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280 related items for PubMed ID: 26304763

  • 1. 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
    [Abstract] [Full Text] [Related]

  • 2. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
    Løkken N, Born AP, Duno M, Vissing J.
    Muscle Nerve; 2015 Oct; 52(4):547-53. PubMed ID: 25663498
    [Abstract] [Full Text] [Related]

  • 3. Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
    Magri F, Brusa R, Bello L, Peverelli L, Del Bo R, Govoni A, Cinnante C, Colombo I, Fortunato F, Tironi R, Corti S, Grimoldi N, Sciacco M, Bresolin N, Pegoraro E, Moggio M, Comi GP.
    Acta Myol; 2020 Jun; 39(2):67-82. PubMed ID: 32904964
    [Abstract] [Full Text] [Related]

  • 4. Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
    Xiong H, Tan D, Wang S, Song S, Yang H, Gao K, Liu A, Jiao H, Mao B, Ding J, Chang X, Wang J, Wu Y, Yuan Y, Jiang Y, Zhang F, Wu H, Wu X.
    Clin Genet; 2015 Mar; 87(3):233-43. PubMed ID: 24611677
    [Abstract] [Full Text] [Related]

  • 5. Targeted next generation sequencing reveals a novel intragenic deletion of the LAMA2 gene in a patient with congenital muscular dystrophy.
    Yang Y, Mao B, Wang L, Mao L, Zhou A, Cao J, Hu J, Zhou Y, Pan Y, Wei X, Yang S, Mu F, Liu Z.
    Mol Med Rep; 2015 May; 11(5):3687-93. PubMed ID: 25544356
    [Abstract] [Full Text] [Related]

  • 6. Diagnosis and genetic testing analysis of limb-girdle muscular dystrophy type 2U caused by a compound heterozygous mutation in the ISPD gene.
    Huang J, Miao WH, Guo XF, Ji W.
    Yi Chuan; 2023 Jun 20; 45(6):536-542. PubMed ID: 37340967
    [Abstract] [Full Text] [Related]

  • 7. Compound heterozygous CAPN3 variants identified in a family with limb-girdle muscular dystrophy recessive 1.
    Zhang C, Zheng X, Lu D, Xu L, Che F, Liu S.
    Mol Med Rep; 2021 Jun 20; 23(6):. PubMed ID: 33899113
    [Abstract] [Full Text] [Related]

  • 8. Clinical and molecular characterization of limb-girdle muscular dystrophy due to LAMA2 mutations.
    Gavassini BF, Carboni N, Nielsen JE, Danielsen ER, Thomsen C, Svenstrup K, Bello L, Maioli MA, Marrosu G, Ticca AF, Mura M, Marrosu MG, Soraru G, Angelini C, Vissing J, Pegoraro E.
    Muscle Nerve; 2011 Nov 20; 44(5):703-9. PubMed ID: 21953594
    [Abstract] [Full Text] [Related]

  • 9. Laminin alpha 2-chain gene mutations in two siblings presenting with limb-girdle muscular dystrophy.
    Naom I, D'Alessandro M, Sewry CA, Philpot J, Manzur AY, Dubowitz V, Muntoni F.
    Neuromuscul Disord; 1998 Oct 20; 8(7):495-501. PubMed ID: 9829280
    [Abstract] [Full Text] [Related]

  • 10. 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 20; 23(2):811-818. PubMed ID: 30450679
    [Abstract] [Full Text] [Related]

  • 11. Genetic analysis of 1051 Chinese families with Duchenne/Becker Muscular Dystrophy.
    Kong X, Zhong X, Liu L, Cui S, Yang Y, Kong L.
    BMC Med Genet; 2019 Aug 14; 20(1):139. PubMed ID: 31412794
    [Abstract] [Full Text] [Related]

  • 12. Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.
    Khorrami A, Goleij P, Karamad V, Taheri E, Shadman B, Emami P, Jahangirzadeh G, Hajazimian S, Isazadeh A, Baradaran B, Heidari M.
    J Clin Lab Anal; 2021 Nov 14; 35(11):e23930. PubMed ID: 34528292
    [Abstract] [Full Text] [Related]

  • 13. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
    Hadj Salem I, Kamoun F, Louhichi N, Rouis S, Mziou M, Fendri-Kriaa N, Makni-Ayadi F, Triki C, Fakhfakh F.
    Biosci Rep; 2011 Apr 14; 31(2):125-35. PubMed ID: 20477750
    [Abstract] [Full Text] [Related]

  • 14. [Clinical, molecular pathological and genetic analyses of a Chinese family with congenital muscular dystrophy type 1A].
    Wang S, Xiong H, Luo J, Chang X, Yuan Y, Wu X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Feb 14; 27(1):13-7. PubMed ID: 20140860
    [Abstract] [Full Text] [Related]

  • 15. Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
    Tan D, Ge L, Fan Y, Chang X, Wang S, Wei C, Ding J, Liu A, Wang S, Li X, Gao K, Yang H, Que C, Huang Z, Li C, Zhu Y, Mao B, Jin B, Hua Y, Zhang X, Zhang B, Zhu W, Zhang C, Wang Y, Yuan Y, Jiang Y, Rutkowski A, Bönnemann CG, Wu X, Xiong H.
    Orphanet J Rare Dis; 2021 Jul 19; 16(1):319. PubMed ID: 34281576
    [Abstract] [Full Text] [Related]

  • 16. TRIM32 biallelic defects cause limb-girdle muscular dystrophy R8: identification of two novel mutations and investigation of genotype-phenotype correlation.
    Guan Y, Liang X, Li W, Lin W, Liang G, Xie H, Hou Y, Hu Y, Shang X.
    Skelet Muscle; 2023 May 22; 13(1):10. PubMed ID: 37217920
    [Abstract] [Full Text] [Related]

  • 17. Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of LAMA2 gene.
    Xu Y, Zhu L, Qian Y, Dong M.
    Front Pediatr; 2023 May 22; 11():1191068. PubMed ID: 37404563
    [Abstract] [Full Text] [Related]

  • 18. Case report: Adult-onset limb girdle muscular dystrophy in sibling pair due to novel homozygous LAMA2 missense variant.
    Katz M, Waddell LB, Yuen M, Bryen SJ, Oates E, Garton FC, Robertson T, Henderson RD, Cooper ST, McCombe PA.
    Front Neurol; 2023 May 22; 14():1055639. PubMed ID: 36779065
    [Abstract] [Full Text] [Related]

  • 19. Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.
    El Kadiri Y, Ratbi I, Laarabi FZ, Kriouile Y, Sefiani A, Lyahyai J.
    BMC Med Genomics; 2021 Apr 21; 14(1):113. PubMed ID: 33882917
    [Abstract] [Full Text] [Related]

  • 20. [Variant analysis for a pedigree affected with limb-girdle muscular dystrophy type 2D].
    Ding L, Tang S, Li H, Xu X, Luan Z, Zhang Q, Lyu J.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Feb 10; 36(2):136-139. PubMed ID: 30703231
    [Abstract] [Full Text] [Related]

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