCCS Istituto Giannina Gaslini, Genova 16147, Italy.; Grba DN; Medical Research Council Mitochondrial Biology Unit, University of Cambridge, Cambridge CB2 0XY, United Kingdom.; Alston CL; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, United Kingdom.; Champion M; Department of Paediatric Inherited Metabolic Disease, Evelina London Children's Hospital, Guy's and St Thomas' NHS Foundation Trust, London SE1 7EH, United Kingdom.; Tavasoli AR; Department of Neurology, Barrow Neurological Institute at Phoenix Children's Hospital, Phoenix, AZ 85016, USA.; Myelin Disorders Clinic, Pediatric Neurology Division, Children's Medical Center, Tehran University of Medical Sciences, Tehran 1419733151, Iran.; Lascelles K; Children's Neuroscience Centre, Evelina London Children's Hospital, Guy's and St Thomas' NHS Trust, London SE1 7EH, United Kingdom.; Gowda VK; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka 560029, India.; Srinivasan VM; Department of Pediatric Neurology, Indira Gandhi Institute of Child Health, Near NIMHANS, Bengaluru, Karnataka 560029, India.; Fateh ST; School of Medicine, Tehran University of Medical Sciences (TUMS), Tehran 1416634793, Iran.; Kordi-Tamandani M; Department of Biology, Faculty of Science, University of Sistan and Baluchestan, Zahedan 9816745785, Iran.; Khajeh A; Children and Adolescent Health Research Center, School of Medicine, Resistant Tuberculosis Institute, Zahedan University of Medical Sciences, Zahedan 9816743463, Iran.; Yaghoubi S; Department of Pediatrics, School of Medicine, Children and Adolescents Health Research Center, Research Institute of Cellular and Molecular Science in Infectious Diseases, Zahedan University of Medical Sciences, Zahedan 9816743463, Iran.; Dominik N; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.; Babaei M; Department of Pediatrics, North Khorasan University of Medical Science, Bojnourd 9417694735, Iran.; Javadzadeh M; Department of Pediatric Neurology, Shahid Beheshti University of Medical Sciences, Tehran 1983969367, Iran.; Varaghchi JR; Hasti Genetic Counseling Center of Welfare Organization of Southern Khorasan, Birjand 9719866879, Iran.; Miryounesi M; Center for Comprehensive Genetic Services, Shahid Beheshti University of Medical Sciences, Tehran 1985717413, Iran.; Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran 1985717443, Iran.; Ghayoor Karimiani E; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.; Tazir M; Service de Neurologie, CHU Mustapha Bacha, Alger 16000, Algeria.; Université Benyoucef Benkhedda, Alger 16000, Algeria.; Ali Pacha L; Service de Neurologie, CHU Mustapha Bacha, Alger 16000, Algeria.; Université Benyoucef Benkhedda, Alger 16000, Algeria.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, United Kingdom.; Taylor RW; Mitochondrial Research Group, Translational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Newcastle upon Tyne NE2 4HH, United Kingdom.; NHS Highly Specialised Service for Rare Mitochondrial Disorders, Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne NE1 4LP, United Kingdom.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.; Maroofian R; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, United Kingdom.

Publisher: Oxford University Press Country of Publication: England NLM ID: 101755125 Publication Model: eCollection Cited Medium: Internet ISSN: 2632-1297 (Electronic) Linking ISSN: 26321297 NLM ISO Abbreviation: Brain Commun Subsets: PubMed not MEDLINE

Magrinelli, F.; Tesson, C.; Angelova, P. R.; Salazar-Villacorta, A.; Rodriguez, J. A.; Scardamaglia, A.; Chung, B. H.; Jaconelli, M.; Vona, B.; Esteras, N.; Kwong, A. K.; Courtin, T.; Maroofian, R.; Alavi, S.; Nirujogi, R.; Severino, M.; Lewis, P. A.; Efthymiou, S.; O'Callaghan, B.; Buchert, R.; Sofan, L.; Lis, P.; Pinon, C.; Breedveld, G. J.; Chui, M. M.; Murphy, D.; Pitz, V.; Makarious, M. B.; Cassar, M.; Hassan, B. A.; Iftikhar, S.; Rocca, C.; Bauer, P.; Tinazzi, M.; Svetel, M.; Samanci, B.; Hanağası, H. A.; Bilgiç, B.; Obeso, J. A.; Kurtis, M. M.; Cogan, G.; Başak, A. N.; Kiziltan, G.; Gül, T.; Yalçın, G.; Elibol, B.; Barišić, N.; Ng, E. W.; Fan, S. S.; Hershkovitz, T.; Weiss, K.; Raza Alvi, J.; Sultan, T.; Azmi Alkhawaja, I.; Froukh, T.; HA, E. Alrukban; Fauth, C.; Schatz, U. A.; Zöggeler, T.; Zech, M.; Stals, K.; Varghese, V.; Gandhi, S.; Blauwendraat, C.; Hardy, J. A.; Lesage, S.; Bonifati, V.; Haack, T. B.; Bertoli-Avella, A. M.; Steinfeld, R.; Alessi, D. R.; Steller, H.; Brice, A.; Abramov, A. Y.; Bhatia, K. P.; Houlden, H.

medRxiv

Nagy, S; Carr, A; Mroczek, M; Rinaldi, S; Curro, R; Dominik, N; Japzon, N; Magrinelli, F; Lunn, MP; Manji, H; Reilly, MM; Cortese, A; Houlden, H

Brain Commun

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

Moura J; Department of Neurology, Unidade Local de Saúde de Santo António, Porto, Portugal.; ICBAS School of Medicine and Biomedical Sciences, University of Porto, Porto, Portugal.; Unit of Multidisciplinary Research in Biomedicine (UMIB), ICBAS, University of Porto, Porto, Portugal.; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Balint B; Department of Neurology, University Hospital Zurich, and University of Zurich, Switzerland.; Cullinane P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Alhashash H; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Latorre A; 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.

Publisher: Wiley Country of Publication: United States NLM ID: 101630279 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2330-1619 (Electronic) Linking ISSN: 23301619 NLM ISO Abbreviation: Mov Disord Clin Pract Subsets: MEDLINE

Costanzo, M.; Belvisi, D.; Pellicciari, R.; Fabbrini, A.; Ressa, G.; Pietracupa, S.; De Lucia, M.; Modugno, N.; Magrinelli, F.; Dallocchio, C.; Ercoli, T.; Nicoletti, A.; Zappia, M.; Solla, P.; Bologna, M.; Fabbrini, G.; Tinazzi, M.; Conte, A.; Berardelli, A.; Defazio, G.

