부산대학교 도서관

Yépez, V.A.; Demidov, G.; Ellwanger, K.; Laurie, S.; Luknárová, R.; Joseph Maran, M.I.; Hentrich, T.; Sagath, L.; van der Sanden, B.; Astuti, G.D.N; Neveling, K.; Batlle-Masó, L.; Beijer, D.; Brechtmann, F.; Caballero-Oteyza, A.; Dabad, M.; Denommé-Pichon, A.S.; Doornbos, C.; Eddafir, Z.; Estévez-Arias, B.; Kilicarslan, O.A.; Kolen, I.H.M.; Kraß, L.; Lohmann, K.; Londhe, S.; López-Martín, E.; Maassen, K.; Macken, W.; Martínez-Delgado, B.; Mei, D.; Mertes, C.; Minardi, R.; Morsy, H.; Mueller, J.S.; Natera-de Benito, D.; Nelson, I.; Oud, M.M.; Paramonov, I.; Picó, D.; Piscia, D.; Polavarapu, K.; Raineri, E.; Savarese, M.; Smal, N.; Steehouwer, M.; Steyaert, W.; Swertz, M.A.; Thomsen, M.; Töpf, A.; Van de Vondel, L.; van der Vries, G.; Vitobello, A.; Wilke, C.; Zurek, B.; 't Hoen, P.A.C.; Matalonga, L.; Vissers, L.E.L.M.; Gilissen, C.F.H.A.; Schulze-Hentrich, J.; Beltran, S.; Esteve-Codina, A.; Hoischen, A.; Gagneur, J.; Graessner, H.

Demidov G.; Laurie S.; Torella A.; Piluso G.; Scala M.; Morleo M.; Nigro V.; Graessner H.; Banka S.; Van de Vondel L.; Bonne G.; Rabah B. Y.; Marce-Grau A.; Munell F.; Trimouille A.; Nascimento A.; Natera-de Benito D.; Chinnery P. F.; Renieri A.; Fallerini C.; Didier L.; Topf A.; Haack T. B.; Sommer A. K.; Pauly M. G.; Tartaglia M.; Dallapiccola B.; Johari M.; Savarese M.; Denomme-Pichon A. -S.; van de Warrenburg B. P. C.; van Os N. J. H.; Pinelli M.; Horvath R.; Havlovicova M.; de Sainte Agathe J. -M.; Stevanin G.; Jackson A.; Perez-Duenas B.; Macaya A.; Lohmann K.; Ossowski S.

