Research ArticleADULT BRAIN
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy and F. Mochel
American Journal of Neuroradiology April 2019, DOI: https://doi.org/10.3174/ajnr.A6036
L. Saint-Val
aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
T. Courtin
aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
P. Charles
aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
C. Verny
dDepartment of Neurology and Reference Center for Neurogenetic Diseases (C.V.), Angers University Hospital, Angers, France
M. Catala
cDepartment of Neurology (M.C.), Assistance Publique-Hôpitaux de Paris, La Pitié-Salpêtrière University Hospital, Paris, France
eSorbonne Université (M.C.), Centre National de la Recherche Scientifique UMR 7622, Institut National de la Santé et de la Recherche Médicale ERL 1156, Institut de Biologie Paris-Seine, Paris, France
R. Schiffmann
fBaylor Scott & White Research Institute (R.S.), Dallas, Texas
O. Boespflug-Tanguy
gDepartment of Neuropediatrics and Reference Center for Leukodystrophy and Leukoencephalopathy (O.B.-T.), Assistance Publique–Hôpitaux de Paris, Robert-Debré University Hospital, Paris, France
F. Mochel
aFrom the Department of Genetics (L.S.-V., T.C., P.C., F.M.)
bReference Center for Adult Neurometabolic Diseases (F.M.)
hGroupe de Recherche Clinique No. 13, Neurométabolisme (F.M.), Sorbonne Université, Paris, France
iSorbonne Université (F.M.), Université Pierre-et-Marie-Curie–Paris 6, UMR S 1127 and Institut National de la Santé et de la Recherche Médicale U 1127, and Centre National de la Recherche Scientifique UMR 7225, and Brain and Spine Institute, F-75013, Paris, France.
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GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
L. Saint-Val, T. Courtin, P. Charles, C. Verny, M. Catala, R. Schiffmann, O. Boespflug-Tanguy, F. Mochel
American Journal of Neuroradiology Apr 2019, DOI: 10.3174/ajnr.A6036
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