Parkinsonism and Related Disorders. 113

Luo W; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.; Liangzhu Laboratory, Zhejiang University School of Medicine, Hangzhou, China.; Cen Z; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.; Koek H; Department of Geriatrics, University Medical Center Utrecht, Utrecht, The Netherlands.; Carecchio M; Department of Neuroscience, University of Padua, Padua, Italy.; Hozumi I; Laboratory of Medical Therapeutics and Molecular Therapeutics, Gifu Pharmaceutical University, Gifu, Japan.; Chen WJ; Fujian Key Laboratory of Molecular Neurology, Department of Neurology, the First Affiliated Hospital, Institute of Neuroscience, Fujian Medical University, Fuzhou, China.; Batla A; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Balck A; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.; Department of Neurology, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Yang D; Department of Neurology, The Second Affiliated Hospital, Zhejiang University School of Medicine, Hangzhou, China.; Cheng X; Lin Gang Laboratory, Shanghai, China.; Westenberger A; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.; Kakita A; Department of Pathology, Brain Research Institute, Niigata University, Niigata, Japan.; Chen L; Department of Laboratory Medicine and Pathology, University of Minnesota Medical School, Minneapolis, Minnesota, USA.; Lambert C; Department of Imaging Neuroscience, UCL Queen Square Institute of Neurology, University College London, London, UK.; Liu JY; Center for Excellence in Brain Science and Intelligence Technology, Institute of Neuroscience and State Key Laboratory of Neuroscience, Chinese Academy of Sciences, Shanghai, China.; Keller A; Department of Neurosurgery, Clinical Neuroscience Center, University Hospital Zurich, University of Zurich, Zurich, Switzerland.; Oliveira JRM; Neuropsychiatry Department, Universidade Federal de Pernambuco, Recife, Brazil.; Xiong ZQ; Center for Excellence in Brain Science and Intelligence Technology, Institute of Neuroscience and State Key Laboratory of Neuroscience, Chinese Academy of Sciences, Shanghai, China.; School of Future Technology, University of Chinese Academy of Sciences, Beijing, China.; Houlden H; Department of Neuromuscular Diseases, 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.; Klein C; Institute of Neurogenetics, University of Lübeck and University Hospital Schleswig-Holstein, Lübeck, Germany.; Nicolas G; Univ Rouen Normandie, Normandie Univ, Inserm U1245 and CHU Rouen, Department of Genetics and CNR-MAJ, Rouen, France.

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

Zago E.; Dal Molin A.; Dimitri G. M.; Xumerle L.; Pirazzini C.; Bacalini M. G.; Maturo M. G.; Azevedo T.; Spasov S.; Gomez-Garre P.; Perinan M. T.; Jesus S.; Baldelli L.; Sambati L.; Calandra Buonaura G.; Garagnani P.; Provini F.; Cortelli P.; Mir P.; Trenkwalder C.; Mollenhauer B.; Franceschi C.; Lio P.; Nardini C.; Adarmes-Gomez A.; Bartoletti-Stella A.; Bhatia K. P.; Marta B. -T.; Boninsegna C.; Broli M.; Dolores B. -R.; Calandra-Buonaura G.; Capellari S.; Carrion-Claro M.; Cilea R.; Clayton R.; Molin A. D.; De Luca S.; De Massis P.; Doykov I.; Escuela-Martin R.; Fabbri G.; Gabellini A.; Giuliani C.; Guaraldi P.; Hagg S.; Hallqvist J.; Halsband C.; Heywood W.; Houlden H.; Huertas I.; Jylhava J.; Labrador-Espinosa M. A.; Licari C.; Luchinat C.; Macias D.; Macri S.; Magrinelli F.; Rodriguez J. F. M.; Massimo D.; Mengozzi G.; Meoni G.; Mignani F.; Milazzo M.; Mills K.; Nassetti S. A.; Pedersen N. L.; Perinan-Tocino M. T.; Ravaioli F.; Sala C.; Scaglione C. L. M.; Schade S.; Schreglmann S.; Strom S.; Tejera-Parrado C.; Tenori L.; Turano P.; Valzania F.; Ortega R. V.; Williams D.

Sci Rep
Digital.CSIC. Repositorio Institucional del CSIC
Consejo Superior de Investigaciones Científicas (CSIC)
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
instname
Scientific Reports, Vol 12, Iss 1, Pp 1-13 (2022)

Wijngaard, R; Demidov, G; O’Gorman, L; Corominas-Galbany, J; Yaldiz, B; Steyaert, W; de Boer, E; Vissers, LELM; Kamsteeg, EJ; Pfundt, R; Swinkels, H; den Ouden, A; te Paske, IBAW; de Voer, RM; Faivre, L; Denommé-Pichon, AS; Duffourd, Y; Vitobello, A; Chevarin, M; Straub, V; Töpf, A; van der Kooi, AJ; Magrinelli, F; Rocca, C; Hanna, MG; Vandrovcova, J; Ossowski, S; Laurie, S; Gilissen, C

European journal of human genetics.

Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Jesuthasan A; Department of Neurology, Addenbrooke's Hospital, Cambridge, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Batla A; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK a.batla@ucl.ac.uk.; Department of Neurology, Royal Free London NHS Foundation Trust Hospital, London, UK.

