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326 results

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Page 1
Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.
Leen WG, Klepper J, Verbeek MM, Leferink M, Hofste T, van Engelen BG, Wevers RA, Arthur T, Bahi-Buisson N, Ballhausen D, Bekhof J, van Bogaert P, Carrilho I, Chabrol B, Champion MP, Coldwell J, Clayton P, Donner E, Evangeliou A, Ebinger F, Farrell K, Forsyth RJ, de Goede CG, Gross S, Grunewald S, Holthausen H, Jayawant S, Lachlan K, Laugel V, Leppig K, Lim MJ, Mancini G, Marina AD, Martorell L, McMenamin J, Meuwissen ME, Mundy H, Nilsson NO, Panzer A, Poll-The BT, Rauscher C, Rouselle CM, Sandvig I, Scheffner T, Sheridan E, Simpson N, Sykora P, Tomlinson R, Trounce J, Webb D, Weschke B, Scheffer H, Willemsen MA. Leen WG, et al. Among authors: lim mj. Brain. 2010 Mar;133(Pt 3):655-70. doi: 10.1093/brain/awp336. Epub 2010 Feb 2. Brain. 2010. PMID: 20129935
Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2.
Foley AR, Menezes MP, Pandraud A, Gonzalez MA, Al-Odaib A, Abrams AJ, Sugano K, Yonezawa A, Manzur AY, Burns J, Hughes I, McCullagh BG, Jungbluth H, Lim MJ, Lin JP, Megarbane A, Urtizberea JA, Shah AH, Antony J, Webster R, Broomfield A, Ng J, Mathew AA, O'Byrne JJ, Forman E, Scoto M, Prasad M, O'Brien K, Olpin S, Oppenheim M, Hargreaves I, Land JM, Wang MX, Carpenter K, Horvath R, Straub V, Lek M, Gold W, Farrell MO, Brandner S, Phadke R, Matsubara K, McGarvey ML, Scherer SS, Baxter PS, King MD, Clayton P, Rahman S, Reilly MM, Ouvrier RA, Christodoulou J, Züchner S, Muntoni F, Houlden H. Foley AR, et al. Among authors: lim mj. Brain. 2014 Jan;137(Pt 1):44-56. doi: 10.1093/brain/awt315. Epub 2013 Nov 19. Brain. 2014. PMID: 24253200 Free PMC article.
Autoantibody biomarkers in childhood-acquired demyelinating syndromes: results from a national surveillance cohort.
Hacohen Y, Absoud M, Woodhall M, Cummins C, De Goede CG, Hemingway C, Jardine PE, Kneen R, Pike MG, Whitehouse WP, Wassmer E, Waters P, Vincent A, Lim M; UK & Ireland Childhood CNS Inflammatory Demyelination Working Group. Hacohen Y, et al. J Neurol Neurosurg Psychiatry. 2014 Apr;85(4):456-61. doi: 10.1136/jnnp-2013-306411. Epub 2013 Oct 16. J Neurol Neurosurg Psychiatry. 2014. PMID: 24133290
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. Brain. 2014 Aug;137(Pt 8):2178-92. doi: 10.1093/brain/awu142. Epub 2014 Jun 20. Brain. 2014. PMID: 24951641 Free PMC article.
Acute idiopathic transverse myelitis in children: early predictors of relapse and disability.
Deiva K, Absoud M, Hemingway C, Hernandez Y, Hussson B, Maurey H, Niotakis G, Wassmer E, Lim M, Tardieu M; United Kingdom Childhood Inflammatory Demyelination (UK-CID) Study and French Kidbiosep Study. Deiva K, et al. Neurology. 2015 Jan 27;84(4):341-9. doi: 10.1212/WNL.0000000000001179. Epub 2014 Dec 24. Neurology. 2015. PMID: 25540303
Disease Course and Treatment Responses in Children With Relapsing Myelin Oligodendrocyte Glycoprotein Antibody-Associated Disease.
Hacohen Y, Wong YY, Lechner C, Jurynczyk M, Wright S, Konuskan B, Kalser J, Poulat AL, Maurey H, Ganelin-Cohen E, Wassmer E, Hemingway C, Forsyth R, Hennes EM, Leite MI, Ciccarelli O, Anlar B, Hintzen R, Marignier R, Palace J, Baumann M, Rostásy K, Neuteboom R, Deiva K, Lim M. Hacohen Y, et al. JAMA Neurol. 2018 Apr 1;75(4):478-487. doi: 10.1001/jamaneurol.2017.4601. JAMA Neurol. 2018. PMID: 29305608 Free PMC article.
The emerging spectrum of fetal acetylcholine receptor antibody-related disorders (FARAD).
Allen NM, O'Rahelly M, Eymard B, Chouchane M, Hahn A, Kearns G, Kim DS, Byun SY, Nguyen CE, Schara-Schmidt U, Kölbel H, Marina AD, Schneider-Gold C, Roefke K, Thieme A, Van den Bergh P, Avalos G, Álvarez-Velasco R, Natera-de Benito D, Cheng MHM, Chan WK, Wan HS, Thomas MA, Borch L, Lauzon J, Kornblum C, Reimann J, Mueller A, Kuntzer T, Norwood F, Ramdas S, Jacobson LW, Jie X, Fernandez-Garcia MA, Wraige E, Lim M, Lin JP, Claeys KG, Aktas S, Oskoui M, Hacohen Y, Masud A, Leite MI, Palace J, De Vivo D, Vincent A, Jungbluth H. Allen NM, et al. Brain. 2023 Oct 3;146(10):4233-4246. doi: 10.1093/brain/awad153. Brain. 2023. PMID: 37186601 Free PMC article.
Childhood presentation of COL4A1 mutations.
Shah S, Ellard S, Kneen R, Lim M, Osborne N, Rankin J, Stoodley N, van der Knaap M, Whitney A, Jardine P. Shah S, et al. Dev Med Child Neurol. 2012 Jun;54(6):569-74. doi: 10.1111/j.1469-8749.2011.04198.x. Epub 2012 Jan 16. Dev Med Child Neurol. 2012. PMID: 22574627 Free article. Review.
Use of Disease-Modifying Therapies in Pediatric Relapsing-Remitting Multiple Sclerosis in the United Kingdom.
Abdel-Mannan OA, Manchoon C, Rossor T, Southin JC, Tur C, Brownlee W, Byrne S, Chitre M, Coles A, Forsyth R, Kneen R, Mankad K, Ram D, West S, Wright S, Wassmer E, Lim M, Ciccarelli O, Hemingway C, Hacohen Y; UK-Childhood Inflammatory Disease Network. Abdel-Mannan OA, et al. Neurol Neuroimmunol Neuroinflamm. 2021 May 21;8(4):e1008. doi: 10.1212/NXI.0000000000001008. Print 2021 Jul. Neurol Neuroimmunol Neuroinflamm. 2021. PMID: 34021056 Free PMC article.
326 results