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 *

137 related articles for article (PubMed ID: 27421963)

  • 1. Facial weakness and eyelid ptosis: Expanding the clinical heterogeneity of Bethlem myopathy from a novel gene mutation.
    Huynh W; Davis MR
    Muscle Nerve; 2017 Jan; 55(1):E2-E3. PubMed ID: 27421963
    [No Abstract]   [Full Text] [Related]  

  • 2. 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]  

  • 3. [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]  

  • 4. 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]  

  • 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. 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]  

  • 7. Clinical Reasoning: A 58-year-old man with progressive ptosis and walking difficulty.
    Kuo PH; Lo RY; Tanji K; Kuo SH
    Neurology; 2017 Jul; 89(1):e1-e5. PubMed ID: 28674165
    [No Abstract]   [Full Text] [Related]  

  • 8. Spontaneous keloid formation in patients with Bethlem myopathy.
    Collins J; Foley AR; Straub V; Bönnemann CG
    Neurology; 2012 Nov; 79(21):2158. PubMed ID: 23170014
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures.
    Jöbsis GJ; Boers JM; Barth PG; de Visser M
    Brain; 1999 Apr; 122 ( Pt 4)():649-55. PubMed ID: 10219778
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Progressive cardiac dysfunction in Bethlem myopathy during pregnancy.
    Flöck A; Kornblum C; Hammerstingl C; Claeys KG; Gembruch U; Merz WM
    Obstet Gynecol; 2014 Feb; 123(2 Pt 2 Suppl 2):436-438. PubMed ID: 24413245
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Oculopharyngeal muscular dystrophy.
    Brais B; Rouleau GA; Bouchard JP; Fardeau M; Tomé FM
    Semin Neurol; 1999; 19(1):59-66. PubMed ID: 10711989
    [TBL] [Abstract][Full Text] [Related]  

  • 13. 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]  

  • 14. 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]  

  • 15. Differential diagnosis of congenital muscular dystrophies.
    Klein A; Clement E; Mercuri E; Muntoni F
    Eur J Paediatr Neurol; 2008 Sep; 12(5):371-7. PubMed ID: 18588847
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. A novel mutation in the LMNA gene causes congenital muscular dystrophy with dropped head and brain involvement.
    Hattori A; Komaki H; Kawatani M; Sakuma H; Saito Y; Nakagawa E; Sugai K; Sasaki M; Hayashi YK; Nonaka I; Nishino I
    Neuromuscul Disord; 2012 Feb; 22(2):149-51. PubMed ID: 22240398
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Descending ocular myopathy].
    Finkel N; Vaz Ribeiro AR; Sampaio MC
    Arq Neuropsiquiatr; 1972 Jun; 30(2):148-57. PubMed ID: 5045944
    [No Abstract]   [Full Text] [Related]  

  • 19. [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]  

  • 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]
    of 7.