Puig-Ram C; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Facultat de Medicina i Ciències de la Salut, Universitat de Barcelona (UB), Barcelona, Spain.; Segovia S; John Walton Muscular Dystrophy Research Centre, Newcastle University Faculty of Medical Sciences, and Newcastle upon Tyne Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Neuromuscular Disorders Unit, Neurology Department, Hospital de la Santa Creu I Sant Pau, Universidad Autónoma de Barcelona, Barcelona, Spain.; Garcia-Uzquiano R; Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Ñungo Garzón NC; Neuromuscular Unit Unit and Neuromuscular Research Group, Department of Neurology, Hospital Universitario y Politécnico la Fe, IIS La Fe, Valencia, Spain.; Aragon-Gawinska K; Neuromuscular Unit Unit and Neuromuscular Research Group, Department of Neurology, Hospital Universitario y Politécnico la Fe, IIS La Fe, Valencia, Spain.; García Romero M; Neuromuscular Unit, Department of Pediatric Neurology, Hospital Universitario La Paz, Madrid, Spain.; Expósito-Escudero JM; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Group of Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Carrera-García L; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Group of Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; López-Lobato M; Neuromuscular Research Unit, Department of Pediatric Neurology, Hospital Universitario Virgen del Rocío, Universidad de Sevilla, Seville, Spain.; Paradas C; Neuromuscular Research Unit, Department of Neurology, Hospital Universitario Virgen del Rocío, Universidad deSevilla, Seville, Spain.; González Mera L; Neuromuscular Research Unit, Department of Neurology, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Spain.; Álvarez Molinero M; Pediatric Neuromuscular Unit, Euro-NMD, Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Gómez Andrés D; Pediatric Neuromuscular Unit, Euro-NMD, Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Toro E; Pediatric Rehabilitation Unit, Physical Medicine and Rehabilitation Department. Neurology Department, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain.; Fernández Ramos JA; Pediatric Neurology Unit, Pediatric Department, Reina Sofia University Hospital, Maimonides Biomedical Research Institute of Cordoba (IMIBIC), Córdoba, Spain.; Grimalt MA; Pediatric Neurology Unit, Pediatric Department, Hospital Universitario Son Espases, Palma de Mallorca, Spain.; Toledo Bravo de Laguna L; Pediatric Neurology Unit, Department of Pediatric Neurology, Hospital Materno-Infantil de Canarias, Las Palmas de Gran Canaria, Spain.; González Barrios D; Pediatric Neurology Unit, Department of Pediatric Neurology, Hospital Universitario Nuestra Señora de Candelaria, Tenerife, Spain.; Tizzano EF; Neuromuscular disorders Unit, Neurology Department, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain.; Cattinari MG; Fundación de Atrofia Muscular Espinal, FundAME, Madrid, Spain.; Medina J; Physical Medicine and Rehabilitation Department, Hospital Sant Joan de Deu, Barcelona, Spain.; Calvo Medina R; Neuropediatrics Unit, Pediatric Department, Hospital Clínico Universitario Carlos Haya, Málaga, Spain.; Munell F; Pediatric Neuromuscular Unit, Euro-NMD, Pediatric Neurology, Vall d'Hebron Institut de Recerca (VHIR), Hospital Universitari Vall d'Hebron, Vall d'Hebron Barcelona Hospital Campus, Barcelona, Spain.; Sotoca J; Neuromuscular disorders Unit, Neurology Department, Vall d'Hebron University Hospital and Vall d'Hebron Institute of Research (VHIR), Barcelona, Spain.; Martínez-Salcedo E; Pediatric Neurology Unit, Pediatric Department, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.; Moreno Escribano A; Neurology Department, Hospital Universitario Virgen de la Arrixaca, Murcia, Spain.; Povedano Panadés M; Neuromuscular Research Unit, Department of Neurology, Hospital Universitari de Bellvitge, Hospitalet de Llobregat, Spain.; Fernández-García MA; Neuromuscular Unit, Department of Pediatric Neurology, Hospital Universitario La Paz, Madrid, Spain.; Pitarch-Castellano I; Neuromuscular Unit Unit and Neuromuscular Research Group, Department of Neurology, Hospital Universitario y Politécnico la Fe, IIS La Fe, Valencia, Spain.; Vázquez-Costa JF; Neuromuscular Unit Unit and Neuromuscular Research Group, Department of Neurology, Hospital Universitario y Politécnico la Fe, IIS La Fe, Valencia, Spain.; Medicine Department, University of Valencia, Valencia, Spain.; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Natera-de Benito D; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Group of Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Nascimento A; Neuromuscular Unit, Department of Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Group of Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for the Biomedical Research on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.

Publisher: SAGE Publications Country of Publication: United States NLM ID: 101649948 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 2214-3602 (Electronic) Linking ISSN: 22143599 NLM ISO Abbreviation: J Neuromuscul Dis Subsets: MEDLINE

Armijo J; Neuromuscular Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Nascimento A; Neuromuscular Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Expósito J; Neuromuscular Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Carrera L; Neuromuscular Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Natera-de Benito D; Neuromuscular Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Ortez C; Neuromuscular Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu and Institut de Recerca Sant Joan de Déu, Barcelona, Spain.

