BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

148 related articles for article (PubMed ID: 31255525)

  • 21. Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.
    Couthouis J; Raphael AR; Siskind C; Findlay AR; Buenrostro JD; Greenleaf WJ; Vogel H; Day JW; Flanigan KM; Gitler AD
    Neuromuscul Disord; 2014 May; 24(5):431-5. PubMed ID: 24594375
    [TBL] [Abstract][Full Text] [Related]  

  • 22. A founder mutation in the GMPPB gene [c.1000G > A (p.Asp334Asn)] causes a mild form of limb-girdle muscular dystrophy/congenital myasthenic syndrome (LGMD/CMS) in South Indian patients.
    Polavarapu K; Mathur A; Joshi A; Nashi S; Preethish-Kumar V; Bardhan M; Sharma P; Parveen S; Seth M; Vengalil S; Chawla T; Shingavi L; Shamim U; Nayak S; Vivekanand A; Töpf A; Roos A; Horvath R; Lochmüller H; Nandeesh B; Arunachal G; Nalini A; Faruq M
    Neurogenetics; 2021 Oct; 22(4):271-285. PubMed ID: 34333724
    [TBL] [Abstract][Full Text] [Related]  

  • 23. 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]  

  • 24. Congenital myasthenic syndrome in China: genetic and myopathological characterization.
    Zhao Y; Li Y; Bian Y; Yao S; Liu P; Yu M; Zhang W; Wang Z; Yuan Y
    Ann Clin Transl Neurol; 2021 Apr; 8(4):898-907. PubMed ID: 33756069
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Autosomal recessive limb girdle myasthenia in two sisters.
    Shankar A; Solomon T; Joseph TP; Gnanamuthu C
    Neurol India; 2002 Dec; 50(4):500-3. PubMed ID: 12577107
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Tubular aggregates in autoimmune Lambert-Eaton myasthenic syndrome.
    Cordts I; Funk F; Schulz JB; Weis J; Claeys KG
    Neuromuscul Disord; 2016 Dec; 26(12):880-884. PubMed ID: 27816328
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.
    Cossée M; Lagier-Tourenne C; Seguela C; Mohr M; Leturcq F; Gundesli H; Chelly J; Tranchant C; Koenig M; Mandel JL
    Neuromuscul Disord; 2009 Apr; 19(4):255-60. PubMed ID: 19303295
    [TBL] [Abstract][Full Text] [Related]  

  • 28. 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]  

  • 29. Compound heterozygous
    Zhang C; Zheng X; Lu D; Xu L; Che F; Liu S
    Mol Med Rep; 2021 Jun; 23(6):. PubMed ID: 33899113
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Four Individuals with a Homozygous Mutation in Exon 1f of the
    Mroczek M; Durmus H; Töpf A; Parman Y; Straub V
    Genes (Basel); 2020 Jun; 11(7):. PubMed ID: 32605089
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.
    Wang DN; Wang ZQ; Chen YQ; Xu GR; Lin MT; Wang N
    Int J Neurosci; 2018 Mar; 128(3):199-207. PubMed ID: 28931339
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Whole exome sequencing identified a novel DAG1 mutation in a patient with rare, mild and late age of onset muscular dystrophy-dystroglycanopathy.
    Dai Y; Liang S; Dong X; Zhao Y; Ren H; Guan Y; Yin H; Li C; Chen L; Cui L; Banerjee S
    J Cell Mol Med; 2019 Feb; 23(2):811-818. PubMed ID: 30450679
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Juvenile limb-girdle myasthenia gravis.
    Rodolico C; Pastura C; Sinicropi S; Girlanda P; Toscano A; Messina C; Vita G
    Neuropediatrics; 2005 Dec; 36(6):353-6. PubMed ID: 16429374
    [TBL] [Abstract][Full Text] [Related]  

  • 34. A 3'-UTR mutation creates a microRNA target site in the GFPT1 gene of patients with congenital myasthenic syndrome.
    Dusl M; Senderek J; Müller JS; Vogel JG; Pertl A; Stucka R; Lochmüller H; David R; Abicht A
    Hum Mol Genet; 2015 Jun; 24(12):3418-26. PubMed ID: 25765662
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Mutations in DPAGT1 cause a limb-girdle congenital myasthenic syndrome with tubular aggregates.
    Belaya K; Finlayson S; Slater CR; Cossins J; Liu WW; Maxwell S; McGowan SJ; Maslau S; Twigg SR; Walls TJ; Pascual Pascual SI; Palace J; Beeson D
    Am J Hum Genet; 2012 Jul; 91(1):193-201. PubMed ID: 22742743
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Clinical and genetic characterization of limb girdle muscular dystrophy R7 telethonin-related patients from three unrelated Chinese families.
    Chen H; Xu G; Lin F; Jin M; Cai N; Qiu L; Ye Z; Wang L; Lin M; Wang N
    Neuromuscul Disord; 2020 Feb; 30(2):137-143. PubMed ID: 32005491
    [TBL] [Abstract][Full Text] [Related]  

  • 37. A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.
    Strang-Karlsson S; Johnson K; Töpf A; Xu L; Lek M; MacArthur DG; Casar-Borota O; Williams M; Straub V; Wallgren-Pettersson C
    Neuromuscul Disord; 2018 Jul; 28(7):614-618. PubMed ID: 29910097
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A founder mutation in Anoctamin 5 is a major cause of limb-girdle muscular dystrophy.
    Hicks D; Sarkozy A; Muelas N; Köehler K; Huebner A; Hudson G; Chinnery PF; Barresi R; Eagle M; Polvikoski T; Bailey G; Miller J; Radunovic A; Hughes PJ; Roberts R; Krause S; Walter MC; Laval SH; Straub V; Lochmüller H; Bushby K
    Brain; 2011 Jan; 134(Pt 1):171-182. PubMed ID: 21186264
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Agenesis of Pectoralis Major Muscle in Late-Onset
    Williams EK; Shea C; Gonzalez-Perez P
    Neurol Genet; 2023 Dec; 9(6):e200102. PubMed ID: 38235042
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
    Ding J; Zhao D; Du R; Zhang Y; Yang H; Liu J; Yan C; Zhang F; Xiong H
    Brain Dev; 2016 Feb; 38(2):242-9. PubMed ID: 26304763
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.