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431 results

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Page 1
Neuroradiological findings in GAA-FGF14 ataxia (SCA27B): more than cerebellar atrophy.
Chen S, Ashton C, Sakalla R, Clement G, Planel S, Bonnet C, Lamont P, Kulanthaivelu K, Nalini A, Houlden H, Duquette A, Dicaire MJ, Agudo PI, Martinez JR, de Lucas EM, Berjon RS, Ceberio JI, Indelicato E, Boesch S, Synofzik M, Bender B, Danzi MC, Zuchner S, Pellerin D, Brais B, Renaud M, La Piana R. Chen S, et al. Among authors: zuchner s. medRxiv [Preprint]. 2024 May 16:2024.02.16.24302945. doi: 10.1101/2024.02.16.24302945. medRxiv. 2024. PMID: 38405699 Free PMC article. Preprint.
A common flanking variant is associated with enhanced meiotic stability of the FGF14 -SCA27B locus.
Pellerin D, Gobbo GD, Couse M, Dolzhenko E, Dicaire MJ, Rebelo A, Roth V, Wandzel M, Bonnet C, Ashton C, Lamont PJ, Laing NG, Renaud M, Ravenscroft G, Houlden H, Synofzik M, Eberle MA, Boycott KM, Pastinen T; All of Us Long Reads Working Group; Brais B, Zuchner S, Danzi MC. Pellerin D, et al. Among authors: zuchner s. bioRxiv [Preprint]. 2023 Jun 30:2023.05.11.540430. doi: 10.1101/2023.05.11.540430. bioRxiv. 2023. Update in: Nat Genet. 2024 Jul;56(7):1366-1370. doi: 10.1038/s41588-024-01808-5 PMID: 37425777 Free PMC article. Updated. Preprint.
Intronic FGF14 GAA repeat expansions are a common cause of downbeat nystagmus syndromes: frequency, phenotypic profile, and 4-aminopyridine treatment response.
Pellerin D, Heindl F, Wilke C, Danzi MC, Traschütz A, Ashton C, Dicaire MJ, Cuillerier A, Del Gobbo G, Boycott KM, Claassen J, Rujescu D, Hartmann AM, Zuchner S, Brais B, Strupp M, Synofzik M. Pellerin D, et al. Among authors: zuchner s. medRxiv [Preprint]. 2023 Aug 5:2023.07.30.23293380. doi: 10.1101/2023.07.30.23293380. medRxiv. 2023. Update in: EBioMedicine. 2024 Apr;102:105076. doi: 10.1016/j.ebiom.2024.105076 PMID: 37577458 Free PMC article. Updated. Preprint.
Somatic instability of the FGF14 -SCA27B GAA•TTC repeat reveals a marked expansion bias in the cerebellum.
Pellerin D, Méreaux JL, Boluda S, Danzi MC, Dicaire MJ, Davoine CS, Genis D, Spurdens G, Ashton C, Hammond JM, Gerhart BJ, Chelban V, Le PU, Safisamghabadi M, Yanick C, Lee H, Nageshwaran SK, Matos-Rodrigues G, Jaunmuktane Z, Petrecca K, Akbarian S, Nussenzweig A, Usdin K, Renaud M, Bonnet C, Ravenscroft G, Saporta MA, Napierala JS, Houlden H, Deveson IW, Napierala M, Brice A, Molina Porcel L, Seilhean D, Zuchner S, Durr A, Brais B. Pellerin D, et al. Among authors: zuchner s. medRxiv [Preprint]. 2024 Jul 3:2024.07.01.24309777. doi: 10.1101/2024.07.01.24309777. medRxiv. 2024. Update in: Brain. 2024 Oct 08:awae312. doi: 10.1093/brain/awae312 PMID: 39006414 Free PMC article. Updated. Preprint.
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.
Biallelic variants in COX18 cause a mitochondrial disorder primarily manifesting as peripheral neuropathy.
Armirola-Ricaurte C, Morant L, Adant I, Hamed SA, Pipis M, Efthymiou S, Amor-Barris S, Atkinson D, Van de Vondel L, Tomic A, de Vriendt E, Zuchner S, Ghesquiere B, Hanna M, Houlden H, Lunn MP, Reilly MM, Rasic VM, Jordanova A. Armirola-Ricaurte C, et al. Among authors: zuchner s. medRxiv [Preprint]. 2024 Jul 4:2024.07.03.24309787. doi: 10.1101/2024.07.03.24309787. medRxiv. 2024. PMID: 39006432 Free PMC article. Preprint.
Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features.
De Winter J, Van de Vondel L, Ermanoska B, Monticelli A, Isapof A, Cohen E, Stojkovic T, Hackman P, Johari M, Palmio J, Waldrop MA, Meyer AP, Nicolau S, Flanigan KM, Töpf A, Diaz-Manera J, Straub V, Longman C, McWilliam CA, Orbach R, Verma S, Laine R, Donkervoort S, Bonnemann CG, Rebelo A, Züchner S, Grider T, Shy ME, Maystadt I, Demurger F, Cairns A, Beecroft S, Folland C, De Ridder W, Ravenscroft G, Bonne G, Udd B, Baets J. De Winter J, et al. Among authors: zuchner s. medRxiv [Preprint]. 2024 Sep 24:2024.09.23.24313872. doi: 10.1101/2024.09.23.24313872. medRxiv. 2024. PMID: 39371122 Free PMC article. Preprint.
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
431 results