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A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
Cohen-Barak, Eran; Danial-Farran, Nada; Chervinsky, Elana; Alimi-Kasem, Ola; Zagairy, Fadia; Livneh, Ido; Mawassi, Bannan; Hreish, Maysa; Khayat, Morad; Lossos, Alexander; Meiner, Vardiella; Ehilevitch, Nina; Weiss, Karin; Shalev, Stavit.
Afiliação
  • Cohen-Barak E; Department of Dermatology, Emek Medical Center, Afula, Israel erancb79@gmail.com.
  • Danial-Farran N; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.
  • Chervinsky E; Genetic Institute, Emek Medical Center, Afula, Israel.
  • Alimi-Kasem O; Genetic Institute, Emek Medical Center, Afula, Israel.
  • Zagairy F; Genetic Institute, Emek Medical Center, Afula, Israel.
  • Livneh I; Department of Dermatology, Emek Medical Center, Afula, Israel.
  • Mawassi B; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.
  • Hreish M; Department of Dermatology, Emek Medical Center, Afula, Israel.
  • Khayat M; Department of Dermatology, Emek Medical Center, Afula, Israel.
  • Lossos A; Genetic Institute, Emek Medical Center, Afula, Israel.
  • Meiner V; Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Ehilevitch N; Hadassah-Hebrew University Medical Center, Jerusalem, Israel.
  • Weiss K; Rambam Health Care Campus, Haifa, Israel.
  • Shalev S; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.
J Med Genet ; 60(3): 233-240, 2023 03.
Article em En | MEDLINE | ID: mdl-35710109
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Israel
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Paraplegia Espástica Hereditária Tipo de estudo: Risk_factors_studies Limite: Humans Idioma: En Revista: J Med Genet Ano de publicação: 2023 Tipo de documento: Article País de afiliação: Israel