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 *

132 related articles for article (PubMed ID: 32037607)

  • 21. New missense variants of NDUFA11 associated with late-onset myopathy.
    Peverelli L; Legati A; Lamantea E; Nasca A; Lerario A; Galimberti V; Ghezzi D; Lamperti C
    Muscle Nerve; 2019 Aug; 60(2):E11-E14. PubMed ID: 31074871
    [No Abstract]   [Full Text] [Related]  

  • 22. Novel biallelic variants in
    Schultz-Rogers L; Ferrer A; Dsouza NR; Zimmermann MT; Smith BE; Klee EW; Dhamija R
    Cold Spring Harb Mol Case Stud; 2019 Dec; 5(6):. PubMed ID: 31604776
    [TBL] [Abstract][Full Text] [Related]  

  • 23. A recurrent homozygous ACTN2 variant associated with core myopathy.
    Inoue M; Noguchi S; Sonehara K; Nakamura-Shindo K; Taniguchi A; Kajikawa H; Nakamura H; Ishikawa K; Ogawa M; Hayashi S; Okada Y; Kuru S; Iida A; Nishino I
    Acta Neuropathol; 2021 Oct; 142(4):785-788. PubMed ID: 34471957
    [No Abstract]   [Full Text] [Related]  

  • 24. Clinical Phenotype in Individuals With Birk-Landau-Perez Syndrome Associated With Biallelic
    Steel DBD; Danti FR; Abunada M; Kamien B; Malhotra S; Topf M; Kaliakatsos M; Valentine J; Nemeth AH; Jayawant S; Reid KM; Mankad K; Sudhakar S; Ben-Pazi H; Barwick K; Kurian MA
    Neurology; 2023 May; 100(21):e2214-e2223. PubMed ID: 37041080
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Two related Dutch families with a clinically variable presentation of cardioskeletal myopathy caused by a novel S13F mutation in the desmin gene.
    Bergman JE; Veenstra-Knol HE; van Essen AJ; van Ravenswaaij CM; den Dunnen WF; van den Wijngaard A; van Tintelen JP
    Eur J Med Genet; 2007; 50(5):355-66. PubMed ID: 17720647
    [TBL] [Abstract][Full Text] [Related]  

  • 26. VCP myopathy: A family with unusual clinical manifestations.
    Guo X; Zhao Z; Shen H; Qi B; Li N; Hu J
    Muscle Nerve; 2019 Mar; 59(3):365-369. PubMed ID: 30488450
    [TBL] [Abstract][Full Text] [Related]  

  • 27.
    Mroczek M; Longman C; Farrugia ME; Kapetanovic Garcia S; Ardicli D; Topaloglu H; Hernández-Laín A; Orhan D; Alikasifoglu M; Duff J; Specht S; Nowak K; Ravenscroft G; Chao K; Valivullah Z; Donkervoort S; Saade D; Bönnemann C; Straub V; Yoon G
    J Med Genet; 2022 Nov; 59(11):1069-1074. PubMed ID: 35393337
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Reducing body myopathy - A new pathogenic FHL1 variant and literature review.
    Mota IA; Correia CDC; Fontana PN; Carvalho AAS
    Neuromuscul Disord; 2021 Sep; 31(9):847-853. PubMed ID: 34366191
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Identification of a novel SUOX pathogenic variants as the cause of isolated sulfite oxidase deficiency in a Chinese pedigree.
    Du P; Hassan RN; Luo H; Xie J; Zhu Y; Hu Q; Yan J; Jiang W
    Mol Genet Genomic Med; 2021 Feb; 9(2):e1590. PubMed ID: 33405344
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Consequences of mutations within the C terminus of the FHL1 gene.
    Schoser B; Goebel HH; Janisch I; Quasthoff S; Rother J; Bergmann M; Müller-Felber W; Windpassinger C
    Neurology; 2009 Aug; 73(7):543-51. PubMed ID: 19687455
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Dihydropyridine Receptor Congenital Myopathy In A Consangineous Turkish Family.
    Yiş U; Hiz S; Güneş S; Diniz G; Baydan F; Töpf A; Sonmezler E; Lochmüller H; Horvath R; Oktay Y
    J Neuromuscul Dis; 2019; 6(3):377-384. PubMed ID: 31227654
    [TBL] [Abstract][Full Text] [Related]  