Publisher: BMJ Pub. Group Country of Publication: England NLM ID: 101130961 Publication Model: Electronic Cited Medium: Internet ISSN: 1474-7766 (Electronic) Linking ISSN: 14747758 NLM ISO Abbreviation: Pract Neurol Subsets: MEDLINE

Gigante AF; Section of Neurology, San Paolo Hospital, Bari, Italy.; Vitucci B; Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.; Velucci V; Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.; Pellicciari R; Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.; Modugno N; IRCCS Neuromed Institute, Pozzilli, Italy.; Pietracupa S; IRCCS Neuromed Institute, Pozzilli, Italy.; Department of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.; De Bartolo MI; IRCCS Neuromed Institute, Pozzilli, Italy.; Department of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.; Costanzo M; Department of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.; Department of Neuroscience, Istituto Superiore di Sanità, Rome, Italy.; Terravecchia C; Department of Medical, Surgical Sciences and Advanced Technologies 'GF Ingrassia', University of Catania, Catania, Italy.; Mascia MM; Neurology Unit, University Hospital of Cagliari, Cagliari, Italy.; Muroni A; Neurology Unit, University Hospital of Cagliari, Cagliari, Italy.; Ercoli T; Department of Neurology, University of Sassari, Sassari, Italy.; Solla P; Department of Neurology, University of Sassari, Sassari, Italy.; Magrinelli F; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; Conte A; IRCCS Neuromed Institute, Pozzilli, Italy.; Department of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.; Fabbrini G; IRCCS Neuromed Institute, Pozzilli, Italy.; Department of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.; Nicoletti A; Department of Medical, Surgical Sciences and Advanced Technologies 'GF Ingrassia', University of Catania, Catania, Italy.; Tinazzi M; Department of Neurosciences, Biomedicine and Movement Sciences, University of Verona, Verona, Italy.; Berardelli A; IRCCS Neuromed Institute, Pozzilli, Italy.; Department of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.; Defazio G; Department of Translational Biomedicine and Neuroscience, University of Bari Aldo Moro, Bari, Italy.; IRCCS Neuromed Institute, Pozzilli, Italy.; Belvisi D; IRCCS Neuromed Institute, Pozzilli, Italy.; Department of Human Neurosciences, University of Rome La Sapienza, Rome, Italy.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101567362 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1877-718X (Electronic) Linking ISSN: 18777171 NLM ISO Abbreviation: J Parkinsons Dis Subsets: MEDLINE

Baldelli L.; Schade S.; Jesus S.; Schreglmann S. R.; Sambati L.; Gomez-Garre P.; Halsband C.; Calandra Buonaura G.; Adarmes-Gomez A. D.; Sixel-Doring F.; Zenesini C.; Pirazzini C.; Garagnani P.; Bacalini M. G.; Bhatia K. P.; Cortelli P.; Mollenhauer B.; Franceschi C.; Houlden H.; Lio P.; Luchinat C.; Delledonne M.; Mills K.; Pedersen N. L.; Azevedo T.; Bartoletti-Stella A.; Bonilla-Toribio M.; Buiza-Rueda D.; Capellari S.; Carrion-Claro M.; Clayton R.; Dal Molin A.; Dimitri G. M.; Doykov I.; Giuliani C.; Hagg S.; Hallqvist J.; Heywood W.; Huertas I.; Jylhava J.; Labrador-Espinosa M. A.; Licari C.; Macias D.; Magrinelli F.; Rodriguez J. F. M.; Maturo M. G.; Mengozzi G.; Meoni G.; Milazzo M.; Nardini C.; Perinan-Tocino M. T.; Ravaioli F.; Sala C.; Spasov S.; Tejera-Parrado C.; Tenori L.; Paola T.; Williams D.; Xumerle L.; Zago E.; Broli M.; De Massis P.; Escuela-Martin R.; Fabbri G.; Gabellini A.; Guaraldi P.; Macri S.; Nassetti S. A.; Scaglione C. L. M.; Valzania F.; Rosaria C.; Mignani F.; Ortega R. V.; Boninsegna C.; De Luca S.; Mir P.; Trenkwalder C.; Provini F.

NPJ Parkinsons Dis
Digital.CSIC. Repositorio Institucional del CSIC
instname
RISalud-ANDALUCIA. Repositorio Institucional de Salud de Andalucía
Consejo Superior de Investigaciones Científicas (CSIC)
NPJ Parkinson's disease 7 (2021). doi:10.1038/s41531-021-00219-1
info:cnr-pdr/source/autori:Baldelli, Luca; Schade, Sebastian; Jesús, Silvia; Schreglmann, Sebastian R.; Sambati, Luisa; Gómez-Garre, Pilar; Halsband, Claire; Calandra-Buonaura, Giovanna; Adarmes-Gómez, Astrid Daniela; Sixel-Döring, Friederike; Zenesini, Corrado; Pirazzini, Chiara; Garagnani, Paolo; Bacalini, Maria Giulia; Bhatia, Kailash P.; Cortelli, Pietro; Mollenhauer, Brit; Franceschi, Claudio; Houlden, Henry; Liò, Pietro; Luchinat, Claudio; Delledonne, Massimo; Mills, Kevin; Pedersen, Nancy L.; Azevedo, Tiago; Bartoletti-Stella, Anna; Bonilla-Toribio, Marta; Buiza-Rueda, Dolores; Capellari, Sabina; Carriòn-Claro, Mario; Clayton, Robert; Dal Molin, Alessandra; Dimitri, Giovanna Maria; Doykov, Ivan; Giuliani, Cristina; Hägg, Sara; Hällqvist, Jenny; Heywood, Wendy; Huertas, Ismael; Jylhävä, Juulia; Labrador-Espinosa, Miguel A.; Licari, Cristina; Macias, Daniel; Magrinelli, Francesca; Rodríguez, Juan Francisco Martín; Maturo, Maria Giovanna; Mengozzi, Giacomo; Meoni, Gaia; Milazzo, Maddalena; Nardini, Christine; Pedersen, Nancy L.; Periñán-Tocino, Maria Teresa; Ravaioli, Francesco; Sala, Claudia; Spasov, Simeon; Tejera-Parrado, Cristina; Tenori, Leonardo; Paola, Turano; Williams, Dylan; Xumerle, Luciano; Zago, Elisa; Broli, Marcella; Buiza-Rueda, Dolores; De Massis, Patrizia; Escuela-Martin, Rocio; Fabbri, Giovanni; Gabellini, Anna; Guaraldi, Pietro; Houlden, Henry; Macrì, Stefania; Nassetti, Stefania Alessandra; Scaglione, Cesa Lorella Maria; Valzania, Franco; Rosaria, Cilea; Mignani, Francesco; Ortega, Rosario Vigo; Boninsegna, Claudia; De Luca, Silvia; Mir, Pablo; Trenkwalder, Claudia; Provini, Federica/titolo:Heterogeneity of prodromal Parkinson symptoms in siblings of Parkinson disease patients/doi:10.1038%2Fs41531-021-00219-1/rivista:NPJ Parkinson's disease/anno:2021/pagina_da:/pagina_a:/intervallo_pagine:/volume:7
npj Parkinson's Disease, Vol 7, Iss 1, Pp 1-10 (2021)

