Your browser doesn't support javascript.
loading
CCDC88A mutations cause PEHO-like syndrome in humans and mouse.
Nahorski, Michael S; Asai, Masato; Wakeling, Emma; Parker, Alasdair; Asai, Naoya; Canham, Natalie; Holder, Susan E; Chen, Ya-Chun; Dyer, Joshua; Brady, Angela F; Takahashi, Masahide; Woods, C Geoffrey.
  • Nahorski MS; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK.
  • Asai M; Department of Pathology, Centre for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466N, Japan.
  • Wakeling E; North West Thames Regional Genetics Service, Level 8V, London North West Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ, UK.
  • Parker A; Department of Paediatric Neuroscience, Addenbrooke's Hospital, Hills Rd, Cambridge, CB2 0QQ, UK.
  • Asai N; Department of Pathology, Centre for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466N, Japan.
  • Canham N; North West Thames Regional Genetics Service, Level 8V, London North West Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ, UK.
  • Holder SE; North West Thames Regional Genetics Service, Level 8V, London North West Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ, UK.
  • Chen YC; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK.
  • Dyer J; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK.
  • Brady AF; North West Thames Regional Genetics Service, Level 8V, London North West Healthcare NHS Trust, Watford Road, Harrow, HA1 3UJ, UK cw347@cam.ac.uk angela.brady@nhs.net mtakaha@med.nagoya-u.ac.jp.
  • Takahashi M; Department of Pathology, Centre for Neurological Disease and Cancer, Nagoya University Graduate School of Medicine, 65 Tsurumai-cho, Showa-ku, Nagoya, Aichi, 466N, Japan cw347@cam.ac.uk angela.brady@nhs.net mtakaha@med.nagoya-u.ac.jp.
  • Woods CG; Cambridge Institute for Medical Research, University of Cambridge, Cambridge, CB2 0XY, UK cw347@cam.ac.uk angela.brady@nhs.net mtakaha@med.nagoya-u.ac.jp.
Brain ; 139(Pt 4): 1036-44, 2016 Apr.
Article en En | MEDLINE | ID: mdl-26917597
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Edema Encefálico / Atrofia Óptica / Enfermedades Neurodegenerativas / Proteínas de Transporte Vesicular / Proteínas de Microfilamentos / Mutación Límite: Animals / Child / Female / Humans / Infant / Male Idioma: En Año: 2016 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Search on Google

Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Espasmos Infantiles / Edema Encefálico / Atrofia Óptica / Enfermedades Neurodegenerativas / Proteínas de Transporte Vesicular / Proteínas de Microfilamentos / Mutación Límite: Animals / Child / Female / Humans / Infant / Male Idioma: En Año: 2016 Tipo del documento: Article