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Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study.
Eur J Neurol. 2020 Aug;27(8):1364-1373. doi: 10.1111/ene.14272. Epub 2020 May 24.
Eur J Neurol. 2020.
PMID: 32320108
A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases.
Verdura E, Schlüter A, Fernández-Eulate G, Ramos-Martín R, Zulaica M, Planas-Serra L, Ruiz M, Fourcade S, Casasnovas C, López de Munain A, Pujol A.
Verdura E, et al.
Ann Clin Transl Neurol. 2020 Jan;7(1):105-111. doi: 10.1002/acn3.50967. Epub 2019 Dec 18.
Ann Clin Transl Neurol. 2020.
PMID: 31854126
Free PMC article.
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