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Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy.
Fernández-Eulate G, Theuriet J, Record CJ, Querin G, Masingue M, Leonard-Louis S, Behin A, Le Forestier N, Pegat A, Michaud M, Chanson JB, Nadaj-Pakleza A, Tard C, Bedat-Millet AL, Sole G, Spinazzi M, Salort-Campana E, Echaniz-Laguna A, Poinsignon V, Latour P, Reilly MM, Bouhour F, Stojkovic T. Fernández-Eulate G, et al. Among authors: record cj. Neurol Genet. 2023 Jul 17;9(4):e200087. doi: 10.1212/NXG.0000000000200087. eCollection 2023 Aug. Neurol Genet. 2023. PMID: 37470033 Free PMC article.
Unusual upper limb features in SORD neuropathy.
Record CJ, Pipis M, Blake J, Curro R, Lunn MP, Rossor AM, Laura M, Cortese A, Reilly MM. Record CJ, et al. J Peripher Nerv Syst. 2022 Jun;27(2):175-177. doi: 10.1111/jns.12492. Epub 2022 Apr 13. J Peripher Nerv Syst. 2022. PMID: 35419909 No abstract available.
Quantitative MRI outcome measures in CMT1A using automated lower limb muscle segmentation.
O'Donnell LF, Pipis M, Thornton JS, Kanber B, Wastling S, McDowell A, Zafeiropoulos N, Laura M, Skorupinska M, Record CJ, Doherty CM, Herrmann DN, Zetterberg H, Heslegrave AJ, Laban R, Rossor AM, Morrow JM, Reilly MM. O'Donnell LF, et al. Among authors: record cj. J Neurol Neurosurg Psychiatry. 2024 May 14;95(6):500-503. doi: 10.1136/jnnp-2023-332454. J Neurol Neurosurg Psychiatry. 2024. PMID: 37979968
Digenic FLNA and UCHL1 variants resulting in a complex phenotype.
Pernice HF, O'Donnell LF, Rossor AM, Laura M, Record CJ, Skorupinska M, Blake J, Poh R, Polke J, Reilly MM. Pernice HF, et al. Among authors: record cj. J Peripher Nerv Syst. 2024 Mar;29(1):111-115. doi: 10.1111/jns.12611. Epub 2024 Jan 7. J Peripher Nerv Syst. 2024. PMID: 38131667
24 results