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Novel mutation in CNTNAP1 results in congenital hypomyelinating neuropathy.
Mehta, Paulomi; Küspert, Melanie; Bale, Tejus; Brownstein, Catherine A; Towne, Meghan C; De Girolami, Umberto; Shi, Jiahai; Beggs, Alan H; Darras, Basil T; Wegner, Michael; Piao, Xianhua; Agrawal, Pankaj B.
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  • Mehta P; Division of Newborn Medicine, Department of Medicine, Boston Children's Hospital, 300 Longwood Avenue, Harvard Medical School, Boston, Massachusetts, 02115, USA.
  • Küspert M; Institut für Biochemie, Emil-Fischer-Zentrum, Friedrich-Alexander-Universität Erlangen-Nürnberg, Erlangen, Germany.
  • Bale T; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Brownstein CA; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Towne MC; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • De Girolami U; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Shi J; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Beggs AH; Department of Pathology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Darras BT; Department of Biomedical Sciences, City University of Hong Kong, Hong Kong.
  • Wegner M; Division of Genetics and Genomics, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Piao X; The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
  • Agrawal PB; Department of Neurology, Boston Children's Hospital, Harvard Medical School, Boston, Massachusetts, USA.
Muscle Nerve ; 55(5): 761-765, 2017 05.
Article en En | MEDLINE | ID: mdl-27668699
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Moléculas de Adhesión Celular Neuronal / Mutación Missense Tipo de estudio: Prognostic_studies Idioma: En Revista: Muscle Nerve Año: 2017 Tipo del documento: Article
Texto completo
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PubMed Links
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Texto completo: 1 Base de datos: MEDLINE Asunto principal: Enfermedad de Charcot-Marie-Tooth / Moléculas de Adhesión Celular Neuronal / Mutación Missense Tipo de estudio: Prognostic_studies Idioma: En Revista: Muscle Nerve Año: 2017 Tipo del documento: Article