BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

142 related articles for article (PubMed ID: 38544966)

  • 21. Autosomal recessive inheritance of classic Bethlem myopathy.
    Foley AR; Hu Y; Zou Y; Columbus A; Shoffner J; Dunn DM; Weiss RB; Bönnemann CG
    Neuromuscul Disord; 2009 Dec; 19(12):813-7. PubMed ID: 19884007
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The collagen VI-related myopathies Ullrich congenital muscular dystrophy and Bethlem myopathy.
    Bönnemann CG
    Handb Clin Neurol; 2011; 101():81-96. PubMed ID: 21496625
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. 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]  

  • 25. Cyclosporine A treatment for Ullrich congenital muscular dystrophy: a cellular study of mitochondrial dysfunction and its rescue.
    Hicks D; Lampe AK; Laval SH; Allamand V; Jimenez-Mallebrera C; Walter MC; Muntoni F; Quijano-Roy S; Richard P; Straub V; Lochmüller H; Bushby KM
    Brain; 2009 Jan; 132(Pt 1):147-55. PubMed ID: 19015158
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Identification of a deep intronic mutation in the COL6A2 gene by a novel custom oligonucleotide CGH array designed to explore allelic and genetic heterogeneity in collagen VI-related myopathies.
    Bovolenta M; Neri M; Martoni E; Urciuolo A; Sabatelli P; Fabris M; Grumati P; Mercuri E; Bertini E; Merlini L; Bonaldo P; Ferlini A; Gualandi F
    BMC Med Genet; 2010 Mar; 11():44. PubMed ID: 20302629
    [TBL] [Abstract][Full Text] [Related]  

  • 27. 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]  

  • 28. Clinical, Pathologic, and Genetic Features of Collagen VI-Related Myopathy in Korea.
    Lee JH; Shin HY; Park HJ; Kim SH; Kim SM; Choi YC
    J Clin Neurol; 2017 Oct; 13(4):331-339. PubMed ID: 28831785
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Collagen VI-Related Myopathy Caused by Compound Heterozygous Mutations of COL6A3 in a Consanguineous Kurdish Family.
    Mihaylova V; Chablais F; Bremer J; Guggenberger R; Rushing EJ; Bethge T; Spiegel R; Jung HH
    J Clin Neuromuscul Dis; 2021 Mar; 22(3):173-179. PubMed ID: 33596003
    [TBL] [Abstract][Full Text] [Related]  

  • 30. [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]  

  • 31. 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]  

  • 32. 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]  

  • 33. Paternal germline mosaicism in collagen VI related myopathies.
    Armaroli A; Trabanelli C; Scotton C; Venturoli A; Selvatici R; Brisca G; Merlini L; Bruno C; Ferlini A; Gualandi F
    Eur J Paediatr Neurol; 2015 Sep; 19(5):533-6. PubMed ID: 25978941
    [TBL] [Abstract][Full Text] [Related]  

  • 34. 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]  

  • 35. Effects on collagen VI mRNA stability and microfibrillar assembly of three COL6A2 mutations in two families with Ullrich congenital muscular dystrophy.
    Zhang RZ; Sabatelli P; Pan TC; Squarzoni S; Mattioli E; Bertini E; Pepe G; Chu ML
    J Biol Chem; 2002 Nov; 277(46):43557-64. PubMed ID: 12218063
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel de novo COL6A1 mutation emphasizes the role of intron 14 donor splice site defects as a cause of moderate-progressive form of ColVI myopathy - a case report and review of the genotype-phenotype correlation.
    Koppolu AA; Madej-Pilarczyk A; Rydzanicz M; Kosińska J; Gasperowicz P; Dorszewska J; Kozubski W; Steinborn B; Kochański AM; Płoski R
    Folia Neuropathol; 2017; 55(3):214-220. PubMed ID: 28984114
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Collagen VI status and clinical severity in Ullrich congenital muscular dystrophy: phenotype analysis of 11 families linked to the COL6 loci.
    Demir E; Ferreiro A; Sabatelli P; Allamand V; Makri S; Echenne B; Maraldi M; Merlini L; Topaloglu H; Guicheney P
    Neuropediatrics; 2004 Apr; 35(2):103-12. PubMed ID: 15127309
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel variant of COL6A3 c.6817-2(IVS27)A>G causing Bethlem myopathy: A case report.
    Li M; Huang J; Liu M; Duan C; Guo H; Chen X; Wang Y
    Front Neurol; 2023; 14():1063090. PubMed ID: 36779064
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Collagen VI in the Musculoskeletal System.
    Di Martino A; Cescon M; D'Agostino C; Schilardi F; Sabatelli P; Merlini L; Faldini C
    Int J Mol Sci; 2023 Mar; 24(6):. PubMed ID: 36982167
    [TBL] [Abstract][Full Text] [Related]  

  • 40. 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]  

    [Previous]   [Next]    [New Search]
    of 8.