The TREAT-NMD DMD global database: Analysis of more than 7,000 duchenne muscular dystrophy mutations

Human Mutation

Volumn 36, Issue 4, 2015, Pages 395-402

  Bladen, Catherine L ^a,ar   Salgado, David ^b,ar   Monges, Soledad ^c   Foncuberta, Maria E ^c   Kekou, Kyriaki ^d   Kosma, Konstantina ^d,e   Dawkins, Hugh ^f   Lamont, Leanne ^f   Roy, Anna J ^g   Chamova, Teodora ^h   Guergueltcheva, Velina ^h   Chan, Sophelia ⁱ   Korngut, Lawrence ^j   Campbell, Craig ^k   Dai, Yi ^l   Wang, Jen ^m   Barišić, Nina ⁿ   Brabec, Petr ^o   Lahdetie, Jaana ^p   Walter, Maggie C ^q   Schreiber Katz, Olivia ^q   Karcagi, Veronika ^r   Garami, Marta ^r   Viswanathan, Venkatarman ^s   Bayat, Farhad ^t   Buccella, Filippo ^u   Kimura, En ^v   Koeks, Zaïda ^w   van den Bergen, Janneke C ^w   Rodrigues, Miriam ^x   Roxburgh, Richard ^x   Lusakowska, Anna ^y   Kostera Pruszczyk, Anna ^y   Zimowski, Janusz ^z   Santos, Rosário ^aa   Neagu, Elena ^ab   Artemieva, Svetlana ^ac   Rasic, Vedrana Milic ^ad   Vojinovic, Dina ^ad   Posada, Manuel ^ae   Bloetzer, Clemens ^af   Jeannet, Pierre Yves ^af   Joncourt, Franziska ^ag   Díaz Manera, Jordi ^ah   Gallardo, Eduard ^ah   Karaduman, A Ayşe ^ai   Topaloğlu, Haluk ^ai   El Sherif, Rasha ^aj   Stringer, Angela ^ak   Shatillo, Andriy V ^al   Martin, Ann S ^am   Peay, Holly L ^am   Bellgard, Matthew I ^an   Kirschner, Jan ^ao   Flanigan, Kevin M ^ap   Straub, Volker ^a   Bushby, Kate ^a   Verschuuren, Jan ^w   Aartsma Rus, Annemieke ^a,w   Béroud, Christophe ^b,aq   Lochmüller, Hanns ^a   more..

^a NEWCASTLE UNIVERSITY   (United Kingdom)

^b AIX MARSEILLE UNIVERSITY   (France)

^c HOSPITAL DE PEDIATRÍA PROF DR JUAN P GARRAHAN   (Argentina)

^d UNIVERSITY OF ATHENS MEDICAL SCHOOL   (Greece)

^e Choremio Research Laboratory St Sophia's Children's Hospital Thinon and Levadia Goudi   (Greece)

^f DEPARTMENT OF HEALTH   (Australia)

^g SCIENTIFIC INSTITUTE OF PUBLIC HEALTH   (Belgium)

^h MEDICAL UNIVERSITY OF SOFIA   (Bulgaria)

ⁱ UNIVERSITY OF HONG KONG   (Hong Kong)

^j UNIVERSITY OF CALGARY   (Canada)

^k UNIVERSITY OF WESTERN ONTARIO   (Canada)

^l PEKING UNION MEDICAL COLLEGE HOSPITAL   (China)

^m GENERAL HOSPITAL OF CHINESE PEOPLE'S ARMED POLICE FORCES   (China)

ⁿ KBC Zagreb   (Croatia)

^o MASARYK UNIVERSITY   (Czech Republic)

^p TURKU UNIVERSITY HOSPITAL   (Finland)

^q LUDWIG MAXIMILIANS UNIVERSITY   (Germany)

^r NATIONAL INSTITUTE OF ENVIRONMENTAL HEALTH   (Hungary)

^s MEDICAL RESEARCH FOUNDATION   (India)

^t PASTEUR INSTITUTE OF IRAN   (Iran)

^u Parent Project Onlus   (Italy)

^v Leiden University Medical Center ^*  (Japan)

^w LEIDEN UNIVERSITY MEDICAL CENTER   (Netherlands)

^x AUCKLAND DISTRICT HEALTH BOARD   (New Zealand)

^y MEDICAL UNIVERSITY OF WARSAW   (Poland)

^z INSTITUTE OF PSYCHIATRY AND NEUROLOGY   (Poland)

^aa Centro de Genética Médica Doutor Jacinto de Magalhães CHP EPE   (Portugal)

^ab NATIONAL INSTITUTE OF LEGAL MEDICINE MINA MINOVICI   (Romania)

^ac Institute of Pediatrics   (Russian Federation)

^ad UNIVERSITY OF BELGRADE   (Serbia)

^ae INSTITUTO DE SALUD CARLOS III   (Spain)

^af LAUSANNE UNIVERSITY HOSPITAL   (Switzerland)

^ag UNIVERSITY OF BERN   (Switzerland)

^ah HOSPITAL CLÍNIC   (Spain)

^ai HACETTEPE UNIVERSITY   (Turkey)

^aj AIN SHAMS UNIVERSITY   (Egypt)

^ak UNIVERSITY COLLEGE LONDON   (United Kingdom)

^al Inst Neurol Psychiat Narcology   (Ukraine)

^am Duchenne Connect   (United States)

^an MURDOCH UNIVERSITY   (Australia)

^ao UNIVERSITY OF FREIBURG   (Germany)

^ap NATIONWIDE CHILDREN S HOSPITAL   (United States)

^aq TIMONE HOSPITAL   (France)

^ar Lawrence Korngut present address is Clinical Neurosciences   (Canada)

more..

Author keywords

DMD; Duchenne muscular dystrophy; Rare disease registries; TREAT NMD

Indexed keywords

ARTICLE; DUCHENNE MUSCULAR DYSTROPHY; EXON; EXON SKIPPING; GENE DELETION; GENE DUPLICATION; GENE INSERTION; GENE MUTATION; GENE THERAPY; GENETIC ANALYSIS; GENETIC DATABASE; HUMAN; INTRON; MISSENSE MUTATION; NONSENSE MUTATION; POINT MUTATION; PRIORITY JOURNAL; RNA SPLICING; STOP CODON; GENETICS; MUTATION; REGISTER;

DYSTROPHIN;

DATABASES, GENETIC; DYSTROPHIN; HUMANS; MUSCULAR DYSTROPHY, DUCHENNE; MUTATION; REGISTRIES;

EID: 84925879816     PISSN: 10597794     EISSN: 10981004     Source Type: Journal    
DOI: 10.1002/humu.22758     Document Type: Article

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