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781 results

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KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Cif L, Demailly D, Lin JP, Barwick KE, Sa M, Abela L, Malhotra S, Chong WK, Steel D, Sanchis-Juan A, Ngoh A, Trump N, Meyer E, Vasques X, Rankin J, Allain MW, Applegate CD, Attaripour Isfahani S, Baleine J, Balint B, Bassetti JA, Baple EL, Bhatia KP, Blanchet C, Burglen L, Cambonie G, Seng EC, Bastaraud SC, Cyprien F, Coubes C, d'Hardemare V; Deciphering Developmental Disorders Study; Doja A, Dorison N, Doummar D, Dy-Hollins ME, Farrelly E, Fitzpatrick DR, Fearon C, Fieg EL, Fogel BL, Forman EB, Fox RG; Genomics England Research Consortium; Gahl WA, Galosi S, Gonzalez V, Graves TD, Gregory A, Hallett M, Hasegawa H, Hayflick SJ, Hamosh A, Hully M, Jansen S, Jeong SY, Krier JB, Krystal S, Kumar KR, Laurencin C, Lee H, Lesca G, François LL, Lynch T, Mahant N, Martinez-Agosto JA, Milesi C, Mills KA, Mondain M, Morales-Briceno H; NIHR BioResource; Ostergaard JR, Pal S, Pallais JC, Pavillard F, Perrigault PF, Petersen AK, Polo G, Poulen G, Rinne T, Roujeau T, Rogers C, Roubertie A, Sahagian M, Schaefer E, Selim L, Selway R, Sharma N, Signer R, Soldatos AG, Stevenson DA, Stewart F, Tchan M; Undiagnosed Diseases Network; Verma IC, de Vries BBA, Wilson JL, Wong DA, Zaitoun R, Zhen D… See abstract for full author list ➔ Cif L, et al. Among authors: sa m. Brain. 2020 Dec 5;143(11):3242-3261. doi: 10.1093/brain/awaa304. Brain. 2020. PMID: 33150406 Free PMC article.
Systemic Inflammation Is Associated With Neurologic Involvement in Pediatric Inflammatory Multisystem Syndrome Associated With SARS-CoV-2.
Sa M, Mirza L, Carter M, Carlton Jones L, Gowda V, Handforth J, Hedderly T, Kenny J, Lascelles K, Lin JP, Lumsden D, McDougall M, Miller O, Rossor T, Shivamurthy V, Siddiqui A, Singh R, Tang S, White M, Byrne S, Lim M; Evelina PIMS-TS Study Group. Sa M, et al. Neurol Neuroimmunol Neuroinflamm. 2021 Apr 13;8(4):e999. doi: 10.1212/NXI.0000000000000999. Print 2021 Jul. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 33850037 Free PMC article.
Long-term Natural History of Pediatric Dominant and Recessive RYR1-Related Myopathy.
Sarkozy A, Sa M, Ridout D, Fernandez-Garcia MA, Distefano MG, Main M, Sheehan J, Manzur AY, Munot P, Robb S, Wraige E, Quinlivan R, Scoto M, Baranello G, Gowda V, Mein R, Phadke R, Jungbluth H, Muntoni F. Sarkozy A, et al. Among authors: sa m. Neurology. 2023 Oct 10;101(15):e1495-e1508. doi: 10.1212/WNL.0000000000207723. Epub 2023 Aug 29. Neurology. 2023. PMID: 37643885
Do Early Relapses Predict the Risk of Long-Term Relapsing Disease in an Adult and Paediatric Cohort with MOGAD?
Chen B, Gomez-Figueroa E, Redenbaugh V, Francis A, Satukijchai C, Wu Y, Messina S, Sa M, Woodhall M, Paul F, Robertson NP, Lim M, Wassmer E, Kneen R, Huda S, Blain C, Halfpenny C, Hemingway C, O'Sullivan E, Hobart J, Fisniku LK, Martin RJ, Dobson R, Cooper SA, Williams V, Waters P, Chen JJ, Pittock SJ, Ramdas S, Leite MI, Flanagan EP, Geraldes R, Palace J. Chen B, et al. Among authors: sa m. Ann Neurol. 2023 Sep;94(3):508-517. doi: 10.1002/ana.26731. Epub 2023 Jul 12. Ann Neurol. 2023. PMID: 37394961
Safety and efficacy of tamoxifen in boys with Duchenne muscular dystrophy (TAMDMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial.
Henzi BC, Schmidt S, Nagy S, Rubino-Nacht D, Schaedelin S, Putananickal N, Stimpson G; North Star Consortium; Amthor H, Childs AM, Deconinck N, de Groot I, Horrocks I, Houwen-van Opstal S, Laugel V, Lopez Lobato M, Madruga Garrido M, Nascimento Osorio A, Schara-Schmidt U, Spinty S, von Moers A, Lawrence F, Hafner P, Dorchies OM, Fischer D. Henzi BC, et al. Lancet Neurol. 2023 Oct;22(10):890-899. doi: 10.1016/S1474-4422(23)00285-5. Lancet Neurol. 2023. PMID: 37739572 Clinical Trial.
Neurological manifestations of SARS-CoV-2 infection in hospitalised children and adolescents in the UK: a prospective national cohort study.
Ray STJ, Abdel-Mannan O, Sa M, Fuller C, Wood GK, Pysden K, Yoong M, McCullagh H, Scott D, McMahon M, Thomas N, Taylor M, Illingworth M, McCrea N, Davies V, Whitehouse W, Zuberi S, Guthrie K, Wassmer E, Shah N, Baker MR, Tiwary S, Tan HJ, Varma U, Ram D, Avula S, Enright N, Hassell J, Ross Russell AL, Kumar R, Mulholland RE, Pett S, Galea I, Thomas RH, Lim M, Hacohen Y, Solomon T, Griffiths MJ, Michael BD, Kneen R; CoroNerve study group. Ray STJ, et al. Among authors: sa m. Lancet Child Adolesc Health. 2021 Sep;5(9):631-641. doi: 10.1016/S2352-4642(21)00193-0. Epub 2021 Jul 15. Lancet Child Adolesc Health. 2021. PMID: 34273304 Free PMC article.
Factors Associated With Relapse and Treatment of Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease in the United Kingdom.
Satukijchai C, Mariano R, Messina S, Sa M, Woodhall MR, Robertson NP, Ming L, Wassmer E, Kneen R, Huda S, Jacob A, Blain C, Halfpenny C, Hemingway C, O'Sullivan E, Hobart J, Fisniku LK, Martin R, Dopson R, Cooper SA, Williams V, Waters PJ, Ramdas S, Leite MI, Palace J. Satukijchai C, et al. Among authors: sa m. JAMA Netw Open. 2022 Jan 4;5(1):e2142780. doi: 10.1001/jamanetworkopen.2021.42780. JAMA Netw Open. 2022. PMID: 35006246 Free PMC article.
781 results