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10 results on '"Allibert R"'

9. An AluYa5 Insertion in the 3'UTR of COL4A1 and Cerebral Small Vessel Disease.

Author

Aloui C, Neumann L, Bergametti F, Sartori E, Herbreteau M, Maillard A, Coste T, Morel H, Hervé D, Chabriat H, Timsit S, Viakhireva I, Denoyer Y, Allibert R, Demurger F, Gollion C, Vermersch P, Marchelli F, Blugeon C, Lemoine S, Tourtier-Bellosta C, Brouazin A, Leutenegger AL, Pipiras E, and Tournier-Lasserve E

Subjects
Adult, Female, Humans, Middle Aged, Alleles, Case-Control Studies, Protein Isoforms, Mutagenesis, Insertional, 3' Untranslated Regions genetics, Cerebral Small Vessel Diseases genetics, Collagen Type IV metabolism
Abstract

Importance: Cerebral small vessel diseases (CSVDs) account for one-fifth of stroke cases. Numerous familial cases remain unresolved after routine screening of known CSVD genes., Objective: To identify novel genes and mechanisms associated with familial CSVD., Design, Setting, and Participants: This 2-stage study involved linkage analysis and a case-control study; linkage analysis and whole exome and genome sequencing were used to identify candidate gene variants in 2 large families with CSVD (9 patients with CSVD). Then, a case-control analysis was conducted on 246 unrelated probands, including probands from these 2 families and 244 additional probands. All probands (clinical onset

Published
2024
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10. Dominant optic atrophy, neuropathy, ataxia, white matter FLAIR hypersignals, middle cerebellar peduncule atrophy and asthenia in OPA1 mutation.

Author

Magnin E, Allibert R, Berger E, Dollfus H, and Rumbach L

Subjects
Adult, Asthenia complications, Cerebellar Ataxia complications, Fluorescein Angiography, Humans, Leukoencephalopathies complications, Magnetic Resonance Imaging, Optic Atrophy, Autosomal Dominant complications, Optic Atrophy, Autosomal Dominant pathology, Asthenia genetics, Cerebellar Ataxia genetics, GTP Phosphohydrolases genetics, Leukoencephalopathies genetics, Mutation genetics, Optic Atrophy, Autosomal Dominant genetics
Published
2012
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