Publisher: Gaetano Conte Academy Country of Publication: Italy NLM ID: 9811169 Publication Model: Print Cited Medium: Internet ISSN: 2532-1900 (Electronic) Linking ISSN: 11282460 NLM ISO Abbreviation: Acta Myol Subsets: MEDLINE

Nascimento A; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España. E-mail: andres.nascimento@sjd.es.; Ortez C; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.; Expósito J; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.; Carrera L; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.; Cerezo S; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.; Lotz S; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.; Zschaeck I; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.; Lujan A; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.; Gatnau C; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.; Estévez B; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.; Tizzano E; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.; Natera De Benito D; Unidad de Patología Neuromusuclar, Servicio de Neurología, Hospital San Joan de Déu, Barcelona, España.

Publisher: Fundación Revista Medicina (Buenos Aires) Country of Publication: Argentina NLM ID: 0204271 Publication Model: Print Cited Medium: Internet ISSN: 1669-9106 (Electronic) Linking ISSN: 00257680 NLM ISO Abbreviation: Medicina (B Aires) Subsets: MEDLINE

Nematollahi S; École de physiothérapie et d'ergothérapie, Université de McGill, Montréal, QC, Canada.; Département de recherche clinique, Hôpitaux Shriners pour enfants du Canada, Montréal, Canada.; Dieterich K; Inserm U1209, Institut des Biosciences Avancées, CHU Grenoble Alpes, Centre de référence de l'arthrogrypose et des maladies neuromusculaires, Université Grenoble Alpes, Grenoble, France.; Filges I; Génétique médicale, Institut de génétique médicale et de pathologie et Département de recherche clinique, Hôpital universitaire de Bâle et Université de Bâle, Bâle, Suisse.; De Vries JIP; Obstétrique et gynécologie, Amsterdam Movement Sciences, Amsterdam Centre médical universitaire, Centre médical de la Vrije Universiteit, Amsterdam, Pays-Bas.; Van Bosse H; Département de chirurgie orthopédique, Hôpital pour enfants Cardinal Glennon/SSM Santé, Université de St. Louis University, St. Louis, MO, États-Unis.; Natera-De Benito D; Unité neuromusculaire, Hôpital Sant Joan de Déu, Barcelone, Espagne.; Recherche appliquée en maladies neuromusculaires, Institut de Recerca Sant Joan de Déu, Barcelone, Espagne.; Hall JG; Département de génétique médicale et de pédiatrie, Université de la Colombie-Britannique et BC hôpital pour enfants, Vancouver, Canada.; Sawatzky B; Département d'orthopédie, Université de la Colombie-Britannique, Vancouver, Canada.; Bedard T; Génétique clinique, Système de surveillance des anomalies congénitales de l'Alberta, Calgary, Alberta, Canada.; Sanchez VC; Asociación Artrogriposis Múltiple Congénita España, Barcelone, Espagne.; Navalon-Martinez C; Asociación Artrogriposis Múltiple Congénita España, Barcelone, Espagne.; Pan T; Département d'informatique biomédicale, Université Emory, Atlanta, GA, États-Unis.; Département d'ingénierie et de la science des données, Institut de technologie de Géorgie, Atlanta, GA, États-Unis.; Hilton C; Département d'Ingénierie et d'analyse des données, Shriners Children's, Siège social, Tampa, FL, États-Unis.; Dahan-Oliel N; École de physiothérapie et d'ergothérapie, Université de McGill, Montréal, QC, Canada.; Département de recherche clinique, Hôpitaux Shriners pour enfants du Canada, Montréal, Canada.

