579 related articles for article (PubMed ID: 23245554)
1. Update on the genetics of limb girdle muscular dystrophy.
Mitsuhashi S; Kang PB
Semin Pediatr Neurol; 2012 Dec; 19(4):211-8. PubMed ID: 23245554
[TBL] [Abstract][Full Text] [Related]
2. Use of Whole-Exome Sequencing for Diagnosis of Limb-Girdle Muscular Dystrophy: Outcomes and Lessons Learned.
Ghaoui R; Cooper ST; Lek M; Jones K; Corbett A; Reddel SW; Needham M; Liang C; Waddell LB; Nicholson G; O'Grady G; Kaur S; Ong R; Davis M; Sue CM; Laing NG; North KN; MacArthur DG; Clarke NF
JAMA Neurol; 2015 Dec; 72(12):1424-32. PubMed ID: 26436962
[TBL] [Abstract][Full Text] [Related]
3. [Autosomal recessive limb-girdle muscular dystrophy].
Hernández-Caballero ME; Miranda-Duarte A; Escobar-Cedillo RE; Villegas-Castrejon H
Rev Neurol; 2010 Oct; 51(8):489-96. PubMed ID: 20925031
[TBL] [Abstract][Full Text] [Related]
4. ANO5 mutations in the Dutch limb girdle muscular dystrophy population.
van der Kooi AJ; Ten Dam L; Frankhuizen WS; Straathof CS; van Doorn PA; de Visser M; Ginjaar IB
Neuromuscul Disord; 2013 Jun; 23(6):456-60. PubMed ID: 23607914
[TBL] [Abstract][Full Text] [Related]
5. Limb-girdle muscular dystrophy: diagnostic evaluation, frequency and clues to pathogenesis.
Lo HP; Cooper ST; Evesson FJ; Seto JT; Chiotis M; Tay V; Compton AG; Cairns AG; Corbett A; MacArthur DG; Yang N; Reardon K; North KN
Neuromuscul Disord; 2008 Jan; 18(1):34-44. PubMed ID: 17897828
[TBL] [Abstract][Full Text] [Related]
6. Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
Fanin M; Angelini C
Muscle Nerve; 2015 Aug; 52(2):163-73. PubMed ID: 25900067
[TBL] [Abstract][Full Text] [Related]
7. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
Løkken N; Born AP; Duno M; Vissing J
Muscle Nerve; 2015 Oct; 52(4):547-53. PubMed ID: 25663498
[TBL] [Abstract][Full Text] [Related]
8. 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. PubMed ID: 15367920
[TBL] [Abstract][Full Text] [Related]
9. Clinical, pathological, imaging, and genetic characterization in a Taiwanese cohort with limb-girdle muscular dystrophy.
Liang WC; Jong YJ; Wang CH; Wang CH; Tian X; Chen WZ; Kan TM; Minami N; Nishino I; Wong LC
Orphanet J Rare Dis; 2020 Jun; 15(1):160. PubMed ID: 32576226
[TBL] [Abstract][Full Text] [Related]
10. Exome sequencing as a second-tier diagnostic approach for clinically suspected dysferlinopathy patients.
Bartoli M; Desvignes JP; Nicolas L; Martin K
Muscle Nerve; 2014 Dec; 50(6):1007-10. PubMed ID: 25046369
[TBL] [Abstract][Full Text] [Related]
11. Epilepsy and limb girdle muscular dystrophy type 2A: double trouble, serendipitous finding or new phenotype?
Pizzanelli C; Mancuso M; Galli R; Choub A; Fanin M; Nascimbeni AC; Siciliano G; Murri L
Neurol Sci; 2006 Jun; 27(2):134-6. PubMed ID: 16816913
[TBL] [Abstract][Full Text] [Related]
12. Eight new mutations and the expanding phenotype variability in muscular dystrophy caused by ANO5.
Penttilä S; Palmio J; Suominen T; Raheem O; Evilä A; Muelas Gomez N; Tasca G; Waddell LB; Clarke NF; Barboi A; Hackman P; Udd B
Neurology; 2012 Mar; 78(12):897-903. PubMed ID: 22402862
[TBL] [Abstract][Full Text] [Related]
13. Dystrophinopathies and Limb-Girdle Muscular Dystrophies.
Domingos J; Sarkozy A; Scoto M; Muntoni F
Neuropediatrics; 2017 Aug; 48(4):262-272. PubMed ID: 28427100
[TBL] [Abstract][Full Text] [Related]
14. The limb-girdle muscular dystrophies.
Wicklund MP; Kissel JT
Neurol Clin; 2014 Aug; 32(3):729-49, ix. PubMed ID: 25037088
[TBL] [Abstract][Full Text] [Related]
15. Limb girdle muscular dystrophy type 2A in India: a study based on semi-quantitative protein analysis, with clinical and histopathological correlation.
Pathak P; Sharma MC; Sarkar C; Jha P; Suri V; Mohd H; Singh S; Bhatia R; Gulati S
Neurol India; 2010; 58(4):549-54. PubMed ID: 20739790
[TBL] [Abstract][Full Text] [Related]
16. 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. PubMed ID: 17008331
[TBL] [Abstract][Full Text] [Related]
17. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
Fichna JP; Macias A; Piechota M; Korostyński M; Potulska-Chromik A; Redowicz MJ; Zekanowski C
Hum Genomics; 2018 Jul; 12(1):34. PubMed ID: 29970176
[TBL] [Abstract][Full Text] [Related]
18. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
Hadj Salem I; Kamoun F; Louhichi N; Rouis S; Mziou M; Fendri-Kriaa N; Makni-Ayadi F; Triki C; Fakhfakh F
Biosci Rep; 2011 Apr; 31(2):125-35. PubMed ID: 20477750
[TBL] [Abstract][Full Text] [Related]
19. Childhood onset of limb-girdle muscular dystrophy.
Rosales XQ; al-Dahhak R; Tsao CY
Pediatr Neurol; 2012 Jan; 46(1):13-23. PubMed ID: 22196486
[TBL] [Abstract][Full Text] [Related]
20. The diagnostic utility of a commercial limb-girdle muscular dystrophy gene test panel.
Ghosh PS; Zhou L
J Clin Neuromuscul Dis; 2012 Dec; 14(2):86-7. PubMed ID: 23172390
[No Abstract] [Full Text] [Related]
[Next] [New Search]
