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Clinical, neuroradiological, and molecular characterization of patients with atypical Zellweger spectrum disorder caused by PEX16 mutations: a case series.
Cheung, Anthony; Argyriou, Catherine; Yergeau, Christine; D'Souza, Yasmin; Riou, Émilie; Lévesque, Sébastien; Raymond, Gerald; Daba, Mebratu; Rtskhiladze, Irakli; Tkemaladze, Tinatin; Adang, Laura; La Piana, Roberta; Bernard, Geneviève; Braverman, Nancy.
Afiliación
  • Cheung A; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, QC, Canada.
  • Argyriou C; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Yergeau C; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • D'Souza Y; Department of Human Genetics, McGill University, Montreal, QC, Canada.
  • Riou É; Department of Pediatrics, Division of Pediatric Neurology, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, QC, Canada.
  • Lévesque S; Department of Pediatrics, Division of Medical Genetics, Centre Hospitalier Universitaire de Sherbrooke, Sherbrooke, QC, Canada.
  • Raymond G; Department of Genetic Medicine, Johns Hopkins Medicine, Baltimore, MD, USA.
  • Daba M; Carilion Children's Pediatric Neurology, Roanoke, VA, USA.
  • Rtskhiladze I; Medical Center Mrcheveli, Tbilisi, Georgia.
  • Tkemaladze T; Department of Molecular and Medical Genetics, Tbilisi State Medical University, Tbilisi, Georgia.
  • Adang L; Division of Neurology, Children's Hospital of Philadelphia, Philadelphia, PA, USA.
  • La Piana R; Department of Neurology & Neurosurgery, Montreal Neurological Institute, McGill University, Montreal, QC, Canada.
  • Bernard G; Department of Radiology, McGill University, Montreal, QC, Canada.
  • Braverman N; Department of Specialized Medicine, Division of Medical Genetics, McGill University Health Center, Montreal, QC, Canada.
Neurogenetics ; 23(2): 115-127, 2022 04.
Article en En | MEDLINE | ID: mdl-35106698
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Zellweger / Distonía Límite: Female / Humans / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos
Texto completo
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Síndrome de Zellweger / Distonía Límite: Female / Humans / Male Idioma: En Revista: Neurogenetics Asunto de la revista: GENETICA / NEUROLOGIA Año: 2022 Tipo del documento: Article País de afiliación: Canadá Pais de publicación: Estados Unidos