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 *

176 related articles for article (PubMed ID: 32761539)

  • 21. Targeted Next-Generation Sequencing Reveals Novel TTN Mutations Causing Recessive Distal Titinopathy.
    Evilä A; Palmio J; Vihola A; Savarese M; Tasca G; Penttilä S; Lehtinen S; Jonson PH; De Bleecker J; Rainer P; Auer-Grumbach M; Pouget J; Salort-Campana E; Vilchez JJ; Muelas N; Olive M; Hackman P; Udd B
    Mol Neurobiol; 2017 Nov; 54(9):7212-7223. PubMed ID: 27796757
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Limb girdle muscular dystrophy D3 HNRNPDL related in a Chinese family with distal muscle weakness caused by a mutation in the prion-like domain.
    Sun Y; Chen H; Lu Y; Duo J; Lei L; OuYang Y; Hao Y; Da Y; Shen XM
    J Neurol; 2019 Feb; 266(2):498-506. PubMed ID: 30604053
    [TBL] [Abstract][Full Text] [Related]  

  • 23. GNE myopathy in a Chinese male with a novel homozygous mutation.
    Rui B; Chuanqiang P; Huifang W; Huaxu L; Qiang S; Miaomiao W; Haiwen S
    J Clin Neurosci; 2017 May; 39():68-72. PubMed ID: 28284578
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Panorama of the distal myopathies.
    Savarese M; Sarparanta J; Vihola A; Jonson PH; Johari M; Rusanen S; Hackman P; Udd B
    Acta Myol; 2020 Dec; 39(4):245-265. PubMed ID: 33458580
    [TBL] [Abstract][Full Text] [Related]  

  • 25. The clinical, myopathological, and molecular characteristics of 26 Chinese patients with dysferlinopathy: a high proportion of misdiagnosis and novel variants.
    Wang N; Han X; Hao S; Han J; Zhou X; Sun S; Tang J; Lu Y; Wu H; Ma S; Song X; Ji G
    BMC Neurol; 2022 Nov; 22(1):398. PubMed ID: 36319958
    [TBL] [Abstract][Full Text] [Related]  

  • 26. A novel recessive TTN founder variant is a common cause of distal myopathy in the Serbian population.
    Perić S; Glumac JN; Töpf A; Savić-Pavićević D; Phillips L; Johnson K; Cassop-Thompson M; Xu L; Bertoli M; Lek M; MacArthur D; Brkušanin M; Milenković S; Rašić VM; Banko B; Maksimović R; Lochmüller H; Stojanović VR; Straub V
    Eur J Hum Genet; 2017 May; 25(5):572-581. PubMed ID: 28295036
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Mutation update for GNE gene variants associated with GNE myopathy.
    Celeste FV; Vilboux T; Ciccone C; de Dios JK; Malicdan MC; Leoyklang P; McKew JC; Gahl WA; Carrillo-Carrasco N; Huizing M
    Hum Mutat; 2014 Aug; 35(8):915-26. PubMed ID: 24796702
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family.
    Wang G; Lv X; Xu L; Zhang R; Yan C; Lin P
    Neurol Sci; 2022 May; 43(5):3427-3433. PubMed ID: 35239051
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Adult onset limb-girdle muscular dystrophy - a recessive titinopathy masquerading as myositis.
    Dabby R; Sadeh M; Hilton-Jones D; Plotz P; Hackman P; Vihola A; Udd B; Leshinsky-Silver E
    J Neurol Sci; 2015 Apr; 351(1-2):120-123. PubMed ID: 25772186
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Identification of a Novel Mutation in the Titin Gene in a Chinese Family with Limb-Girdle Muscular Dystrophy 2J.
    Zheng W; Chen H; Deng X; Yuan L; Yang Y; Song Z; Yang Z; Wu Y; Deng H
    Mol Neurobiol; 2016 Oct; 53(8):5097-102. PubMed ID: 26392295
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Homozygous missense variant in the TTN gene causing autosomal recessive limb-girdle muscular dystrophy type 10.
    Khan A; Wang R; Han S; Umair M; Abbas S; Khan MI; Alshabeeb MA; Alfadhel M; Zhang X
    BMC Med Genet; 2019 Oct; 20(1):166. PubMed ID: 31664938
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Findings of limb-girdle muscular dystrophy R7 telethonin-related patients from a Chinese neuromuscular center.
    Huang K; Li QX; Duan HQ; Luo YB; Bi FF; Yang H
    Neurogenetics; 2022 Jan; 23(1):37-44. PubMed ID: 34982307
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Distal myopathy and rapidly progressive dementia associated with a novel mutation in the VCP gene: Expanding inclusion body myopathy with early-onset Paget disease and frontotemporal dementia spectrum.
    Falcão de Campos C; de Carvalho M
    J Clin Neurosci; 2019 Jun; 64():8-10. PubMed ID: 30955949
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Mutation profile of the GNE gene in Japanese patients with distal myopathy with rimmed vacuoles (GNE myopathy).
    Cho A; Hayashi YK; Monma K; Oya Y; Noguchi S; Nonaka I; Nishino I
    J Neurol Neurosurg Psychiatry; 2014 Aug; 85(8):914-7. PubMed ID: 24027297
    [TBL] [Abstract][Full Text] [Related]  

  • 35. A female carrier of spinal and bulbar muscular atrophy diagnosed with DNAJB6-related distal myopathy.
    Xu L; Geng H; Lv X; Wang G; Yan C; Zhang D; Lin P
    J Hum Genet; 2022 Jul; 67(7):441-444. PubMed ID: 35165376
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.
    Jonson PH; Palmio J; Johari M; Penttilä S; Evilä A; Nelson I; Bonne G; Wiart N; Meyer V; Boland A; Deleuze JF; Masson C; Stojkovic T; Chapon F; Romero NB; Solé G; Ferrer X; Ferreiro A; Hackman P; Richard I; Udd B
    Eur J Neurol; 2018 May; 25(5):790-794. PubMed ID: 29437287
    [TBL] [Abstract][Full Text] [Related]  

  • 37. HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes.
    Berardo A; Lornage X; Johari M; Evangelista T; Cejas C; Barroso F; Dubrovsky A; Bui MT; Brochier G; Saccoliti M; Bohm J; Udd B; Laporte J; Romero NB; Taratuto AL
    J Neurol; 2019 Oct; 266(10):2524-2534. PubMed ID: 31267206
    [TBL] [Abstract][Full Text] [Related]  

  • 38. 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]  

  • 39. Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations.
    Park YE; Kim HS; Choi ES; Shin JH; Kim SY; Son EH; Lee CH; Kim DS
    J Neurol Sci; 2012 Oct; 321(1-2):77-81. PubMed ID: 22883483
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Transcription-terminating mutation in telethonin causing autosomal recessive muscular dystrophy type 2G in a European patient.
    Olivé M; Shatunov A; Gonzalez L; Carmona O; Moreno D; Quereda LG; Martinez-Matos JA; Goldfarb LG; Ferrer I
    Neuromuscul Disord; 2008 Dec; 18(12):929-33. PubMed ID: 18948002
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 9.