Fischbeck KH - Search Results

1

Glycyl tRNA synthetase mutations in Charcot-Marie-Tooth disease type 2D and distal spinal muscular atrophy type V.

Antonellis A, Ellsworth RE, Sambuughin N, Puls I, Abel A, Lee-Lin SQ, Jordanova A, Kremensky I, Christodoulou K, Middleton LT, Sivakumar K, Ionasescu V, Funalot B, Vance JM, Goldfarb LG, Fischbeck KH, Green ED. Antonellis A, et al. Among authors: fischbeck kh. Am J Hum Genet. 2003 May;72(5):1293-9. doi: 10.1086/375039. Epub 2003 Apr 10. Am J Hum Genet. 2003. PMID: 12690580 Free PMC article.

2

A yeast artificial chromosome contig spanning the Charcot-Marie-Tooth disease type 1A duplication region.

Nieuwenhuijsen BW, Chen KL, Chinault AC, Wang S, Valmiki VH, Meershoek EJ, van Ommen GJ, Fischbeck KH. Nieuwenhuijsen BW, et al. Among authors: fischbeck kh. Hum Mol Genet. 1992 Nov;1(8):605-12. doi: 10.1093/hmg/1.8.605. Hum Mol Genet. 1992. PMID: 1301169

3

The peripheral myelin gene PMP-22/GAS-3 is duplicated in Charcot-Marie-Tooth disease type 1A.

Valentijn LJ, Bolhuis PA, Zorn I, Hoogendijk JE, van den Bosch N, Hensels GW, Stanton VP Jr, Housman DE, Fischbeck KH, Ross DA, et al. Valentijn LJ, et al. Among authors: fischbeck kh. Nat Genet. 1992 Jun;1(3):166-70. doi: 10.1038/ng0692-166. Nat Genet. 1992. PMID: 1303229

4

Localization of the gene for X-linked spinal muscular atrophy.

Fischbeck KH, Ionasescu V, Ritter AW, Ionasescu R, Davies K, Ball S, Bosch P, Burns T, Hausmanowa-Petrusewicz I, Borkowska J, et al. Fischbeck KH, et al. Neurology. 1986 Dec;36(12):1595-8. doi: 10.1212/wnl.36.12.1595. Neurology. 1986. PMID: 3466055

5

Molecular genetics of Charcot-Marie-Tooth disease and related neuropathies.

Chance PF, Fischbeck KH. Chance PF, et al. Among authors: fischbeck kh. Hum Mol Genet. 1994;3 Spec No:1503-7. doi: 10.1093/hmg/3.suppl_1.1503. Hum Mol Genet. 1994. PMID: 7849745 Review.

6

X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms.

Cochrane S, Bergoffen J, Fairweather ND, Müller E, Mostacciuolo ML, Monaco AP, Fischbeck KH, Haites NE. Cochrane S, et al. Among authors: fischbeck kh. J Med Genet. 1994 Mar;31(3):193-6. doi: 10.1136/jmg.31.3.193. J Med Genet. 1994. PMID: 7912286 Free PMC article.

7

Linkage localization of X-linked Charcot-Marie-Tooth disease.

Bergoffen J, Trofatter J, Pericak-Vance MA, Haines JL, Chance PF, Fischbeck KH. Bergoffen J, et al. Among authors: fischbeck kh. Am J Hum Genet. 1993 Feb;52(2):312-8. Am J Hum Genet. 1993. PMID: 8430694 Free PMC article.

8

Founder effect in spinal and bulbar muscular atrophy (SBMA).

Tanaka F, Doyu M, Ito Y, Matsumoto M, Mitsuma T, Abe K, Aoki M, Itoyama Y, Fischbeck KH, Sobue G. Tanaka F, et al. Among authors: fischbeck kh. Hum Mol Genet. 1996 Sep;5(9):1253-7. doi: 10.1093/hmg/5.9.1253. Hum Mol Genet. 1996. PMID: 8872464

9

The role of the gap junction protein connexin32 in the pathogenesis of X-linked Charcot-Marie-Tooth disease.

Scherer SS, Bone LJ, Deschênes SM, Abel A, Balice-Gordon RJ, Fischbeck KH. Scherer SS, et al. Among authors: fischbeck kh. Novartis Found Symp. 1999;219:175-85; discussion 185-7. doi: 10.1002/9780470515587.ch11. Novartis Found Symp. 1999. PMID: 10207904 Review.

10

Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease.

Abel A, Bone LJ, Messing A, Scherer SS, Fischbeck KH. Abel A, et al. Among authors: fischbeck kh. J Neuropathol Exp Neurol. 1999 Jul;58(7):702-10. doi: 10.1097/00005072-199907000-00004. J Neuropathol Exp Neurol. 1999. PMID: 10411340

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