182 related articles for article (PubMed ID: 22012042)
1. Phenotypic and immunohistochemical characterization of sarcoglycanopathies.
Ferreira AF; Carvalho MS; Resende MB; Wakamatsu A; Reed UC; Marie SK
Clinics (Sao Paulo); 2011; 66(10):1713-9. PubMed ID: 22012042
[TBL] [Abstract][Full Text] [Related]
2. Very late-onset limb-girdle muscular dystrophy type 2D: A milder form with a normal muscle biopsy.
Oliveira Santos M; Coelho P; Roque R; Conceição I
J Clin Neurosci; 2020 Feb; 72():471-473. PubMed ID: 31836381
[TBL] [Abstract][Full Text] [Related]
3. Sarcoglycanopathies: a clinicopathological study of 13 cases [corrected].
Sharma MC; Mannan R; Singh NG; Gulati S; Kalra V; Sarkar C
Neurol India; 2004 Dec; 52(4):446-9. PubMed ID: 15626830
[TBL] [Abstract][Full Text] [Related]
4. Immunohistochemistry of sarcolemmal membrane-associated proteins in formalin-fixed and paraffin-embedded skeletal muscle tissue: a promising tool for the diagnostic evaluation of common muscular dystrophies.
Suriyonplengsaeng C; Dejthevaporn C; Khongkhatithum C; Sanpapant S; Tubthong N; Pinpradap K; Srinark N; Waisayarat J
Diagn Pathol; 2017 Feb; 12(1):19. PubMed ID: 28219397
[TBL] [Abstract][Full Text] [Related]
5. Sarcoglycanopathies: a clinico-pathological study.
Meena AK; Sreenivas D; Sundaram C; Rajasekhar R; Sita JS; Borgohain R; Suvarna A; Kaul S
Neurol India; 2007; 55(2):117-21. PubMed ID: 17558114
[TBL] [Abstract][Full Text] [Related]
6. The first case of primary alpha-sarcoglycanopathy identified in Albania, in two siblings with homozygous alpha-sarcoglycan mutation.
Babameto-Laku A; Tabaku M; Tashko V; Cikuli M; Mokini V
Genet Couns; 2011; 22(4):377-83. PubMed ID: 22303798
[TBL] [Abstract][Full Text] [Related]
7. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
Alonso-Pérez J; González-Quereda L; Bruno C; Panicucci C; Alavi A; Nafissi S; Nilipour Y; Zanoteli E; Isihi LMA; Melegh B; Hadzsiev K; Muelas N; Vílchez JJ; Dourado ME; Kadem N; Kutluk G; Umair M; Younus M; Pegorano E; Bello L; Crawford TO; Suárez-Calvet X; Töpf A; Guglieri M; Marini-Bettolo C; Gallano P; Straub V; Díaz-Manera J
Brain; 2022 Apr; 145(2):596-606. PubMed ID: 34515763
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in alpha sarcoglycan gene in an Iranian family with limb girdle muscular dystrophy 2D.
Mojbafan M; Nilipour Y; Tonekaboni SH; Tavakkoly-Bazzaz J; Zeinali S
Neurol Res; 2016 Mar; 38(3):220-3. PubMed ID: 27093116
[TBL] [Abstract][Full Text] [Related]
9. Evaluation of sarcoglycans, vinculin-talin-integrin system and filamin2 in alpha- and gamma-sarcoglycanopathy: an immunohistochemical study.
Anastasi G; Cutroneo G; Trimarchi F; Santoro G; Bruschetta D; Bramanti P; Pisani A; Favaloro A
Int J Mol Med; 2004 Dec; 14(6):989-99. PubMed ID: 15547664
[TBL] [Abstract][Full Text] [Related]
10. Sarcoglycanopathies: can muscle immunoanalysis predict the genotype?
Klinge L; Dekomien G; Aboumousa A; Charlton R; Epplen JT; Barresi R; Bushby K; Straub V
Neuromuscul Disord; 2008 Dec; 18(12):934-41. PubMed ID: 18996010
[TBL] [Abstract][Full Text] [Related]
11. Sarcolemmal alpha and gamma sarcoglycan protein deficiencies in Turkish siblings with a novel missense mutation in the alpha sarcoglycan gene.
