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 *

318 related articles for article (PubMed ID: 25430424)

  • 1. Identification of a novel nemaline myopathy-causing mutation in the troponin T1 (TNNT1) gene: a case outside of the old order Amish.
    Marra JD; Engelstad KE; Ankala A; Tanji K; Dastgir J; De Vivo DC; Coffee B; Chiriboga CA
    Muscle Nerve; 2015 May; 51(5):767-72. PubMed ID: 25430424
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 'Amish Nemaline Myopathy' in 2 Italian siblings harbouring a novel homozygous mutation in Troponin-I gene.
    D'Amico A; Fattori F; Fiorillo C; Paglietti MG; Testa MBC; Verardo M; Catteruccia M; Bruno C; Bertini E
    Neuromuscul Disord; 2019 Oct; 29(10):766-770. PubMed ID: 31604653
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Amish nemaline myopathy and dilated cardiomyopathy caused by a homozygous contiguous gene deletion of TNNT1 and TNNI3 in a Mennonite child.
    Streff H; Bi W; Colón AG; Adesina AM; Miyake CY; Lalani SR
    Eur J Med Genet; 2019 Nov; 62(11):103567. PubMed ID: 30395933
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Nemaline body myopathy caused by a novel mutation in troponin T1 (TNNT1).
    Abdulhaq UN; Daana M; Dor T; Fellig Y; Eylon S; Schuelke M; Shaag A; Elpeleg O; Edvardson S
    Muscle Nerve; 2016 Apr; 53(4):564-9. PubMed ID: 26296490
    [TBL] [Abstract][Full Text] [Related]  

  • 5. TNNT1 nemaline myopathy: natural history and therapeutic frontier.
    Fox MD; Carson VJ; Feng HZ; Lawlor MW; Gray JT; Brigatti KW; Jin JP; Strauss KA
    Hum Mol Genet; 2018 Sep; 27(18):3272-3282. PubMed ID: 29931346
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Novel autosomal dominant TNNT1 mutation causing nemaline myopathy.
    Konersman CG; Freyermuth F; Winder TL; Lawlor MW; Lagier-Tourenne C; Patel SB
    Mol Genet Genomic Med; 2017 Nov; 5(6):678-691. PubMed ID: 29178646
    [TBL] [Abstract][Full Text] [Related]  

  • 7. A novel nemaline myopathy in the Amish caused by a mutation in troponin T1.
    Johnston JJ; Kelley RI; Crawford TO; Morton DH; Agarwala R; Koch T; Schäffer AA; Francomano CA; Biesecker LG
    Am J Hum Genet; 2000 Oct; 67(4):814-21. PubMed ID: 10952871
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A rare TNNT1 gene variant causing creatine kinase elevation in nemaline myopathy: c.271_273del (p.Lys91del).
    Yavaş C; Doğan M; Eröz R; Türegün K
    Genes Genomics; 2024 May; 46(5):613-620. PubMed ID: 38363456
    [TBL] [Abstract][Full Text] [Related]  

  • 9. The loss of slow skeletal muscle isoform of troponin T in spindle intrafusal fibres explains the pathophysiology of Amish nemaline myopathy.
    Oki K; Wei B; Feng HZ; Jin JP
    J Physiol; 2019 Aug; 597(15):3999-4012. PubMed ID: 31148174
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Clinical phenotype and loss of the slow skeletal muscle troponin T in three new patients with recessive TNNT1 nemaline myopathy.
    Géraud J; Dieterich K; Rendu J; Uro Coste E; Dobrzynski M; Marcorelle P; Ioos C; Romero NB; Baudou E; Brocard J; Coville AC; Fauré J; Koenig M; Juntas Morales R; Lacène E; Madelaine A; Marty I; Pegeot H; Theze C; Siegfried A; Cossee M; Cances C
    J Med Genet; 2021 Sep; 58(9):602-608. PubMed ID: 32994279
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Exon skipping caused by splicing mutation in TNNT1 nemaline myopathy.
    Wang G; Zhao D; Yan C; Lin P
    J Hum Genet; 2023 Feb; 68(2):97-101. PubMed ID: 36446828
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Functional Basis of Three New Recessive Mutations of Slow Skeletal Muscle Troponin T Found in Non-Amish TNNT1 Nemaline Myopathies.
    Amarasinghe C; Hossain MM; Jin JP
    Biochemistry; 2016 Aug; 55(32):4560-7. PubMed ID: 27429059
    [TBL] [Abstract][Full Text] [Related]  

  • 13. TNNT1 myopathy with novel compound heterozygous mutations.
    Lee S; Eum J; Park S; Ki S; Hwang BJ; Kee Y; Chae JH
    Neuromuscul Disord; 2022 Feb; 32(2):176-184. PubMed ID: 35165004
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Novel TNNT1 mutation and mild nemaline myopathy phenotype in an Italian patient.
    Petrucci A; Primiano G; Savarese M; Sancricca C; Udd B; Servidei S
    Neuromuscul Disord; 2021 Jun; 31(6):532-538. PubMed ID: 33832840
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Troponin-T type 1 (TNNT1)-related nemaline myopathy: unique respiratory phenotype and muscle pathology findings.
    Zambon AA; Abel F; Linnane B; O'Rourke D; Phadke R; Sewry CA; Sarkozy A; Manzur A; Muntoni F
    Neuromuscul Disord; 2022 Mar; 32(3):245-254. PubMed ID: 35249790
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel Recessive TNNT1 Congenital Core-Rod Myopathy in French Canadians.
    Pellerin D; Aykanat A; Ellezam B; Troiano EC; Karamchandani J; Dicaire MJ; Petitclerc M; Robertson R; Allard-Chamard X; Brunet D; Konersman CG; Mathieu J; Warman Chardon J; Gupta VA; Beggs AH; Brais B; Chrestian N
    Ann Neurol; 2020 Apr; 87(4):568-583. PubMed ID: 31970803
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Autosomal dominant nemaline myopathy with intranuclear rods due to mutation of the skeletal muscle ACTA1 gene: clinical and pathological variability within a kindred.
    Hutchinson DO; Charlton A; Laing NG; Ilkovski B; North KN
    Neuromuscul Disord; 2006 Feb; 16(2):113-21. PubMed ID: 16427282
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Congenital myopathy with cap-like structures and nemaline rods: case report and literature review.
    Piteau SJ; Rossiter JP; Smith RG; MacKenzie JJ
    Pediatr Neurol; 2014 Aug; 51(2):192-7. PubMed ID: 25079567
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Clinical and Histologic Findings in ACTA1-Related Nemaline Myopathy: Case Series and Review of the Literature.
    Moreno CAM; Abath Neto O; Donkervoort S; Hu Y; Reed UC; Oliveira ASB; Bönnemann C; Zanoteli E
    Pediatr Neurol; 2017 Oct; 75():11-16. PubMed ID: 28780987
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A locus on chromosome 15q for a dominantly inherited nemaline myopathy with core-like lesions.
    Gommans IM; Davis M; Saar K; Lammens M; Mastaglia F; Lamont P; van Duijnhoven G; ter Laak HJ; Reis A; Vogels OJ; Laing N; van Engelen BG; Kremer H
    Brain; 2003 Jul; 126(Pt 7):1545-51. PubMed ID: 12805120
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 16.