Svorenova T; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.; Romito LM; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Kaymak A; The BioRobotics Institute, Scuola Superiore Sant' Anna, Pisa, Italy.; Mulroy E; Unit of Functional Neurosurgery, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Cif L; Department of Neurosurgery, Gui de Chauliac Hospital, University Hospital Montpellier, Montpellier, France.; Service of Neurology, Department of Clinical Neurosciences, Lausanne University Hospital (CHUV) and University of Lausanne (UNIL), Lausanne, Switzerland.; Moro E; Grenoble Alpes University, Division of Neurology, CHU of Grenoble, Grenoble Institute of Neurosciences, Grenoble, France.; Zeuner KE; Department of Neurology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.; Zittel S; Department of Neurology, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Petry-Schmelzer JN; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; Gruber D; Movement Disorders Hospital, Beelitz-Heilstätten, Germany.; Centen L; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Albanese A; Department of Neurology, IRCCS Fondazione Mondino, Pavia, Italy.; Ostrozovicova M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.; Laboratory of Clinical Neurosciences, University Science Park MEDIPARK, P. J. Safarik University, Kosice, Slovak Republic.; Han V; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.; Magocova V; Department of Neurosurgery, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurosurgery, University Hospital of L. Pasteur, Kosice, Slovak Republic.; Knorovsky K; Department of Neurosurgery, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurosurgery, University Hospital of L. Pasteur, Kosice, Slovak Republic.; Kollova A; Department of Neurosurgery, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurosurgery, University Hospital of L. Pasteur, Kosice, Slovak Republic.; Garavaglia B; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Golfrè-Andreasi N; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Reale C; Unit of Medical Genetics and Neurogenetics, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Mazzoni A; The BioRobotics Institute, Scuola Superiore Sant' Anna, Pisa, Italy.; Zorzi G; Department of Child Neurology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Eleopra R; Parkinson and Movement Disorders Unit, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy.; Levi V; Neurosurgery Department, Functional Neurosurgery Unit, Fondazione IRCCS, Istituto Neurologico Carlo Besta, Milan, Italy.; Foltynie T; Unit of Functional Neurosurgery, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Limousin P; Unit of Functional Neurosurgery, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Akram H; Unit of Functional Neurosurgery, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Zrinzo L; Unit of Functional Neurosurgery, Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, London, UK.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Murphy D; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, University College London, London, UK.; Kurian MA; Developmental Neurosciences, Zayed Centre for Research into Rare Disease in Children, UCL Great Ormond Institute of Child Health, London, UK.; Department of Neurology, Great Ormond Street Hospital for Children, London, UK.; Baiata C; Division of Neurology, CHU of Grenoble, Grenoble, France.; Paschen S; Department of Neurology, Universitätsklinikum Schleswig-Holstein, Kiel, Germany.; Lohmann K; Institute of Neurogenetics, University of Luebeck, Luebeck, Germany.; Volkmann J; Department of Neurology, University of Würzburg, Würzburg, Germany.; Hamel W; Department of Neurosurgery, University Medical Center Hamburg-Eppendorf, Hamburg, Germany.; Barbe MT; Department of Neurology, Faculty of Medicine and University Hospital Cologne, University of Cologne, Cologne, Germany.; van Egmond ME; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Tijssen M; Department of Neurology, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands.; Expertise Center Movement Disorders Groningen, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Ambro L; Center for Interdisciplinary Biosciences, Technology and Innovation Park, P.J. Safarik University, Kosice, Slovak Republic.; Jurkova V; Department of Health Psychology and Research Methodology, Faculty of Medicine, P.J. Safarik University, Kosice, Slovak Republic.; Jech R; Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Praha, Prague, Czech Republic.; Havrankova P; Department of Neurology, Charles University in Prague, 1st Faculty of Medicine and General University Hospital in Prague, Praha, Prague, Czech Republic.; Winkelmann J; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Munich Cluster for Systems Neurology, SyNergy, Munich, Germany.; Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, Munich, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Institute for Advanced Study, Technical University of Munich, Garching, Germany.; Skorvanek M; Department of Neurology, P.J. Safarik University, Kosice, Slovak Republic.; Department of Neurology, University Hospital of L. Pasteur, Kosice, Slovak Republic.

