138 related articles for article (PubMed ID: 37706358)
1. Novel COL6A3 frameshift variant in American Staffordshire Terrier dogs with Ullrich-like congenital muscular dystrophy.
Jankelunas L; Murthy VD; Chen AV; Minor KM; Friedenberg SG; Cullen JN; Guo LT; Mickelson JR; Shelton GD
J Vet Intern Med; 2023; 37(6):2504-2509. PubMed ID: 37706358
[TBL] [Abstract][Full Text] [Related]
2. [Clinical manifestations and genetics analysis of collagen type Ⅵ-related myopathy caused by variants in COL6A3 gene].
Peng XY; Qu YJ; Song F; Sun XF; Ge XS; Jiao H
Zhonghua Er Ke Za Zhi; 2019 Feb; 57(2):136-141. PubMed ID: 30695889
[No Abstract] [Full Text] [Related]
3. Congenital muscular dystrophy in a dog with a LAMA2 gene deletion.
Shelton GD; Minor KM; Thomovsky S; Guo LT; Friedenberg SG; Cullen JN; Mickelson JR
J Vet Intern Med; 2022 Jan; 36(1):279-284. PubMed ID: 34854126
[TBL] [Abstract][Full Text] [Related]
4. Pathogenic variants in COL6A3 cause Ullrich-like congenital muscular dystrophy in young Labrador Retriever dogs.
Bolduc V; Minor KM; Hu Y; Kaur R; Friedenberg SG; Van Buren S; Guo LT; Glennon JC; Marioni-Henry K; Mickelson JR; Bönnemann CG; Shelton GD
Neuromuscul Disord; 2020 May; 30(5):360-367. PubMed ID: 32439203
[TBL] [Abstract][Full Text] [Related]
5. A novel variant in the COL6A1 gene causing Ullrich congenital muscular dystrophy in a consanguineous family: a case report.
Sirisena ND; Samaranayake UMJE; Neto OLA; Foley AR; Pathirana BAPS; Neththikumara N; Paththinige CS; Rathnayake P; Donkervoort S; Bönnemann CG; Dissanayake VHW
BMC Neurol; 2021 Mar; 21(1):105. PubMed ID: 33750322
[TBL] [Abstract][Full Text] [Related]
6. A Nonsense Variant in COL6A1 in Landseer Dogs with Muscular Dystrophy.
Steffen F; Bilzer T; Brands J; Golini L; Jagannathan V; Wiedmer M; Drögemüller M; Drögemüller C; Leeb T
G3 (Bethesda); 2015 Oct; 5(12):2611-7. PubMed ID: 26438297
[TBL] [Abstract][Full Text] [Related]
7. Homozygous splice variant (c.1741-6G>A) of the COL6A1 gene in three patients with Ullrich congenital muscular dystrophy.
Barington M; Dunø M; Birkedal U; Vissing J; Born AP; Krag T; Hansen TVO; Østergaard E
Neuromuscul Disord; 2023 Jul; 33(7):539-545. PubMed ID: 37315421
[TBL] [Abstract][Full Text] [Related]
8. Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies.
Villar-Quiles RN; Donkervoort S; de Becdelièvre A; Gartioux C; Jobic V; Foley AR; McCarty RM; Hu Y; Menassa R; Michel L; Gousse G; Lacour A; Petiot P; Streichenberger N; Choumert A; Declerck L; Urtizberea JA; Sole G; Furby A; Cérino M; Krahn M; Campana-Salort E; Ferreiro A; Eymard B; Bönnemann CG; Bharucha-Goebel D; Sumner CJ; Connolly AM; Richard P; Allamand V; Métay C; Stojkovic T
J Neuromuscul Dis; 2021; 8(4):633-645. PubMed ID: 33749658
[TBL] [Abstract][Full Text] [Related]
9. Autosomal dominant Ullrich congenital muscular dystrophy due to a
Picillo E; Torella A; Passamano L; Nigro V; Politano L
Acta Myol; 2022 Jun; 41(2):95-98. PubMed ID: 35832501
[TBL] [Abstract][Full Text] [Related]
10. COL6A1 related muscular dystrophy in Landseer dogs: A canine model for Ullrich congenital muscular dystrophy.
Brands J; Steffen F; Spennes J; Leeb T; Bilzer T
Muscle Nerve; 2021 Apr; 63(4):608-616. PubMed ID: 33382107
[TBL] [Abstract][Full Text] [Related]
11.
