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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
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.
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.
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.
Postural control during reaching in preterm children with cerebral palsy.
van der Heide JC, Begeer C, Fock JM, Otten B, Stremmelaar E, van Eykern LA, Hadders-Algra M. van der Heide JC, et al. Among authors: fock jm. Dev Med Child Neurol. 2004 Apr;46(4):253-66. doi: 10.1017/s0012162204000416. Dev Med Child Neurol. 2004. PMID: 15077703 Free article.
39 results