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 *

103 related articles for article (PubMed ID: 7669390)

  • 1. Minicores and congential fibre type disproportion observed in a family.
    Jongpiputvanich S; Walsh PJ; Kakulas BA
    J Paediatr Child Health; 1995 Jun; 31(3):253-7. PubMed ID: 7669390
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
    Lawlor MW; Dechene ET; Roumm E; Geggel AS; Moghadaszadeh B; Beggs AH
    Hum Mutat; 2010 Feb; 31(2):176-83. PubMed ID: 19953533
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Autosomal dominant congenital fibre type disproportion: a clinicopathological and imaging study of a large family.
    Sobrido MJ; Fernández JM; Fontoira E; Pérez-Sousa C; Cabello A; Castro M; Teijeira S; Alvarez S; Mederer S; Rivas E; Seijo-Martínez M; Navarro C
    Brain; 2005 Jul; 128(Pt 7):1716-27. PubMed ID: 15857933
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Combined cap disease and nemaline myopathy in the same patient caused by an autosomal dominant mutation in the TPM3 gene.
    Malfatti E; Schaeffer U; Chapon F; Yang Y; Eymard B; Xu R; Laporte J; Romero NB
    Neuromuscul Disord; 2013 Dec; 23(12):992-7. PubMed ID: 24095155
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nemaline myopathy with severe neonatal hypotonia and total ophthalmoplegia: a case report.
    Wilson MC; Kolsky MP; Chandra R
    J Pediatr Ophthalmol Strabismus; 1998; 35(3):174-6. PubMed ID: 9627881
    [No Abstract]   [Full Text] [Related]  

  • 6. [Nemaline myopathy as a cause of neonatal hypotonia - with emphasis on personal experiences. Report of a family with two brothers affected].
    Bojdo A; Obersztyn E; Wallgren-Pettersson C; Lehtokari V; Laing N; Davis M; Kułakowska Z
    Med Wieku Rozwoj; 2009; 13(1):5-10. PubMed ID: 19648653
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Nemaline myopathy type 2 (NEM2): two novel mutations in the nebulin (NEB) gene.
    Gajda A; Horváth E; Hortobágyi T; Gergev G; Szabó H; Farkas K; Nagy N; Széll M; Sztriha L
    J Child Neurol; 2015 Apr; 30(5):627-30. PubMed ID: 24056153
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Identification of a novel mutation in the
    Jabbarpour N; Poorshiri B; Saei H; Barzegar M; Bonyadi M
    J Genet; 2023; 102():. PubMed ID: 36823680
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in TPM3 are a common cause of congenital fiber type disproportion.
    Clarke NF; Kolski H; Dye DE; Lim E; Smith RL; Patel R; Fahey MC; Bellance R; Romero NB; Johnson ES; Labarre-Vila A; Monnier N; Laing NG; North KN
    Ann Neurol; 2008 Mar; 63(3):329-37. PubMed ID: 18300303
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Nemaline myopathies: State of the art.
    Malfatti E; Romero NB
    Rev Neurol (Paris); 2016 Oct; 172(10):614-619. PubMed ID: 27659899
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance.
    Jaffe M; Shapira J; Borochowitz Z
    Clin Genet; 1988 Jan; 33(1):33-7. PubMed ID: 3342545
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [A 34-year-old woman with delayed motor milestones, high arched palate, and proximal muscle weakness].
    Yamamoto T; Kitada T; Hirasawa E; Mori H; Mizuno Y
    No To Shinkei; 1996 Jul; 48(7):677-84. PubMed ID: 8753005
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Congenital fibre type disproportion a time-locked diagnosis: a clinical and morphological follow-up study.
    Bartholomeus MG; Gabreëls FJ; ter Laak HJ; van Engelen BG
    Clin Neurol Neurosurg; 2000 Jun; 102(2):97-101. PubMed ID: 10817896
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Congenital myopathy with nemaline rods and cap structures caused by a mutation in the beta-tropomyosin gene (TPM2).
    Tajsharghi H; Ohlsson M; Lindberg C; Oldfors A
    Arch Neurol; 2007 Sep; 64(9):1334-8. PubMed ID: 17846275
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital fiber type disproportion--30 years on.
    Clarke NF; North KN
    J Neuropathol Exp Neurol; 2003 Oct; 62(10):977-89. PubMed ID: 14575234
    [TBL] [Abstract][Full Text] [Related]  

  • 16. [Central core myopathy. A review of its complications].
    Cañete Estrada R; Sánchez Polaina R; Peña Amaro J; Suanes Cabello A; Ballesteros Ruiz C
    An Esp Pediatr; 1993 Sep; 39(3):257-9. PubMed ID: 8250444
    [No Abstract]   [Full Text] [Related]  

  • 17. A severe clinical and pathological variant of central core disease with possible autosomal recessive inheritance.
    Manzur AY; Sewry CA; Ziprin J; Dubowitz V; Muntoni F
    Neuromuscul Disord; 1998 Oct; 8(7):467-73. PubMed ID: 9829276
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The pathogenesis of ACTA1-related congenital fiber type disproportion.
    Clarke NF; Ilkovski B; Cooper S; Valova VA; Robinson PJ; Nonaka I; Feng JJ; Marston S; North K
    Ann Neurol; 2007 Jun; 61(6):552-61. PubMed ID: 17387733
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Actin mutations are one cause of congenital fibre type disproportion.
    Laing NG; Clarke NF; Dye DE; Liyanage K; Walker KR; Kobayashi Y; Shimakawa S; Hagiwara T; Ouvrier R; Sparrow JC; Nishino I; North KN; Nonaka I
    Ann Neurol; 2004 Nov; 56(5):689-94. PubMed ID: 15468086
    [TBL] [Abstract][Full Text] [Related]  

  • 20. An Overview of Congenital Myopathies.
    Mah JK; Joseph JT
    Continuum (Minneap Minn); 2016 Dec; 22(6, Muscle and Neuromuscular Junction Disorders):1932-1953. PubMed ID: 27922501
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.