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Page 1
Recessive Variants in PIGG Cause a Motor Neuropathy with Variable Conduction Block, Childhood Tremor, and Febrile Seizures: Expanding the Phenotype.
Record CJ, O'Connor A, Verbeek NE, van Rheenen W, Zamba Papanicolaou E, Peric S, Ligthart PC, Skorupinska M, van Binsbergen E, Campeau PM, Ivanovic V, Hennigan B, McHugh JC, Blake JC, Murakami Y, Laura M, Murphy SM, Reilly MM. Record CJ, et al. Among authors: skorupinska m. Ann Neurol. 2024 Oct 23. doi: 10.1002/ana.27113. Online ahead of print. Ann Neurol. 2024. PMID: 39444079
TRPV4 neuromuscular disease registry highlights bulbar, skeletal and proximal limb manifestations.
Kosmanopoulos G, Donohue JK, Hoke M, Thomas S, Peyton MA, Vo L, Crawford TO, Sadjadi R, Herrmann DN, Yum SW, Reilly MM, Scherer SS, Finkel RS, Lewis RA, Pareyson D, Pisciotta C, Walk D, Shy ME, Sumner CJ; Inherited Neuropathy Consortium; McCray BA. Kosmanopoulos G, et al. Brain. 2024 Jun 25:awae201. doi: 10.1093/brain/awae201. Online ahead of print. Brain. 2024. PMID: 38917025
Quantitative Foot Muscle Magnetic Resonance Imaging Reliably Measures Disease Progression in Children and Adolescents with Charcot-Marie-Tooth Disease Type 1A.
Doherty CM, Howard P, O'Donnell LF, Zuccarino R, Wastling S, Milev E, Banks T, Shah S, Zafeiropoulos N, Stephens KJ, Sarkozy A, Grider T, Feely SME, Manzur A, Shy RR, Skorupinska M, Pipis M, Nicolaisen E, McDowell A, Dilek N, Rossor AM, Laura M, Clark C, Muntoni F, Thedens D, Thornton J, Morrow JM, Shy ME, Reilly MM. Doherty CM, et al. Among authors: skorupinska m. Ann Neurol. 2024 Jul;96(1):170-174. doi: 10.1002/ana.26934. Epub 2024 Apr 13. Ann Neurol. 2024. PMID: 38613459
Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.
Doherty CM, Morrow JM, Zuccarino R, Howard P, Wastling S, Pipis M, Zafeiropoulos N, Stephens KJ, Grider T, Feely SME, Nopoulous P, Skorupinska M, Milev E, Nicolaisen E, Dudzeic M, McDowell A, Dilek N, Muntoni F, Rossor AM, Shah S, Laura M, Yousry TA, Thedens D, Thornton J, Shy ME, Reilly MM. Doherty CM, et al. Among authors: skorupinska m. Ann Clin Transl Neurol. 2024 Mar;11(3):607-617. doi: 10.1002/acn3.51979. Epub 2024 Jan 3. Ann Clin Transl Neurol. 2024. PMID: 38173284 Free PMC article.
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: skorupinska m. 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
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: skorupinska m. J Neurol Neurosurg Psychiatry. 2024 May 14;95(6):500-503. doi: 10.1136/jnnp-2023-332454. J Neurol Neurosurg Psychiatry. 2024. PMID: 37979968
41 results