Diniz G; Tosun Yildirim H; Akinci G; Hazan F; Ozturk A; Yararbas K; Tukun A
Pediatr Neurol; 2014 Jun; 50(6):640-7. PubMed ID: 24742800
[TBL] [Abstract][Full Text] [Related]
12. Beta-sarcoglycanopathy (LGMD 2E) in a Spanish family.
Rivas E; Teijeira S; dos Santos MR; Porrit I; Leturcq F; Fernandez JM; Navarro C
Acta Myol; 2004 Dec; 23(3):159-62. PubMed ID: 15938574
[TBL] [Abstract][Full Text] [Related]
13. Sarcoglycanopathies.
Kirschner J; Lochmüller H
Handb Clin Neurol; 2011; 101():41-6. PubMed ID: 21496623
[TBL] [Abstract][Full Text] [Related]
14. Sarcoglycanopathies in Dutch patients with autosomal recessive limb girdle muscular dystrophy.
Ginjaar HB; van der Kooi AJ; Ceelie H; Kneppers AL; van Meegen M; Barth PG; Busch HF; Wokke JH; Anderson LV; Bönnemann CG; Jeanpierre M; Bolhuis PA; Moorman AF; de Visser M; Bakker E; Ommen GJ
J Neurol; 2000 Jul; 247(7):524-9. PubMed ID: 10993494
[TBL] [Abstract][Full Text] [Related]
15. Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.
Xie Z; Xie Z; Yu M; Zheng Y; Sun C; Liu Y; Ling C; Zhu Y; Zhang W; Xiao J; Wang Z; Yuan Y
Orphanet J Rare Dis; 2019 Nov; 14(1):250. PubMed ID: 31747956
[TBL] [Abstract][Full Text] [Related]
16. Histopathological and genetic features of patients with limb girdle muscular dystrophy type 2C.
Dınız G; Hazan F; Yildirim HT; Unalp A; Polat M; Serdaroğlu G; Güzel O; Bağ O; Seçıl Y; Ozgönül F; Türe S; Akhan G; Tükün A
Turk Patoloji Derg; 2014; 30(2):111-7. PubMed ID: 24638197
[TBL] [Abstract][Full Text] [Related]
17. Beta-sarcoglycan gene mutations in Turkey.
Balci B; Wilichowski E; Haliloğlu G; Talim B; Aurino S; Kremer E; Ebinger F; Senbil N; Anlar B; Kale G; Nigro V; Topaloğlu H; Bonnemann C; Dinçer P
Acta Myol; 2004 Dec; 23(3):154-8. PubMed ID: 15938573
[TBL] [Abstract][Full Text] [Related]
18. New genotype-phenotype correlations in a large European cohort of patients with sarcoglycanopathy.
Alonso-Pérez J; González-Quereda L; Bello L; Guglieri M; Straub V; Gallano P; Semplicini C; Pegoraro E; Zangaro V; Nascimento A; Ortez C; Comi GP; Dam LT; De Visser M; van der Kooi AJ; Garrido C; Santos M; Schara U; Gangfuß A; Løkken N; Storgaard JH; Vissing J; Schoser B; Dekomien G; Udd B; Palmio J; D'Amico A; Politano L; Nigro V; Bruno C; Panicucci C; Sarkozy A; Abdel-Mannan O; Alonso-Jimenez A; Claeys KG; Gomez-Andrés D; Munell F; Costa-Comellas L; Haberlová J; Rohlenová M; Elke V; De Bleecker JL; Dominguez-González C; Tasca G; Weiss C; Deconinck N; Fernández-Torrón R; López de Munain A; Camacho-Salas A; Melegh B; Hadzsiev K; Leonardis L; Koritnik B; Garibaldi M; de Leon-Hernández JC; Malfatti E; Fraga-Bau A; Richard I; Illa I; Díaz-Manera J
Brain; 2020 Sep; 143(9):2696-2708. PubMed ID: 32875335
[TBL] [Abstract][Full Text] [Related]
19. Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Semplicini C; Vissing J; Dahlqvist JR; Stojkovic T; Bello L; Witting N; Duno M; Leturcq F; Bertolin C; D'Ambrosio P; Eymard B; Angelini C; Politano L; Laforêt P; Pegoraro E
Neurology; 2015 Apr; 84(17):1772-81. PubMed ID: 25862795
[TBL] [Abstract][Full Text] [Related]
20. Genetic epidemiology of muscular dystrophies resulting from sarcoglycan gene mutations.
Fanin M; Duggan DJ; Mostacciuolo ML; Martinello F; Freda MP; Sorarù G; Trevisan CP; Hoffman EP; Angelini C
J Med Genet; 1997 Dec; 34(12):973-7. PubMed ID: 9429136
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
