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Glycine receptor antibodies in PERM and related syndromes: characteristics, clinical features and outcomes.
Carvajal-González A, Leite MI, Waters P, Woodhall M, Coutinho E, Balint B, Lang B, Pettingill P, Carr A, Sheerin UM, Press R, Press R, Lunn MP, Lim M, Maddison P, Meinck HM, Vandenberghe W, Vincent A. Carvajal-González A, et al. Among authors: carr a. Brain. 2014 Aug;137(Pt 8):2178-92. doi: 10.1093/brain/awu142. Epub 2014 Jun 20. Brain. 2014. PMID: 24951641 Free PMC article.
Reply: Guillain-Barré syndrome, SARS-CoV-2 and molecular mimicry and Ongoing challenges in unravelling the association between COVID-19 and Guillain-Barré syndrome and Unclear association between COVID-19 and Guillain-Barré syndrome and Currently available data regarding the potential association between COVID-19 and Guillain-Barré syndrome.
Lunn MP, Carr AC, Keddie S, Pakpoor J, Pipis M, Willison HJ. Lunn MP, et al. Brain. 2021 Jun 22;144(5):e47. doi: 10.1093/brain/awab070. Brain. 2021. PMID: 33822006 Free PMC article. No abstract available.
RFC1 expansions are a common cause of idiopathic sensory neuropathy.
Currò R, Salvalaggio A, Tozza S, Gemelli C, Dominik N, Galassi Deforie V, Magrinelli F, Castellani F, Vegezzi E, Businaro P, Callegari I, Pichiecchio A, Cosentino G, Alfonsi E, Marchioni E, Colnaghi S, Gana S, Valente EM, Tassorelli C, Efthymiou S, Facchini S, Carr A, Laura M, Rossor AM, Manji H, Lunn MP, Pegoraro E, Santoro L, Grandis M, Bellone E, Beauchamp NJ, Hadjivassiliou M, Kaski D, Bronstein AM, Houlden H, Reilly MM, Mandich P, Schenone A, Manganelli F, Briani C, Cortese A. Currò R, et al. Among authors: carr a. Brain. 2021 Jun 22;144(5):1542-1550. doi: 10.1093/brain/awab072. Brain. 2021. PMID: 33969391 Free PMC article.
Mutations in noncoding regions of GJB1 are a major cause of X-linked CMT.
Tomaselli PJ, Rossor AM, Horga A, Jaunmuktane Z, Carr A, Saveri P, Piscosquito G, Pareyson D, Laura M, Blake JC, Poh R, Polke J, Houlden H, Reilly MM. Tomaselli PJ, et al. Among authors: carr a. Neurology. 2017 Apr 11;88(15):1445-1453. doi: 10.1212/WNL.0000000000003819. Epub 2017 Mar 10. Neurology. 2017. PMID: 28283593 Free PMC article.
Diagnostic delay in a case of T-cell neurolymphomatosis.
Li V, Jaunmuktane Z, Cwynarski K, Carr A. Li V, et al. Among authors: carr a. BMJ Case Rep. 2019 Dec 29;12(12):e232538. doi: 10.1136/bcr-2019-232538. BMJ Case Rep. 2019. PMID: 31888900 Free PMC article.
Bi-allelic JAM2 Variants Lead to Early-Onset Recessive Primary Familial Brain Calcification.
Schottlaender LV, Abeti R, Jaunmuktane Z, Macmillan C, Chelban V, O'Callaghan B, McKinley J, Maroofian R, Efthymiou S, Athanasiou-Fragkouli A, Forbes R, Soutar MPM, Livingston JH, Kalmar B, Swayne O, Hotton G; SYNAPS Study Group; Pittman A, Mendes de Oliveira JR, de Grandis M, Richard-Loendt A, Launchbury F, Althonayan J, McDonnell G, Carr A, Khan S, Beetz C, Bisgin A, Tug Bozdogan S, Begtrup A, Torti E, Greensmith L, Giunti P, Morrison PJ, Brandner S, Aurrand-Lions M, Houlden H. Schottlaender LV, et al. Among authors: carr a. Am J Hum Genet. 2020 Mar 5;106(3):412-421. doi: 10.1016/j.ajhg.2020.02.007. Am J Hum Genet. 2020. PMID: 32142645 Free PMC article.
2,534 results