Bolhuis PA - Search Results

1

Genetic heterogeneity in Miyoshi-type distal muscular dystrophy.

Linssen WH, de Visser M, Notermans NC, Vreyling JP, Van Doorn PA, Wokke JH, Baas F, Bolhuis PA. Linssen WH, et al. Among authors: bolhuis pa. Neuromuscul Disord. 1998 Jun;8(5):317-20. doi: 10.1016/s0960-8966(98)00020-0. Neuromuscul Disord. 1998. PMID: 9673985

2

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.

3

A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy.

van der Kooi AJ, de Visser M, van Meegen M, Ginjaar HB, van Essen AJ, Jennekens FG, Jongen PJ, Leschot NJ, Bolhuis PA. van der Kooi AJ, et al. Among authors: bolhuis pa. Neuromuscul Disord. 1998 Jun;8(5):305-8. doi: 10.1016/s0960-8966(98)00040-6. Neuromuscul Disord. 1998. PMID: 9673983

4

Duplication in chromosome 17p11.2 in Charcot-Marie-Tooth neuropathy type 1a (CMT 1a). The HMSN Collaborative Research Group.

Raeymaekers P, Timmerman V, Nelis E, De Jonghe P, Hoogendijk JE, Baas F, Barker DF, Martin JJ, De Visser M, Bolhuis PA, et al. Raeymaekers P, et al. Among authors: bolhuis pa. Neuromuscul Disord. 1991;1(2):93-7. doi: 10.1016/0960-8966(91)90055-w. Neuromuscul Disord. 1991. PMID: 1822787

5

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

6

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

7

The gene for X-linked myotubular myopathy is located in an 8 Mb region at the border of Xq27.3 and Xq28.

Janssen EA, Hensels GW, van Oost BA, Hamel BC, Kemp S, Baas F, Weber JW, Barth PG, Bolhuis PA. Janssen EA, et al. Among authors: bolhuis pa. Neuromuscul Disord. 1994 Sep-Nov;4(5-6):455-61. doi: 10.1016/0960-8966(94)90084-1. Neuromuscul Disord. 1994. PMID: 7881289

8

Alternatively sized duplication in Charcot-Marie-Tooth disease type 1A.

Valentijn LJ, Baas F, Zorn I, Hensels GW, de Visser M, Bolhuis PA. Valentijn LJ, et al. Among authors: bolhuis pa. Hum Mol Genet. 1993 Dec;2(12):2143-6. doi: 10.1093/hmg/2.12.2143. Hum Mol Genet. 1993. PMID: 8111385 No abstract available.

9

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

10

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

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