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Novel De Novo Mutations in KIF1A as a Cause of Hereditary Spastic Paraplegia With Progressive Central Nervous System Involvement.
Hotchkiss, Leslie; Donkervoort, Sandra; Leach, Meganne E; Mohassel, Payam; Bharucha-Goebel, Diana X; Bradley, Nathaniel; Nguyen, David; Hu, Ying; Gurgel-Giannetti, Juliana; Bönnemann, Carsten G.
Affiliation
  • Hotchkiss L; National Institutes of Health, Bethesda, MD, USA Weill Cornell Medical College, New York, NY, USA.
  • Donkervoort S; National Institutes of Health, Bethesda, MD, USA.
  • Leach ME; National Institutes of Health, Bethesda, MD, USA Children's National Medical Center, Washington, DC, USA.
  • Mohassel P; National Institutes of Health, Bethesda, MD, USA.
  • Bharucha-Goebel DX; National Institutes of Health, Bethesda, MD, USA Children's National Medical Center, Washington, DC, USA.
  • Bradley N; National Institutes of Health, Bethesda, MD, USA.
  • Nguyen D; National Institutes of Health, Bethesda, MD, USA.
  • Hu Y; National Institutes of Health, Bethesda, MD, USA.
  • Gurgel-Giannetti J; Universidade Federal de Minas Gerais, Belo Horizonte-MG, Brazil.
  • Bönnemann CG; National Institutes of Health, Bethesda, MD, USA carsten.bonnemann@nih.gov.
J Child Neurol ; 31(9): 1114-9, 2016 08.
Article in En | MEDLINE | ID: mdl-27034427
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Full text: 1 Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Kinesins / Genetic Predisposition to Disease / Mutation, Missense Type of study: Prognostic_studies Limits: Adolescent / Child / Humans / Male Language: En Journal: J Child Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2016 Type: Article Affiliation country: United States
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Full text: 1 Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / Kinesins / Genetic Predisposition to Disease / Mutation, Missense Type of study: Prognostic_studies Limits: Adolescent / Child / Humans / Male Language: En Journal: J Child Neurol Journal subject: NEUROLOGIA / PEDIATRIA Year: 2016 Type: Article Affiliation country: United States