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 *

123 related articles for article (PubMed ID: 38754040)

  • 1. A Mild But Typical Presentation of Bethlem Myopathy With a Novel In-Frame Deletion in
    Wilpert NM; Schuelke M; Lala B; Weiß C
    Neurology; 2024 Jun; 102(11):e209476. PubMed ID: 38754040
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. [Clinical and mutation analyses of a Chinese family with Bethlem myopathy].
    Yang HP; Zhang YZ; Ding J; Jiao H; Lü JL; Xiong H
    Zhonghua Yi Xue Za Zhi; 2012 Oct; 92(40):2820-4. PubMed ID: 23290209
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. Keloids, Spontaneous or After Minor Skin Injury: Importance of Not Missing Bethlem Myopathy.
    Echeverría C; Diaz A; Suarez B; Bevilacqua JA; Bonnemann C; Bertini E; Castiglioni C
    Acta Derm Venereol; 2017 Feb; 97(2):297-298. PubMed ID: 27563703
    [No Abstract]   [Full Text] [Related]  

  • 9. 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]  

  • 10. Detecting collagen VI in Bethlem myopathy.
    Sabatelli P; Gualandi F; Bonaldo P; Merlini L
    J Biol Chem; 2015 Mar; 290(12):8011. PubMed ID: 25795730
    [No Abstract]   [Full Text] [Related]  

  • 11. Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution.
    Deconinck N; Richard P; Allamand V; Behin A; Lafôret P; Ferreiro A; de Becdelievre A; Ledeuil C; Gartioux C; Nelson I; Carlier RY; Carlier P; Wahbi K; Romero N; Zabot MT; Bouhour F; Tiffreau V; Lacour A; Eymard B; Stojkovic T
    J Neurol Neurosurg Psychiatry; 2015 Dec; 86(12):1337-46. PubMed ID: 25535305
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Muscle MRI in Bethlem myopathy.
    Morrow JM; Pitceathly RD; Quinlivan RM; Yousry TA
    BMJ Case Rep; 2013 Apr; 2013():. PubMed ID: 23595177
    [No Abstract]   [Full Text] [Related]  

  • 13. Reply to Sabatelli et al.: Detecting collagen VI in Bethlem myopathy.
    Lamande SR
    J Biol Chem; 2015 Mar; 290(12):8012. PubMed ID: 25964954
    [No Abstract]   [Full Text] [Related]  

  • 14. Coexistence of digenic mutations in the collagen VI genes (COL6A1 and COL6A3) leads to Bethlem myopathy.
    Choi E; Shin S; Lee S; Lee SJ; Park J
    Clin Chim Acta; 2020 Sep; 508():28-32. PubMed ID: 32389683
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 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. [Bethlem myopathy: when the phenotype is misleading].
    Caldú-Agud R; Alfaro-Torres J; Rodríguez-Valle A; Capablo-Liesa JL
    Rev Neurol; 2020 Sep; 71(6):234-235. PubMed ID: 32895907
    [TBL] [Abstract][Full Text] [Related]  

  • 18. 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]  

  • 19. Intrafamilial Phenotypic Variability of Collagen VI-Related Myopathy Due to a New Mutation in the COL6A1 Gene.
    Bardakov SN; Deev RV; Magomedova RM; Umakhanova ZR; Allamand V; Gartioux C; Zulfugarov KZ; Akhmedova PG; Tsargush VA; Titova AA; Mavlikeev MO; Zorin VL; Chernets EN; Dalgatov GD; Konovalov FA; Isaev AA
    J Neuromuscul Dis; 2021; 8(2):273-285. PubMed ID: 33337382
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum.
    Cruz S; Figueroa-Bonaparte S; Gallardo E; de Becdelièvre A; Gartioux C; Allamand V; Piñol P; Garcia MA; Jiménez-Mallebriera C; Llauger J; González-Rodríguez L; Cortes-Vicente E; Illa I; Díaz-Manera J
    J Neuromuscul Dis; 2016 May; 3(2):267-274. PubMed ID: 27854213
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.