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Page 1
Role of the repeat expansion size in predicting age of onset and severity in RFC1 disease.
Currò R, Dominik N, Facchini S, Vegezzi E, Sullivan R, Galassi Deforie V, Fernández-Eulate G, Traschütz A, Rossi S, Garibaldi M, Kwarciany M, Taroni F, Brusco A, Good JM, Cavalcanti F, Hammans S, Ravenscroft G, Roxburgh RH; RFC1 repeat expansion study group; Parolin Schnekenberg R, Rugginini B, Abati E, Manini A, Quartesan I, Ghia A, Lòpez de Munaìn A, Manganelli F, Kennerson M, Santorelli FM, Infante J, Marques W, Jokela M, Murphy SM, Mandich P, Fabrizi GM, Briani C, Gosal D, Pareyson D, Ferrari A, Prados F, Yousry T, Khurana V, Kuo SH, Miller J, Troakes C, Jaunmuktane Z, Giunti P, Hartmann A, Basak N, Synofzik M, Stojkovic T, Hadjivassiliou M, Reilly MM, Houlden H, Cortese A. Currò R, et al. Among authors: gosal d. Brain. 2024 May 3;147(5):1887-1898. doi: 10.1093/brain/awad436. Brain. 2024. PMID: 38193360 Free PMC article.
Investigating genotype-phenotype relationship of extreme neuropathic pain disorders in a UK national cohort.
Themistocleous AC, Baskozos G, Blesneac I, Comini M, Megy K, Chong S, Deevi SVV, Ginsberg L, Gosal D, Hadden RDM, Horvath R, Mahdi-Rogers M, Manzur A, Mapeta R, Marshall A, Matthews E, McCarthy MI, Reilly MM, Renton T, Rice ASC, Vale TA, van Zuydam N, Walker SM, Woods CG, Bennett DLH. Themistocleous AC, et al. Among authors: gosal d. Brain Commun. 2023 Feb 20;5(2):fcad037. doi: 10.1093/braincomms/fcad037. eCollection 2023. Brain Commun. 2023. PMID: 36895957 Free PMC article.
Nitrous oxide-induced myeloneuropathy: a case series.
Mair D, Paris A, Zaloum SA, White LM, Dodd KC, Englezou C, Patel F, Abualnaja S, Lilleker JB, Gosal D, Hayton T, Liang D, Allroggen H, Pucci M, Keddie S, Noyce AJ. Mair D, et al. Among authors: gosal d. J Neurol Neurosurg Psychiatry. 2023 Sep;94(9):681-688. doi: 10.1136/jnnp-2023-331131. Epub 2023 May 30. J Neurol Neurosurg Psychiatry. 2023. PMID: 37253616 Free PMC article.
Prevalence of Raynaud's phenomenon in patients with peripheral neuropathy.
Shukla R, Liu C, Wilkinson S, Gosal D, Herrick AL. Shukla R, et al. Among authors: gosal d. J Scleroderma Relat Disord. 2023 Oct;8(3):253-254. doi: 10.1177/23971983231155945. Epub 2023 Feb 27. J Scleroderma Relat Disord. 2023. PMID: 37744041 No abstract available.
Truncating Variants in RFC1 in Cerebellar Ataxia, Neuropathy, and Vestibular Areflexia Syndrome.
Ronco R, Perini C, Currò R, Dominik N, Facchini S, Gennari A, Simone R, Stuart S, Nagy S, Vegezzi E, Quartesan I, El-Saddig A, Lavin T, Tucci A, Szymura A, Novis De Farias LE, Gary A, Delfeld M, Kandikatla P, Niu N, Tawde S, Shaw J, Polke J, Reilly MM, Wood NW, Crespan E, Gomez C, Chen JYH, Schmahmann JD, Gosal D, Houlden H, Das S, Cortese A. Ronco R, et al. Among authors: gosal d. Neurology. 2023 Jan 31;100(5):e543-e554. doi: 10.1212/WNL.0000000000201486. Epub 2022 Oct 26. Neurology. 2023. PMID: 36289003 Free PMC article.
GWAS meta-analysis of intrahepatic cholestasis of pregnancy implicates multiple hepatic genes and regulatory elements.
Dixon PH, Levine AP, Cebola I, Chan MMY, Amin AS, Aich A, Mozere M, Maude H, Mitchell AL, Zhang J; NIHR BioResource; Genomics England Research Consortium Collaborators; Chambers J, Syngelaki A, Donnelly J, Cooley S, Geary M, Nicolaides K, Thorsell M, Hague WM, Estiu MC, Marschall HU, Gale DP, Williamson C. Dixon PH, et al. Nat Commun. 2022 Aug 17;13(1):4840. doi: 10.1038/s41467-022-29931-z. Nat Commun. 2022. PMID: 35977952 Free PMC article.
Abdominal Tuberculosis Mimicking Ovarian Cancer: A Case Report and Review of the Literature.
Rinaldi I, Muthalib A, Gosal D, Wijayadi T, Sutedja B, Setiawan T, Gunawan A, Susanto N, Magdalena L, Handjari DR, Kurniawan F, Rifani A, Winston K. Rinaldi I, et al. Among authors: gosal d. Int Med Case Rep J. 2022 Apr 11;15:169-185. doi: 10.2147/IMCRJ.S348434. eCollection 2022. Int Med Case Rep J. 2022. PMID: 35431583 Free PMC article.
Corneal Confocal Microscopy to Image Small Nerve Fiber Degeneration: Ophthalmology Meets Neurology.
Petropoulos IN, Bitirgen G, Ferdousi M, Kalteniece A, Azmi S, D'Onofrio L, Lim SH, Ponirakis G, Khan A, Gad H, Mohammed I, Mohammadi YE, Malik A, Gosal D, Kobylecki C, Silverdale M, Soran H, Alam U, Malik RA. Petropoulos IN, et al. Among authors: gosal d. Front Pain Res (Lausanne). 2021 Aug 19;2:725363. doi: 10.3389/fpain.2021.725363. eCollection 2021. Front Pain Res (Lausanne). 2021. PMID: 35295436 Free PMC article. Review.
46 results