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

Yaldiz, Burcu; Kucuk, Erdi; Hampstead, Juliet; Hofste, Tom; Pfundt, Rolph; Corominas Galbany, Jordi; Rinne, Tuula; Yntema, Helger G.; Hoischen, Alexander; Nelen, Marcel; Gilissen, Christian; Riess, Olaf; Haack, Tobias B.; Graessner, Holm; Zurek, Birte; Ellwanger, Kornelia; Ossowski, Stephan; Demidov, German; Sturm, Marc; Schulze-Hentrich, Julia M.; Schüle, Rebecca; Xu, Jishu; Kessler, Christoph; Wayand, Melanie; Synofzik, Matthis; Wilke, Carlo; Traschütz, Andreas; Schöls, Ludger; Hengel, Holger; Lerche, Holger; Kegele, Josua; Heutink, Peter; Brunner, Han; Scheffer, Hans; Hoogerbrugge, Nicoline; Hoen, Peter A. C.'t; Vissers, Lisenka E. L. M.; Steyaert, Wouter; Sablauskas, Karolis; de Voer, Richarda M.; Kamsteeg, Erik-Jan; van de Warrenburg, Bart; van Os, Nienke; te Paske, Iris; Janssen, Erik; de Boer, Elke; Steehouwer, Marloes; Kleefstra, Tjitske; Brookes, Anthony J.; Veal, Colin; Gibson, Spencer; Maddi, Vatsalya; Mehtarizadeh, Mehdi; Riaz, Umar; Warren, Greg; Dizjikan, Farid Yavari; Shorter, Thomas; Töpf, Ana; Straub, Volker; Bettolo, Chiara Marini; Manera, Jordi Diaz; Hambleton, Sophie; Engelhardt, Karin; Clayton-Smith, Jill; Banka, Siddharth; Alexander, Elizabeth; Jackson, Adam; Faivre, Laurence; Thauvin, Christel; Vitobello, Antonio; Denommé-Pichon, Anne-Sophie; Duffourd, Yannis; Bruel, Ange-Line; Peyron, Christine; Pélissier, Aurore; Beltran, Sergi; Gut, Ivo Glynne; Laurie, Steven; Piscia, Davide; Matalonga, Leslie; Papakonstantinou, Anastasios; Bullich, Gemma; Corvo, Alberto; Fernandez-Callejo, Marcos; Hernández, Carles; Picó, Daniel; Paramonov, Ida; Lochmüller, Hanns; Gumus, Gulcin; Bros-Facer, Virginie; Rath, Ana; Hanauer, Marc; Lagorce, David; Hongnat, Oscar; Chahdil, Maroua; Lebreton, Emeline; Stevanin, Giovanni; Durr, Alexandra; Davoine, Claire-Sophie; Guillot-Noel, Léna; Heinzmann, Anna; Coarelli, Giulia; Bonne, Gisèle; Evangelista, Teresinha; Allamand, Valérie; Nelson, Isabelle; Yaou, Rabah Ben; Metay, Corinne; Eymard, Bruno; Cohen, Enzo; Atalaia, Antonio; Stojkovic, Tanya; Macek, Milan; Turnovec, Marek; Thomasová, Dana; Kremliková, Radka Pourová; Franková, Vera; Havlovicová, Markéta; LiÅ¡ková, Petra; Dolezalová, Pavla; Parkinson, Helen; Keane, Thomas; Freeberg, Mallory; Thomas, Coline; Spalding, Dylan; Robinson, Peter; Danis, Daniel; Robert, Glenn; Costa, Alessia; Patch, Christine; Hanna, Mike; Houlden, Henry; Reilly, Mary; Vandrovcova, Jana; Efthymiou, Stephanie; Morsy, Heba; Cali, Elisa; Magrinelli, Francesca; Sisodiya, Sanjay M.; Rohrer, Jonathan; Muntoni, Francesco; Zaharieva, Irina; Sarkozy, Anna; Timmerman, Vincent; Baets, Jonathan; de Vries, Geert; De Winter, Jonathan; Beijer, Danique; de Jonghe, Peter; Van de Vondel, Liedewei; De Ridder, Willem; Weckhuysen, Sarah; Nigro, Vincenzo; Mutarelli, Margherita; Morleo, Manuela; Pinelli, Michele; Varavallo, Alessandra; Banfi, Sandro; Torella, Annalaura; Musacchia, Francesco; Piluso, Giulio; Ferlini, Alessandra; Selvatici, Rita; Gualandi, Francesca; Bigoni, Stefania; Rossi, Rachele; Neri, Marcella; Aretz, Stefan; Spier, Isabel; Sommer, Anna Katharina; Peters, Sophia; Oliveira, Carla; Pelaez, Jose Garcia; Matos, Ana Rita; José, Celina São; Ferreira, Marta; Gullo, Irene; Fernandes, Susana; Garrido, Luzia; Ferreira, Pedro; Carneiro, Fátima; Swertz, Morris A.; Johansson, Lennart; van der Velde, Joeri K.; van der Vries, Gerben; Neerincx, Pieter B.; Ruvolo, David; Abbott, Kristin M.; Frederikse, Wilhemina SKerstjens; Zonneveld-Huijssoon, Eveline; Roelofs-Prins, Dieuwke; van Gijn, Marielle; Köhler, Sebastian; Metcalfe, Alison; Verloes, Alain; Drunat, Séverine; Heron, Delphine; Mignot, Cyril; Keren, Boris; de Sainte Agathe, Jean-Madeleine; Rooryck, Caroline; Lacombe, Didier; Trimouille, Aurelien; De la Paz, Manuel Posada; Sánchez, Eva Bermejo; Martín, Estrella López; Delgado, Beatriz Martínez; de la Rosa, F. Javier Alonso García; Ciolfi, Andrea; Dallapiccola, Bruno; Pizzi, Simone; Radio, Francesca Clementina; Tartaglia, Marco; Renieri, Alessandra; Furini, Simone; Fallerini, Chiara; Benetti, Elisa; Balicza, Peter; Molnar, Maria Judit; Maver, Ales; Peterlin, Borut; Münchau, Alexander; Lohmann, Katja; Herzog, Rebecca; Pauly, Martje; Macaya, Alfons; Cazurro-Gutiérrez, Ana; Pérez-Dueéas, Belén; Munell, Francina; Jarava, Clara Franco; Masó, Laura Batlle; Marcé-Grau, Anna; Colobran, Roger; Osorio, Andrés Nascimento; de Benito, Daniel Natera; Thompson, Rachel; Polavarapu, Kiran; Grimbacher, Bodo; Beeson, David; Cossins, Judith; Hackman, Peter; Johari, Mridul; Savarese, Marco; Udd, Bjarne; Horvath, Rita; Chinnery, Patrick F.; Ratnaike, Thiloka; Gao, Fei; Schon, Katherine; Capella, Gabriel; Valle, Laura; Holinski-Feder, Elke; Laner, Andreas; Steinke-Lange, Verena; Schröck, Evelin; Rump, Andreas; BaÅak, AyÅe Nazli; Hemelsoet, Dimitri; Dermaut, Bart; Schuermans, Nika; Poppe, Bruce; Verdin, Hannah; Mei, Davide; Vetro, Annalisa; Balestrini, Simona; Guerrini, Renzo; Claeys, Kristl; Santen, Gijs W. E.; Bijlsma, Emilia K.; Hoffer, Mariette J. V.; Ruivenkamp, Claudia A. L.; Boztug, Kaan; Haimel, Matthias; Maystadt, Isabelle; Cordts, Isabelle; Deschauer, Marcus; Zaganas, Ioannis; Kokosali, Evgenia; Lambros, Mathioudakis; Evangeliou, Athanasios; Spilioti, Martha; Kapaki, Elisabeth; Bourbouli, Mara; Striano, Pasquale; Zara, Federico; Riva, Antonella; Iacomino, Michele; Uva, Paolo; Scala, Marcello; Scudieri, Paolo; Cilio, Maria-Roberta; Carpancea, Evelina; Depondt, Chantal; Lederer, Damien; Sznajer, Yves; Duerinckx, Sarah; Mary, Sandrine; Depienne, Christel; Roos, Andreas; May, Patrick

