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Truncating mutations in YIF1B cause a progressive encephalopathy with various degrees of mixed movement disorder, microcephaly, and epilepsy.
AlMuhaizea, Mohammed; AlMass, Rawan; AlHargan, Aljouhra; AlBader, Anoud; Medico Salsench, Eva; Howaidi, Jude; Ihinger, Jacie; Karachunski, Peter; Begtrup, Amber; Segura Castell, Monica; Bauer, Peter; Bertoli-Avella, Aida; Kaya, Ibrahim H; AlSufayan, Jumanah; AlQuait, Laila; Chedrawi, Aziza; Arold, Stefan T; Colak, Dilek; Barakat, Tahsin Stefan; Kaya, Namik.
Afiliação
  • AlMuhaizea M; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
  • AlMass R; College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
  • AlHargan A; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • AlBader A; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Medico Salsench E; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Howaidi J; Department of Clinical Genetics, Erasmus MC University Medical Center, Rotterdam, The Netherlands.
  • Ihinger J; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Karachunski P; University of Minnesota Medical Center, Minneapolis, MN, 55455, USA.
  • Begtrup A; Department of Neurology, University of Minnesota, Minneapolis, MN, 55455, USA.
  • Segura Castell M; GeneDx, Gaithersburg, MD, 20877, USA.
  • Bauer P; CENTOGENE AG, Am Strande 7, 18055, Rostock, Germany.
  • Bertoli-Avella A; CENTOGENE AG, Am Strande 7, 18055, Rostock, Germany.
  • Kaya IH; CENTOGENE AG, Am Strande 7, 18055, Rostock, Germany.
  • AlSufayan J; College of Medicine, AlFaisal University, Riyadh, Saudi Arabia.
  • AlQuait L; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Chedrawi A; Department of Genetics, KFSHRC, Riyadh, Saudi Arabia.
  • Arold ST; Department of Neurosciences, King Faisal Specialist Hospital and Research Centre (KFSHRC), Riyadh, Saudi Arabia.
  • Colak D; Division of Biological and Environmental Sciences and Engineering (BESE), Computational Bioscience Research Center (CBRC), King Abdullah University of Science and Technology (KAUST), Thuwal, 23955-6900, Saudi Arabia.
  • Barakat TS; Centre de Biochimie Structurale, CNRS, INSERM, Université de Montpellier, 34090, Montpellier, France.
  • Kaya N; Department of Biostatistics, Epidemiology and Scientific Computing, KFSHRC, Riyadh, Saudi Arabia.
Acta Neuropathol ; 139(4): 791-794, 2020 04.
Article em En | MEDLINE | ID: mdl-32006098
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Proteínas de Transporte Vesicular / Epilepsia / Microcefalia / Transtornos dos Movimentos Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Acta Neuropathol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Arábia Saudita
Texto completo
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XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Encefalopatias / Proteínas de Transporte Vesicular / Epilepsia / Microcefalia / Transtornos dos Movimentos Limite: Child / Child, preschool / Female / Humans / Male Idioma: En Revista: Acta Neuropathol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: Arábia Saudita