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Year Number of Results
2002 1
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2005 4
2007 1
2010 2
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2017 1
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Page 1
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.
Aberrant regulation of epigenetic modifiers contributes to the pathogenesis in patients with selenoprotein N-related myopathies.
Bachmann C, Noreen F, Voermans NC, Schär PL, Vissing J, Fock JM, Bulk S, Kusters B, Moore SA, Beggs AH, Mathews KD, Meyer M, Genetti CA, Meola G, Cardani R, Mathews E, Jungbluth H, Muntoni F, Zorzato F, Treves S. Bachmann C, et al. Among authors: fock jm. Hum Mutat. 2019 Jul;40(7):962-974. doi: 10.1002/humu.23745. Epub 2019 Apr 1. Hum Mutat. 2019. PMID: 30932294 Free PMC article.
Prevalence of Bladder and Bowel Dysfunction in Duchenne Muscular Dystrophy Using the Childhood Bladder and Bowel Dysfunction Questionnaire.
Lionarons JM, de Groot IJM, Fock JM, Klinkenberg S, Vrijens DMJ, Vreugdenhil ACE, Medici-van den Herik EG, Cuppen I, Jaeger B, Niks EH, Hoogerhuis R, Platte-van Attekum N, Feron FJM, Faber CG, Hendriksen JGM, Vles JSH. Lionarons JM, et al. Among authors: fock jm. Life (Basel). 2021 Jul 30;11(8):772. doi: 10.3390/life11080772. Life (Basel). 2021. PMID: 34440515 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.
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.
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