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431 results

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Page 1
Oculomotor findings in spinocerebellar ataxia 27B: a case series.
Clément G, Puisieux S, Ashton C, Pellerin D, Danzi MC, Bonnet C, Roth V, Wandzel M, Hocquel A, Pourié C, Dreumont N, Lambert L, Houlden H, Zuchner S, Brais B, Ben Rejeb I, Frismand S, Renaud M. Clément G, et al. Among authors: zuchner s. Can J Neurol Sci. 2024 Dec 9:1-6. doi: 10.1017/cjn.2024.355. Online ahead of print. Can J Neurol Sci. 2024. PMID: 39648743 No abstract available.
KIF21A-associated peripheral neuropathy defined by impaired binding with TUBB3.
Borja NA, Zafeer MF, Bivona S, Peart L, Gultekin SH; Undiagnosed Diseases Network; Bademci G, Tekin M; Undiagnosed Diseases Network NIH. Borja NA, et al. J Med Genet. 2024 Dec 11:jmg-2024-109908. doi: 10.1136/jmg-2024-109908. Online ahead of print. J Med Genet. 2024. PMID: 39643435
Telehealth Is Effective in the Evaluation of Individuals With Undiagnosed Rare Disorders: An Undiagnosed Diseases Network Study.
Tan QK, McConkie-Rosell A, Mahoney R, Spillmann RC, Schoch K, Chanprasert S, Acosta MT, Toro C, Rosenfeld JA, Orengo JP, Scott DA, Granadillo JL, Sisco K, Wegner DJ, Tekin M, Bivona S, Peart L, Rodan L, Bonner D, Wheeler MT, Bernstein JA, Ruzhnikov M; Undiagnosed Diseases Network; Adams DR, Hisama FM, Shashi V. Tan QK, et al. Am J Med Genet A. 2024 Dec 4:e63956. doi: 10.1002/ajmg.a.63956. Online ahead of print. Am J Med Genet A. 2024. PMID: 39629753
Assessment of the Clinical Interactions of GAA Repeat Expansions in FGF14 and FXN.
Gerhart BJ, Pellerin D, Danzi MC, Zuchner S, Brais B, Matos-Rodrigues G, Nussenzweig A, Usdin K, Park CC, Napierala JS, Lynch DR, Napierala M. Gerhart BJ, et al. Among authors: zuchner s. Neurol Genet. 2024 Nov 20;10(6):e200210. doi: 10.1212/NXG.0000000000200210. eCollection 2024 Dec. Neurol Genet. 2024. PMID: 39574782 Free PMC article.
Screening for SCA27B, CANVAS and other repeat expansion disorders in Greek patients with late-onset cerebellar ataxia suggests a need to update current diagnostic algorithms.
Koutsis G, Kartanou C, Kontogeorgiou Z, Koniari C, Mitrousias A, Pellerin D, Dicaire MJ, Iruzubieta P, Danzi MC, Athanassopoulos K, Ragazos N, Stamelou M, Rentzos M, Anagnostou E, Zuchner S, Brais B, Houlden H, Panas M, Stefanis L, Karadima G. Koutsis G, et al. Among authors: zuchner s. J Neurol Sci. 2024 Dec 15;467:123309. doi: 10.1016/j.jns.2024.123309. Epub 2024 Nov 15. J Neurol Sci. 2024. PMID: 39571249
Correction to: Spinocerebellar ataxia 27B: a frequent and slowly progressive autosomal-dominant cerebellar ataxia-experience from an Italian cohort.
Satolli S, Rossi S, Vegezzi E, Pellerin D, Manca ML, Barghigiani M, Battisti C, Bilancieri G, Bruno G, Capacci E, Casali C, Ceravolo R, Cocozza S, Cotti Piccinelli S, Criscuolo C, Danzi MC, De Micco R, De Michele G, Dicaire MJ, Falcone GMI, Fancellu R, Ferchichi Y, Ferrari C, Filla A, Fini N, Govoni A, Lo Vecchio F, Malandrini A, Mignarri A, Musumeci O, Nesti C, Pappatà S, Pellecchia MT, Perna A, Petrucci A, Pomponi MG, Ravenni R, Ricca I, Rufa A, Tabolacci E, Tessa A, Tessitore A, Zuchner S, Silvestri G, Cortese A, Brais B, Santorelli FM. Satolli S, et al. Among authors: zuchner s. J Neurol. 2024 Dec;271(12):7650-7651. doi: 10.1007/s00415-024-12629-1. J Neurol. 2024. PMID: 39499281 No abstract available.
Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry.
Cortese A, Beecroft SJ, Facchini S, Curro R, Cabrera-Serrano M, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Weisburd B, Folland C, Monahan G, Scriba CK, Dofash L, Johari M, Grosz BR, Ellis M, Fearnley LG, Tankard R, Read J, Merve A, Dominik N, Vegezzi E, Schnekenberg RP, Fernandez-Eulate G, Masingue M, Giovannini D, Delatycki MB, Storey E, Gardner M, Amor DJ, Nicholson G, Vucic S, Henderson RD, Robertson T, Dyke J, Fabian V, Mastaglia F, Davis MR, Kennerson M; OPDM study group; Quinlivan R, Hammans S, Tucci A, Bahlo M, McLean CA, Laing NG, Stojkovic T, Houlden H, Hanna MG, Deveson IW, Lockhart PJ, Lamont PJ, Fahey MC, Bugiardini E, Ravenscroft G. Cortese A, et al. Nat Commun. 2024 Oct 17;15(1):8955. doi: 10.1038/s41467-024-53151-2. Nat Commun. 2024. PMID: 39419991 Free PMC article. No abstract available.
Advancing Equity in Rare Disease Research: Insights From the Undiagnosed Disease Network.
Borja NA, Tinker RJ, Bivona SA, Smith CA, Locker TK, Fernandes S; Undiagnosed Diseases Network; Phillips JA 3rd, Stoler J, Taylor H, Zuchner S, Tekin M. Borja NA, et al. Among authors: zuchner s. Am J Med Genet A. 2024 Oct 14:e63904. doi: 10.1002/ajmg.a.63904. Online ahead of print. Am J Med Genet A. 2024. PMID: 39400494
431 results