Human Genomics. May 3, 2023, Vol. 17 Issue 1

Mencacci NE; Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, 60611, Illinois, USA.; These authors contributed equally.; Minakaki G; Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, 60611, Illinois, USA.; These authors contributed equally.; Maroofian R; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; De Pace R; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.; Paimboeuf A; Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Shannon P; Department of Pathology and Laboratory Medicine, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Chitayat D; The Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Division of Clinical and Metabolic Genetics, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; Peng WJ; Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, 60611, Illinois, USA.; Chatterjee D; Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, 60611, Illinois, USA.; Eldessouky SH; Prenatal Diagnosis & Fetal Medicine Department, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Baptista J; King's College Hospital, Synnovis, Denmark Hill, London, SE5 9RS and Department of Medical & Molecular Genetics, Faculty of Life Sciences and Medicine, King's College London, UK.; Marton T; Cellular Pathology Department, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B15 2TG, United Kingdom.; Department of Obstetrics and Gynecology, Semmelweis University, Baross u. 27, Budapest, 1088, Hungary.; Vogt J; West Midlands Regional Genetics Service, Birmingham Women's and Children's NHS Foundation Trust, Birmingham, B15 2TG, United Kingdom.; Ortigoza-Escobar JD; Movement Disorders Unit, Pediatric Neurology Department, Institut de Recerca, Sant Joan de Déu Barcelona Children's Hospital, Barcelona, Spain.; European Reference Network for Rare Neurological Diseases (ERN-RND), Barcelona, Spain.; U-703 Centre for Biomedical Research on Rare Diseases (CIBER-ER), Instituto de Salud Carlos III, Barcelona, Spain.; Martorell L; Department of Genetic, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain.; Gómez-Chiari M; Diagnostic Imaging Department, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain.; Institut de Recerca Sant Joan de Déu, Sant Joan de Déu Barcelona Children's Hospital, Esplugues de Llobregat, Spain.; Wentzensen IM; GeneDx, LLC, Gaithersburg MD 20877 USA.; Kamsteeg EJ; Department of Human Genetics, Radboud University Medical Center, Nijmegen, The Netherlands.; Zaki MS; Department of Clinical Genetics, Human Genetics and Genome Research Institute, National Research Centre, Cairo, Egypt.; Scardamaglia A; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Zifarelli G; CENTOGENE, Am Strande 7, 18055 Rostock, Germany.; Al-Hassnan ZN; Department of Medical Genomics, Genomic Medicine Centre of Excellence, King Faisal Specialist Hospital & Research Center, Riyadh, Saudi Arabia.; Miller E; Department of Diagnostic and Interventional Radiology, Hospital for Sick Children, University of Toronto, Toronto, Ontario, Canada.; Shinar S; Ontario Fetal Center, Department of Obstetrics and Gynecology, Mount Sinai Hospital, University of Toronto, Toronto, Ontario, Canada.; Matsa LS; Genomic Precision Diagnostic Dept., Igenomix FZ LLC, Dubai, UAE.; Appikonda SHC; Genomic Precision Diagnostic Dept., Igenomix FZ LLC, Dubai, UAE.; Schwake M; Biochemistry III, Department of Chemistry, University of Bielefeld, Bielefeld, Germany.; Severino M; Neuroradiology Unit, IRCCS Institute Giannina Gaslini, Genova, 16147, Italy.; Houlden H; Department of Neuromuscular Disorders, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Patten SA; Institut National de la Recherche Scientifique (INRS), Centre Armand Frappier Santé Biotechnologie, Laval, QC H7V 1B7, Canada.; Département de Neurosciences, Université de Montréal, Montréal, QC H3C 3J7, Canada.; These authors contributed equally.; Bonifacino JS; Division of Neuroscience and Cellular Structure, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD, USA.; These authors contributed equally.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, WC1N 3BG, UK.; These authors contributed equally.; Krainc D; Davee Department of Neurology, Northwestern University Feinberg School of Medicine, Chicago, 60611, Illinois, USA.

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

Menon PJ; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France. poornimajmenon@gmail.com.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France. poornimajmenon@gmail.com.; School of Postgraduate Studies, Royal College of Surgeons in Ireland, Dublin, Ireland. poornimajmenon@gmail.com.; Sambin S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Criniere-Boizet B; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Courtin T; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Genetics, Hôpital Pitié-Salpêtrière, Paris, France.; Tesson C; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Casse F; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Ferrien M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Mariani LL; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Carvalho S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Lejeune FX; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Rebbah S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Martet G; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Houot M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Centre of Excellence of Neurodegenerative Disease (CoEN), AP-HP, Pitié-Salpêtrière Hospital, Paris, France.; Institute of Memory and Alzheimer's Disease (IM2A), Department of Neurology, AP-HP, Pitié-Salpêtrière Hospital, Paris, France.; Lanore A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Mangone G; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Department of Neurology, Movement Disorder Division, Rush University Medical Center, 1725 W. Harrison Street, Chicago, IL, USA.; Roze E; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Vidailhet M; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.; Aasly J; Department of Neurology, Norwegian University of Science and Technology, Trondheim, Norway.; Gan Or Z; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Yu E; The Neuro (Montreal Neurological Institute-Hospital), McGill University, Montreal, QC, Canada.; Department of Neurology and Neurosurgery, McGill University, Montreal, QC, Canada.; Department of Human Genetics, McGill University, Montreal, QC, Canada.; Dauvilliers Y; Department of Neurology, Gui-de-Chauliac Hospital, CHU Montpellier, University of Montpellier, Institute for Neurosciences of Montpellier (INM), INSERM, Montpellier, France.; Zimprich A; Department of Neurology, University Hospital Vienna, Vienna, Austria.; Tomantschger V; Gailtal-Klinik Hermagor, Hermagor, Austria.; Pirker W; Department of Neurology, Ottakring Clinic, Vienna, Austria.; Álvarez I; Department of Neurology, Hospital Universitari Mutua de Terrassa, and Fundació per a la Recerca Biomèdica i Social Mútua de Terrassa, Terrassa, Barcelona, Spain.; Pastor P; Unit of Neurodegenerative diseases, Department of Neurology, University Hospital Germans Trias i Pujol and The Germans Trias i Pujol Research Institute (IGTP) Badalona, Barcelona, Spain.; Di Fonzo A; Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Milan, Italy.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Houlden H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Real R; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; UCL Movement Disorders Centre, University College London, London, UK.; Aligning Science Across Parkinson's (ASAP) Collaborative Research Network, Chevy Chase, MD, 20815, USA.; Quattrone A; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Institute of Neurology, Department of Medical and Surgical Sciences, Magna Graecia University of Catanzaro, Catanzaro, Italy.; Limousin P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Korlipara P; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Foltynie T; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Grosset D; Institute of Neurological Sciences, University of Glasgow, Glasgow, UK.; Williams N; Department of Psychological Medicine and Neurology, Cardiff University, Cardiff, UK.; Narendra D; Inherited Disorders Unit, Neurogenetics Branch, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Lin HP; Inherited Disorders Unit, Neurogenetics Branch, Division of Intramural Research, National Institute of Neurological Disorders and Stroke, National Institutes of Health, Bethesda, MD, USA.; Jovanovic C; University Clinical Center of Serbia, Neurology Clinic, Belgrade, Serbia.; Svetel M; University Clinical Center of Serbia, Neurology Clinic, Belgrade, Serbia.; Lynch T; The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin Ireland and University College Dublin, Dublin, Ireland.; Gallagher A; The Dublin Neurological Institute at the Mater Misericordiae University Hospital, Dublin Ireland and University College Dublin, Dublin, Ireland.; Vandenberghe W; Department of Neurology, University Hospitals Leuven; Department of Neurosciences, KU Leuven; Leuven Brain Institute, Leuven, Belgium.; Gasser T; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.; Brockmann K; Department of Neurodegenerative Diseases, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; DZNE, German Center for Neurodegenerative Diseases, Tübingen, Germany.; Morris HR; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London, UK.; Borsche M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Klein C; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Corti O; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Brice A; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Genetics, Hôpital Pitié-Salpêtrière, Paris, France.; Lesage S; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Corvol JC; Sorbonne Université, Institut du Cerveau - Paris Brain Institute - ICM, Inserm, CNRS, Paris, France.; Assistance Publique Hôpitaux de Paris, Department of Neurology, CIC Neurosciences, Hôpital Pitié-Salpêtrière, Paris, France.

Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 101675390 Publication Model: Electronic Cited Medium: Print ISSN: 2373-8057 (Print) Linking ISSN: 23738057 NLM ISO Abbreviation: NPJ Parkinsons Dis Subsets: PubMed not MEDLINE

Jesuthasan A; Department of Neurology, Addenbrooke's Hospital, Cambridge CB2 0QQ, UK.; Magrinelli F; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Batla A; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.; Bhatia KP; Department of Clinical and Movement Neurosciences, UCL Queen Square Institute of Neurology, University College London, London WC1N 3BG, UK.

Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE

Denomme-Pichon A. -S.; Bruel A. -L.; Duffourd Y.; Safraou H.; Thauvin-Robinet C.; Tran Mau-Them F.; Philippe C.; Vitobello A.; Jean-Marcais N.; Moutton S.; Thevenon J.; Faivre L.; Matalonga L.; de Boer E.; Gilissen C.; Hoischen A.; Kleefstra T.; Pfundt R.; de Vries B. B. A.; Willemsen M. H.; Vissers L. E. L. M.; Jackson A.; Banka S.; Clayton-Smith J.; Benetti E.; Fallerini C.; Renieri A.; Ciolfi A.; Dallapiccola B.; Pizzi S.; Radio F. C.; Tartaglia M.; Ellwanger K.; Graessner H.; Haack T. B.; Zurek B.; Havlovicova M.; Macek M.; Ryba L.; Schwarz M.; Votypka P.; Martin E. L.; Posada M.; Mencarelli M. A.; Rooryck C.; Trimouille A.; Verloes A.; Abbott K. M.; Kerstjens M.; Maystadt I.; Morleo M.; Nigro V.; Pinelli M.; Riess O.; Agathe J. -M. D. S.; Santen G. W. E.; Thauvin C.; Torella A.; Vissers L.; Zguro K.; Boer E. D.; Cohen E.; Danis D.; Gao F.; Horvath R.; Johari M.; Johanson L.; Li S.; Morsy H.; Nelson I.; Paramonov I.; te Paske I. B. A. W.; Robinson P.; Savarese M.; Steyaert W.; Topf A.; van der Velde J. K.; Vandrovcova J.; Ossowski S.; Demidov G.; Sturm M.; Schulze-Hentrich J. M.; Schule R.; Xu J.; Kessler C.; Wayand M.; Synofzik M.; Wilke C.; Traschutz A.; Schols L.; Hengel H.; Lerche H.; Kegele J.; Heutink P.; Brunner H.; Scheffer H.; Hoogerbrugge N.; 't Hoen P. A. C.; Sablauskas K.; de Voer R. M.; Kamsteeg E. -J.; van de Warrenburg B.; van Os N.; Paske I. T.; Janssen E.; Steehouwer M.; Yaldiz B.; Brookes A. J.; Veal C.; Gibson S.; Maddi V.; Mehtarizadeh M.; Riaz U.; Warren G.; Dizjikan F. Y.; Shorter T.; Straub V.; Bettolo C. M.; Manera J. D.; Hambleton S.; Engelhardt K.; Alexander E.; Peyron C.; Pelissier A.; Beltran S.; Gut I. G.; Laurie S.; Piscia D.; Papakonstantinou A.; Bullich G.; Corvo A.; Fernandez-Callejo M.; Hernandez C.; Pico D.; Lochmuller H.; Gumus G.; Bros-Facer V.; Rath A.; Hanauer M.; Lagorce D.; Hongnat O.; Chahdil M.; Lebreton E.; Stevanin G.; Durr A.; Davoine C. -S.; Guillot-Noel L.; Heinzmann A.; Coarelli G.; Bonne G.; Evangelista T.; Allamand V.; Ben Yaou R.; Metay C.; Eymard B.; Atalaia A.; Stojkovic T.; Turnovec M.; Thomasova D.; Kremlikova R. P.; Frankova V.; Liskova P.; Dolezalova P.; Parkinson H.; Keane T.; Freeberg M.; Thomas C.; Spalding D.; Robert G.; Costa A.; Patch C.; Hanna M.; Houlden H.; Reilly M.; Efthymiou S.; Cali E.; Magrinelli F.; Sisodiya S. M.; Rohrer J.; Muntoni F.; Zaharieva I.; Sarkozy A.; Timmerman V.; Baets J.; de Vries G.; De Winter J.; Beijer D.; de Jonghe P.; Van de Vondel L.; De Ridder W.; Weckhuysen S.; Mutarelli M.; Varavallo A.; Banfi S.; Musacchia F.; Piluso G.; Ferlini A.; Selvatici R.; Gualandi F.; Bigoni S.; Rossi R.; Neri M.; Aretz S.; Spier I.; Sommer A. K.; Peters S.; Oliveira C.; Pelaez J. G.; Matos A. R.; Jose C. S.; Ferreira M.; Gullo I.; Fernandes S.; Garrido L.; Ferreira P.; Carneiro F.; Swertz M. A.; Johansson L.; van der Vries G.; Neerincx P. B.; Ruvolo D.; Kerstjens Frederikse W. S.; Zonneveld-Huijssoon E.; Roelofs-Prins D.; van Gijn M.; Kohler S.; Metcalfe A.; Drunat S.; Heron D.; Mignot C.; Keren B.; Lacombe