Bolhuis PA - Search Results

1

Type VI collagen mutations in Bethlem myopathy, an autosomal dominant myopathy with contractures.

Jöbsis GJ, Keizers H, Vreijling JP, de Visser M, Speer MC, Wolterman RA, Baas F, Bolhuis PA. Jöbsis GJ, et al. Among authors: bolhuis pa. Nat Genet. 1996 Sep;14(1):113-5. doi: 10.1038/ng0996-113. Nat Genet. 1996. PMID: 8782832

2

Identical point mutations of PMP-22 in Trembler-J mouse and Charcot-Marie-Tooth disease type 1A.

Valentijn LJ, Baas F, Wolterman RA, Hoogendijk JE, van den Bosch NH, Zorn I, Gabreëls-Festen AW, de Visser M, Bolhuis PA. Valentijn LJ, et al. Among authors: bolhuis pa. Nat Genet. 1992 Dec;2(4):288-91. doi: 10.1038/ng1292-288. Nat Genet. 1992. PMID: 1303281

3

Deletion of the serine 34 codon from the major peripheral myelin protein P0 gene in Charcot-Marie-Tooth disease type 1B.

Kulkens T, Bolhuis PA, Wolterman RA, Kemp S, te Nijenhuis S, Valentijn LJ, Hensels GW, Jennekens FG, de Visser M, Hoogendijk JE, et al. Kulkens T, et al. Among authors: bolhuis pa. Nat Genet. 1993 Sep;5(1):35-9. doi: 10.1038/ng0993-35. Nat Genet. 1993. PMID: 7693130

4

Genetic localization of Bethlem myopathy.

Jobsis GJ, Bolhuis PA, Boers JM, Baas F, Wolterman RA, Hensels GW, de Visser M. Jobsis GJ, et al. Among authors: bolhuis pa. Neurology. 1996 Mar;46(3):779-82. doi: 10.1212/wnl.46.3.779. Neurology. 1996. PMID: 8618682

5

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: bolhuis pa. Hum Mol Genet. 1996 Jul;5(7):1043-6. doi: 10.1093/hmg/5.7.1043. Hum Mol Genet. 1996. PMID: 8817344

6

Genetic localization of a newly recognized autosomal dominant limb-girdle muscular dystrophy with cardiac involvement (LGMD1B) to chromosome 1q11-21.

van der Kooi AJ, van Meegen M, Ledderhof TM, McNally EM, de Visser M, Bolhuis PA. van der Kooi AJ, et al. Among authors: bolhuis pa. Am J Hum Genet. 1997 Apr;60(4):891-5. Am J Hum Genet. 1997. PMID: 9106535 Free PMC article.

7

Distribution and characterization of a Sandhoff disease-associated 50-kb deletion in the gene encoding the human beta-hexosaminidase beta-chain.

Bikker H, van den Berg FM, Wolterman RA, Kleijer WJ, de Vijlder JJ, Bolhuis PA. Bikker H, et al. Among authors: bolhuis pa. Hum Genet. 1990 Aug;85(3):327-9. doi: 10.1007/BF00206756. Hum Genet. 1990. PMID: 1975561

8

Mapping of the locus for X-linked cardioskeletal myopathy with neutropenia and abnormal mitochondria (Barth syndrome) to Xq28.

Bolhuis PA, Hensels GW, Hulsebos TJ, Baas F, Barth PG. Bolhuis PA, et al. Am J Hum Genet. 1991 Mar;48(3):481-5. Am J Hum Genet. 1991. PMID: 1998334 Free PMC article.

9

An unusual variant of Becker muscular dystrophy.

de Visser M, Bakker E, Defesche JC, Bolhuis PA, van Ommen GJ. de Visser M, et al. Among authors: bolhuis pa. Ann Neurol. 1990 May;27(5):578-81. doi: 10.1002/ana.410270521. Ann Neurol. 1990. PMID: 2193611

10

Genetic linkage of hereditary motor and sensory neuropathy type I (Charcot-Marie-Tooth disease) to markers of chromosomes 1 and 17.

Defesche JC, Hoogendijk JE, de Visser M, de Visser O, Bolhuis PA. Defesche JC, et al. Among authors: bolhuis pa. Neurology. 1990 Sep;40(9):1450-3. doi: 10.1212/wnl.40.9.1450. Neurology. 1990. PMID: 2392234

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