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

Nematollahi S; Escuela de Fisioterapia y Terapia Ocupacional, Universidad McGill, Montreal, Canadá.; Departamento de Investigación Clínica, Hospitales Shriners para Niños, Montreal, Canadá.; Dieterich K; Université Grenoble Alpes, Inserm U1209, Instituto de Biociencias Avanzadas, CHU Grenoble Alpes, Centro de Referencia de Artrogriposis y Neuromuscular, Grenoble, Francia.; Filges I; Genética Médica, Instituto de Genética Médica y Patología y Departamento de Investigación Clínica, Hospital Universitario de Basilea y Universidad de Basilea, Basilea, Suiza.; De Vries JIP; Obstetricia y Ginecología, Amsterdam Movement Sciences, Amsterdam, University Medical Center, Vrije Universiteit Medical Center, Amsterdam, the Países Bajos.; Van Bosse H; Departamento de Cirugía Ortopédica, Cardinal Glennon Children's Hospital/SSM Health/St. Louis University, St. Louis, MO, EE.UU.; Natera de Benito D; Unidad Neuromuscular, Hospital Sant Joan de Déu, Barcelona, España.; Investigación Aplicada en Enfermedades Neuromusculares, Institut de Recerca Sant Joan de Déu, Barcelona, España.; Hall JG; Departamento de Genética Médica y Pediatría, Universidad de Columbia Británica y BC Children's Hospital, Vancouver, Columbia Británica, Canadá.; Sawatzky B; Departamento de Ortopedia, Universidad de British Columbia, Vancouver, British Columbia Columbia, Canadá.; Bedard T; Sistema de Vigilancia de Anomalías Congénitas de Alberta, Genética Clínica, Alberta Children's Hospital, Alberta Health Services, Calgary, Alberta, Canadá.; Sanchez VC; Asociación Artrogriposis Múltiple Congénita España, Barcelona, Spain.; Navalon-Martinez C; Asociación Artrogriposis Múltiple Congénita España, Barcelona, Spain.; Pan T; Departamento de Informática Biomédica, Universidad de Emory, Atlanta, GA, EE.UU.; Instituto de Ingeniería y Ciencia de Datos, Instituto de Tecnología de Georgia, Atlanta, GA, EE.UU.; Hilton C; Shriners Children's, Sede central, Tampa, FL, EE.UU.; Dahan-Oliel N; Escuela de Fisioterapia y Terapia Ocupacional, Universidad McGill, Montreal, Canadá.; Departamento de Investigación Clínica, Hospitales Shriners para Niños, Montreal, Canadá.

Publisher: Blackwell Country of Publication: England NLM ID: 0006761 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1469-8749 (Electronic) Linking ISSN: 00121622 NLM ISO Abbreviation: Dev Med Child Neurol Subsets: MEDLINE

Della Marina, A.; Koutsoulidou, A.; Natera de Benito, D.; Tykocinski, L.; Tomazou, M.; Georgiou, K.; Kölbel, H.; Nascimento, A.; Ortez, C.; Lochmüller, H.; Phylactou, L.; Ruck, T.; Abicht, A.; Schara-Schmidt, U.; Kale, D.; Hentschel, A.; Roos, A.

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Ramdas, S.; Ramjattan, H.; Hennehan, L.; Natera De Benito, D.; Nascimiento, A.; Della Marina, A.; Schara-Schmidt, U.; Munot, P.; Simmons, E.; Maggi, L.; Gallone, A.; Nadaj Pakleza, A.; Chanson, J.; Marini-Bettolo, C.; Moat, D.; Paz Guerrero-Molina, M.; Dominguez-González, C.; Jungbluth, H.; Sheehan, J.; Palace, J.

Neuromuscular Disorders. 43

Obesity, Fitness & Wellness Week. April 9, 2016, p1057

Natera De Benito, D.; Pugliese, A.; Polavarapu, K.; Guergueltcheva, V.; Tournev, I.; Todorova, A.; Ribeiro, J.; Fernández-Mayoralas, D.M.; Ortez, C.; Martorell, L.; Estévez-Arias, B.; Matalonga, L.; Laurie, S.; Jou, C.; Lau, J.; Thompson, R.; Shen, X.; Engel, A.; Nascimento, A.; Lochmuller, H.; Selcen, D.

Neuromuscular Disorders. 43

Estévez-Arias, B.; Palot, N. Bonello; Carrera-García, L.; Ortez, C.; Expósito-Escudero, J.; Yubero, D.; Muchart, J.; Delmont, E.; Nascimento, A.; Hoenicka, J.; Palau, F.; Natera-de Benito, D.

