212 related articles for article (PubMed ID: 35075722)
21. Missense mutation of c.635 T > C in CAPN3 impairs muscle injury repair in a Limb-Girdel Muscular Dystropy Model.
Ma HS; Gong XL; Li WX; Cai Q; Chen YW; Guo XB; Ren ZR; Zeng F; Yan JB
Clin Genet; 2023 Jun; 103(6):663-671. PubMed ID: 36999564
[TBL] [Abstract][Full Text] [Related]
22. Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.
Reddy HM; Hamed SA; Lek M; Mitsuhashi S; Estrella E; Jones MD; Mahoney LJ; Duncan AR; Cho KA; Macarthur DG; Kunkel LM; Kang PB
Muscle Nerve; 2016 Oct; 54(4):690-5. PubMed ID: 26934379
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Severe adolescent-onset limb-girdle muscular dystrophy due to a novel homozygous nonsense BVES variant.
Beecher G; Tang C; Liewluck T
J Neurol Sci; 2021 Jan; 420():117259. PubMed ID: 33310206
[No Abstract] [Full Text] [Related]
25. A novel pathogenic variant in TNPO3 in a Hungarian family with limb-girdle muscular dystrophy 1F.
Pál E; Zima J; Hadzsiev K; Ito YA; Hartley T; ; Boycott KM; Melegh B
Eur J Med Genet; 2019 Jul; 62(7):103662. PubMed ID: 31071488
[TBL] [Abstract][Full Text] [Related]
26. Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
Chen YL; Wu WB; Wang P; Yip PK; Wu YN; Lin YH; Lin WN
Physiol Rep; 2023 Dec; 11(24):e15887. PubMed ID: 38110300
[TBL] [Abstract][Full Text] [Related]
27. 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]
28. 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]
29. Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.
Dai Y; Liang S; Dong X; Zhao Y; Ren H; Guan Y; Yin H; Li C; Chen L; Cui L; Banerjee S
J Cell Mol Med; 2019 Feb; 23(2):811-818. PubMed ID: 30450679
[TBL] [Abstract][Full Text] [Related]
30. The Transition from Gastric Intestinal Metaplasia to Gastric Cancer Involves
Gingold-Belfer R; Kessler-Icekson G; Morgenstern S; Rath-Wolfson L; Zemel R; Boltin D; Levi Z; Herman-Edelstein M
Int J Mol Sci; 2021 May; 22(10):. PubMed ID: 34069715
[TBL] [Abstract][Full Text] [Related]
31. The Role of POPDC Proteins in Cardiac Pacemaking and Conduction.
Gruscheski L; Brand T
J Cardiovasc Dev Dis; 2021 Nov; 8(12):. PubMed ID: 34940515
[TBL] [Abstract][Full Text] [Related]
32. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
Polavarapu K; Mathur A; Joshi A; Nashi S; Preethish-Kumar V; Bardhan M; Sharma P; Parveen S; Seth M; Vengalil S; Chawla T; Shingavi L; Shamim U; Nayak S; Vivekanand A; Töpf A; Roos A; Horvath R; Lochmüller H; Nandeesh B; Arunachal G; Nalini A; Faruq M
Neurogenetics; 2021 Oct; 22(4):271-285. PubMed ID: 34333724
[TBL] [Abstract][Full Text] [Related]
33. Novel Homozygous Missense Mutation in CAPN3 Gene Detected in a Saudi Arabian Family With Limb-Girdle Muscular Dystrophy Type 2A.
Al-Harbi TM; Abdulmanaʼ SO; Dridi W
J Clin Neuromuscul Dis; 2016 Dec; 18(2):89-91. PubMed ID: 27861222
[TBL] [Abstract][Full Text] [Related]
34. Diagnosis and genetic testing analysis of limb-girdle muscular dystrophy type 2U caused by a compound heterozygous mutation in the
Huang J; Miao WH; Guo XF; Ji W
Yi Chuan; 2023 Jun; 45(6):536-542. PubMed ID: 37340967
[TBL] [Abstract][Full Text] [Related]
35. Differential effects of mutations of POPDC proteins on heteromeric interaction and membrane trafficking.
Swan AH; Schindler RFR; Savarese M; Mayer I; Rinné S; Bleser F; Schänzer A; Hahn A; Sabatelli M; Perna F; Chapman K; Pfuhl M; Spivey AC; Decher N; Udd B; Tasca G; Brand T
Acta Neuropathol Commun; 2023 Jan; 11(1):4. PubMed ID: 36624536
[TBL] [Abstract][Full Text] [Related]
36.
Younus M; Ahmad F; Malik E; Bilal M; Kausar M; Abbas S; Shaheen S; Kakar MU; Alfadhel M; Umair M
Front Genet; 2018; 9():727. PubMed ID: 30733730
[No Abstract] [Full Text] [Related]
37. Recessive TRAPPC11 mutations cause a disease spectrum of limb girdle muscular dystrophy and myopathy with movement disorder and intellectual disability.
Bögershausen N; Shahrzad N; Chong JX; von Kleist-Retzow JC; Stanga D; Li Y; Bernier FP; Loucks CM; Wirth R; Puffenberger EG; Hegele RA; Schreml J; Lapointe G; Keupp K; Brett CL; Anderson R; Hahn A; Innes AM; Suchowersky O; Mets MB; Nürnberg G; McLeod DR; Thiele H; Waggoner D; Altmüller J; Boycott KM; Schoser B; Nürnberg P; Ober C; Heller R; Parboosingh JS; Wollnik B; Sacher M; Lamont RE
Am J Hum Genet; 2013 Jul; 93(1):181-90. PubMed ID: 23830518
[TBL] [Abstract][Full Text] [Related]
38. New kids on the block: The Popeye domain containing (POPDC) protein family acting as a novel class of cAMP effector proteins in striated muscle.
Brand T; Schindler R
Cell Signal; 2017 Dec; 40():156-165. PubMed ID: 28939104
[TBL] [Abstract][Full Text] [Related]
39. Validation of the North Star Assessment for Limb-Girdle Type Muscular Dystrophies.
James MK; Alfano LN; Muni-Lofra R; Reash NF; Sodhi J; Iammarino MA; Moat D; Shannon K; McCallum M; Richardson M; Eagle M; Straub V; Marini-Bettolo C; Lowes LP; Mayhew AG
Phys Ther; 2022 Oct; 102(10):. PubMed ID: 35932452
[TBL] [Abstract][Full Text] [Related]
40. A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family.
Baranello G; Saredi S; Sansanelli S; Savadori P; Canioni E; Chiapparini L; Balestri P; Malandrini A; Arnoldi MT; Pantaleoni C; Morandi L; Mora M
Neuromuscul Disord; 2015 Jan; 25(1):55-9. PubMed ID: 25444434
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
