436 related articles for article (PubMed ID: 19248726)
1. Genetically determined neuromuscular disorders of some Roma families living in Hungary.
Aranka L; Peter M; Jeno K; Katalin R; Gyula T; Emoke E; Agnes H; Tibor H; Laszlo T; Edit B; Marta K; Janos S; Veronika K
Ideggyogy Sz; 2009 Jan; 62(1-2):41-7. PubMed ID: 19248726
[TBL] [Abstract][Full Text] [Related]
2. [Screening for hereditary neuromuscular disorders with molecular genetic methods in the Roma population of Hungary].
Herczegfalvi A; Pikó H; Karcagi V
Ideggyogy Sz; 2008 Nov; 61(11-12):426-30. PubMed ID: 19070320
[TBL] [Abstract][Full Text] [Related]
3. Diagnostic challenges in facioscapulohumeral muscular dystrophy.
Sacconi S; Salviati L; Bourget I; Figarella D; Péréon Y; Lemmers R; van der Maarel S; Desnuelle C
Neurology; 2006 Oct; 67(8):1464-6. PubMed ID: 17060574
[TBL] [Abstract][Full Text] [Related]
4. [Facioscapulohumeral muscular dystrophy. The spectrum of clinical manifestations and molecular genetic changes].
Krasnianski M; Neudecker S; Eger K; Schulte-Mattler W; Zierz S
Nervenarzt; 2003 Feb; 74(2):151-8. PubMed ID: 12596016
[TBL] [Abstract][Full Text] [Related]
5. Analysis of the UK diagnostic strategy for limb girdle muscular dystrophy 2A.
Groen EJ; Charlton R; Barresi R; Anderson LV; Eagle M; Hudson J; Koref MS; Straub V; Bushby KM
Brain; 2007 Dec; 130(Pt 12):3237-49. PubMed ID: 18055493
[TBL] [Abstract][Full Text] [Related]
6. Rimmed vacuoles in facioscapulohumeral muscular dystrophy: a unique ultrastructural feature.
Neudecker S; Krasnianski M; Bahn E; Zierz S
Acta Neuropathol; 2004 Sep; 108(3):257-9. PubMed ID: 15221332
[TBL] [Abstract][Full Text] [Related]
7. Severe phenotype in infantile facioscapulohumeral muscular dystrophy.
Klinge L; Eagle M; Haggerty ID; Roberts CE; Straub V; Bushby KM
Neuromuscul Disord; 2006 Oct; 16(9-10):553-8. PubMed ID: 16934468
[TBL] [Abstract][Full Text] [Related]
8. Facioscapulohumeral dystrophy presenting as infantile facial diplegia and late-onset limb-girdle myopathy in members of the same family.
Felice KJ; Jones JM; Conway SR
Muscle Nerve; 2005 Sep; 32(3):368-72. PubMed ID: 15880682
[TBL] [Abstract][Full Text] [Related]
9. Expression profile of FSHD supports a link between retinal vasculopathy and muscular dystrophy.
Osborne RJ; Welle S; Venance SL; Thornton CA; Tawil R
Neurology; 2007 Feb; 68(8):569-77. PubMed ID: 17151338
[TBL] [Abstract][Full Text] [Related]
10. C283Y gamma-sarcoglycan gene mutation in the Bulgarian Roma (Gypsy) population: prevalence study and carrier screening in a high-risk community.
Georgieva B; Todorova A; Tournev I; Mitev V; Kremensky I
Clin Genet; 2004 Nov; 66(5):467-72. PubMed ID: 15479193
[TBL] [Abstract][Full Text] [Related]
11. FSHD-like patients without 4q35 deletion.
Yamanaka G; Goto K; Ishihara T; Oya Y; Miyajima T; Hoshika A; Nishino I; Hayashi YK
J Neurol Sci; 2004 Apr; 219(1-2):89-93. PubMed ID: 15050443
[TBL] [Abstract][Full Text] [Related]
12. Typical facioscapulohumeral dystrophy phenotype in patients without FSHD 4q35 deletion.
Krasnianski M; Neudecker S; Eger K; Jakubiczka S; Zierz S
J Neurol; 2003 Sep; 250(9):1084-7. PubMed ID: 14504970
[TBL] [Abstract][Full Text] [Related]
13. Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the gamma-sarcoglycan gene.
Lasa A; Piccolo F; de Diego C; Jeanpierre M; Colomer J; Rodríguez MJ; Urtizberea JA; Baiget M; Kaplan J; Gallano P
Eur J Hum Genet; 1998; 6(4):396-9. PubMed ID: 9781048
[TBL] [Abstract][Full Text] [Related]
14. LGMD2A: genotype-phenotype correlations based on a large mutational survey on the calpain 3 gene.
Sáenz A; Leturcq F; Cobo AM; Poza JJ; Ferrer X; Otaegui D; Camaño P; Urtasun M; Vílchez J; Gutiérrez-Rivas E; Emparanza J; Merlini L; Paisán C; Goicoechea M; Blázquez L; Eymard B; Lochmuller H; Walter M; Bonnemann C; Figarella-Branger D; Kaplan JC; Urtizberea JA; Martí-Massó JF; López de Munain A
Brain; 2005 Apr; 128(Pt 4):732-42. PubMed ID: 15689361
[TBL] [Abstract][Full Text] [Related]
15. Limb-girdle muscular dystrophy due to emerin gene mutations.
Ura S; Hayashi YK; Goto K; Astejada MN; Murakami T; Nagato M; Ohta S; Daimon Y; Takekawa H; Hirata K; Nonaka I; Noguchi S; Nishino I
Arch Neurol; 2007 Jul; 64(7):1038-41. PubMed ID: 17620497
[TBL] [Abstract][Full Text] [Related]
16. High prevalence and phenotype-genotype correlations of limb girdle muscular dystrophy type 2I in Denmark.
Sveen ML; Schwartz M; Vissing J
Ann Neurol; 2006 May; 59(5):808-15. PubMed ID: 16634037
[TBL] [Abstract][Full Text] [Related]
17. Genotype-phenotype study in an FSHD family with a proximal deletion encompassing p13E-11 and D4Z4.
Deak KL; Lemmers RJ; Stajich JM; Klooster R; Tawil R; Frants RR; Speer MC; van der Maarel SM; Gilbert JR
Neurology; 2007 Feb; 68(8):578-82. PubMed ID: 17229919
[TBL] [Abstract][Full Text] [Related]
18. Neuromuscular disorders in the Gypsy ethnic group. A short review.
Navarro C; Teijeira S
Acta Myol; 2003 May; 22(1):11-4. PubMed ID: 12966699
[TBL] [Abstract][Full Text] [Related]
19. Alport syndrome. Molecular genetic aspects.
Hertz JM
Dan Med Bull; 2009 Aug; 56(3):105-52. PubMed ID: 19728970
[TBL] [Abstract][Full Text] [Related]
20. Late-onset autosomal dominant limb girdle muscular dystrophy and Paget's disease of bone unlinked to the VCP gene locus.
Kottlors M; Moske-Eick O; Huebner A; Krause S; Mueller K; Kress W; Schwarzwald R; Bornemann A; Haug V; Heitzer M; Kirschner J
J Neurol Sci; 2010 Apr; 291(1-2):79-85. PubMed ID: 20116073
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