Neuromuscular Disorders. 43

Segarra-Casas, A.; Domínguez-González, C.; Natera-de-Benito, D.; Ortez, C.; Nascimiento, A.; Hernández-Laín, A.; Kapetanovic, S.; Rodríguez, M.; González-Mera, L.; Nedkova, V.; Fernández-Torrón, R.; López-de Munain, A.; Jimenez-Mallebrera, C.; Rodríguez-Santiago, B.; Gallardo, E.; Olivé, M.; Gallano, P.; González-Quereda, L.

Neuromuscular Disorders. 43

Nascimento Osorio, A.; Expósito-Escudero, J.; Medina, J.; Valle, M.; Roca, S.; Moya, O.; Natera De-Benito, D.; Latre, C.; Ortez, C.; Carrera-García, L.

Neuromuscular Disorders. 43

Estévez-Arias, B.; Segarra-Casas, A.; Ortez, C.; Matalonga, L.; Carrera-García, L.; Expósito-Escudero, J.; Jou, C.; Codina, A.; Jiménez-Mallebrera, C.; Martorell, L.; Lochmüller, H.; Töpf, A.; Beltran, S.; Hoenicka, J.; Palau, F.; Martí, I.; Gallano, P.; Nascimento, A.; Natera-de Benito, D.; González-Quereda, L.

Neuromuscular Disorders. 43

Bergada, A. Codina; Nascimento, A.; Lavilla, R.; Ortez, C.; Natera-de Benito, D.; Expósito, J.; Estévez-Arias, B.; Carrera, L.; Martorell, L.; Isaí, A.; Colomer, J.; Jou, C.

Neuromuscular Disorders. 43

Natera De Benito, D.; Favata, A.; Expósito-Escudero, J.; Gallart, R.; Moya, O.; Roca, S.; Gatell, A. Marzabal; van Noort, L.; Ortez, C.; Torras, C.; Nascimento, A.; Medina-Cantillo, J.; Vilà, R. Pàmies; Font-Llagunes, J.

