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 *

142 related articles for article (PubMed ID: 35249790)

  • 41. Zebrafish models for nemaline myopathy reveal a spectrum of nemaline bodies contributing to reduced muscle function.
    Sztal TE; Zhao M; Williams C; Oorschot V; Parslow AC; Giousoh A; Yuen M; Hall TE; Costin A; Ramm G; Bird PI; Busch-Nentwich EM; Stemple DL; Currie PD; Cooper ST; Laing NG; Nowak KJ; Bryson-Richardson RJ
    Acta Neuropathol; 2015 Sep; 130(3):389-406. PubMed ID: 25931053
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Truncation by Glu180 nonsense mutation results in complete loss of slow skeletal muscle troponin T in a lethal nemaline myopathy.
    Jin JP; Brotto MA; Hossain MM; Huang QQ; Brotto LS; Nosek TM; Morton DH; Crawford TO
    J Biol Chem; 2003 Jul; 278(28):26159-65. PubMed ID: 12732643
    [TBL] [Abstract][Full Text] [Related]  

  • 43. 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]  

  • 44. Muscle weakness in respiratory and peripheral skeletal muscles in a mouse model for nebulin-based nemaline myopathy.
    Joureau B; de Winter JM; Stam K; Granzier H; Ottenheijm CA
    Neuromuscul Disord; 2017 Jan; 27(1):83-89. PubMed ID: 27890461
    [TBL] [Abstract][Full Text] [Related]  

  • 45. 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]  

  • 46. 68-year old man with progressive weakness and ventilator dependent respiratory failure: a case report of sporadic late onset nemaline myopathy.
    Kirupaharan P; Kramer D; Gandler A; Kenyon L; Summer R
    BMC Pulm Med; 2022 Mar; 22(1):97. PubMed ID: 35305606
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Follow-up of nemaline myopathy in two patients with novel mutations in the skeletal muscle alpha-actin gene (ACTA1).
    Ohlsson M; Tajsharghi H; Darin N; Kyllerman M; Oldfors A
    Neuromuscul Disord; 2004 Sep; 14(8-9):471-5. PubMed ID: 15336687
    [TBL] [Abstract][Full Text] [Related]  

  • 48. 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]  

  • 49. Acute and chronic tirasemtiv treatment improves in vivo and in vitro muscle performance in actin-based nemaline myopathy mice.
    de Winter JM; Gineste C; Minardi E; Brocca L; Rossi M; Borsboom T; Beggs AH; Bernard M; Bendahan D; Hwee DT; Malik FI; Pellegrino MA; Bottinelli R; Gondin J; Ottenheijm CAC
    Hum Mol Genet; 2021 Jun; 30(14):1305-1320. PubMed ID: 33909041
    [TBL] [Abstract][Full Text] [Related]  

  • 50. [Two cases of nemaline myopathy presenting with hypertrophy of distal limbs with prominent asymmetry].
    Mizuno Y; Mori-Yoshimura M; Oya Y; Nishikawa A; Nishino I; Takahashi Y
    Rinsho Shinkeigaku; 2017 Nov; 57(11):691-697. PubMed ID: 29070751
    [TBL] [Abstract][Full Text] [Related]  

  • 51. KLHL40-related nemaline myopathy with a sustained, positive response to treatment with acetylcholinesterase inhibitors.
    Natera-de Benito D; Nascimento A; Abicht A; Ortez C; Jou C; Müller JS; Evangelista T; Töpf A; Thompson R; Jimenez-Mallebrera C; Colomer J; Lochmüller H
    J Neurol; 2016 Mar; 263(3):517-23. PubMed ID: 26754003
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Actin myopathy with nemaline bodies, intranuclear rods, and a heterozygous mutation in ACTA1 (Asp154Asn).
    Schröder JM; Durling H; Laing N
    Acta Neuropathol; 2004 Sep; 108(3):250-6. PubMed ID: 15221331
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype.
    Malfatti E; Lehtokari VL; Böhm J; De Winter JM; Schäffer U; Estournet B; Quijano-Roy S; Monges S; Lubieniecki F; Bellance R; Viou MT; Madelaine A; Wu B; Taratuto AL; Eymard B; Pelin K; Fardeau M; Ottenheijm CA; Wallgren-Pettersson C; Laporte J; Romero NB
    Acta Neuropathol Commun; 2014 Apr; 2():44. PubMed ID: 24725366
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Clinically variable nemaline myopathy in a three-generation family caused by mutation of the skeletal muscle alpha-actin gene.
    Lehtokari VL; Gardberg M; Pelin K; Wallgren-Pettersson C
    Neuromuscul Disord; 2018 Apr; 28(4):323-326. PubMed ID: 29433794
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Sudden cardiac arrest in a child with nemaline myopathy.
    Marseglia L; D'Angelo G; Manti S; Salpietro V; Arrigo T; Cavallari V; Gitto E
    Ital J Pediatr; 2015 Mar; 41():20. PubMed ID: 25888334
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Co-existence of nemaline and cytoplasmic bodies in muscle of an infant with nemaline myopathy.
    Suwa K; Mizuguchi M; Momoi MY; Nakamura M; Arima K; Komaki H; Nonaka I
    Neuropathology; 2002 Dec; 22(4):294-8. PubMed ID: 12564770
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.
    Monforte M; Primiano G; Silvestri G; Mirabella M; Luigetti M; Cuccagna C; Ricci E; Servidei S; Tasca G
    J Neurol; 2018 Mar; 265(3):542-551. PubMed ID: 29356967
    [TBL] [Abstract][Full Text] [Related]  

  • 58. A de novo dominant mutation in ACTA1 causing congenital nemaline myopathy associated with a milder phenotype: expanding the spectrum of dominant ACTA1 mutations.
    Levesque L; Del Bigio MR; Krawitz S; Mhanni AA
    Neuromuscul Disord; 2013 Mar; 23(3):239-42. PubMed ID: 23305948
    [TBL] [Abstract][Full Text] [Related]  

  • 59. 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]  

  • 60. 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]  

    [Previous]   [Next]    [New Search]
    of 8.