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Journal Abstract Search

173 related items for PubMed ID: 32666437

  • 21. Private dysferlin exon skipping mutation (c.5492G>A) with a founder effect reveals further alternative splicing involving exons 49-51.
    Santos R, Oliveira J, Vieira E, Coelho T, Carneiro AL, Evangelista T, Dias C, Fortuna A, Geraldo A, Negrão L, Guimarães A, Bronze-da-Rocha E.
    J Hum Genet; 2010 Aug; 55(8):546-9. PubMed ID: 20535123
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  • 22. The genetic profile of dysferlinopathy in a cohort of 209 cases: Genotype-phenotype relationship and a hotspot on the inner DysF domain.
    Izumi R, Takahashi T, Suzuki N, Niihori T, Ono H, Nakamura N, Katada S, Kato M, Warita H, Tateyama M, Aoki Y, Aoki M.
    Hum Mutat; 2020 Sep; 41(9):1540-1554. PubMed ID: 32400077
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  • 23. Exome sequencing identifies novel dysferlin mutation in a family with pauci-symptomatic heterozygous carriers.
    Jalali-Sefid-Dashti M, Nel M, Heckmann JM, Gamieldien J.
    BMC Med Genet; 2018 Jun 07; 19(1):95. PubMed ID: 29879922
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  • 24. A new dysferlin gene mutation in a Portuguese family with Miyoshi myopathy.
    Ganchinho Lucas S, Vieira Santos I, Pencas Alfaiate FJ, Lino I.
    BMJ Case Rep; 2021 Jul 19; 14(7):. PubMed ID: 34281941
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  • 27. Novel five nucleotide deletion in dysferlin leads to autosomal recessive limb-girdle muscular dystrophy.
    Chen YL, Wu WB, Wang P, Yip PK, Wu YN, Lin YH, Lin WN.
    Physiol Rep; 2023 Dec 19; 11(24):e15887. PubMed ID: 38110300
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  • 28. Dysferlin mutation analysis in a group of Italian patients with limb-girdle muscular dystrophy and Miyoshi myopathy.
    Kawabe K, Goto K, Nishino I, Angelini C, Hayashi YK.
    Eur J Neurol; 2004 Oct 19; 11(10):657-61. PubMed ID: 15469449
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  • 29. 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 01; 22(1):398. PubMed ID: 36319958
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  • 30. Three novel recessive DYSF mutations identified in three patients with muscular dystrophy, limb-girdle, type 2B.
    Okubo M, Iida A, Hayashi S, Mori-Yoshimura M, Oya Y, Watanabe A, Arahata H, El Sherif R, Noguchi S, Nishino I.
    J Neurol Sci; 2018 Dec 15; 395():169-171. PubMed ID: 30366248
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  • 35. Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.
    Fichna JP, Macias A, Piechota M, Korostyński M, Potulska-Chromik A, Redowicz MJ, Zekanowski C.
    Hum Genomics; 2018 Jul 03; 12(1):34. PubMed ID: 29970176
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  • 38. Dysferlin homozygous mutation G1418D causes limb-girdle type 2B in a Mexican family.
    Rosas-Vargas H, Gómez-Díaz B, Ruano-Calderón L, Fernández-Valverde F, Roque-Ramírez B, Portillo-Bobadilla T, Ordoñez-Razo RM, Minauro-Sanmiguel F, Coral-Vázquez R.
    Genet Test; 2007 Jul 03; 11(4):391-6. PubMed ID: 18294055
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  • 39. Two common mutations (p.Gln832X and c.663+1G>C) account for about a third of the DYSF mutations in Korean patients with dysferlinopathy.
    Park YE, Kim HS, Lee CH, Nam TS, Choi YC, Kim DS.
    Neuromuscul Disord; 2012 Jun 03; 22(6):505-10. PubMed ID: 22297152
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  • 40. Case report of an adolescent girl with limb-girdle muscular dystrophy type 2B - the usefulness of muscle protein immunostaining in the diagnosis of dysferlinopathies.
    Szymanska S, Rokicki D, Karkucinska-Wieckowska A, Szymanska-Debinska T, Ciara E, Ploski R, Grajkowska W, Pronicki M.
    Folia Neuropathol; 2014 Jun 03; 52(4):452-6. PubMed ID: 25574751
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