These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

374 related articles for article (PubMed ID: 21496625)

  • 1. 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]  

  • 2. [Collagen VI-related muscle disorders].
    Higuchi I
    Brain Nerve; 2011 Nov; 63(11):1169-78. PubMed ID: 22068469
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance.
    Lampe AK; Zou Y; Sudano D; O'Brien KK; Hicks D; Laval SH; Charlton R; Jimenez-Mallebrera C; Zhang RZ; Finkel RS; Tennekoon G; Schreiber G; van der Knaap MS; Marks H; Straub V; Flanigan KM; Chu ML; Muntoni F; Bushby KM; Bönnemann CG
    Hum Mutat; 2008 Jun; 29(6):809-22. PubMed ID: 18366090
    [TBL] [Abstract][Full Text] [Related]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Collagen VI related muscle disorders.
    Lampe AK; Bushby KM
    J Med Genet; 2005 Sep; 42(9):673-85. PubMed ID: 16141002
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. 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]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Ullrich congenital muscular dystrophy and Bethlem myopathy: clinical and genetic heterogeneity.
    Reed UC; Ferreira LG; Liu EC; Resende MB; Carvalho MS; Marie SK; Scaff M
    Arq Neuropsiquiatr; 2005 Sep; 63(3B):785-90. PubMed ID: 16258657
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 19.