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MYTHO is a novel regulator of skeletal muscle autophagy and integrity.
Leduc-Gaudet JP, Franco-Romero A, Cefis M, Moamer A, Broering FE, Milan G, Sartori R, Chaffer TJ, Dulac M, Marcangeli V, Mayaki D, Huck L, Shams A, Morais JA, Duchesne E, Lochmuller H, Sandri M, Hussain SNA, Gouspillou G. Leduc-Gaudet JP, et al. Among authors: lochmuller h. Nat Commun. 2023 Mar 2;14(1):1199. doi: 10.1038/s41467-023-36817-1. Nat Commun. 2023. PMID: 36864049 Free PMC article.
Biallelic NAA60 variants with impaired n-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications.
Chelban V, Aksnes H, Maroofian R, LaMonica LC, Seabra L, Siggervåg A, Devic P, Shamseldin HE, Vandrovcova J, Murphy D, Richard AC, Quenez O, Bonnevalle A, Zanetti MN, Kaiyrzhanov R, Salpietro V, Efthymiou S, Schottlaender LV, Morsy H, Scardamaglia A, Tariq A, Pagnamenta AT, Pennavaria A, Krogstad LS, Bekkelund ÅK, Caiella A, Glomnes N, Brønstad KM, Tury S, Moreno De Luca A, Boland-Auge A, Olaso R, Deleuze JF, Anheim M, Cretin B, Vona B, Alajlan F, Abdulwahab F, Battini JL, İpek R, Bauer P, Zifarelli G, Gungor S, Kurul SH, Lochmuller H, Da'as SI, Fakhro KA, Gómez-Pascual A, Botía JA, Wood NW, Horvath R, Ernst AM, Rothman JE, McEntagart M, Crow YJ, Alkuraya FS, Nicolas G; SYNaPS Study Group; Arnesen T, Houlden H. Chelban V, et al. Among authors: lochmuller h. Nat Commun. 2024 Mar 13;15(1):2269. doi: 10.1038/s41467-024-46354-0. Nat Commun. 2024. PMID: 38480682 Free PMC article.
Biomarkers in Duchenne and Becker muscular dystrophies.
McMillan HJ, Lochmüller H. McMillan HJ, et al. Among authors: lochmuller h. Muscle Nerve. 2021 Jul;64(1):4-5. doi: 10.1002/mus.27342. Epub 2021 Jun 4. Muscle Nerve. 2021. PMID: 34076279 No abstract available.
Loss of supervillin causes myopathy with myofibrillar disorganization and autophagic vacuoles.
Hedberg-Oldfors C, Meyer R, Nolte K, Abdul Rahim Y, Lindberg C, Karason K, Thuestad IJ, Visuttijai K, Geijer M, Begemann M, Kraft F, Lausberg E, Hitpass L, Götzl R, Luna EJ, Lochmüller H, Koschmieder S, Gramlich M, Gess B, Elbracht M, Weis J, Kurth I, Oldfors A, Knopp C. Hedberg-Oldfors C, et al. Among authors: lochmuller h. Brain. 2020 Aug 1;143(8):2406-2420. doi: 10.1093/brain/awaa206. Brain. 2020. PMID: 32779703 Free PMC article.
The Canadian Neuromuscular Disease Registry 2010-2019: A Decade of Facilitating Clinical Research Througha Nationwide, Pan-NeuromuscularDisease Registry.
Hodgkinson V, Lounsberry J, M'Dahoma S, Russell A, Jewett G, Benstead T, Brais B, Campbell C, Johnston W, Lochmüller H, McCormick A, Nguyen CT, O'Ferrall E, Oskoui M, Abrahao A, Briemberg H, Bourque PR, Botez S, Cashman N, Chapman K, Chrestian N, Crone M, Dobrowolski P, Dojeiji S, Dowling JJ, Dupré N, Genge A, Gonorazky H, Grant I, Hasal S, Izenberg A, Kalra S, Katzberg H, Krieger C, Leung E, Linassi G, Mackenzie A, Mah JK, Marrero A, Massie R, Matte G, McAdam L, McMillan H, Melanson M, Mezei MM, O'Connell C, Pfeffer G, Phan C, Plamondon S, Poulin C, Rodrigue X, Schellenberg K, Selby K, Sheriko J, Shoesmith C, Smith RG, Taillon M, Taylor S, Venance S, Warman-Chardon J, Worley S, Zinman L, Korngut L. Hodgkinson V, et al. Among authors: lochmuller h. J Neuromuscul Dis. 2021;8(1):53-61. doi: 10.3233/JND-200538. J Neuromuscul Dis. 2021. PMID: 32925088 Free PMC article.
Burden of Spinal Muscular Atrophy (SMA) on Patients and Caregivers in Canada.
McMillan HJ, Gerber B, Cowling T, Khuu W, Mayer M, Wu JW, Maturi B, Klein-Panneton K, Cabalteja C, Lochmüller H. McMillan HJ, et al. Among authors: lochmuller h. J Neuromuscul Dis. 2021;8(4):553-568. doi: 10.3233/JND-200610. J Neuromuscul Dis. 2021. PMID: 33749617 Free PMC article.
Rare disease research workflow using multilayer networks elucidates the molecular determinants of severity in Congenital Myasthenic Syndromes.
Núñez-Carpintero I, Rigau M, Bosio M, O'Connor E, Spendiff S, Azuma Y, Topf A, Thompson R, 't Hoen PAC, Chamova T, Tournev I, Guergueltcheva V, Laurie S, Beltran S, Capella-Gutiérrez S, Cirillo D, Lochmüller H, Valencia A. Núñez-Carpintero I, et al. Among authors: lochmuller h. Nat Commun. 2024 Feb 28;15(1):1227. doi: 10.1038/s41467-024-45099-0. Nat Commun. 2024. PMID: 38418480 Free PMC article.
671 results