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Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F, Stojkovic T. Fernández-Eulate G, et al. Neurol Genet. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37470033 Free PMC article.
The French Pompe registry. Baseline characteristics of a cohort of 126 patients with adult Pompe disease.
Laforêt P, Laloui K, Granger B, Hamroun D, Taouagh N, Hogrel JY, Orlikowski D, Bouhour F, Lacour A, Salort-Campana E, Penisson-Besnier I, Sacconi S, Zagnoli F, Chapon F, Eymard B, Desnuelle C, Pouget J; French Pompe Registry Study Group. Laforêt P, et al. Rev Neurol (Paris). 2013 Aug-Sep;169(8-9):595-602. doi: 10.1016/j.neurol.2013.07.002. Epub 2013 Sep 3. Rev Neurol (Paris). 2013. PMID: 24008051
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
Echaniz-Laguna A, Ghezzi D, Chassagne M, Mayençon M, Padet S, Melchionda L, Rouvet I, Lannes B, Bozon D, Latour P, Zeviani M, Mousson de Camaret B. Echaniz-Laguna A, et al. Neurology. 2013 Oct 22;81(17):1523-30. doi: 10.1212/WNL.0b013e3182a4a518. Epub 2013 Sep 11. Neurology. 2013. PMID: 24027061 Free PMC article.
Relevance of corpus callosum splenium versus middle cerebellar peduncle hyperintensity for FXTAS diagnosis in clinical practice.
Renaud M, Perriard J, Coudray S, Sévin-Allouet M, Marcel C, Meissner WG, Chanson JB, Collongues N, Philippi N, Gebus O, Quenardelle V, Castrioto A, Krack P, N'Guyen K, Lefebvre F, Echaniz-Laguna A, Azulay JP, Meyer N, Labauge P, Tranchant C, Anheim M. Renaud M, et al. J Neurol. 2015 Feb;262(2):435-42. doi: 10.1007/s00415-014-7557-7. Epub 2014 Dec 2. J Neurol. 2015. PMID: 25451852
220 results