Neuromuscular Disorders. 43

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

Yépez VA; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Demidov G; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Ellwanger K; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; Laurie S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Luknárová R; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Joseph Maran MI; Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.; Hentrich T; Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.; Sagath L; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; van der Sanden B; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Astuti G; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Neveling K; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Batlle-Masó L; Infection in Immunocompromised Pediatric Patients Research Group, Vall d'Hebron Research Institute, Barcelona, Spain.; Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d'Hebron University Hospital, Barcelona, Spain.; Beijer D; Division Translational Genomics of Neurodegenerative Diseases, Hertie-Institute for Clinical Brain Research and Center of Neurology, University of Tübingen, Tübingen, Germany.; Brechtmann F; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Caballero-Oteyza A; RESIST-Cluster of Excellence 2155 to Hannover Medical School, Satellite Center Freiburg, Freiburg, Germany.; Institute for Immunodeficiency, Center for Chronic Immunodeficiency, Medical Center, Faculty of Medicine, Albert Ludwigs University of Freiburg, Freiburg, Germany.; Dabad M; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Denommé-Pichon AS; Medical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Unit 1231 GAD Team, Inserm, Burgundy Europe University, Dijon, France.; Doornbos C; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; Eddafir Z; Applied and Translational Neurogenomics Group, VIB Center for Molecular Neurology, VIB, Antwerp, Belgium.; Applied Translational Neurogenomics Group, Department of Biomedical Sciences, University of Antwerp, Antwerp, Belgium.; Estévez-Arias B; Neuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Laboratory of Neurogenetics and Molecular Medicine, Center for Genomic Sciences in Medicine, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Kilicarslan OA; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Kolen IHM; Division of Neurodegenerative Diseases and Movement Disorders, Department of Neurology, Faculty of Medicine, Heidelberg University Hospital, Heidelberg, Germany.; Kraß L; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany.; Lohmann K; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Londhe S; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany.; Helmholtz Association, Munich School for Data Science, Munich, Germany.; López-Martín E; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain.; Maassen K; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Macken W; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Martínez-Delgado B; Institute of Rare Diseases Research, Spanish Undiagnosed Rare Diseases Cases Program (SpainUDP), Undiagnosed Diseases Network International, Instituto de Salud Carlos III, Madrid, Spain.; CIBER of Rare Diseases (CIBERER), Madrid, Spain.; Mei D; Department of Neuroscience and Medical Genetics, Meyer Children's Hospital IRCCS, Florence, Italy.; Mertes C; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany.; Minardi R; IRCCS Istituto delle Scienze Neurologiche di Bologna, European Reference Network for Rare and Complex Epilepsies (EpiCARE), Bologna, Italy.; Morsy H; Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, UK.; Department of Human Genetics, Medical Research Institute, Alexandria University, Alexandria, Egypt.; Mueller JS; Dubowitz Neuromuscular Centre, UCL Great Ormond Street Hospital, London, UK.; Natera-de Benito D; Neuromuscular Disorders Unit, Department of Pediatric Neurology, Hospital Sant Joan de Déu, Barcelona, Spain.; Applied Research in Neuromuscular Diseases, Institut de Recerca Sant Joan de Déu, Barcelona, Spain.; Center for Biomedical Research Network on Rare Diseases (CIBERER), ISCIII, Madrid, Spain.; Nelson I; Centre de Recherche en Myologie, Institut de Myologie, Inserm, Sorbonne Université, Paris, France.; Oud MM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Paramonov I; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Picó D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Piscia D; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Polavarapu K; Children's Hospital of Eastern Ontario Research Institute, University of Ottawa, Ottawa, Ontario, Canada.; Raineri E; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Savarese M; Folkhälsan Research Centre and Medicum, University of Helsinki, Helsinki, Finland.; Smal N; VIB-CMN, Applied and Translational Neurogenomics Group, University of Antwerp, Antwerp, Belgium.; Steehouwer M; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Steyaert W; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Swertz MA; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Thomsen M; Institute of Neurogenetics, University of Lübeck, Lübeck, Germany.; Töpf A; John Walton Muscular Dystrophy Research Centre, Translational and Clinical Research Institute, Newcastle University and Newcastle Hospitals NHS Foundation Trust, Newcastle upon Tyne, UK.; Van de Vondel L; Peripheral Neuropathy Research Group, University of Antwerp, Antwerp, Belgium.; Laboratory of Neuromuscular Pathology, Institute Born-Bunge, University of Antwerp, Antwerp, Belgium.; Translational Neurosciences, Faculty of Medicine and Health Sciences, University of Antwerp, Antwerp, Belgium.; van der Vries G; Department of Genetics, Genomics Coordination Center, University Medical Center Groningen, University of Groningen, Groningen, the Netherlands.; Vitobello A; Medical Genomics, FHU TRANSLAD, Dijon University Hospital, Dijon, France.; Unit 1231 GAD Team, Inserm, Burgundy Europe University, Dijon, France.; Wilke C; Department of Neurodegeneration, Hertie Institute for Clinical Brain Research, University of Tübingen, Tübingen, Germany.; German Center for Neurodegenerative Diseases, Tübingen, Germany.; Zurek B; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany.; T' Hoen PB; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Center for Molecular and Biomolecular Informatics, Radboud University Medical Center, Nijmegen, the Netherlands.; Matalonga L; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Vissers LELM; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, the Netherlands.; Gilissen C; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Radboud Institute for Molecular Life Sciences, Nijmegen, the Netherlands.; Schulze-Hentrich J; Department of Genetics/Epigenetics, Faculty NT, Saarland University, Saarbrücken, Germany.; Beltran S; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Departament de Genètica, Microbiologia i Estadística, Facultat de Biologia, Universitat de Barcelona, Barcelona, Spain.; Esteve-Codina A; Centro Nacional de Análisis Genómico (CNAG), Barcelona, Spain.; Universitat de Barcelona, Barcelona, Spain.; Hoischen A; Department of Human Genetics, Research Institute for Medical Innovation, Radboud University Medical Center, Nijmegen, the Netherlands.; Department of Internal Medicine and Radboud Center for Infectious Diseases, Radboud University Medical Center, Nijmegen, the Netherlands.; Gagneur J; School of Computation, Information and Technology, Technical University of Munich, Garching, Germany. gagneur@in.tum.de.; Institute of Human Genetics, School of Medicine, Technical University of Munich, Munich, Germany. gagneur@in.tum.de.; Computational Health Center, Helmholtz Center Munich, Neuherberg, Germany. gagneur@in.tum.de.; Graessner H; Institute of Medical Genetics and Applied Genomics, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.; Centre for Rare Diseases, University of Tübingen, Tübingen, Germany. holm.graessner@med.uni-tuebingen.de.

