McHugh J - Search Results

1

Genotype/phenotype correlations in AARS-related neuropathy in a cohort of patients from the United Kingdom and Ireland.

Bansagi B, Antoniadi T, Burton-Jones S, Murphy SM, McHugh J, Alexander M, Wells R, Davies J, Hilton-Jones D, Lochmüller H, Chinnery P, Horvath R. Bansagi B, et al. Among authors: mchugh j. J Neurol. 2015 Aug;262(8):1899-908. doi: 10.1007/s00415-015-7778-4. Epub 2015 Jun 2. J Neurol. 2015. PMID: 26032230 Free PMC article.

2

Transcriptional regulator PRDM12 is essential for human pain perception.

Chen YC, Auer-Grumbach M, Matsukawa S, Zitzelsberger M, Themistocleous AC, Strom TM, Samara C, Moore AW, Cho LT, Young GT, Weiss C, Schabhüttl M, Stucka R, Schmid AB, Parman Y, Graul-Neumann L, Heinritz W, Passarge E, Watson RM, Hertz JM, Moog U, Baumgartner M, Valente EM, Pereira D, Restrepo CM, Katona I, Dusl M, Stendel C, Wieland T, Stafford F, Reimann F, von Au K, Finke C, Willems PJ, Nahorski MS, Shaikh SS, Carvalho OP, Nicholas AK, Karbani G, McAleer MA, Cilio MR, McHugh JC, Murphy SM, Irvine AD, Jensen UB, Windhager R, Weis J, Bergmann C, Rautenstrauss B, Baets J, De Jonghe P, Reilly MM, Kropatsch R, Kurth I, Chrast R, Michiue T, Bennett DL, Woods CG, Senderek J. Chen YC, et al. Among authors: mchugh jc. Nat Genet. 2015 Jul;47(7):803-8. doi: 10.1038/ng.3308. Epub 2015 May 25. Nat Genet. 2015. PMID: 26005867 Free PMC article.

3

Congenital myasthenic syndrome due to DPAGT1 mutations mimicking congenital myopathy in an Irish family.

Bogdanova-Mihaylova P, Murphy RPJ, Alexander MD, McHugh JC, Foley AR, Brett F, Murphy SM. Bogdanova-Mihaylova P, et al. Among authors: mchugh jc. Eur J Neurol. 2018 Feb;25(2):e22-e23. doi: 10.1111/ene.13532. Eur J Neurol. 2018. PMID: 29356258 No abstract available.

4

Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.

Bogdanova-Mihaylova P, Chen H, Plapp HM, Gorman C, Alexander MD, McHugh JC, Moran S, Early A, Cassidy L, Lynch T, Murphy SM, Walsh RA. Bogdanova-Mihaylova P, et al. J Neurol. 2021 Oct;268(10):3897-3907. doi: 10.1007/s00415-021-10507-8. Epub 2021 Mar 27. J Neurol. 2021. PMID: 33774748

5

Correction to: Neurophysiological and ophthalmological findings of SPG7-related spastic ataxia: a phenotype study in an Irish cohort.

Bogdanova-Mihaylova P, Chen H, Plapp HM, Gorman C, Alexander MD, McHugh JC, Moran S, Early A, Cassidy L, Lynch T, Murphy SM, Walsh RA. Bogdanova-Mihaylova P, et al. J Neurol. 2021 Oct;268(10):3908. doi: 10.1007/s00415-021-10593-8. J Neurol. 2021. PMID: 34014344 No abstract available.

6

Late-onset Tay-Sachs disease presenting with a neuromuscular phenotype-a case series.

Fullam S, Togher Z, Power A, Kennelly L, McHugh JC, O'Dowd S, Tubridy N, Hardiman O, Costigan D, Ryan A, Lefter S, Connolly S, Murphy SM. Fullam S, et al. Eur J Neurol. 2024 Jan;31(1):e16069. doi: 10.1111/ene.16069. Epub 2023 Sep 27. Eur J Neurol. 2024. PMID: 37754769 Free PMC article.

7

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: mchugh jc. Ann Neurol. 2024 Oct 23. doi: 10.1002/ana.27113. Online ahead of print. Ann Neurol. 2024. PMID: 39444079

8

Variant Creutzfeldt-Jakob disease: first two indigenous cases in Republic of Ireland. Case report and perspective.

McHugh JC, Bradley D, Hutchinson M, Brett F, Heffernan J, Howley R, Farrell M, Tubridy N. McHugh JC, et al. Eur J Neurol. 2007 Apr;14(4):467-9. doi: 10.1111/j.1468-1331.2007.01643.x. Eur J Neurol. 2007. PMID: 17389001

9

Retrospective comparison of the original and revised McDonald criteria in a general neurology practice in Ireland.

McHugh JC, Galvin PL, Murphy RP. McHugh JC, et al. Mult Scler. 2008 Jan;14(1):81-5. doi: 10.1177/1352458507081169. Epub 2007 Oct 17. Mult Scler. 2008. PMID: 17942523

10

Analysis of routine EEG usage in a general adult ICU.

McHugh JC, Downey T, Murphy RP, Connolly S. McHugh JC, et al. Ir J Med Sci. 2009 Sep;178(3):263-6. doi: 10.1007/s11845-009-0317-5. Epub 2009 Mar 19. Ir J Med Sci. 2009. PMID: 19296145

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