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Page 1
Endocrine and Growth Abnormalities in 4H Leukodystrophy Caused by Variants in POLR3A, POLR3B, and POLR1C.
Pelletier F, Perrier S, Cayami FK, Mirchi A, Saikali S, Tran LT, Ulrick N, Guerrero K, Rampakakis E, van Spaendonk RML, Naidu S, Pohl D, Gibson WT, Demos M, Goizet C, Tejera-Martin I, Potic A, Fogel BL, Brais B, Sylvain M, Sébire G, Lourenço CM, Bonkowsky JL, Catsman-Berrevoets C, Pinto PS, Tirupathi S, Strømme P, de Grauw T, Gieruszczak-Bialek D, Krägeloh-Mann I, Mierzewska H, Philippi H, Rankin J, Atik T, Banwell B, Benko WS, Blaschek A, Bley A, Boltshauser E, Bratkovic D, Brozova K, Cimas I, Clough C, Corenblum B, Dinopoulos A, Dolan G, Faletra F, Fernandez R, Fletcher J, Garcia Garcia ME, Gasparini P, Gburek-Augustat J, Gonzalez Moron D, Hamati A, Harting I, Hertzberg C, Hill A, Hobson GM, Innes AM, Kauffman M, Kirwin SM, Kluger G, Kolditz P, Kotzaeridou U, La Piana R, Liston E, McClintock W, McEntagart M, McKenzie F, Melançon S, Misbahuddin A, Suri M, Monton FI, Moutton S, Murphy RPJ, Nickel M, Onay H, Orcesi S, Özkınay F, Patzer S, Pedro H, Pekic S, Pineda Marfa M, Pizzino A, Plecko B, Poll-The BT, Popovic V, Rating D, Rioux MF, Rodriguez Espinosa N, Ronan A, Ostergaard JR, Rossignol E, Sanchez-Carpintero R, Schossig A, Senbil N, Sønderberg Roos LK, Stevens CA, Synofz… See abstract for full author list ➔ Pelletier F, et al. Among authors: misbahuddin a. J Clin Endocrinol Metab. 2021 Jan 23;106(2):e660-e674. doi: 10.1210/clinem/dgaa700. J Clin Endocrinol Metab. 2021. PMID: 33005949 Free PMC article.
Natural History of Vanishing White Matter.
Hamilton EMC, van der Lei HDW, Vermeulen G, Gerver JAM, Lourenço CM, Naidu S, Mierzewska H, Gemke RJBJ, de Vet HCW, Uitdehaag BMJ, Lissenberg-Witte BI; VWM Research Group; van der Knaap MS. Hamilton EMC, et al. Ann Neurol. 2018 Aug;84(2):274-288. doi: 10.1002/ana.25287. Epub 2018 Sep 6. Ann Neurol. 2018. PMID: 30014503 Free PMC article.
Tracking Parkinson's: Study Design and Baseline Patient Data.
Malek N, Swallow DM, Grosset KA, Lawton MA, Marrinan SL, Lehn AC, Bresner C, Bajaj N, Barker RA, Ben-Shlomo Y, Burn DJ, Foltynie T, Hardy J, Morris HR, Williams NM, Wood N, Grosset DG; PRoBaND. Malek N, et al. J Parkinsons Dis. 2015;5(4):947-59. doi: 10.3233/JPD-150662. J Parkinsons Dis. 2015. PMID: 26485428 Free PMC article.
Toscana virus encephalitis following a holiday in Sicily.
Osborne JC, Khatamzas E, Misbahuddin A, Hart R, Sivaramakrishnan A, Breen DP. Osborne JC, et al. Among authors: misbahuddin a. Pract Neurol. 2016 Apr;16(2):139-41. doi: 10.1136/practneurol-2015-001265. Epub 2015 Dec 8. Pract Neurol. 2016. PMID: 26647398
Systematic review and UK-based study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease.
Kilarski LL, Pearson JP, Newsway V, Majounie E, Knipe MD, Misbahuddin A, Chinnery PF, Burn DJ, Clarke CE, Marion MH, Lewthwaite AJ, Nicholl DJ, Wood NW, Morrison KE, Williams-Gray CH, Evans JR, Sawcer SJ, Barker RA, Wickremaratchi MM, Ben-Shlomo Y, Williams NM, Morris HR. Kilarski LL, et al. Among authors: misbahuddin a. Mov Disord. 2012 Oct;27(12):1522-9. doi: 10.1002/mds.25132. Epub 2012 Sep 6. Mov Disord. 2012. PMID: 22956510 Review.
Long-term effectiveness of dopamine agonists and monoamine oxidase B inhibitors compared with levodopa as initial treatment for Parkinson's disease (PD MED): a large, open-label, pragmatic randomised trial.
PD Med Collaborative Group; Gray R, Ives N, Rick C, Patel S, Gray A, Jenkinson C, McIntosh E, Wheatley K, Williams A, Clarke CE. PD Med Collaborative Group, et al. Lancet. 2014 Sep 27;384(9949):1196-205. doi: 10.1016/S0140-6736(14)60683-8. Epub 2014 Jun 11. Lancet. 2014. PMID: 24928805 Clinical Trial.
37 results