Fischbeck K - Search Results

1

Localization of Charcot-Marie-Tooth disease type 1a (CMT1A) to chromosome 17p11.2.

Vance JM, Barker D, Yamaoka LH, Stajich JM, Loprest L, Hung WY, Fischbeck K, Roses AD, Pericak-Vance MA. Vance JM, et al. Among authors: fischbeck k. Genomics. 1991 Apr;9(4):623-8. doi: 10.1016/0888-7543(91)90355-i. Genomics. 1991. PMID: 1674726

2

Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.

Pericak-Vance MA, Barker DF, Bergoffen JA, Chance P, Cochrane S, Dahl N, Exler MC, Fain PR, Fairweather ND, Fischbeck K, et al. Pericak-Vance MA, et al. Among authors: fischbeck k. Hum Hered. 1995 May-Jun;45(3):121-8. doi: 10.1159/000154272. Hum Hered. 1995. PMID: 7615296

3

Hereditary motor and sensory neuropathy, X-linked: a half century follow-up.

Rozear MP, Pericak-Vance MA, Fischbeck K, Stajich JM, Gaskell PC Jr, Krendel DA, Graham DG, Dawson DV, Roses AD. Rozear MP, et al. Among authors: fischbeck k. Neurology. 1987 Sep;37(9):1460-5. doi: 10.1212/wnl.37.9.1460. Neurology. 1987. PMID: 3476859

4

Nebulin cDNAs detect a 25-kilobase transcript in skeletal muscle and localize to human chromosome 2.

Stedman H, Browning K, Oliver N, Oronzi-Scott M, Fischbeck K, Sarkar S, Sylvester J, Schmickel R, Wang K. Stedman H, et al. Among authors: fischbeck k. Genomics. 1988 Jan;2(1):1-7. doi: 10.1016/0888-7543(88)90102-4. Genomics. 1988. PMID: 2838409

5

A locus for axonal motor-sensory neuropathy with deafness and mental retardation maps to Xq24-q26.

Priest JM, Fischbeck KH, Nouri N, Keats BJ. Priest JM, et al. Among authors: fischbeck kh. Genomics. 1995 Sep 20;29(2):409-12. doi: 10.1006/geno.1995.9987. Genomics. 1995. PMID: 8666389 Free article.

6

Evidence of a founder haplotype refines the X-linked Charcot-Marie-Tooth (CMTX3) locus to a 2.5 Mb region.

Brewer M, Changi F, Antonellis A, Fischbeck K, Polly P, Nicholson G, Kennerson M. Brewer M, et al. Among authors: fischbeck k. Neurogenetics. 2008 Jul;9(3):191-5. doi: 10.1007/s10048-008-0126-4. Epub 2008 May 6. Neurogenetics. 2008. PMID: 18458969 Free PMC article.

7

Molecular analysis of the Duchenne muscular dystrophy region using pulsed field gel electrophoresis.

Kenwrick S, Patterson M, Speer A, Fischbeck K, Davies K. Kenwrick S, et al. Among authors: fischbeck k. Cell. 1987 Jan 30;48(2):351-7. doi: 10.1016/0092-8674(87)90438-7. Cell. 1987. PMID: 3026644

8

Localisation of Xp21 meiotic exchange points in Duchenne muscular dystrophy families.

Bertelson CJ, Bartley JA, Monaco AP, Colletti-Feener C, Fischbeck K, Kunkel LM. Bertelson CJ, et al. Among authors: fischbeck k. J Med Genet. 1986 Dec;23(6):531-7. doi: 10.1136/jmg.23.6.531. J Med Genet. 1986. PMID: 2879924 Free PMC article.

9

Freeze-fracture studies of muscle caveolae in human muscular dystrophy.

Bonilla E, Fischbeck K, Schotland DL. Bonilla E, et al. Among authors: fischbeck k. Am J Pathol. 1981 Aug;104(2):167-73. Am J Pathol. 1981. PMID: 7258302 Free PMC article.

10

A Novel Splice Site Variant in COL6A1 Causes Ullrich Congenital Muscular Dystrophy in a Consanguineous Malian Family.

Maiga AB, Pamanta I, Bamba S, Cissé L, Diarra S, Touré S, Yalcouyé A, Diallo S, Diallo S, Kané F, Diallo SH, Ba HO, Guinto CO, Fischbeck K, Landoure G, Cissé IA; H3Africa Consortium. Maiga AB, et al. Among authors: fischbeck k. Mol Genet Genomic Med. 2024 Nov;12(11):e70032. doi: 10.1002/mgg3.70032. Mol Genet Genomic Med. 2024. PMID: 39523858 Free PMC article.

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