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 *

156 related articles for article (PubMed ID: 33693846)

  • 1. NEM6, KBTBD13-Related Congenital Myopathy: Myopathological Analysis in 18 Dutch Patients Reveals Ring Rods Fibers, Cores, Nuclear Clumps, and Granulo-Filamentous Protein Material.
    Bouman K; Küsters B; De Winter JM; Gillet C; Van Kleef ESB; Eshuis L; Brochier G; Madelaine A; Labasse C; Boulogne C; Van Engelen BGM; Ottenheijm CAC; Romero NB; Voermans NC; Malfatti E
    J Neuropathol Exp Neurol; 2021 Mar; 80(4):366-376. PubMed ID: 33693846
    [TBL] [Abstract][Full Text] [Related]  

  • 2. KBTBD13 is an actin-binding protein that modulates muscle kinetics.
    de Winter JM; Molenaar JP; Yuen M; van der Pijl R; Shen S; Conijn S; van de Locht M; Willigenburg M; Bogaards SJ; van Kleef ES; Lassche S; Persson M; Rassier DE; Sztal TE; Ruparelia AA; Oorschot V; Ramm G; Hall TE; Xiong Z; Johnson CN; Li F; Kiss B; Lozano-Vidal N; Boon RA; Marabita M; Nogara L; Blaauw B; Rodenburg RJ; Küsters B; Doorduin J; Beggs AH; Granzier H; Campbell K; Ma W; Irving T; Malfatti E; Romero NB; Bryson-Richardson RJ; van Engelen BG; Voermans NC; Ottenheijm CA
    J Clin Invest; 2020 Feb; 130(2):754-767. PubMed ID: 31671076
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.
    Sambuughin N; Yau KS; Olivé M; Duff RM; Bayarsaikhan M; Lu S; Gonzalez-Mera L; Sivadorai P; Nowak KJ; Ravenscroft G; Mastaglia FL; North KN; Ilkovski B; Kremer H; Lammens M; van Engelen BG; Fabian V; Lamont P; Davis MR; Laing NG; Goldfarb LG
    Am J Hum Genet; 2010 Dec; 87(6):842-7. PubMed ID: 21109227
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Nemaline myopathy type 6: clinical and myopathological features.
    Olivé M; Goldfarb LG; Lee HS; Odgerel Z; Blokhin A; Gonzalez-Mera L; Moreno D; Laing NG; Sambuughin N
    Muscle Nerve; 2010 Dec; 42(6):901-7. PubMed ID: 21104864
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A family with nemaline myopathy type 6 caused by hseterozygous mutation (c.1222C>T) in the KBTBD13 gene in China: A case report.
    Kang ZX; Wei XJ; Miao J; Gao YL; Wang ZY; Yu XF
    Neuropathology; 2020 Feb; 40(1):104-108. PubMed ID: 31828823
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Beyond LGMD1A: myotilin is a component of central core lesions and nemaline rods.
    Schröder R; Reimann J; Salmikangas P; Clemen CS; Hayashi YK; Nonaka I; Arahata K; Carpén O
    Neuromuscul Disord; 2003 Aug; 13(6):451-5. PubMed ID: 12899871
    [TBL] [Abstract][Full Text] [Related]  

  • 8. KBTBD13 is a novel cardiomyopathy gene.
    de Winter JM; Bouman K; Strom J; Methawasin M; Jongbloed JDH; van der Roest W; Wijngaarden JV; Timmermans J; Nijveldt R; van den Heuvel F; Kamsteeg EJ; van Engelen BG; Galli R; Bogaards SJP; Boon RA; van der Pijl RJ; Granzier H; Koeleman B; Amin AS; van der Velden J; van Tintelen JP; van den Berg MP; van Spaendonck-Zwarts KY; Voermans NC; Ottenheijm CAC
    Hum Mutat; 2022 Dec; 43(12):1860-1865. PubMed ID: 36335629
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Nebulin deficiency in adult muscle causes sarcomere defects and muscle-type-dependent changes in trophicity: novel insights in nemaline myopathy.
    Li F; Buck D; De Winter J; Kolb J; Meng H; Birch C; Slater R; Escobar YN; Smith JE; Yang L; Konhilas J; Lawlor MW; Ottenheijm C; Granzier HL
    Hum Mol Genet; 2015 Sep; 24(18):5219-33. PubMed ID: 26123491
    [TBL] [Abstract][Full Text] [Related]  

  • 10. 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]  

  • 11. NEB-related core-rod myopathy with distinct clinical and pathological features.
    Park YE; Shin JH; Kang B; Lee CH; Kim DS
    Muscle Nerve; 2016 Mar; 53(3):479-84. PubMed ID: 26562614
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Clinico-pathological features and mutational spectrum of 16 nemaline myopathy patients from a Chinese neuromuscular center.
    Yin X; Pu C; Wang Z; Li K; Wang H
    Acta Neurol Belg; 2022 Jun; 122(3):631-639. PubMed ID: 33742414
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Core-rod myopathy caused by mutations in the nebulin gene.
    Romero NB; Lehtokari VL; Quijano-Roy S; Monnier N; Claeys KG; Carlier RY; Pellegrini N; Orlikowski D; Barois A; Laing NG; Lunardi J; Fardeau M; Pelin K; Wallgren-Pettersson C
    Neurology; 2009 Oct; 73(14):1159-61. PubMed ID: 19805734
    [No Abstract]   [Full Text] [Related]  

  • 14. Congenital myopathy with abundant nemaline rods in a cat.
    Kube SA; Vernau KM; LeCouteur RA; Mizisin AP; Shelton GD
    Neuromuscul Disord; 2006 Mar; 16(3):188-91. PubMed ID: 16487709
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Filamentous tangles with nemaline rods in MYH2 myopathy: a novel phenotype.
    Madigan NN; Polzin MJ; Cui G; Liewluck T; Alsharabati MH; Klein CJ; Windebank AJ; Mer G; Milone M
    Acta Neuropathol Commun; 2021 Apr; 9(1):79. PubMed ID: 33926564
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel ACTA1 mutation causes late-presenting nemaline myopathy with unusual dark cores.
    Garibaldi M; Fattori F; Pennisi EM; Merlonghi G; Fionda L; Vanoli F; Leonardi L; Bucci E; Morino S; Micaloni A; Tartaglione T; Uijterwijk B; Zierikzee M; Ottenheijm C; Bertini ES; Stoppacciaro A; Raffa S; Salvetti M; Antonini G
    Neuromuscul Disord; 2021 Feb; 31(2):139-148. PubMed ID: 33384202
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Nemaline myopathies: a current view.
    Sewry CA; Laitila JM; Wallgren-Pettersson C
    J Muscle Res Cell Motil; 2019 Jun; 40(2):111-126. PubMed ID: 31228046
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 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.