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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia.
Morsy H, Benkirane M, Cali E, Rocca C, Zhelcheska K, Cipriani V, Galanaki E, Maroofian R, Efthymiou S, Murphy D, O'Driscoll M, Suri M, Banka S, Clayton-Smith J, Wright T, Redman M, Bassetti JA, Nizon M, Cogne B, Jamra RA, Bartolomaeus T, Heruth M, Krey I, Gburek-Augustat J, Wieczorek D, Gattermann F, Mcentagart M, Goldenberg A, Guyant-Marechal L, Garcia-Moreno H, Giunti P, Chabrol B, Bacrot S, Buissonnière R, Magry V, Gowda VK, Srinivasan VM, Melegh B, Szabó A, Sümegi K, Cossée M, Ziff M, Butterfield R, Hunt D, Bird-Lieberman G, Hanna M, Koenig M, Stankewich M, Vandrovcova J, Houlden H; Genomics England Research Consortium. Morsy H, et al. Genet Med. 2023 Jan;25(1):76-89. doi: 10.1016/j.gim.2022.09.013. Epub 2022 Nov 4. Genet Med. 2023. PMID: 36331550 Free PMC article.
Plasma Markers of Neurodegeneration Are Raised in Friedreich's Ataxia.
Zeitlberger AM, Thomas-Black G, Garcia-Moreno H, Foiani M, Heslegrave AJ, Zetterberg H, Giunti P. Zeitlberger AM, et al. Front Cell Neurosci. 2018 Oct 30;12:366. doi: 10.3389/fncel.2018.00366. eCollection 2018. Front Cell Neurosci. 2018. PMID: 30425621 Free PMC article.
Lower urinary tract and bowel dysfunction in spinocerebellar ataxias.
Afonso Ribeiro J, Simeoni S, De Min L, Uchiyama T, Tung Lo Y, Solanky N, Garcia-Moreno H, Giunti P, Panicker JN. Afonso Ribeiro J, et al. Ann Clin Transl Neurol. 2021 Feb;8(2):321-331. doi: 10.1002/acn3.51266. Epub 2020 Dec 18. Ann Clin Transl Neurol. 2021. PMID: 33338328 Free PMC article.
45 results