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Page 1
High rate of hypomorphic variants as the cause of inherited ataxia and related diseases: study of a cohort of 366 families.
Benkirane M, Marelli C, Guissart C, Roubertie A, Ollagnon E, Choumert A, Fluchère F, Magne FO, Halleb Y, Renaud M, Larrieu L, Baux D, Patat O, Bousquet I, Ravel JM, Cuntz-Shadfar D, Sarret C, Ayrignac X, Rolland A, Morales R, Pointaux M, Lieutard-Haag C, Laurens B, Tillikete C, Bernard E, Mallaret M, Carra-Dallière C, Tranchant C, Meyer P, Damaj L, Pasquier L, Acquaviva C, Chaussenot A, Isidor B, Nguyen K, Camu W, Eusebio A, Carrière N, Riquet A, Thouvenot E, Gonzales V, Carme E, Attarian S, Odent S, Castrioto A, Ewenczyk C, Charles P, Kremer L, Sissaoui S, Bahi-Buisson N, Kaphan E, Degardin A, Doray B, Julia S, Remerand G, Fraix V, Haidar LA, Lazaro L, Laugel V, Villega F, Charlin C, Frismand S, Moreira MC, Witjas T, Francannet C, Walther-Louvier U, Fradin M, Chabrol B, Fluss J, Bieth E, Castelnovo G, Vergnet S, Meunier I, Verloes A, Brischoux-Boucher E, Coubes C, Geneviève D, Lebouc N, Azulay JP, Anheim M, Goizet C, Rivier F, Labauge P, Calvas P, Koenig M. Benkirane M, et al. Among authors: labauge p. Genet Med. 2021 Nov;23(11):2160-2170. doi: 10.1038/s41436-021-01250-6. Epub 2021 Jul 7. Genet Med. 2021. PMID: 34234304 Free article.
Chemical meningitis in reaction to subarachnoid fatty droplets.
Castro S, Castelnovo G, Lebayon A, Fuentes S, Bouly S, Labauge P. Castro S, et al. Among authors: labauge p. Neurology. 2005 Sep 27;65(6):937. doi: 10.1212/01.wnl.0000181350.70430.4f. Neurology. 2005. PMID: 16186540 No abstract available.
[Writer's cramp secondary to spinocerebellar ataxia type 7].
Gaillard N, Castelnovo G, Brice A, Labauge P. Gaillard N, et al. Among authors: labauge p. Rev Neurol (Paris). 2007 May;163(5):589-91. doi: 10.1016/s0035-3787(07)90465-8. Rev Neurol (Paris). 2007. PMID: 17571027 French.
Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.
Bannwarth S, Procaccio V, Rouzier C, Fragaki K, Poole J, Chabrol B, Desnuelle C, Pouget J, Azulay JP, Attarian S, Pellissier JF, Gargus JJ, Abdenur JE, Mozaffar T, Calvas P, Labauge P, Pages M, Wallace DC, Lambert JC, Paquis-Flucklinger V. Bannwarth S, et al. Among authors: labauge p. Mitochondrion. 2008 Mar;8(2):136-45. doi: 10.1016/j.mito.2007.10.008. Epub 2007 Nov 6. Mitochondrion. 2008. PMID: 18078792
Cognitive functions in neuromyelitis optica.
Blanc F, Zéphir H, Lebrun C, Labauge P, Castelnovo G, Fleury M, Sellal F, Tranchant C, Dujardin K, Vermersch P, de Seze J. Blanc F, et al. Among authors: labauge p. Arch Neurol. 2008 Jan;65(1):84-8. doi: 10.1001/archneurol.2007.16. Arch Neurol. 2008. PMID: 18195143
Composite cerebellar functional severity score: validation of a quantitative score of cerebellar impairment.
du Montcel ST, Charles P, Ribai P, Goizet C, Le Bayon A, Labauge P, Guyant-Maréchal L, Forlani S, Jauffret C, Vandenberghe N, N'guyen K, Le Ber I, Devos D, Vincitorio CM, Manto MU, Tison F, Hannequin D, Ruberg M, Brice A, Durr A. du Montcel ST, et al. Among authors: labauge p. Brain. 2008 May;131(Pt 5):1352-61. doi: 10.1093/brain/awn059. Epub 2008 Mar 31. Brain. 2008. PMID: 18378516
465 results