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Emerging and established biomarkers of oculopharyngeal muscular dystrophy.
Smith IC, Chakraborty S, Bourque PR, Sampaio ML, Melkus G, Lochmüller H, Woulfe J, Parks RJ, Brais B, Warman-Chardon J. Smith IC, et al. Among authors: warman chardon j. Neuromuscul Disord. 2023 Nov;33(11):824-834. doi: 10.1016/j.nmd.2023.09.010. Epub 2023 Oct 6. Neuromuscul Disord. 2023. PMID: 37926637 Review.
Case Report: Severe Peripartum Cardiac Disease in Myotonic Dystrophy Type 1.
Besant G, Bourque PR, Smith IC, Chih S, Lamacie MM, Breiner A, Zwicker J, Lochmüller H, Warman-Chardon J. Besant G, et al. Front Cardiovasc Med. 2022 Jun 3;9:899606. doi: 10.3389/fcvm.2022.899606. eCollection 2022. Front Cardiovasc Med. 2022. PMID: 35722118 Free PMC article.
Novel Homozygous Variant in COQ7 in Siblings With Hereditary Motor Neuropathy.
Smith IC, Pileggi CA, Wang Y, Kernohan K, Hartley T, McMillan HJ, Sampaio ML, Melkus G, Woulfe J, Parmar G, Bourque PR, Breiner A, Zwicker J, Pringle CE, Jarinova O, Lochmüller H, Dyment DA, Brais B, Boycott KM; Care4Rare Canada Consortium,; Hekimi S, Harper ME, Warman-Chardon J. Smith IC, et al. Among authors: warman chardon j. Neurol Genet. 2023 Jan 25;9(1):e200048. doi: 10.1212/NXG.0000000000200048. eCollection 2023 Feb. Neurol Genet. 2023. PMID: 37077559 Free PMC article.
Myofibrillar Myopathy Mimicking Polyneuropathy.
Bourque PR, Breiner A, Warman-Chardon J. Bourque PR, et al. Case Rep Neurol. 2020 Mar 3;12(1):97-102. doi: 10.1159/000506193. eCollection 2020 Jan-Apr. Case Rep Neurol. 2020. PMID: 32647524 Free PMC article.
76 results