de Visser M - Search Results

1

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: de visser m. Nat Genet. 1992 Dec;2(4):288-91. doi: 10.1038/ng1292-288. Nat Genet. 1992. PMID: 1303281

2

The duplication in Charcot-Marie-Tooth disease type 1a spans at least 1100 kb on chromosome 17p11.2.

Hoogendijk JE, Hensels GW, Zorn I, Valentijn L, Janssen EA, de Visser M, Barker DF, Ongerboer de Visser BW, Baas F, Bolhuis PA. Hoogendijk JE, et al. Among authors: de visser m. Hum Genet. 1991 Dec;88(2):215-8. doi: 10.1007/BF00206075. Hum Genet. 1991. PMID: 1721895

3

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: de visser o, de visser m. Neurology. 1990 Sep;40(9):1450-3. doi: 10.1212/wnl.40.9.1450. Neurology. 1990. PMID: 2392234

4

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: de visser m. Nat Genet. 1993 Sep;5(1):35-9. doi: 10.1038/ng0993-35. Nat Genet. 1993. PMID: 7693130

5

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: de visser m. 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.

6

Hereditary motor and sensory neuropathy type I: clinical and neurographical features of the 17p duplication subtype.

Hoogendijk JE, De Visser M, Bolhuis PA, Hart AA, Ongerboer de Visser BW. Hoogendijk JE, et al. Among authors: de visser m. Muscle Nerve. 1994 Jan;17(1):85-90. doi: 10.1002/mus.880170112. Muscle Nerve. 1994. PMID: 8264707

7

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: de visser m. Nat Genet. 1996 Sep;14(1):113-5. doi: 10.1038/ng0996-113. Nat Genet. 1996. PMID: 8782832

8

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.

Gabreëls-Festen AA, Hoogendijk JE, Meijerink PH, Gabreëls FJ, Bolhuis PA, van Beersum S, Kulkens T, Nelis E, Jennekens FG, de Visser M, van Engelen BG, Van Broeckhoven C, Mariman EC. Gabreëls-Festen AA, et al. Among authors: de visser m. Neurology. 1996 Sep;47(3):761-5. doi: 10.1212/wnl.47.3.761. Neurology. 1996. PMID: 8797476

9

Clinically distinct codon 69 mutations in major myelin protein zero in demyelinating neuropathies.

Meijerink PH, Hoogendijk JE, Gabreëls-Festen AA, Zorn I, Veldman H, Baas F, de Visser M, Bolhuis PA. Meijerink PH, et al. Among authors: de visser m. Ann Neurol. 1996 Oct;40(4):672-5. doi: 10.1002/ana.410400418. Ann Neurol. 1996. PMID: 8871588 Free article.

10

Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).

Janssen EA, Kemp S, Hensels GW, Sie OG, de Die-Smulders CE, Hoogendijk JE, de Visser M, Bolhuis PA. Janssen EA, et al. Among authors: de die smulders ce, de visser m. Hum Genet. 1997 Apr;99(4):501-5. doi: 10.1007/s004390050396. Hum Genet. 1997. PMID: 9099841

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