174 related articles for article (PubMed ID: 36982625)
1. Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes.
Zanotti S; Magri F; Salani S; Napoli L; Ripolone M; Ronchi D; Fortunato F; Ciscato P; Velardo D; D'Angelo MG; Gualandi F; Nigro V; Sciacco M; Corti S; Comi GP; Piga D
Int J Mol Sci; 2023 Mar; 24(6):. PubMed ID: 36982625
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Automated genomic sequence analysis of the three collagen VI genes: applications to Ullrich congenital muscular dystrophy and Bethlem myopathy.
Lampe AK; Dunn DM; von Niederhausern AC; Hamil C; Aoyagi A; Laval SH; Marie SK; Chu ML; Swoboda K; Muntoni F; Bonnemann CG; Flanigan KM; Bushby KM; Weiss RB
J Med Genet; 2005 Feb; 42(2):108-20. PubMed ID: 15689448
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. A mouse model for dominant collagen VI disorders: heterozygous deletion of Col6a3 Exon 16.
Pan TC; Zhang RZ; Arita M; Bogdanovich S; Adams SM; Gara SK; Wagener R; Khurana TS; Birk DE; Chu ML
J Biol Chem; 2014 Apr; 289(15):10293-10307. PubMed ID: 24563484
[TBL] [Abstract][Full Text] [Related]
6. Somatic mosaicism represents an underestimated event underlying collagen 6-related disorders.
D'Amico A; Fattori F; Tasca G; Petrini S; Gualandi F; Bruselles A; D'Oria V; Verardo M; Carrozzo R; Niceta M; Udd B; Ferlini A; Tartaglia M; Bertini E
Eur J Paediatr Neurol; 2017 Nov; 21(6):873-883. PubMed ID: 28760337
[TBL] [Abstract][Full Text] [Related]
7. Lower Extremity Muscle Involvement in the Intermediate and Bethlem Myopathy Forms of COL6-Related Dystrophy and Duchenne Muscular Dystrophy: A Cross-Sectional Study.
Batra A; Lott DJ; Willcocks R; Forbes SC; Triplett W; Dastgir J; Yun P; Reghan Foley A; Bönnemann CG; Vandenborne K; Walter GA
J Neuromuscul Dis; 2020; 7(4):407-417. PubMed ID: 32538860
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. Retrospective clinical and genetic analysis of COL6-RD patients with a long-term follow-up at a single French center.
Morel V; Audic F; Tardy C; Verschueren A; Attarian S; Nguyen K; Salort-Campana E; Krahn M; Chabrol B; Gorokhova S
Front Genet; 2023; 14():1242277. PubMed ID: 38155714
[TBL] [Abstract][Full Text] [Related]
10. Collagen VI-related myopathies: clinical variability, phenotype-genotype correlation and exploratory transcriptome study.
Kwong AK; Zhang Y; Ho RS; Gao Y; Ling X; Tsang MH; Luk HM; Chung BH; Bönnemann CG; Javed A; Chan SH
Neuromuscul Disord; 2023 May; 33(5):371-381. PubMed ID: 37023487
[TBL] [Abstract][Full Text] [Related]
11. Collagen VI disorders: Insights on form and function in the extracellular matrix and beyond.
Lamandé SR; Bateman JF
Matrix Biol; 2018 Oct; 71-72():348-367. PubMed ID: 29277723
[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. Dominant collagen VI mutations are a common cause of Ullrich congenital muscular dystrophy.
Baker NL; Mörgelin M; Peat R; Goemans N; North KN; Bateman JF; Lamandé SR
Hum Mol Genet; 2005 Jan; 14(2):279-93. PubMed ID: 15563506
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Detection of common and private mutations in the COL6A1 gene of patients with Bethlem myopathy.
Lucioli S; Giusti B; Mercuri E; Vanegas OC; Lucarini L; Pietroni V; Urtizberea A; Ben Yaou R; de Visser M; van der Kooi AJ; Bönnemann C; Iannaccone ST; Merlini L; Bushby K; Muntoni F; Bertini E; Chu ML; Pepe G
Neurology; 2005 Jun; 64(11):1931-7. PubMed ID: 15955946
[TBL] [Abstract][Full Text] [Related]
16. Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy.
Giusti B; Lucarini L; Pietroni V; Lucioli S; Bandinelli B; Sabatelli P; Squarzoni S; Petrini S; Gartioux C; Talim B; Roelens F; Merlini L; Topaloglu H; Bertini E; Guicheney P; Pepe G
Ann Neurol; 2005 Sep; 58(3):400-10. PubMed ID: 16130093
[TBL] [Abstract][Full Text] [Related]
17. Diminished binding of mutated collagen VI to the extracellular matrix surrounding myocytes.
Kawahara G; Ogawa M; Okada M; Malicdan MC; Goto Y; Hayashi YK; Noguchi S; Nishino I
Muscle Nerve; 2008 Sep; 38(3):1192-5. PubMed ID: 18642359
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Collagen VI-related myopathy: Expanding the clinical and genetic spectrum.
Kim SY; Kim WJ; Kim H; Choi SA; Lee JS; Cho A; Jang SS; Lim BC; Kim KJ; Kim JI; Hahn SH; Chae JH
Muscle Nerve; 2018 Sep; 58(3):381-388. PubMed ID: 29406609
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
