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Expanding the Phenotypic Variability of PMPCA-Related Ataxia.
Mov Disord Clin Pract. 2024 May 2. doi: 10.1002/mdc3.14057. Online ahead of print.
Mov Disord Clin Pract. 2024.
PMID: 38696267
No abstract available.
Expanding the Phenotypic Spectrum of Alazami Syndrome: Two Unrelated Spanish Families.
Soengas-Gonda E, Pérez de la Fuente R, Arteche-López A, Gómez-Cano MLÁ, Quesada-Espinosa JF, Palma Milla C, Lezana Rosales JM, Mayo de Andrés S, Sánchez-Calvín MT, Gómez-Rodríguez MJ, Sierra Tomillo O, Juarez Rufian A, Ramos Gomez P, Herrero-Forte C, Fenollar-Cortés M, Cotarelo-Pérez C, García Ron A, Pérez Rodríguez O, Oancea-Ionescu R, Moreno-García M.
Soengas-Gonda E, et al. Among authors: herrero forte c.
Neuropediatrics. 2023 Feb;54(1):31-36. doi: 10.1055/a-1947-8411. Epub 2022 Sep 20.
Neuropediatrics. 2023.
PMID: 36126956
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The Genetic Landscape of Mitochondrial Diseases in Spain: A Nationwide Call.
Bellusci M, Paredes-Fuentes AJ, Ruiz-Pesini E, Gómez B; MITOSPAIN Working Group; Martín MA, Montoya J, Artuch R.
Bellusci M, et al.
Genes (Basel). 2021 Oct 9;12(10):1590. doi: 10.3390/genes12101590.
Genes (Basel). 2021.
PMID: 34680984
Free PMC article.
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