  • 32. A siRNA-based method for efficient silencing of PYROXD1 gene expression in the colon cancer cell line HCT116.
    Shabani S; Mahjoubi F; Moosavi MA
    J Cell Biochem; 2019 Dec; 120(12):19310-19317. PubMed ID: 31502705
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A missense variant in ITPR1 provides evidence for autosomal recessive SCA29 with asymptomatic cerebellar hypoplasia in carriers.
    Klar J; Ali Z; Farooq M; Khan K; Wikström J; Iqbal M; Zulfiqar S; Faryal S; Baig SM; Dahl N
    Eur J Hum Genet; 2017 Jun; 25(7):848-853. PubMed ID: 28488678
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.
    Remiche G; Kadhim H; Abramowicz M; Mavroudakis N; Monnier N; Lunardi J
    Neuromuscul Disord; 2015 May; 25(5):397-402. PubMed ID: 25747005
    [TBL] [Abstract][Full Text] [Related]  

  • 35. MYH2-associated myopathy caused by a novel splice-site variant.
    Cassini TA; Malicdan MCV; Macnamara EF; Lehky T; Horkayne-Szakaly I; Huang Y; Jones R; Godfrey R; Wolfe L; Gahl WA; Toro C;
    Neuromuscul Disord; 2023 Mar; 33(3):257-262. PubMed ID: 36774715
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Early onset neutral lipid storage disease with myopathy presenting as congenital hypotonia and hepatomegaly.
    Avila-Smirnow D; Durán-Saavedra G; Ovalle-Besa P; Gejman-Enríquez R
    Neuromuscul Disord; 2021 Jan; 31(1):52-55. PubMed ID: 33303358
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Identification of a GNE homozygous mutation in a Han-Chinese family with GNE myopathy.
    Wu Y; Yuan L; Guo Y; Lu A; Zheng W; Xu H; Yang Y; Hu P; Gu S; Wang B; Deng H
    J Cell Mol Med; 2018 Nov; 22(11):5533-5538. PubMed ID: 30160005
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Identification of STAC3 variants in non-Native American families with overlapping features of Carey-Fineman-Ziter syndrome and Moebius syndrome.
    Telegrafi A; Webb BD; Robbins SM; Speck-Martins CE; FitzPatrick D; Fleming L; Redett R; Dufke A; Houge G; van Harssel JJT; Verloes A; Robles A; Manoli I; Engle EC; ; Jabs EW; Valle D; Carey J; Hoover-Fong JE; Sobreira NLM
    Am J Med Genet A; 2017 Oct; 173(10):2763-2771. PubMed ID: 28777491
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Rare variants in known and novel candidate genes predisposing to statin-associated myopathy.
    Neřoldová M; Stránecký V; Hodaňová K; Hartmannová H; Piherová L; Přistoupilová A; Mrázová L; Vrablík M; Adámková V; Hubáček JA; Jirsa M; Kmoch S
    Pharmacogenomics; 2016 Aug; 17(13):1405-14. PubMed ID: 27296017
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Two siblings with homozygous pathogenic splice-site variant in mitochondrial asparaginyl-tRNA synthetase (NARS2).
    Vanlander AV; Menten B; Smet J; De Meirleir L; Sante T; De Paepe B; Seneca S; Pearce SF; Powell CA; Vergult S; Michotte A; De Latter E; Vantomme L; Minczuk M; Van Coster R
    Hum Mutat; 2015 Feb; 36(2):222-31. PubMed ID: 25385316
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.