262 related articles for article (PubMed ID: 29894794)
1. 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]
2. 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]
3. [Collagen VI-related muscle disorders].
Higuchi I
Brain Nerve; 2011 Nov; 63(11):1169-78. PubMed ID: 22068469
[TBL] [Abstract][Full Text] [Related]
4. Transcriptome profiling identifies regulators of pathogenesis in collagen VI related muscular dystrophy.
Butterfield RJ; Dunn DM; Hu Y; Johnson K; Bönnemann CG; Weiss RB
PLoS One; 2017; 12(12):e0189664. PubMed ID: 29244830
[TBL] [Abstract][Full Text] [Related]
5. Collagen type VI myopathies.
Bushby KM; Collins J; Hicks D
Adv Exp Med Biol; 2014; 802():185-99. PubMed ID: 24443028
[TBL] [Abstract][Full Text] [Related]
6. [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]
7. Aberrant mitochondria in a Bethlem myopathy patient with a homozygous amino acid substitution that destabilizes the collagen VI α2(VI) chain.
Zamurs LK; Idoate MA; Hanssen E; Gomez-Ibañez A; Pastor P; Lamandé SR
J Biol Chem; 2015 Feb; 290(7):4272-81. PubMed ID: 25533456
[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. 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]
10. 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]
11. Bethlem myopathy in a Portuguese patient - case report.
Martins AI; Maarque C; Pinto-Basto J; Negrão L
Acta Myol; 2017 Sep; 36(3):178-181. PubMed ID: 29774307
[TBL] [Abstract][Full Text] [Related]
12. Mosaicism for dominant collagen 6 mutations as a cause for intrafamilial phenotypic variability.
Donkervoort S; Hu Y; Stojkovic T; Voermans NC; Foley AR; Leach ME; Dastgir J; Bolduc V; Cullup T; de Becdelièvre A; Yang L; Su H; Meilleur K; Schindler AB; Kamsteeg EJ; Richard P; Butterfield RJ; Winder TL; Crawford TO; Weiss RB; Muntoni F; Allamand V; Bönnemann CG
Hum Mutat; 2015 Jan; 36(1):48-56. PubMed ID: 25204870
[TBL] [Abstract][Full Text] [Related]
13. Collagen VI-related limb-girdle syndrome caused by frequent mutation in COL6A3 gene with conflicting reports of pathogenicity.
Stavusis J; Micule I; Wright NT; Straub V; Topf A; Panadés-de Oliveira L; Domínguez-González C; Inashkina I; Kidere D; Chrestian N; Lace B
Neuromuscul Disord; 2020 Jun; 30(6):483-491. PubMed ID: 32448721
[TBL] [Abstract][Full Text] [Related]
14. Tendon Extracellular Matrix Remodeling and Defective Cell Polarization in the Presence of Collagen VI Mutations.
Antoniel M; Traina F; Merlini L; Andrenacci D; Tigani D; Santi S; Cenni V; Sabatelli P; Faldini C; Squarzoni S
Cells; 2020 Feb; 9(2):. PubMed ID: 32053901
[TBL] [Abstract][Full Text] [Related]
15. Clinical features of collagen VI-related dystrophies: A large Brazilian cohort.
Zanoteli E; Soares PS; Silva AMSD; Camelo CG; Fonseca ATQSM; Albuquerque MAV; Moreno CAM; Lopes Abath Neto O; Novo Filho GM; Kulikowski LD; Reed UC
Clin Neurol Neurosurg; 2020 May; 192():105734. PubMed ID: 32065942
[TBL] [Abstract][Full Text] [Related]
16. New molecular mechanism for Ullrich congenital muscular dystrophy: a heterozygous in-frame deletion in the COL6A1 gene causes a severe phenotype.
Pan TC; Zhang RZ; Sudano DG; Marie SK; Bönnemann CG; Chu ML
Am J Hum Genet; 2003 Aug; 73(2):355-69. PubMed ID: 12840783
[TBL] [Abstract][Full Text] [Related]
17. [Study of a Bethlem myopathy pedigree resulted from a novel mutation of COL6A3 gene].
Cao W; Zhang Y; Zhong C; Lu G; Tan Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2014 Dec; 31(6):698-702. PubMed ID: 25449070
[TBL] [Abstract][Full Text] [Related]
18. COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report.
Bao M; Mao F; Zhao Z; Ma G; Xu G; Xu W; Chen H; Zhu M
BMC Neurol; 2019 Feb; 19(1):32. PubMed ID: 30808312
[TBL] [Abstract][Full Text] [Related]
19. [Collagenopathy (Ullrich congenital muscular dystrophy, Bethlem myopathy)].
Higuchi I
Rinsho Shinkeigaku; 2005 Nov; 45(11):935-7. PubMed ID: 16447767
[TBL] [Abstract][Full Text] [Related]
20. [Collagen VI related myopathies. When to suspect, how to identify. The contribution of muscle magnetic resonance].
Suárez B; Lozano-Arango A; Araneda D; Cortés F; Hervias C; Calcagno G; Ortega X; Castiglioni C
Rev Chil Pediatr; 2018 Jun; 89(3):399-408. PubMed ID: 29999148
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]