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139 related items for PubMed ID: 8624690
1. Juvenile limb-girdle muscular dystrophy. Clinical, histopathological and genetic data from a small community living in the Reunion Island. Fardeau M, Hillaire D, Mignard C, Feingold N, Feingold J, Mignard D, de Ubeda B, Collin H, Tome FM, Richard I, Beckmann J. Brain; 1996 Feb; 119 ( Pt 1)():295-308. PubMed ID: 8624690 [Abstract] [Full Text] [Related]
2. Chromosome 15-linked limb-girdle muscular dystrophy: clinical phenotypes in Reunion Island and French metropolitan communities. Fardeau M, Eymard B, Mignard C, Tomé FM, Richard I, Beckmann JS. Neuromuscul Disord; 1996 Dec; 6(6):447-53. PubMed ID: 9027854 [Abstract] [Full Text] [Related]
3. Preferential localization of the limb-girdle muscular dystrophy type 2A gene in the proximal part of a 1-cM 15q15.1-q15.3 interval. Allamand V, Broux O, Richard I, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Pereira de Souza A. Am J Hum Genet; 1995 Jun; 56(6):1417-30. PubMed ID: 7762565 [Abstract] [Full Text] [Related]
4. 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. PubMed ID: 8929943 [Abstract] [Full Text] [Related]
5. 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. PubMed ID: 10838249 [Abstract] [Full Text] [Related]
6. Limb-girdle muscular dystrophy in Guipúzcoa (Basque Country, Spain). Urtasun M, Sáenz A, Roudaut C, Poza JJ, Urtizberea JA, Cobo AM, Richard I, García Bragado F, Leturcq F, Kaplan JC, Martí Massó JF, Beckmann JS, López de Munain A. Brain; 1998 Sep; 121 ( Pt 9)():1735-47. PubMed ID: 9762961 [Abstract] [Full Text] [Related]
7. 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. PubMed ID: 9634523 [Abstract] [Full Text] [Related]
8. Evidence of genetic heterogeneity in the autosomal recessive adult forms of limb-girdle muscular dystrophy following linkage analysis with 15q probes in Brazilian families. Passos-Bueno MR, Richard I, Vainzof M, Fougerousse F, Weissenbach J, Broux O, Cohen D, Akiyama J, Marie SK, Carvalho AA. J Med Genet; 1993 May; 30(5):385-7. PubMed ID: 8320700 [Abstract] [Full Text] [Related]
9. 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. PubMed ID: 9009996 [Abstract] [Full Text] [Related]
10. Limb-girdle muscular dystrophy: a follow-up study of 79 patients. Mahjneh I, Bushby K, Pizzi A, Bashir R, Marconi G. Acta Neurol Scand; 1996 Sep; 94(3):177-89. PubMed ID: 8899051 [Abstract] [Full Text] [Related]
11. Limb-girdle muscular dystrophy is closely linked to the fibrillin locus on chromosome 15. Velinov M, Sarfarazi M, Young K, Hodes ME, Conneally PM, Jackson CE, Tsipouras P. Connect Tissue Res; 1993 Sep; 29(1):13-21. PubMed ID: 8339542 [Abstract] [Full Text] [Related]
12. A large inbred Palestinian family with two forms of muscular dystrophy. Mahjneh I, Vannelli G, Bushby K, Marconi GP. Neuromuscul Disord; 1992 Sep; 2(4):277-83. PubMed ID: 1483054 [Abstract] [Full Text] [Related]
13. Prenatal diagnosis of limb-girdle muscular dystrophy type 2A. Restagno G, Romero N, Richard I, Beckmann JS, Pagliano M, Ferrone M, Carbonara A, Merlini L. Neuromuscul Disord; 1996 May; 6(3):173-6. PubMed ID: 8784805 [Abstract] [Full Text] [Related]
14. Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A. Richard I, Broux O, Allamand V, Fougerousse F, Chiannilkulchai N, Bourg N, Brenguier L, Devaud C, Pasturaud P, Roudaut C. Cell; 1995 Apr 07; 81(1):27-40. PubMed ID: 7720071 [Abstract] [Full Text] [Related]
15. A gene for autosomal recessive limb-girdle muscular dystrophy maps to chromosome 2p. Bashir R, Strachan T, Keers S, Stephenson A, Mahjneh I, Marconi G, Nashef L, Bushby KM. Hum Mol Genet; 1994 Mar 07; 3(3):455-7. PubMed ID: 8012357 [Abstract] [Full Text] [Related]
16. Heterogeneity in familial dominant Paget disease of bone and muscular dystrophy. Waggoner B, Kovach MJ, Winkelman M, Cai D, Khardori R, Gelber D, Kimonis VE. Am J Med Genet; 2002 Mar 15; 108(3):187-91. PubMed ID: 11891683 [Abstract] [Full Text] [Related]
17. Genetic heterogeneity of autosomal recessive limb-girdle muscular dystrophy in a genetic isolate (Amish) and evidence for a new locus. Allamand V, Broux O, Bourg N, Richard I, Tischfield JA, Hodes ME, Conneally PM, Fardeau M, Jackson CE, Beckmann JS. Hum Mol Genet; 1995 Mar 15; 4(3):459-63. PubMed ID: 7795603 [Abstract] [Full Text] [Related]
18. Limb girdle muscular dystrophy: description of a phenotype. Stübgen JP. Muscle Nerve; 1994 Dec 15; 17(12):1449-55. PubMed ID: 7969245 [Abstract] [Full Text] [Related]
19. Merosin-positive congenital muscular dystrophy: a large inbred family. Mahjneh I, Bushby K, Anderson L, Muntoni F, Tolvanen-Mahjneh H, Bashir R, Pizzi A, Brockington M, Marconi G. Neuropediatrics; 1999 Feb 15; 30(1):22-8. PubMed ID: 10222457 [Abstract] [Full Text] [Related]
20. 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 15; 4(7):1163-7. PubMed ID: 8528203 [Abstract] [Full Text] [Related] Page: [Next] [New Search]