Reply:ALDH18A1gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism | Zendy

Marie Coutelier | Zendy; Fanny Mochel | Zendy; JeanMarie Saudubray | Zendy; Chris Ottolenghi | Zendy; Giovanni Stévanin | Zendy

Open Access

Reply:ALDH18A1gene mutations cause dominant spastic paraplegia SPG9: loss of function effect and plausibility of a dominant negative mechanism

Author(s) -

Marie Coutelier,

Fanny Mochel,

JeanMarie Saudubray,

Chris Ottolenghi,

Giovanni Stévanin

Publication year - 2015

Publication title -

brain

Language(s) - French

Resource type - Journals

SCImago Journal Rank - 5.142

H-Index - 336

eISSN - 1460-2156

pISSN - 0006-8950

DOI - 10.1093/brain/awv248

Subject(s) - mechanism (biology) , hereditary spastic paraplegia , paraplegia , loss function , spastic , neuroscience , genetics , mutation , function (biology) , gene , psychology , physical medicine and rehabilitation , phenotype , medicine , biology , spinal cord , philosophy , epistemology , cerebral palsy

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMRS_1127, F-75013, Paris, France 4 Institut du Cerveau et de la Moelle épinière, ICM, F-75013, Paris, France 5 Laboratory of Human Molecular Genetics, de Duve Institute, Université catholique de Louvain, B-1200, Brussels, Belgium 6 Ecole Pratique des Hautes Etudes, F-75014, Paris, France 7 APHP, Hôpital de la Pitié-Salpêtrière, Département de Génétique, F-75013, Paris, France 8 Metabolic Biochemistry Lab, Necker-Enfants Malades Hospital, APHP, F-75015; and University Paris Descartes, F-75006, Paris, France

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