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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.
Fernández-Eulate G, Fernández-Torrón R, Guisasola A, Gaspar MTI, Diaz-Manera J, Maneiro M, Zulaica M, Olasagasti V, Formica AF, Espinal JB, Ruiz M, Schlüter A, Pujol A, Poza JJ, López de Munain A. Fernández-Eulate G, et al. Eur J Neurol. 2020 Aug;27(8):1364-1373. doi: 10.1111/ene.14272. Epub 2020 May 24. Eur J Neurol. 2020. PMID: 32320108
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
Tuazon AMA, Lott P, Bohórquez M, Benavides J, Ramirez C, Criollo A, Estrada-Florez A, Mateus G, Velez A, Carmona J, Olaya J, Garcia E, Polanco-Echeverry G, Stultz J, Alvarez C, Tapia T, Ashton-Prolla P; Brazilian Familial Cancer Network; Vega A, Lazaro C, Tornero E, Martinez-Bouzas C, Infante M, De La Hoya M, Diez O, Browning BL; COLUMBUS Consortium; Rannala B, Teixeira MR, Carvallo P, Echeverry M, Carvajal-Carmona LG. Tuazon AMA, et al. Breast Cancer Res. 2020 Oct 21;22(1):108. doi: 10.1186/s13058-020-01341-3. Breast Cancer Res. 2020. PMID: 33087180 Free PMC article.
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.
Mutation spectrum and clinical investigation of achromatopsia patients with mutations in the GNAT2 gene.
Felden J, Baumann B, Ali M, Audo I, Ayuso C, Bocquet B, Casteels I, Garcia-Sandoval B, Jacobson SG, Jurklies B, Kellner U, Kessel L, Lorenz B, McKibbin M, Meunier I, de Ravel T, Rosenberg T, Rüther K, Vadala M, Wissinger B, Stingl K, Kohl S. Felden J, et al. Hum Mutat. 2019 Aug;40(8):1145-1155. doi: 10.1002/humu.23768. Epub 2019 May 6. Hum Mutat. 2019. PMID: 31058429