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Page 1
De novo variants in EMC1 lead to neurodevelopmental delay and cerebellar degeneration and affect glial function in Drosophila.
Chung HL, Rump P, Lu D, Glassford MR, Mok JW, Fatih J, Basal A, Marcogliese PC, Kanca O, Rapp M, Fock JM, Kamsteeg EJ, Lupski JR, Larson A, Haninbal MC, Bellen H, Harel T. Chung HL, et al. Among authors: fock jm. Hum Mol Genet. 2022 Sep 29;31(19):3231-3244. doi: 10.1093/hmg/ddac053. Hum Mol Genet. 2022. PMID: 35234901 Free PMC article.
Variants in SLC18A3, vesicular acetylcholine transporter, cause congenital myasthenic syndrome.
O'Grady GL, Verschuuren C, Yuen M, Webster R, Menezes M, Fock JM, Pride N, Best HA, Benavides Damm T, Turner C, Lek M, Engel AG, North KN, Clarke NF, MacArthur DG, Kamsteeg EJ, Cooper ST. O'Grady GL, et al. Among authors: fock jm. Neurology. 2016 Oct 4;87(14):1442-1448. doi: 10.1212/WNL.0000000000003179. Epub 2016 Sep 2. Neurology. 2016. PMID: 27590285 Free PMC article.
Mutations in RARS cause hypomyelination.
Wolf NI, Salomons GS, Rodenburg RJ, Pouwels PJ, Schieving JH, Derks TG, Fock JM, Rump P, van Beek DM, van der Knaap MS, Waisfisz Q. Wolf NI, et al. Among authors: fock jm. Ann Neurol. 2014 Jul;76(1):134-9. doi: 10.1002/ana.24167. Epub 2014 May 16. Ann Neurol. 2014. PMID: 24777941
Benign neonatal sleep myoclonus: a case with a spinal generator?
Fokke C, Fock JM, Brouwer OF, Elting JW. Fokke C, et al. Among authors: fock jm. Neurology. 2011 Sep 27;77(13):1308-9. doi: 10.1212/WNL.0b013e31823020ad. Epub 2011 Sep 14. Neurology. 2011. PMID: 21917778 No abstract available.
Forty-Five Years of Duchenne Muscular Dystrophy in The Netherlands.
van den Bergen JC, Ginjaar HB, van Essen AJ, Pangalila R, de Groot IJ, Wijkstra PJ, Zijnen MP, Cobben NA, Kampelmacher MJ, Wokke BH, de Coo IF, Fock JM, Horemans AM, van Tol M, Vroom E, Rijlaarsdam ME, Straathof CS, Niks EH, Verschuuren JJ. van den Bergen JC, et al. Among authors: fock jm. J Neuromuscul Dis. 2014;1(1):99-109. J Neuromuscul Dis. 2014. PMID: 27858664
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.
Mild axonal neuropathy of children during treatment for acute lymphoblastic leukaemia.
Reinders-Messelink HA, Van Weerden TW, Fock JM, Gidding CE, Vingerhoets HM, Schoemaker MM, Göeken LN, Bökkerink JP, Kamps WA. Reinders-Messelink HA, et al. Among authors: fock jm. Eur J Paediatr Neurol. 2000;4(5):225-33. doi: 10.1053/ejpn.1999.0310. Eur J Paediatr Neurol. 2000. PMID: 11030069 Clinical Trial.
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