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A De Novo HECW2 Variant in a Patient with Acetazolamide-Responsive Episodic Ataxia.
Tedesco Silva, Leticia Maria; Sharma, Sonali; Schrauwen, Isabelle; Margolesky, Jason; Detyniecki, Kamil.
Afiliação
  • Tedesco Silva LM; Epilepsy Division, Neurology Department, University of Miami, 1120 NW 14th St, 13th Floor, Miami, FL, 33136, USA. tedesco.leticia@miami.edu.
  • Sharma S; Epilepsy Division, Neurology Department, University of Miami, 1120 NW 14th St, 13th Floor, Miami, FL, 33136, USA.
  • Schrauwen I; Center for Statistical Genetics, Gertrude H. Sergievsky Center, and the Department of Neurology, Columbia University Medical Center, New York, NY, USA.
  • Margolesky J; Movements Disorders Division, Neurology Department, University of Miami, Miami, FL, USA.
  • Detyniecki K; Epilepsy Division, Neurology Department, University of Miami, 1120 NW 14th St, 13th Floor, Miami, FL, 33136, USA.
Cerebellum ; 22(5): 1029-1033, 2023 Oct.
Article em En | MEDLINE | ID: mdl-35987951
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Acetazolamida Limite: Adult / Female / Humans / Newborn Idioma: En Ano de publicação: 2023 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia / Acetazolamida Limite: Adult / Female / Humans / Newborn Idioma: En Ano de publicação: 2023 Tipo de documento: Article