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

Diaz-Manera J.; Kishnani P. S.; Kushlaf H.; Ladha S.; Mozaffar T.; Straub V.; Toscano A.; van der Ploeg A. T.; Berger K. I.; Clemens P. R.; Chien Y. -H.; Day J. W.; Illarioshkin S.; Roberts M.; Attarian S.; Borges J. L.; Bouhour F.; Choi Y. C.; Erdem-Ozdamar S.; Goker-Alpan O.; Kostera-Pruszczyk A.; Haack K. A.; Hug C.; Huynh-Ba O.; Johnson J.; Thibault N.; Zhou T.; Dimachkie M. M.; Schoser B.; Behin A.; Boentert M.; Carvalho G.; Chahin N.; Charrow J.; Deegan P.; Durmus Tekce H.; Duval F.; Genge A.; Gutmann L.; Henderson R. D.; Hennermann J. B.; Hiwot T.; Hughes D.; Karaa A.; Karam C.; Kautzky-Willer A.; Komaki H.; Laforet P.; Longo N.; Malinova V.; Mare R.; Maxit C.; Mengel E.; Moggio M. G.; Molnar M. J.; Mongini T. E.; Nadaj-Pakleza A.; Nascimento Osorio A.; Noury J. -B.; Oliveira A. S. B.; Parman Y.; Pena L.; Remiche G.; Sciacco M.; Shieh P. B.; Smith C.; Stulnig T.; Taithe F.; Tard C.; Tarnopolsky M.; Vorgerd M.; Whitley C.; Young P.; Alonso-Perez J.; Altemus P.; Aube-Nathier A. -C.; Avelar J. B.; Bailey C.; Bekircan-Kurt C. E.; Billy J.; Boschi S.; Brown K. E.; Carrera Garcia L.; Chase L.; Cirne H.; Danjoux L.; Davion J. -B.; DeArmey S.; Fedotova E.; Gandolfo E.; Grosz Z.; Guellec D.; Guettsches A. -K.; Guglieri M.; Hatcher E.; Helms S.; Hufgard-Leitner M.; Klyushnikov S. A.; Langton J.; Linkova L.; Mavroudakis N.; Mazurova S.; Mori M.; Muller-Miny L.; Musumeci O.; Nance C. S.; Natera-de Benito D.; Neel R.; Niizawa G. A.; Noll L.; Ortega E.; Pasnoor M.; Pautot V.; Potulska-Chromik A.; Pugliese A.; Questienne C.; Ramos Lopes M.; Reyes-Leiva D.; Riedl M.; Rugiero M. F.; Salort-Campana E.; Sgobbi Souza P. V.; Sole G.; Solera L.; Souto Lopes S.; Specht S.; Statland J.; Swenson A.; Tan C. Y.; Tizon S.; van der Beek N. A. M. E.; van Kooten H. A.; Wencel M.; Wenninger S.; Zagnoli F.

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