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 *

115 related articles for article (PubMed ID: 30195123)

  • 1. Congenital myopathy with fiber-type disproportion accompanied by dilated cardiomyopathy in a patient with a novel p.G48A ACTA1 mutation.
    Tadokoro K; Ohta Y; Sasaki R; Takahashi Y; Sato K; Shang J; Takemoto M; Hishikawa N; Yamashita T; Nakamura K; Nishino I; Abe K
    J Neurol Sci; 2018 Oct; 393():142-144. PubMed ID: 30195123
    [No Abstract]   [Full Text] [Related]  

  • 2. A case of congenital fiber-type disproportion syndrome presenting dilated cardiomyopathy with ACTA1 mutation.
    Matsumoto A; Tsuda H; Furui S; Kawada-Nagashima M; Anzai T; Seki M; Watanabe K; Muramatsu K; Osaka H; Iwamoto S; Nishino I; Yamagata T
    Mol Genet Genomic Med; 2022 Sep; 10(9):e2008. PubMed ID: 35757965
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A Novel SPEG mutation causing congenital myopathy with fiber size disproportion and dilated cardiomyopathy with heart transplantation.
    Gurgel-Giannetti J; Souza LS; Messina de Pádua Andrade GF; Derlene MF; Meira ZMA; Azevedo BVM; Jr WC; Diniz SSL; Carvalhais MB; Oliveira JRS; Uliana L; Bráulio R; Costa PHN; Filho GB; Vainzof M
    Neuromuscul Disord; 2021 Nov; 31(11):1199-1206. PubMed ID: 34742623
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Prevalence and phenotypes of congenital myopathy due to α-actin 1 gene mutations.
    Witting N; Werlauff U; Duno M; Vissing J
    Muscle Nerve; 2016 Mar; 53(3):388-93. PubMed ID: 26172852
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A new mutation in the ACTA1 gene possibly associated with dilated cardiomyopathy without concomitant myopathy.
    Díaz Expósito A; Robles Mezcua A; Pérez Cabeza AI; García Pinilla JM
    Rev Esp Cardiol (Engl Ed); 2022 Oct; 75(10):850-852. PubMed ID: 35597757
    [No Abstract]   [Full Text] [Related]  

  • 6. Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei.
    Lornage X; Sabouraud P; Lannes B; Gaillard D; Schneider R; Deleuze JF; Boland A; Thompson J; Böhm J; Biancalana V; Laporte J
    J Neuromuscul Dis; 2018; 5(2):257-260. PubMed ID: 29614691
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Frequency and phenotype of patients carrying TPM2 and TPM3 gene mutations in a cohort of 94 patients with congenital myopathy.
    Citirak G; Witting N; Duno M; Werlauff U; Petri H; Vissing J
    Neuromuscul Disord; 2014 Apr; 24(4):325-30. PubMed ID: 24507666
    [TBL] [Abstract][Full Text] [Related]  

  • 8. ACTA1 Novel Likely Pathogenic Variant in a Family With Dilated Cardiomyopathy.
    Reza N; Garg A; Merrill SL; Chowns JL; Rao S; Owens AT
    Circ Genom Precis Med; 2018 Oct; 11(10):e002243. PubMed ID: 30354303
    [No Abstract]   [Full Text] [Related]  

  • 9. Nemaline myopathy with dilated cardiomyopathy in childhood.
    Gatayama R; Ueno K; Nakamura H; Yanagi S; Ueda H; Yamagishi H; Yasui S
    Pediatrics; 2013 Jun; 131(6):e1986-90. PubMed ID: 23650303
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Expanding the spectrum of congenital myopathy linked to recessive mutations in SCN4A.
    Mercier S; Lornage X; Malfatti E; Marcorelles P; Letournel F; Boscher C; Caillaux G; Magot A; Böhm J; Boland A; Deleuze JF; Romero N; Péréon Y; Laporte J
    Neurology; 2017 Jan; 88(4):414-416. PubMed ID: 28003497
    [No Abstract]   [Full Text] [Related]  

  • 11. Cardiac manifestations of congenital fiber-type disproportion myopathy.
    Banwell BL; Becker LE; Jay V; Taylor GP; Vajsar J
    J Child Neurol; 1999 Feb; 14(2):83-7. PubMed ID: 10073429
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Thomsen disease with ptosis and abnormal MR findings.
    Mori Y; Yamashita S; Kato M; Masuda T; Takamatsu K; Kumamoto T; Sasaki R; Ando Y
    Neuromuscul Disord; 2016 Nov; 26(11):805-808. PubMed ID: 27666773
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.
    Straussberg R; Schottmann G; Sadeh M; Gill E; Seifert F; Halevy A; Qassem K; Rendu J; van der Ven PF; Stenzel W; Schuelke M
    Acta Neuropathol; 2016 Sep; 132(3):475-8. PubMed ID: 27484770
    [No Abstract]   [Full Text] [Related]  

  • 14. Dihydropyridine receptor (DHPR, CACNA1S) congenital myopathy.
    Schartner V; Romero NB; Donkervoort S; Treves S; Munot P; Pierson TM; Dabaj I; Malfatti E; Zaharieva IT; Zorzato F; Abath Neto O; Brochier G; Lornage X; Eymard B; Taratuto AL; Böhm J; Gonorazky H; Ramos-Platt L; Feng L; Phadke R; Bharucha-Goebel DX; Sumner CJ; Bui MT; Lacene E; Beuvin M; Labasse C; Dondaine N; Schneider R; Thompson J; Boland A; Deleuze JF; Matthews E; Pakleza AN; Sewry CA; Biancalana V; Quijano-Roy S; Muntoni F; Fardeau M; Bönnemann CG; Laporte J
    Acta Neuropathol; 2017 Apr; 133(4):517-533. PubMed ID: 28012042
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Congenital fiber type disproportion myopathy caused by LMNA mutations.
    Kajino S; Ishihara K; Goto K; Ishigaki K; Noguchi S; Nonaka I; Osawa M; Nishino I; Hayashi YK
    J Neurol Sci; 2014 May; 340(1-2):94-8. PubMed ID: 24642510
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A novel alpha-tropomyosin mutation associates with dilated and non-compaction cardiomyopathy and diminishes actin binding.
    van de Meerakker JB; Christiaans I; Barnett P; Lekanne Deprez RH; Ilgun A; Mook OR; Mannens MM; Lam J; Wilde AA; Moorman AF; Postma AV
    Biochim Biophys Acta; 2013 Apr; 1833(4):833-9. PubMed ID: 23147248
    [TBL] [Abstract][Full Text] [Related]  

  • 17. CACNA1S mutation associated with a case of juvenile-onset congenital myopathy.
    Mauri E; Piga D; Pagliarani S; Magri F; Manini A; Sciacco M; Ripolone M; Napoli L; Borellini L; Cinnante C; Cassandrini D; Corti S; Bresolin N; Comi GP; Govoni A
    J Neurol Sci; 2021 Dec; 431():120047. PubMed ID: 34763287
    [No 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 in dilated cardiomyopathy, a heritable form of heart failure.
    Olson TM; Michels VV; Thibodeau SN; Tai YS; Keating MT
    Science; 1998 May; 280(5364):750-2. PubMed ID: 9563954
    [TBL] [Abstract][Full Text] [Related]  

  • 20. [Anesthetic management of a child with dilated cardiomyopathy associated with congenital fiber-type disproportion].
    Kawaraguchi Y; Taniguchi A; Fukumitsu K; Kinouchi K; Miyamoto Y; Hirao O; Kitamura S
    Masui; 2002 Apr; 51(4):422-4. PubMed ID: 11995354
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 6.