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ATP8A2-related disorders as recessive cerebellar ataxia.
Guissart, Claire; Harrison, Alexander N; Benkirane, Mehdi; Oncel, Ibrahim; Arslan, Elif Acar; Chassevent, Anna K; Baraῆano, Kristin; Larrieu, Lise; Iascone, Maria; Tenconi, Romano; Claustres, Mireille; Eroglu-Ertugrul, Nesibe; Calvas, Patrick; Topaloglu, Haluk; Molday, Robert S; Koenig, Michel.
Afiliação
  • Guissart C; Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, CHU Montpellier, 640 av. Doyen G. Giraud CEDEX 5, 34295, Montpellier, France. claire.guissart@inserm.fr.
  • Harrison AN; Biochemistry & Molecular Biology, University of British Columbia, Vancouver, Canada.
  • Benkirane M; Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, CHU Montpellier, 640 av. Doyen G. Giraud CEDEX 5, 34295, Montpellier, France.
  • Oncel I; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
  • Arslan EA; Department of Pediatric Neurology, Karadeniz Technical University School of Medicine, Trabzon, Turkey.
  • Chassevent AK; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Baraῆano K; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, MD, USA.
  • Larrieu L; Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, CHU Montpellier, 640 av. Doyen G. Giraud CEDEX 5, 34295, Montpellier, France.
  • Iascone M; Laboratory of Genetic Medicine, ASST Papa Giovanni XXIII, Bergamo, Italy.
  • Tenconi R; Dipartimento di Pediatria, Genetica Clinica, Università di Padova, Padova, Italy.
  • Claustres M; Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, CHU Montpellier, 640 av. Doyen G. Giraud CEDEX 5, 34295, Montpellier, France.
  • Eroglu-Ertugrul N; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
  • Calvas P; Department of Clinical Genetics, Purpan University Hospital, Toulouse, France.
  • Topaloglu H; Department of Pediatric Neurology, Hacettepe University Children's Hospital, Ankara, Turkey.
  • Molday RS; Biochemistry & Molecular Biology, University of British Columbia, Vancouver, Canada.
  • Koenig M; Laboratoire de Génétique de Maladies Rares EA7402, Institut Universitaire de Recherche Clinique, Université de Montpellier, CHU Montpellier, 640 av. Doyen G. Giraud CEDEX 5, 34295, Montpellier, France.
J Neurol ; 267(1): 203-213, 2020 Jan.
Article em En | MEDLINE | ID: mdl-31612321

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Adenosina Trifosfatases / Proteínas de Transferência de Fosfolipídeos Tipo de estudo: Clinical_trials Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França País de publicação: Alemanha

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Ataxia Cerebelar / Adenosina Trifosfatases / Proteínas de Transferência de Fosfolipídeos Tipo de estudo: Clinical_trials Limite: Adult / Child / Child, preschool / Female / Humans / Infant / Male Idioma: En Revista: J Neurol Ano de publicação: 2020 Tipo de documento: Article País de afiliação: França País de publicação: Alemanha