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Items: 1 to 20 of 773

1.

Clinical and molecular analysis of a large family with three distinct phenotypes of progressive muscular dystrophy.

Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Vereshchagin NV, Markova ED, Poleshchuk VV, Lozhnikova SM, Sukhorukov VS, Limborska SA, Slominsky PA, Bulayeva KB, Tsuji S.

Brain. 1996 Dec;119 ( Pt 6):1895-909.

PMID:
9009996
2.

Refined genetic location of the chromosome 2p-linked progressive muscular dystrophy gene.

Illarioshkin SN, Ivanova-Smolenskaya IA, Tanaka H, Poleshchuk VV, Markova ED, Tsuji S.

Genomics. 1997 Jun 1;42(2):345-8.

PMID:
9192858
3.

Limb-girdle muscular dystrophy and Miyoshi myopathy in an aboriginal Canadian kindred map to LGMD2B and segregate with the same haplotype.

Weiler T, Greenberg CR, Nylen E, Halliday W, Morgan K, Eggertson D, Wrogemann K.

Am J Hum Genet. 1996 Oct;59(4):872-8.

4.

[Mapping of the gene for autosomal-recessive progressive muscular dystrophy in an isolate from a highland region of Dagestan to chromosome 2-13].

Illarioshkin SN, Ivanova-Smolenskaia IA, Dimborskaia SA, Poleshchuk VV, Markova ED, Slominskiĭ PA, Bulaeva KB, Tsudzi Sh.

Genetika. 1997 Nov;33(11):1551-8. Russian.

PMID:
9480219
5.

Genetic and physical mapping at the limb-girdle muscular dystrophy locus (LGMD2B) on chromosome 2p.

Bashir R, Keers S, Strachan T, Passos-Bueno R, Zatz M, Weissenbach J, Le Paslier D, Meisler M, Bushby K.

Genomics. 1996 Apr 1;33(1):46-52.

PMID:
8617508
6.

A gene for autosomal recessive limb-girdle muscular dystrophy in Manitoba Hutterites maps to chromosome region 9q31-q33: evidence for another limb-girdle muscular dystrophy locus.

Weiler T, Greenberg CR, Zelinski T, Nylen E, Coghlan G, Crumley MJ, Fujiwara TM, Morgan K, Wrogemann K.

Am J Hum Genet. 1998 Jul;63(1):140-7.

7.

Confirmation of the 2p locus for the mild autosomal recessive limb-girdle muscular dystrophy gene (LGMD2B) in three families allows refinement of the candidate region.

Passos-Bueno MR, Bashir R, Moreira ES, Vainzof M, Marie SK, Vasquez L, Iughetti P, Bakker E, Keers S, Stephenson A, et al.

Genomics. 1995 May 1;27(1):192-5.

PMID:
7665169
8.

A common missense mutation in the adhalin gene in three unrelated Brazilian families with a relatively mild form of autosomal recessive limb-girdle muscular dystrophy.

Bueno MR, Moreira ES, Vainzof M, Chamberlain J, Marie SK, Pereira L, Akiyama J, Roberds SL, Campbell KP, Zatz M.

Hum Mol Genet. 1995 Jul;4(7):1163-7.

PMID:
8528203
9.

Linkage of Miyoshi myopathy (distal autosomal recessive muscular dystrophy) locus to chromosome 2p12-14.

Bejaoui K, Hirabayashi K, Hentati F, Haines JL, Ben Hamida C, Belal S, Miller RG, McKenna-Yasek D, Weissenbach J, Rowland LP, et al.

Neurology. 1995 Apr;45(4):768-72.

PMID:
7723968
10.

A new locus for autosomal recessive limb-girdle muscular dystrophy in a large consanguineous Tunisian family maps to chromosome 19q13.3.

Driss A, Amouri R, Ben Hamida C, Souilem S, Gouider-Khouja N, Ben Hamida M, Hentati F.

Neuromuscul Disord. 2000 Jun;10(4-5):240-6.

PMID:
10838249
11.

Assignment of the tibial muscular dystrophy locus to chromosome 2q31.

Haravuori H, Mäkelä-Bengs P, Udd B, Partanen J, Pulkkinen L, Somer H, Peltonen L.

Am J Hum Genet. 1998 Mar;62(3):620-6.

12.

Main clinical features of the three mapped autosomal recessive limb-girdle muscular dystrophies and estimated proportion of each form in 13 Brazilian families.

Passos-Bueno MR, Moreira ES, Marie SK, Bashir R, Vasquez L, Love DR, Vainzof M, Iughetti P, Oliveira JR, Bakker E, Strachan T, Bushby K, Zatz M.

J Med Genet. 1996 Feb;33(2):97-102.

13.

The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12.

Moreira ES, Vainzof M, Marie SK, Sertié AL, Zatz M, Passos-Bueno MR.

Am J Hum Genet. 1997 Jul;61(1):151-9.

14.

[Miyoshi distal muscular dystrophy].

Hirabayashi K.

Nihon Rinsho. 1997 Dec;55(12):3190-4. Review. Japanese.

PMID:
9436434
15.

Linkage analysis in families with autosomal recessive limb-girdle muscular dystrophy (LGMD) and 6q probes flanking the dystrophin-related sequence.

Passos-Bueno MR, Terwilliger J, Ott J, Vainzof M, Love DR, Davies KE, Zatz M.

Am J Med Genet. 1991 Jan;38(1):140-6.

PMID:
2012126
16.

Limb-girdle muscular dystrophy 2I: phenotypic variability within a large consanguineous Bedouin family associated with a novel FKRP mutation.

Harel T, Goldberg Y, Shalev SA, Chervinski I, Ofir R, Birk OS.

Eur J Hum Genet. 2004 Jan;12(1):38-43.

17.

A new form of autosomal dominant limb-girdle muscular dystrophy (LGMD1G) with progressive fingers and toes flexion limitation maps to chromosome 4p21.

Starling A, Kok F, Passos-Bueno MR, Vainzof M, Zatz M.

Eur J Hum Genet. 2004 Dec;12(12):1033-40. Erratum in: Eur J Hum Genet. 2005 Feb;13(2):264.

18.

Autosomal dominant distal myopathy: further evidence of a chromosome 14 locus.

Voit T, Kutz P, Leube B, Neuen-Jacob E, Schröder JM, Cavallotti D, Vaccario ML, Schaper J, Broich P, Cohn R, Baethmann M, Göhlich-Ratmann G, Scoppetta C, Herrmann R.

Neuromuscul Disord. 2001 Jan;11(1):11-9.

PMID:
11166161
19.

Congenital muscular dystrophy with rigid spine syndrome: a clinical, pathological, radiological, and genetic study.

Flanigan KM, Kerr L, Bromberg MB, Leonard C, Tsuruda J, Zhang P, Gonzalez-Gomez I, Cohn R, Campbell KP, Leppert M.

Ann Neurol. 2000 Feb;47(2):152-61.

PMID:
10665485
20.

A novel autosomal recessive limb-girdle muscular dystrophy with quadriceps atrophy maps to 11p13-p12.

Jarry J, Rioux MF, Bolduc V, Robitaille Y, Khoury V, Thiffault I, Tétreault M, Loisel L, Bouchard JP, Brais B.

Brain. 2007 Feb;130(Pt 2):368-80. Epub 2006 Sep 28.

PMID:
17008331

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