BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

412 related articles for article (PubMed ID: 18461503)

  • 21. Nemaline myopathy caused by mutations in the muscle alpha-skeletal-actin gene.
    Ilkovski B; Cooper ST; Nowak K; Ryan MM; Yang N; Schnell C; Durling HJ; Roddick LG; Wilkinson I; Kornberg AJ; Collins KJ; Wallace G; Gunning P; Hardeman EC; Laing NG; North KN
    Am J Hum Genet; 2001 Jun; 68(6):1333-43. PubMed ID: 11333380
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Mechanisms underlying intranuclear rod formation.
    Domazetovska A; Ilkovski B; Cooper ST; Ghoddusi M; Hardeman EC; Minamide LS; Gunning PW; Bamburg JR; North KN
    Brain; 2007 Dec; 130(Pt 12):3275-84. PubMed ID: 17928315
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Congenital myopathies: diseases of the actin cytoskeleton.
    Clarkson E; Costa CF; Machesky LM
    J Pathol; 2004 Nov; 204(4):407-17. PubMed ID: 15495263
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Mild phenotype of nemaline myopathy with sleep hypoventilation due to a mutation in the skeletal muscle alpha-actin (ACTA1) gene.
    Jungbluth H; Sewry CA; Brown SC; Nowak KJ; Laing NG; Wallgren-Pettersson C; Pelin K; Manzur AY; Mercuri E; Dubowitz V; Muntoni F
    Neuromuscul Disord; 2001 Jan; 11(1):35-40. PubMed ID: 11166164
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Magnetic resonance imaging of muscle in nemaline myopathy.
    Jungbluth H; Sewry CA; Counsell S; Allsop J; Chattopadhyay A; Mercuri E; North K; Laing N; Bydder G; Pelin K; Wallgren-Pettersson C; Muntoni F
    Neuromuscul Disord; 2004 Dec; 14(12):779-84. PubMed ID: 15564032
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Nemaline (actin) myopathy with myofibrillar dysgenesis and abnormal ossification.
    Arai A; Mitsuhashi S; Saito Y; Komaki H; Sakuma H; Nakagawa E; Sugai K; Sasaki M; Robertson SP; Nishimura G; Yamamoto T; Nonaka I; Nishino I
    Neuromuscul Disord; 2009 Jul; 19(7):485-8. PubMed ID: 19553121
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Hypertrophy and dietary tyrosine ameliorate the phenotypes of a mouse model of severe nemaline myopathy.
    Nguyen MA; Joya JE; Kee AJ; Domazetovska A; Yang N; Hook JW; Lemckert FA; Kettle E; Valova VA; Robinson PJ; North KN; Gunning PW; Mitchell CA; Hardeman EC
    Brain; 2011 Dec; 134(Pt 12):3516-29. PubMed ID: 22067542
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Biallelic Mutations in MYPN, Encoding Myopalladin, Are Associated with Childhood-Onset, Slowly Progressive Nemaline Myopathy.
    Miyatake S; Mitsuhashi S; Hayashi YK; Purevjav E; Nishikawa A; Koshimizu E; Suzuki M; Yatabe K; Tanaka Y; Ogata K; Kuru S; Shiina M; Tsurusaki Y; Nakashima M; Mizuguchi T; Miyake N; Saitsu H; Ogata K; Kawai M; Towbin J; Nonaka I; Nishino I; Matsumoto N
    Am J Hum Genet; 2017 Jan; 100(1):169-178. PubMed ID: 28017374
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Skeletal muscle α-actin diseases (actinopathies): pathology and mechanisms.
    Nowak KJ; Ravenscroft G; Laing NG
    Acta Neuropathol; 2013 Jan; 125(1):19-32. PubMed ID: 22825594
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Variable presentation of nemaline myopathy: novel mutation of alpha actin gene.
    Bouldin AA; Parisi MA; Laing N; Patterson K; Gospe SM
    Muscle Nerve; 2007 Feb; 35(2):254-8. PubMed ID: 16967490
    [TBL] [Abstract][Full Text] [Related]  

  • 31. 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]  

  • 32. 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]  

  • 33. Autosomal dominant distal myopathy with nemaline rods due to p.Glu197Asp mutation in ACTA1.
    Hernandez-Lain A; Cantero D; Camacho-Salas A; Toldos O; Esteban I; Pascual I; Dominguez-Gonzalez C
    Neuromuscul Disord; 2019 Mar; 29(3):247-250. PubMed ID: 30732915
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Gene-related protein surplus myopathies.
    Goebel HH; Warlo I
    Mol Genet Metab; 2000; 71(1-2):267-75. PubMed ID: 11001821
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Muscle magnetic resonance imaging and histopathology in ACTA1-related congenital nemaline myopathy.
    Castiglioni C; Cassandrini D; Fattori F; Bellacchio E; D'Amico A; Alvarez K; Gejman R; Diaz J; Santorelli FM; Romero NB; Bertini E; Bevilacqua JA
    Muscle Nerve; 2014 Dec; 50(6):1011-6. PubMed ID: 25088345
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Genotype-phenotype correlations in ACTA1 mutations that cause congenital myopathies.
    Feng JJ; Marston S
    Neuromuscul Disord; 2009 Jan; 19(1):6-16. PubMed ID: 18976909
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Congenital nemaline myopathy due to ACTA1-gene mutation and carnitine insufficiency: a case report.
    Buxmann H; Schlösser R; Schlote W; Sewell A; Nowak KJ; Laing NG; Loewenich V
    Neuropediatrics; 2001 Oct; 32(5):267-70. PubMed ID: 11748499
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Clinical course correlates poorly with muscle pathology in nemaline myopathy.
    Ryan MM; Ilkovski B; Strickland CD; Schnell C; Sanoudou D; Midgett C; Houston R; Muirhead D; Dennett X; Shield LK; De Girolami U; Iannaccone ST; Laing NG; North KN; Beggs AH
    Neurology; 2003 Feb; 60(4):665-73. PubMed ID: 12601110
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Nemaline myopathies.
    Wallgren-Pettersson C; Sewry CA; Nowak KJ; Laing NG
    Semin Pediatr Neurol; 2011 Dec; 18(4):230-8. PubMed ID: 22172418
    [TBL] [Abstract][Full Text] [Related]  

  • 40. A second pedigree with autosomal dominant nemaline myopathy caused by TPM3 mutation: a clinical and pathological study.
    Pénisson-Besnier I; Monnier N; Toutain A; Dubas F; Laing N
    Neuromuscul Disord; 2007 Apr; 17(4):330-7. PubMed ID: 17376686
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 21.