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Non-GAA Repeat Expansions in FGF14 Are Likely Not Pathogenic-Reply to: "Shaking Up Ataxia: FGF14 and RFC1 Repeat Expansions in Affected and Unaffected Members of a Chilean Family".
Pellerin D, Iruzubieta P, Tekgül Ş, Danzi MC, Ashton C, Dicaire MJ, Wandzel M, Roth V, Lamont PJ, Bonnet C, Renaud M, Synofzik M, Zuchner S, Brais B, Başak NA, Houlden H. Pellerin D, et al. Among authors: lamont pj. Mov Disord. 2023 Aug;38(8):1575-1577. doi: 10.1002/mds.29552. Mov Disord. 2023. PMID: 37565404 No abstract available.
Spinocerebellar ataxia 27B: episodic symptoms and acetazolamide response in 34 patients.
Ashton C, Indelicato E, Pellerin D, Clément G, Danzi MC, Dicaire MJ, Bonnet C, Houlden H, Züchner S, Synofzik M, Lamont PJ, Renaud M, Boesch S, Brais B. Ashton C, et al. Among authors: lamont pj. Brain Commun. 2023 Sep 10;5(5):fcad239. doi: 10.1093/braincomms/fcad239. eCollection 2023. Brain Commun. 2023. PMID: 37705681 Free PMC article.
RFC1 in an Australasian neurological disease cohort: extending the genetic heterogeneity and implications for diagnostics.
Scriba CK, Stevanovski I, Chintalaphani SR, Gamaarachchi H, Ghaoui R, Ghia D, Henderson RD, Jordan N, Winkel A, Lamont PJ, Rodrigues MJ, Roxburgh RH, Weisburd B, Laing NG, Deveson IW, Davis MR, Ravenscroft G. Scriba CK, et al. Among authors: lamont pj. Brain Commun. 2023 Jul 25;5(4):fcad208. doi: 10.1093/braincomms/fcad208. eCollection 2023. Brain Commun. 2023. PMID: 37621409 Free PMC article.
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: lamont pj. bioRxiv [Preprint]. 2023 Jun 30:2023.05.11.540430. doi: 10.1101/2023.05.11.540430. bioRxiv. 2023. PMID: 37425777 Free PMC article. Preprint.
Uncovering the significance of expanded CD8+ large granular lymphocytes in inclusion body myositis: Insights into T cell phenotype and functional alterations, and disease severity.
McLeish E, Sooda A, Slater N, Kachigunda B, Beer K, Paramalingam S, Lamont PJ, Chopra A, Mastaglia FL, Needham M, Coudert JD. McLeish E, et al. Among authors: lamont pj. Front Immunol. 2023 Mar 30;14:1153789. doi: 10.3389/fimmu.2023.1153789. eCollection 2023. Front Immunol. 2023. PMID: 37063893 Free PMC article.
A novel phenotype of AChR-deficiency syndrome with predominant facial and distal weakness resulting from the inclusion of an evolutionary alternatively-spliced exon in CHRNA1.
Rodríguez Cruz PM, Ravenscroft G, Natera D, Carr A, Manzur A, Liu WW, Vella NR, Jericó I, Gonzalez-Quereda L, Gallano P, Montalto SA, Davis MR, Lamont PJ, Laing NG, Bourque P, Nascimento A, Muntoni F, Polavarapu K, Lochmüller H, Palace J, Beeson D. Rodríguez Cruz PM, et al. Among authors: lamont pj. Neuromuscul Disord. 2023 Feb;33(2):161-168. doi: 10.1016/j.nmd.2022.12.011. Epub 2022 Dec 22. Neuromuscul Disord. 2023. PMID: 36634413
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia.
Pellerin D, Danzi MC, Wilke C, Renaud M, Fazal S, Dicaire MJ, Scriba CK, Ashton C, Yanick C, Beijer D, Rebelo A, Rocca C, Jaunmuktane Z, Sonnen JA, Larivière R, Genís D, Molina Porcel L, Choquet K, Sakalla R, Provost S, Robertson R, Allard-Chamard X, Tétreault M, Reiling SJ, Nagy S, Nishadham V, Purushottam M, Vengalil S, Bardhan M, Nalini A, Chen Z, Mathieu J, Massie R, Chalk CH, Lafontaine AL, Evoy F, Rioux MF, Ragoussis J, Boycott KM, Dubé MP, Duquette A, Houlden H, Ravenscroft G, Laing NG, Lamont PJ, Saporta MA, Schüle R, Schöls L, La Piana R, Synofzik M, Zuchner S, Brais B. Pellerin D, et al. Among authors: lamont pj. N Engl J Med. 2023 Jan 12;388(2):128-141. doi: 10.1056/NEJMoa2207406. Epub 2022 Dec 14. N Engl J Med. 2023. PMID: 36516086 Free PMC article.
Identification of a novel heterozygous DYSF variant in a large family with a dominantly-inherited dysferlinopathy.
Folland C, Johnsen R, Botero Gomez A, Trajanoski D, Davis MR, Moore U, Straub V, Barresi R, Guglieri M, Hayhurst H, Schaefer AM, Laing NG, Lamont PJ, Ravenscroft G. Folland C, et al. Among authors: lamont pj. Neuropathol Appl Neurobiol. 2022 Dec;48(7):e12846. doi: 10.1111/nan.12846. Epub 2022 Aug 20. Neuropathol Appl Neurobiol. 2022. PMID: 35962550
Genotype-phenotype correlations in valosin-containing protein disease: a retrospective muticentre study.
Schiava M, Ikenaga C, Villar-Quiles RN, Caballero-Ávila M, Topf A, Nishino I, Kimonis V, Udd B, Schoser B, Zanoteli E, Souza PVS, Tasca G, Lloyd T, Lopez-de Munain A, Paradas C, Pegoraro E, Nadaj-Pakleza A, De Bleecker J, Badrising U, Alonso-Jiménez A, Kostera-Pruszczyk A, Miralles F, Shin JH, Bevilacqua JA, Olivé M, Vorgerd M, Kley R, Brady S, Williams T, Domínguez-González C, Papadimas GK, Warman-Chardon J, Claeys KG, de Visser M, Muelas N, LaForet P, Malfatti E, Alfano LN, Nair SS, Manousakis G, Kushlaf HA, Harms MB, Nance C, Ramos-Fransi A, Rodolico C, Hewamadduma C, Cetin H, García-García J, Pál E, Farrugia ME, Lamont PJ, Quinn C, Nedkova-Hristova V, Peric S, Luo S, Oldfors A, Taylor K, Ralston S, Stojkovic T, Weihl C, Diaz-Manera J; VCP International Study Group; VCP International Study Group. Schiava M, et al. Among authors: lamont pj. J Neurol Neurosurg Psychiatry. 2022 Jul 27:jnnp-2022-328921. doi: 10.1136/jnnp-2022-328921. Online ahead of print. J Neurol Neurosurg Psychiatry. 2022. PMID: 35896379 Free PMC article.
54 results