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 *

144 related articles for article (PubMed ID: 31217710)

  • 1. A rare structural myopathy: Nemaline myopathy.
    Yeşilbaş O; Şevketoğlu E; Kıhtır HS; Ersoy M; Petmezci MT; Akkuş CH; Şahin Ö; Ceylaner S
    Turk Pediatri Ars; 2019; 54(1):49-52. PubMed ID: 31217710
    [TBL] [Abstract][Full Text] [Related]  

  • 2. [Sibling cases of severe infantile form of nemaline myopathy with ACTA1-gene mutation].
    Sudo A; Hayashi Y; Sano H; Kawamura N; Nishino I; Nonaka I
    No To Hattatsu; 2013 Nov; 45(6):452-6. PubMed ID: 24313005
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. [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]  

  • 5. 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]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Heterogeneity of nemaline myopathy cases with skeletal muscle alpha-actin gene mutations.
    Agrawal PB; Strickland CD; Midgett C; Morales A; Newburger DE; Poulos MA; Tomczak KK; Ryan MM; Iannaccone ST; Crawford TO; Laing NG; Beggs AH
    Ann Neurol; 2004 Jul; 56(1):86-96. PubMed ID: 15236405
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Mild clinical presentation in KLHL40-related nemaline myopathy (NEM 8).
    Seferian AM; Malfatti E; Bosson C; Pelletier L; Taytard J; Forin V; Gidaro T; Gargaun E; Carlier P; Fauré J; Romero NB; Rendu J; Servais L
    Neuromuscul Disord; 2016 Oct; 26(10):712-716. PubMed ID: 27528495
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Clinical, pathological and genetic studies of two cases of childhood-onset nemaline myopathy].
    Huang K; Luo YE; Li QX; Duan HQ; Bi FF; Yang H; Luo YB
    Zhongguo Dang Dai Er Ke Za Zhi; 2018 Oct; 20(10):804-808. PubMed ID: 30369353
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Congenital Nemaline Myopathy in Two Neonates With Different Mutations: A Case Series and Literature Review.
    Mohtisham F; Al Thaqafi M; Shawli A; Sallam A
    Cureus; 2023 Sep; 15(9):e45197. PubMed ID: 37720117
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Severe congenital actin related myopathy with myofibrillar myopathy features.
    Selcen D
    Neuromuscul Disord; 2015 Jun; 25(6):488-92. PubMed ID: 25913210
    [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. Distinct underlying mechanisms of limb and respiratory muscle fiber weaknesses in nemaline myopathy.
    Lindqvist J; Cheng AJ; Renaud G; Hardeman EC; Ochala J
    J Neuropathol Exp Neurol; 2013 Jun; 72(6):472-81. PubMed ID: 23656990
    [TBL] [Abstract][Full Text] [Related]  

  • 20. A novel ACTA1 mutation causing progressive facioscapuloperoneal myopathy in an adult.
    Kao JC; Liewluck T; Milone M
    J Clin Neurosci; 2018 Jul; 53():261-262. PubMed ID: 29731279
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.