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 *

143 related articles for article (PubMed ID: 23595177)

  • 1. 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]  

  • 2. [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]  

  • 3. 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]  

  • 4. 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]  

  • 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. 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]  

  • 8. 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]  

  • 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. [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]  

  • 11. 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]  

  • 12. 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]  

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

  • 14. Atypical keratosis pilaris-like lesions in a patient with Bethlem myopathy.
    Lee SS; Hinds B; Sprague J; Barrio VR; Mancuso JB
    Pediatr Dermatol; 2022 Mar; 39(2):309-311. PubMed ID: 34888914
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. 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]  

  • 17. 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]  

  • 18. 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]  

  • 19. Two novel COL6A3 mutations disrupt extracellular matrix formation and lead to myopathy from Ullrich congenital muscular dystrophy and Bethlem myopathy spectrum.
    Marakhonov AV; Tabakov VY; Zernov NV; Dadali EL; Sharkova IV; Skoblov MY
    Gene; 2018 Sep; 672():165-171. PubMed ID: 29894794
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 8.