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1990 1
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Page 1
Pathogenic variants in three families with distal muscle involvement.
Weterman MAJ, Bronk M, Jongejan A, Hoogendijk JE, Krudde J, Karjosukarso D, Goebel HH, Aronica E, Jöbsis GJ, van Ruissen F, van Spaendonck-Zwarts KY, de Visser M, Baas F. Weterman MAJ, et al. Among authors: jobsis gj. Neuromuscul Disord. 2023 Jan;33(1):58-64. doi: 10.1016/j.nmd.2022.11.007. Epub 2022 Nov 29. Neuromuscul Disord. 2023. PMID: 36539320 Free article.
Genetic localization of Bethlem myopathy.
Jobsis GJ, Bolhuis PA, Boers JM, Baas F, Wolterman RA, Hensels GW, de Visser M. Jobsis GJ, et al. Neurology. 1996 Mar;46(3):779-82. doi: 10.1212/wnl.46.3.779. Neurology. 1996. PMID: 8618682
Machado-Joseph disease presenting as severe asymmetric proximal neuropathy.
van Schaik IN, Jöbsis GJ, Vermeulen M, Keizers H, Bolhuis PA, de Visser M. van Schaik IN, et al. Among authors: jobsis gj. J Neurol Neurosurg Psychiatry. 1997 Oct;63(4):534-6. doi: 10.1136/jnnp.63.4.534. J Neurol Neurosurg Psychiatry. 1997. PMID: 9343141 Free PMC article.
Evidence for locus heterogeneity in the Bethlem myopathy and linkage to 2q37.
Speer MC, Tandan R, Rao PN, Fries T, Stajich JM, Bolhuis PA, Jöbsis GJ, Vance JM, Viles KD, Sheffield K, James C, Kahler SG, Pettenati M, Gilbert JR, Denton PH, Yamaoka LH, Pericak-Vance MA. Speer MC, et al. Among authors: jobsis gj. Hum Mol Genet. 1996 Jul;5(7):1043-6. doi: 10.1093/hmg/5.7.1043. Hum Mol Genet. 1996. PMID: 8817344
16 results