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145 results

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Page 1
Efficacy and safety of cyclic pyranopterin monophosphate substitution in severe molybdenum cofactor deficiency type A: a prospective cohort study.
Schwahn BC, Van Spronsen FJ, Belaidi AA, Bowhay S, Christodoulou J, Derks TG, Hennermann JB, Jameson E, König K, McGregor TL, Font-Montgomery E, Santamaria-Araujo JA, Santra S, Vaidya M, Vierzig A, Wassmer E, Weis I, Wong FY, Veldman A, Schwarz G. Schwahn BC, et al. Among authors: wassmer e. Lancet. 2015 Nov 14;386(10007):1955-1963. doi: 10.1016/S0140-6736(15)00124-5. Epub 2015 Sep 3. Lancet. 2015. PMID: 26343839
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study.
Kurian MA, Li Y, Zhen J, Meyer E, Hai N, Christen HJ, Hoffmann GF, Jardine P, von Moers A, Mordekar SR, O'Callaghan F, Wassmer E, Wraige E, Dietrich C, Lewis T, Hyland K, Heales S Jr, Sanger T, Gissen P, Assmann BE, Reith ME, Maher ER. Kurian MA, et al. Among authors: wassmer e. Lancet Neurol. 2011 Jan;10(1):54-62. doi: 10.1016/S1474-4422(10)70269-6. Epub 2010 Nov 25. Lancet Neurol. 2011. PMID: 21112253 Free PMC article.
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ, Ng YS, Blain A, Jiminez-Moreno C, Alston CL, Nesbitt V, Simmons L, Santra S, Wassmer E, Blakely EL, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Lim AZ, et al. Among authors: wassmer e. Ann Neurol. 2022 Jan;91(1):117-130. doi: 10.1002/ana.26260. Epub 2021 Nov 12. Ann Neurol. 2022. PMID: 34716721 Free PMC article.
Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases.
Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Maas RR, et al. Among authors: wassmer e. Ann Neurol. 2017 Dec;82(6):1004-1015. doi: 10.1002/ana.25110. Ann Neurol. 2017. PMID: 29205472 Free PMC article.
Utility and safety of plasma exchange in paediatric neuroimmune disorders.
Eyre M, Hacohen Y, Lamb K, Absoud M, Agrawal S, Gadian J, Gupta R, Kneen R, Milford DV, Philip S, Rose K, Smith M, Spinty S, Wassmer E, Lim M, Hemingway C. Eyre M, et al. Among authors: wassmer e. Dev Med Child Neurol. 2019 May;61(5):540-546. doi: 10.1111/dmcn.14150. Epub 2019 Jan 18. Dev Med Child Neurol. 2019. PMID: 30659589 Free article.
Bi-allelic Loss-of-Function CACNA1B Mutations in Progressive Epilepsy-Dyskinesia.
Gorman KM, Meyer E, Grozeva D, Spinelli E, McTague A, Sanchis-Juan A, Carss KJ, Bryant E, Reich A, Schneider AL, Pressler RM, Simpson MA, Debelle GD, Wassmer E, Morton J, Sieciechowicz D, Jan-Kamsteeg E, Paciorkowski AR, King MD, Cross JH, Poduri A, Mefford HC, Scheffer IE, Haack TB, McCullagh G; Deciphering Developmental Disorders Study; UK10K Consortium; NIHR BioResource; Millichap JJ, Carvill GL, Clayton-Smith J, Maher ER, Raymond FL, Kurian MA. Gorman KM, et al. Among authors: wassmer e. Am J Hum Genet. 2019 May 2;104(5):948-956. doi: 10.1016/j.ajhg.2019.03.005. Epub 2019 Apr 11. Am J Hum Genet. 2019. PMID: 30982612 Free PMC article.
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: wassmer e. 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.
145 results