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Functional validation of ABHD12 mutations in the neurodegenerative disease PHARC.
Tingaud-Sequeira, Angèle; Raldúa, Demetrio; Lavie, Julie; Mathieu, Guilaine; Bordier, Magali; Knoll-Gellida, Anja; Rambeau, Pierre; Coupry, Isabelle; André, Michèle; Malm, Eva; Möller, Claes; Andreasson, Sten; Rendtorff, Nanna D; Tranebjærg, Lisbeth; Koenig, Michel; Lacombe, Didier; Goizet, Cyril; Babin, Patrick J.
Afiliação
  • Tingaud-Sequeira A; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France.
  • Raldúa D; IDÆA-CSIC, Barcelona, Spain.
  • Lavie J; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France.
  • Mathieu G; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France.
  • Bordier M; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France; CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Bordeaux, France.
  • Knoll-Gellida A; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France.
  • Rambeau P; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France.
  • Coupry I; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France.
  • André M; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France.
  • Malm E; Department of Ophthalmology, Lund University Hospital, Lund, Sweden.
  • Möller C; School of Medicine and Health, Örebro University, Sweden.
  • Andreasson S; Department of Ophthalmology, Lund University Hospital, Lund, Sweden.
  • Rendtorff ND; Department Audiology, Bispebjerg Hospital/Rigshospitalet, Department of Clinical Genetics, Rigshospitalet/The Kennedy Center, University of Copenhagen, Institute for Clinical Medicine Copenhagen, Denmark.
  • Tranebjærg L; Department Audiology, Bispebjerg Hospital/Rigshospitalet, Department of Clinical Genetics, Rigshospitalet/The Kennedy Center, University of Copenhagen, Institute for Clinical Medicine Copenhagen, Denmark.
  • Koenig M; Laboratoire de Génétique Moléculaire et unité INSERM UMR_S827, IURC, Montpellier, France.
  • Lacombe D; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France; CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Bordeaux, France.
  • Goizet C; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France; CHU Bordeaux, Hôpital Pellegrin, Service de Génétique Médicale, Bordeaux, France.
  • Babin PJ; Univ. Bordeaux, INSERM U1211, Maladies Rares: Génétique et Métabolisme (MRGM), F-33076 Bordeaux, France. Electronic address: p.babin@gpp.u-bordeaux1.fr.
Neurobiol Dis ; 98: 36-51, 2017 Feb.
Article em En | MEDLINE | ID: mdl-27890673
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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Polineuropatias / Ataxia / Catarata / Retinose Pigmentar / Mutação de Sentido Incorreto / Monoacilglicerol Lipases Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar no Google

Texto completo: 1 Base de dados: MEDLINE Assunto principal: Polineuropatias / Ataxia / Catarata / Retinose Pigmentar / Mutação de Sentido Incorreto / Monoacilglicerol Lipases Tipo de estudo: Prognostic_studies Limite: Adult / Animals / Female / Humans Idioma: En Ano de publicação: 2017 Tipo de documento: Article