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Journal Abstract Search

223 related items for PubMed ID: 20301582

  • 21. Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients.
    Guglieri M, Magri F, D'Angelo MG, Prelle A, Morandi L, Rodolico C, Cagliani R, Mora M, Fortunato F, Bordoni A, Del Bo R, Ghezzi S, Pagliarani S, Lucchiari S, Salani S, Zecca C, Lamperti C, Ronchi D, Aguennouz M, Ciscato P, Di Blasi C, Ruggieri A, Moroni I, Turconi A, Toscano A, Moggio M, Bresolin N, Comi GP.
    Hum Mutat; 2008 Feb; 29(2):258-66. PubMed ID: 17994539
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  • 22.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Aoki M, Takahashi T.
    ; 1993 Feb. PubMed ID: 20301480
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    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Selcen D, Engel AG.
    ; 1993 Feb. PubMed ID: 20301672
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  • 27. Calpainopathy (Leyden-Mobius Limb-Girdle Muscular Dystrophy Type 2A Phenotype) and Dysferlinopathy (Miyoshi Distal Myopathy Limb-Girdle Muscular Dystrophy Type 2B Phenotype) of Preadolescent Onset: Case Reports of Two Male Filipinos.
    Quilacio JMS, Rosales RL, Ampil ER.
    Cureus; 2022 Jan; 14(1):e21353. PubMed ID: 35198268
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  • 28. Making sense of the clinical spectrum of limb girdle muscular dystrophies.
    Khadilkar SV, Patel BA, Lalkaka JA.
    Pract Neurol; 2018 Jun; 18(3):201-210. PubMed ID: 29472383
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  • 30. [Limb-girdle muscular dystrophy; update].
    Sunada Y.
    Rinsho Shinkeigaku; 2004 Nov; 44(11):995-7. PubMed ID: 15651352
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  • 31. Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.
    Alonso-Pérez J, González-Quereda L, Bruno C, Panicucci C, Alavi A, Nafissi S, Nilipour Y, Zanoteli E, Isihi LMA, Melegh B, Hadzsiev K, Muelas N, Vílchez JJ, Dourado ME, Kadem N, Kutluk G, Umair M, Younus M, Pegorano E, Bello L, Crawford TO, Suárez-Calvet X, Töpf A, Guglieri M, Marini-Bettolo C, Gallano P, Straub V, Díaz-Manera J.
    Brain; 2022 Apr 18; 145(2):596-606. PubMed ID: 34515763
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  • 36. Compound heterozygous DYSF variants causing limb-girdle muscular dystrophy type 2B in a Chinese family.
    Li L, Jing Z, Cheng L, Liu W, Wang H, Xu Y, Zheng X, Yu X, Liu S.
    J Gene Med; 2020 Nov 18; 22(11):e3272. PubMed ID: 32889728
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  • 38.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, So JY, Teng J.
    ; 1993 Nov 18. PubMed ID: 20301543
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  • 39. Dysferlin protein analysis in limb-girdle muscular dystrophies.
    Vainzof M, Anderson LV, McNally EM, Davis DB, Faulkner G, Valle G, Moreira ES, Pavanello RC, Passos-Bueno MR, Zatz M.
    J Mol Neurosci; 2001 Aug 18; 17(1):71-80. PubMed ID: 11665864
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