Christen M; Indzhova V; Guo LT; Jagannathan V; Leeb T; Shelton GD; Brocal J
Genes (Basel); 2021 Nov; 12(11):. PubMed ID: 34828429
[TBL] [Abstract][Full Text] [Related]
12. A de novo mutation in the EXT2 gene associated with osteochondromatosis in a litter of American Staffordshire Terriers.
Friedenberg SG; Vansteenkiste D; Yost O; Treeful AE; Meurs KM; Tokarz DA; Olby NJ
J Vet Intern Med; 2018 May; 32(3):986-992. PubMed ID: 29485212
[TBL] [Abstract][Full Text] [Related]
13. Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.
Marakhonov AV; Tabakov VY; Zernov NV; Dadali EL; Sharkova IV; Skoblov MY
Gene; 2018 Sep; 672():165-171. PubMed ID: 29894794
[TBL] [Abstract][Full Text] [Related]
14. Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophy.
Demir E; Sabatelli P; Allamand V; Ferreiro A; Moghadaszadeh B; Makrelouf M; Topaloglu H; Echenne B; Merlini L; Guicheney P
Am J Hum Genet; 2002 Jun; 70(6):1446-58. PubMed ID: 11992252
[TBL] [Abstract][Full Text] [Related]
15. Whole Genome Sequencing Indicates Heterogeneity of Hyperostotic Disorders in Dogs.
Letko A; Leuthard F; Jagannathan V; Corlazzoli D; Matiasek K; Schweizer D; Hytönen MK; Lohi H; Leeb T; Drögemüller C
Genes (Basel); 2020 Feb; 11(2):. PubMed ID: 32033218
[TBL] [Abstract][Full Text] [Related]
16. Late-onset Becker-type muscular dystrophy in a Border terrier dog.
Jeandel A; Garosi LS; Davies L; Guo LT; Salgüero R; Shelton GD
J Small Anim Pract; 2019 Aug; 60(8):514-517. PubMed ID: 29377139
[TBL] [Abstract][Full Text] [Related]
17. Sarcoglycan A mutation in miniature dachshund dogs causes limb-girdle muscular dystrophy 2D.
Mickelson JR; Minor KM; Guo LT; Friedenberg SG; Cullen JN; Ciavarella A; Hambrook LE; Brenner KM; Helmond SE; Marks SL; Shelton GD
Skelet Muscle; 2021 Jan; 11(1):2. PubMed ID: 33407862
[TBL] [Abstract][Full Text] [Related]
18. Autosomal recessive Bethlem myopathy: A clinical, genetic and functional study.
Caria F; Cescon M; Gualandi F; Pichiecchio A; Rossi R; Rimessi P; Cotti Piccinelli S; Gallo Cassarino S; Gregorio I; Galvagni A; Ferlini A; Padovani A; Bonaldo P; Filosto M
Neuromuscul Disord; 2019 Sep; 29(9):657-663. PubMed ID: 31471117
[TBL] [Abstract][Full Text] [Related]
19. Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
Panadés-de Oliveira L; Rodríguez-López C; Cantero Montenegro D; Marcos Toledano MDM; Fernández-Marmiesse A; Esteban Pérez J; Hernández Lain A; Domínguez-González C
J Neurol; 2019 Apr; 266(4):934-941. PubMed ID: 30706156
[TBL] [Abstract][Full Text] [Related]
20. Dystrophin-Deficient Muscular Dystrophy in Two Male Juvenile Brittanys.
Stevens R; Kanazono S; Petesch S; Guo LT; Shelton GD
J Am Anim Hosp Assoc; 2022 Nov; 58(6):292-296. PubMed ID: 36315862
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
