141 related articles for article (PubMed ID: 26944168)
1. Probable high prevalence of limb-girdle muscular dystrophy type 2D in Taiwan.
Liang WC; Chou PC; Hung CC; Su YN; Kan TM; Chen WZ; Hayashi YK; Nishino I; Jong YJ
J Neurol Sci; 2016 Mar; 362():304-8. PubMed ID: 26944168
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report.
Al-Harbi KM; Abdallah AM
Neuro Endocrinol Lett; 2016 Sep; 37(4):277-281. PubMed ID: 27857043
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. Enrichment of the R77C alpha-sarcoglycan gene mutation in Finnish LGMD2D patients.
Hackman P; Juvonen V; Sarparanta J; Penttinen M; Aärimaa T; Uusitalo M; Auranen M; Pihko H; Alén R; Junes M; Lönnqvist T; Kalimo H; Udd B
Muscle Nerve; 2005 Feb; 31(2):199-204. PubMed ID: 15736300
[TBL] [Abstract][Full Text] [Related]
7. Preclinical Systemic Delivery of Adeno-Associated α-Sarcoglycan Gene Transfer for Limb-Girdle Muscular Dystrophy.
Griffin DA; Pozsgai ER; Heller KN; Potter RA; Peterson EL; Rodino-Klapac LR
Hum Gene Ther; 2021 Apr; 32(7-8):390-404. PubMed ID: 33349138
[TBL] [Abstract][Full Text] [Related]
8. Mutational spectrum of autosomal recessive limb-girdle muscular dystrophies in a cohort of 112 Iranian patients and reporting of a possible founder effect.
Mojbafan M; Bahmani R; Bagheri SD; Sharifi Z; Zeinali S
Orphanet J Rare Dis; 2020 Jan; 15(1):14. PubMed ID: 31937337
[TBL] [Abstract][Full Text] [Related]
9. Identification of a novel SGCA missense mutation in a case of limb-girdle muscular dystrophy 2D with the absence of four sarcoglycan proteins.
Lu Y; Song X; Ji G; Wu H; Li D; Sun S
Neuropathology; 2019 Jun; 39(3):207-211. PubMed ID: 30989758
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. A new mutation of the SCGA gene is the cause of a late onset mild phenotype limb girdle muscular dystrophy type 2D with axial involvement.
Gonzalez-Quereda L; Gallardo E; Töpf A; Alonso-Jimenez A; Straub V; Rodriguez MJ; Lleixa C; Illa I; Gallano P; Diaz-Manera J
Neuromuscul Disord; 2018 Aug; 28(8):633-638. PubMed ID: 30007747
[TBL] [Abstract][Full Text] [Related]
12. Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.
Carotti M; Marsolier J; Soardi M; Bianchini E; Gomiero C; Fecchio C; Henriques SF; Betto R; Sacchetto R; Richard I; Sandonà D
Hum Mol Genet; 2018 Mar; 27(6):969-984. PubMed ID: 29351619
[TBL] [Abstract][Full Text] [Related]
13. Clinical and genetic spectrum of sarcoglycanopathies in a large cohort of Chinese patients.
Xie Z; Hou Y; Yu M; Liu Y; Fan Y; Zhang W; Wang Z; Xiong H; Yuan Y
Orphanet J Rare Dis; 2019 Feb; 14(1):43. PubMed ID: 30764848
[TBL] [Abstract][Full Text] [Related]
14. Genetic heterogeneity within a consanguineous family involving the LGMD 2D and the LGMD 2C genes.
Fendri K; Kefi M; Hentati F; Amouri R
Neuromuscul Disord; 2006 May; 16(5):316-20. PubMed ID: 16616845
[TBL] [Abstract][Full Text] [Related]
15. LGMD2E is the most common type of sarcoglycanopathies in the Iranian population.
Alavi A; Esmaeili S; Nilipour Y; Nafissi S; Tonekaboni SH; Zamani G; Ashrafi MR; Kahrizi K; Najmabadi H; Jazayeri F
J Neurogenet; 2017 Sep; 31(3):161-169. PubMed ID: 28687063
[TBL] [Abstract][Full Text] [Related]
16. A rare form of limb girdle muscular dystrophy (type 2E) seen in an Iranian family detected by autozygosity mapping.
Mojbafan M; Nilipour Y; Tonekaboni SH; Bagheri SD; Bagherian H; Sharifi Z; Zeinali Z; Tavakkoly-Bazzaz J; Zeinali S
J Neurogenet; 2016 Mar; 30(1):1-4. PubMed ID: 27276190
[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. 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]
19. Sarcoglycanopathies are responsible for 68% of severe autosomal recessive limb-girdle muscular dystrophy in the Brazilian population.
Vainzof M; Passos-Bueno MR; Pavanello RC; Marie SK; Oliveira AS; Zatz M
J Neurol Sci; 1999 Mar; 164(1):44-9. PubMed ID: 10385046
[TBL] [Abstract][Full Text] [Related]
20. Founder mutation for α-sarcoglycan-LGMD2D in a Magdalen Islands Acadian cluster.
Tétreault M; Srour M; Allyson J; Thiffault I; Loisel L; Robitaille Y; Bouchard JP; Brais B
Can J Neurol Sci; 2011 Sep; 38(5):747-52. PubMed ID: 21856579
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]