155 related articles for article (PubMed ID: 38357257)
1. Molecular Diagnosis of Limb-Girdle Muscular Dystrophy Using Next-Generation Sequencing Panels.
Sarıkaya Uzan G; Yılmaz Uzman C; Çinleti T; Günay Ç; Ülgenalp A; Hız Kurul S; Yiş U
Mol Syndromol; 2024 Feb; 15(1):14-21. PubMed ID: 38357257
[TBL] [Abstract][Full Text] [Related]
2. Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
Özyilmaz B; Kirbiyik Ö; Özdemir TR; Kaya Özer Ö; Kutbay YB; Erdogan KM; Güvenç MS; Kale MY; Gazeteci H; Kiliç B; Sertpoyraz F; Diniz G; Baydan F; Gençpinar P; Dündar NO; Yiş U
Ann Hum Genet; 2019 Sep; 83(5):331-347. PubMed ID: 31066050
[TBL] [Abstract][Full Text] [Related]
3. Elucidation of the Genetic Cause in Dutch Limb Girdle Muscular Dystrophy Families: A 27-Year's Journey.
Ten Dam L; de Visser M; Ginjaar IB; van Duyvenvoorde HA; van Koningsbruggen S; van der Kooi AJ
J Neuromuscul Dis; 2021; 8(2):261-272. PubMed ID: 33386810
[TBL] [Abstract][Full Text] [Related]
4. Autosomal recessive limb-girdle and Miyoshi muscular dystrophies in the Netherlands: The clinical and molecular spectrum of 244 patients.
Ten Dam L; Frankhuizen WS; Linssen WHJP; Straathof CS; Niks EH; Faber K; Fock A; Kuks JB; Brusse E; de Coo R; Voermans N; Verrips A; Hoogendijk JE; van der Pol L; Westra D; de Visser M; van der Kooi AJ; Ginjaar I
Clin Genet; 2019 Aug; 96(2):126-133. PubMed ID: 30919934
[TBL] [Abstract][Full Text] [Related]
5. Defining Clinical Endpoints in Limb Girdle Muscular Dystrophy: A GRASP-LGMD study.
Doody A; Alfano L; Diaz-Manera J; Lowes L; Mozaffar T; Mathews K; Weihl CC; Wicklund M; Statland J; Johnson NE;
Res Sq; 2023 Oct; ():. PubMed ID: 37886601
[TBL] [Abstract][Full Text] [Related]
6. High diagnostic yield of targeted next-generation sequencing panel as a first-tier molecular test for the patients with myopathy or muscular dystrophy.
Çavdarlı B; Köken ÖY; Satılmış SBA; Bilen Ş; Ardıçlı D; Ceylan AC; Gündüz CNS; Topaloğlu H
Ann Hum Genet; 2023 May; 87(3):104-114. PubMed ID: 36575883
[TBL] [Abstract][Full Text] [Related]
7. The Latin American experience with a next generation sequencing genetic panel for recessive limb-girdle muscular weakness and Pompe disease.
Bevilacqua JA; Guecaimburu Ehuletche MDR; Perna A; Dubrovsky A; Franca MC; Vargas S; Hegde M; Claeys KG; Straub V; Daba N; Faria R; Periquet M; Sparks S; Thibault N; Araujo R
Orphanet J Rare Dis; 2020 Jan; 15(1):11. PubMed ID: 31931849
[TBL] [Abstract][Full Text] [Related]
8. Combined sequence and copy number analysis improves diagnosis of limb girdle and other myopathies.
Nallamilli BRR; Pan Y; Sniderman King L; Jagannathan L; Ramachander V; Lucas A; Markind J; Colzani R; Hegde M
Ann Clin Transl Neurol; 2023 Nov; 10(11):2092-2104. PubMed ID: 37688281
[TBL] [Abstract][Full Text] [Related]
9. Single-centre experience with autosomal recessive limb-girdle muscular dystrophy: case series and literature review.
Lorenzoni PJ; Kay CSK; Ducci RD; Fustes OJH; Rodrigues PRDVP; Hrysay NMC; Arndt RC; Werneck LC; Scola RH
Arq Neuropsiquiatr; 2023 Oct; 81(10):922-933. PubMed ID: 37852290
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. Expert Panel Curation of 31 Genes in Relation to Limb Girdle Muscular Dystrophy.
Mohan S; McNulty S; Thaxton C; Elnagheeb M; Owens E; Flowers M; Nunnery T; Self A; Palus B; Gorokhova S; Kennedy A; Niu Z; Johari M; Maiga AB; Macalalad K; Clause AR; Beckmann JS; Bronicki L; Cooper ST; Ganesh VS; Kang PB; Kesari A; Lek M; Levy J; Rufibach L; Savarese M; Spencer MJ; Straub V; Tasca G; Weihl CC
bioRxiv; 2024 May; ():. PubMed ID: 38765987
[TBL] [Abstract][Full Text] [Related]
12. Clinical features, imaging findings and molecular data of limb-girdle muscular dystrophies in a cohort of Chinese patients.
Lin F; Yang K; Lin X; Jin M; Chen L; Zheng FZ; Qiu LL; Ye ZX; Chen HZ; Lin MT; Wang N; Wang ZQ
Orphanet J Rare Dis; 2023 Nov; 18(1):356. PubMed ID: 37974208
[TBL] [Abstract][Full Text] [Related]
13. Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
Khan A; Wang R; Han S; Umair M; Abbas S; Khan MI; Alshabeeb MA; Alfadhel M; Zhang X
BMC Med Genet; 2019 Oct; 20(1):166. PubMed ID: 31664938
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. Genetic basis of limb-girdle muscular dystrophies: the 2014 update.
Nigro V; Savarese M
Acta Myol; 2014 May; 33(1):1-12. PubMed ID: 24843229
[TBL] [Abstract][Full Text] [Related]
17. Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.
Huang K; Li QX; Duan HQ; Luo YB; Bi FF; Yang H
Neurogenetics; 2022 Jan; 23(1):37-44. PubMed ID: 34982307
[TBL] [Abstract][Full Text] [Related]
18. Genetic landscape and novel disease mechanisms from a large LGMD cohort of 4656 patients.
Nallamilli BRR; Chakravorty S; Kesari A; Tanner A; Ankala A; Schneider T; da Silva C; Beadling R; Alexander JJ; Askree SH; Whitt Z; Bean L; Collins C; Khadilkar S; Gaitonde P; Dastur R; Wicklund M; Mozaffar T; Harms M; Rufibach L; Mittal P; Hegde M
Ann Clin Transl Neurol; 2018 Dec; 5(12):1574-1587. PubMed ID: 30564623
[TBL] [Abstract][Full Text] [Related]
19. The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.
Reddy HM; Cho KA; Lek M; Estrella E; Valkanas E; Jones MD; Mitsuhashi S; Darras BT; Amato AA; Lidov HG; Brownstein CA; Margulies DM; Yu TW; Salih MA; Kunkel LM; MacArthur DG; Kang PB
J Hum Genet; 2017 Feb; 62(2):243-252. PubMed ID: 27708273
[TBL] [Abstract][Full Text] [Related]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]