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.