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Compound heterozygous variants in SHQ1 are associated with a spectrum of neurological features, including early-onset dystonia.
Sleiman, Sophie; Marshall, Aren E; Dong, Xiaomin; Mhanni, Aziz; Alidou-D'Anjou, Ismaël; Frosk, Patrick; Marin, Samantha E; Stark, Zornitza; Del Bigio, Marc R; McBride, Arran; Sadedin, Simon; Gallacher, Lyndon; Christodoulou, John; Boycott, Kym M; Dragon, François; Kernohan, Kristin D.
Afiliação
  • Sleiman S; Centre d'excellence en recherche sur les maladies orphelines - Fondation Courtois (CERMO-FC), Département des sciences biologiques, Université du Québec à Montréal, Montréal, Québec, H3C 3P8, Canada.
  • Marshall AE; Children's Hospital of Eastern Ontario Research Institute, Ottawa, K1H 8L1, Canada.
  • Dong X; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Mhanni A; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Alidou-D'Anjou I; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, R3E0W2, Canada.
  • Frosk P; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, R3E0W2, Canada.
  • Marin SE; Centre d'excellence en recherche sur les maladies orphelines - Fondation Courtois (CERMO-FC), Département des sciences biologiques, Université du Québec à Montréal, Montréal, Québec, H3C 3P8, Canada.
  • Stark Z; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, R3E0W2, Canada.
  • Del Bigio MR; Department of Biochemistry and Medical Genetics, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, R3E0W2, Canada.
  • McBride A; Department of Pediatrics and Child Health, Max Rady College of Medicine, Rady Faculty of Health Sciences, University of Manitoba, Winnipeg, R3E0W2, Canada.
  • Sadedin S; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Gallacher L; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Christodoulou J; Children's Hospital of Eastern Ontario Research Institute, Ottawa, K1H 8L1, Canada.
  • Boycott KM; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
  • Dragon F; Department of Paediatrics, University of Melbourne, Melbourne, VIC 3052, Australia.
  • Kernohan KD; Murdoch Children's Research Institute, Melbourne, VIC 3052, Australia.
Hum Mol Genet ; 31(4): 614-624, 2022 02 21.
Article em En | MEDLINE | ID: mdl-34542157
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Proteínas de Saccharomyces cerevisiae / Peptídeos e Proteínas de Sinalização Intracelular / Distonia Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Distúrbios Distônicos / Proteínas de Saccharomyces cerevisiae / Peptídeos e Proteínas de Sinalização Intracelular / Distonia Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Ano de publicação: 2022 Tipo de documento: Article