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48 results

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Page 1
Heterozygous PNPT1 Variants Cause a Sensory Ataxic Neuropathy.
Haddad S, Record CJ, Self E, Skorupinska M, Rossor AM, Laura M, Ingle G, Manzur A, Muntoni F, Blake JC, Reilly MM. Haddad S, et al. Among authors: blake jc. Eur J Neurol. 2025 Feb;32(2):e70064. doi: 10.1111/ene.70064. Eur J Neurol. 2025. PMID: 39924761 Free PMC article.
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: blake jc. Ann Neurol. 2025 Feb;97(2):388-396. doi: 10.1002/ana.27113. Epub 2024 Oct 23. Ann Neurol. 2025. PMID: 39444079 Free PMC article.
Multi-omic Evaluations Nominate an ER-Mitochondrial Axis and Inflammatory Macrophage as Drivers of Right Atrial Dysfunction.
Mendelson JB, Sternbach JD, Blake JC, Kim M, Moon RA, Raveendran RM, Hartweck LM, Tollison W, Lahiri M, Carney JP, Markowski T, Higgins L, Lewandowski CT, Kazmirczak F, Choudhary G, Prins KW. Mendelson JB, et al. Among authors: blake jc. bioRxiv [Preprint]. 2025 Mar 25:2025.03.22.644722. doi: 10.1101/2025.03.22.644722. bioRxiv. 2025. PMID: 40196578 Free PMC article. Preprint.
SIGMAR1 mutation associated with autosomal recessive Silver-like syndrome.
Horga A, Tomaselli PJ, Gonzalez MA, Laurà M, Muntoni F, Manzur AY, Hanna MG, Blake JC, Houlden H, Züchner S, Reilly MM. Horga A, et al. Among authors: blake jc. Neurology. 2016 Oct 11;87(15):1607-1612. doi: 10.1212/WNL.0000000000003212. Epub 2016 Sep 14. Neurology. 2016. PMID: 27629094 Free PMC article. Review.
Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.
Horga A, Laurà M, Jaunmuktane Z, Jerath NU, Gonzalez MA, Polke JM, Poh R, Blake JC, Liu YT, Wiethoff S, Bettencourt C, Lunn MP, Manji H, Hanna MG, Houlden H, Brandner S, Züchner S, Shy M, Reilly MM. Horga A, et al. Among authors: blake jc. J Neurol Neurosurg Psychiatry. 2017 Jul;88(7):575-585. doi: 10.1136/jnnp-2016-315077. Epub 2017 May 13. J Neurol Neurosurg Psychiatry. 2017. PMID: 28501821 Free PMC article.
IGHMBP2 mutation associated with organ-specific autonomic dysfunction.
Tomaselli PJ, Horga A, Rossor AM, Jaunmuktane Z, Cortese A, Blake JC, Zarate-Lopez N, Houlden H, Reilly MM. Tomaselli PJ, et al. Among authors: blake jc. Neuromuscul Disord. 2018 Dec;28(12):1012-1015. doi: 10.1016/j.nmd.2018.08.010. Epub 2018 Aug 29. Neuromuscul Disord. 2018. PMID: 30385095 Free PMC article.
Genetic and phenotypic characterisation of inherited myopathies in a tertiary neuromuscular centre.
Bugiardini E, Khan AM, Phadke R, Lynch DS, Cortese A, Feng L, Gang Q, Pittman AM, Morrow JM, Turner C, Carr AS, Quinlivan R, Rossor AM, Holton JL, Parton M, Blake JC, Reilly MM, Houlden H, Matthews E, Hanna MG. Bugiardini E, et al. Among authors: blake jc. Neuromuscul Disord. 2019 Oct;29(10):747-757. doi: 10.1016/j.nmd.2019.08.003. Epub 2019 Aug 19. Neuromuscul Disord. 2019. PMID: 31561939
48 results