D.; Capella G.; Valle L.; Holinski-Feder E.; Laner A.; Steinke-Lange V.; Cilio M. -R.; Carpancea E.; Depondt C.; Lederer D.; Sznajer Y.; Duerinckx S.; Mary S.; Macaya A.; Cazurro-Gutierrez A.; Perez-Duenas B.; Munell F.; Jarava C. F.; Maso L. B.; Marce-Grau A.; Colobran R.; Hackman P.; Udd B.; Hemelsoet D.; Dermaut B.; Schuermans N.; Poppe B.; Verdin H.; Osorio A. N.; Depienne C.; Roos A.; Cordts I.; Deschauer M.; Striano P.; Zara F.; Riva A.; Iacomino M.; Uva P.; Scala M.; Scudieri P.; Basak A. N.; Claeys K.; Boztug K.; Haimel M.; W. E G.; Ruivenkamp C. A. L.; Natera de Benito D.; Thompson R.; Polavarapu K.; Grimbacher B.; Zaganas I.; Kokosali E.; Lambros M.; Evangeliou A.; Spilioti M.; Kapaki E.; Bourbouli M.; Balicza P.; Molnar M. J.; De la Paz M. P.; Sanchez E. B.; Delgado B. M.; Alonso Garcia de la Rosa F. J.; Schrock E.; Rump A.; Mei D.; Vetro A.; Balestrini S.; Guerrini R.; Chinnery P. F.; Ratnaike T.; Schon K.; Maver A.; Peterlin B.; Munchau A.; Lohmann K.; Herzog R.; Pauly M.; May P.; Beeson D.; Cossins J.; Furini S.; Afenjar A.; Goldenberg A.; Masurel A.; Phan A.; Dieux-Coeslier A.; Fargeot A.; Guerrot A. -M.; Toutain A.; Molin A.; Sorlin A.; Putoux A.; Jouret B.; Laudier B.; Demeer B.; Doray B.; Bonniaud B.; Isidor B.; Gilbert-Dussardier B.; Leheup B.; Reversade B.; Paul C.; Vincent-Delorme C.; Neiva C.; Poirsier C.; Quelin C.; Chiaverini C.; Coubes C.; Francannet C.; Colson C.; Desplantes C.; Wells C.; Goizet C.; Sanlaville D.; Amram D.; Lehalle D.; Genevieve D.; Gaillard D.; Zivi E.; Sarrazin E.; Steichen E.; Schaefer E.; Lacaze E.; Jacquemin E.; Bongers E.; Kilic E.; Colin E.; Giuliano F.; Prieur F.; Laffargue F.; Morice-Picard F.; Petit F.; Cartault F.; Feillet F.; Baujat G.; Morin G.; Diene G.; Journel H.; Perthus I.; Lespinasse J.; Alessandri J. -L.; Amiel J.; Martinovic J.; Delanne J.; Albuisson J.; Lambert L.; Perrin L.; Ousager L. B.; Van Maldergem L.; Pinson L.; Ruaud L.; Samimi M.; Bournez M.; Bonnet-Dupeyron M. N.; Vincent M.; Jacquemont M. -L.; Cordier-Alex M. -P.; Gerard-Blanluet M.; Willems M.; Spodenkiewicz M.; Doco-Fenzy M.; Rossi M.; Renaud M.; Fradin M.; Mathieu M.; Holder-Espinasse M. H.; Houcinat N.; Hanna N.; Leperrier N.; Chassaing N.; Philip N.; Boute O.; Van Kien P. K.; Parent P.; Bitoun P.; Sarda P.; Vabres P.; Jouk P. -S.; Touraine R.; El Chehadeh S.; Whalen S.; Marlin S.; Passemard S.; Grotto S.; Bellanger S. A.; Blesson S.; Nambot S.; Naudion S.; Lyonnet S.; Odent S.; Attie-Bitach T.; Busa T.; Drouin-Garraud V.; Layet V.; Bizaoui V.; Cusin V.; Capri Y.; Alembik Y.

Repisalud
Instituto de Salud Carlos III (ISCIII)
Genetics in Medicine, 25, 4
Solve-RD DITF-ITHACA, Solve-RD SNV-indel working group, Solve-RD Consortia, Orphanomix Group, Denommé-Pichon, A-S, Matalonga, L, de Boer, E, Jackson, A, Benetti, E, Banka, S, Bruel, A-L, Ciolfi, A, Clayton-Smith, J, Dallapiccola, B, Duffourd, Y, Ellwanger, K, Fallerini, C, Gilissen, C, Graessner, H, Haack, T B, Havlovicova, M, Hoischen, A, Jean-Marçais, N, Kleefstra, T, López-Martín, E, Macek, M, Mencarelli, M A, Moutton, S, Pfundt, R, Pizzi, S, Posada, M, Radio, F C, Renieri, A, Rooryck, C, Ryba, L, Safraou, H, Tartaglia, M, Thauvin-Robinet, C, Thevenon, J, Mau-Them, F T, Trimouille, A, Votypka, P, de Vries, B B A, Willemsen, M H, Zurek, B, Verloes, A, Philippe, C, Vitobello, A, Vissers, L E L M & Faivre, L 2023, 'A Solve-RD ClinVar-based reanalysis of 1,522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing', Genetics in medicine : official journal of the American College of Medical Genetics, vol. 25, no. 4, 100018. https://doi.org/10.1016/j.gim.2023.100018
GENETICS IN MEDICINE
Genetics in Medicine

Magrinelli, F; Balint, B; Bhatia, KP