Literature DB >> 12566530

Genotype-phenotype correlations in 35 Brazilian families with sarcoglycanopathies including the description of three novel mutations.

E S Moreira, M Vainzof, O T Suzuki, R C M Pavanello, M Zatz, M R Passos-Bueno.   

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Year:  2003        PMID： 12566530      PMCID： PMC1735374          DOI： 10.1136/jmg.40.2.e12

Source DB:  PubMed          Journal:  J Med Genet        ISSN： 0022-2593            Impact factor:   6.318


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  14 in total

1.  A new evidence for the maintenance of the sarcoglycan complex in muscle sarcolemma in spite of the primary absence of delta-SG protein.

Authors:  Telma L F Gouveia; Patrícia M Kossugue; Julia F Paim; Mayana Zatz; Louise V B Anderson; Vincenzo Nigro; Mariz Vainzof
Journal:  J Mol Med (Berl)       Date:  2007-01-30       Impact factor: 4.599

2.  Inhibition of proteasome activity promotes the correct localization of disease-causing alpha-sarcoglycan mutants in HEK-293 cells constitutively expressing beta-, gamma-, and delta-sarcoglycan.

Authors:  Stefano Gastaldello; Simona D'Angelo; Susanna Franzoso; Marina Fanin; Corrado Angelini; Romeo Betto; Dorianna Sandonà
Journal:  Am J Pathol       Date:  2008-06-05       Impact factor: 4.307

3.  Alpha vs. gamma sarcoglycanopathy: DNA tests solve a case from Argentina.

Authors:  S Avila De Salman; A L Taratuto; G Dekomien; R Carrero-Valenzuela
Journal:  Acta Myol       Date:  2007-10

4.  Homozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.

Authors:  Hemakumar M Reddy; Sherifa A Hamed; Monkol Lek; Satomi Mitsuhashi; Elicia Estrella; Michael D Jones; Lane J Mahoney; Anna R Duncan; Kyung-Ah Cho; Daniel G Macarthur; Louis M Kunkel; Peter B Kang
Journal:  Muscle Nerve       Date:  2016-08-24       Impact factor: 3.217

5.  Phenotypic and immunohistochemical characterization of sarcoglycanopathies.

Authors:  Ana F B Ferreira; Mary S Carvalho; Maria Bernadete D Resende; Alda Wakamatsu; Umbertina Conti Reed; Suely Kazue Nagahashi Marie
Journal:  Clinics (Sao Paulo)       Date:  2011       Impact factor: 2.365

6.  A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.

Authors:  Samiah A Al-Zaidy; Vinod Malik; Kelley Kneile; Xiomara Q Rosales; Ana Maria Gomez; Sarah Lewis; Sayaka Hashimoto; Julie Gastier-Foster; Peter Kang; Basil Darras; Louis Kunkel; Jose Carlo; Zarife Sahenk; Steven A Moore; Robert Pyatt; Jerry R Mendell
Journal:  Mol Genet Genomic Med       Date:  2015-01-08       Impact factor: 2.183

7.  A common disease-associated missense mutation in alpha-sarcoglycan fails to cause muscular dystrophy in mice.

Authors:  Kazuhiro Kobuke; Federica Piccolo; Keith W Garringer; Steven A Moore; Eileen Sweezer; Baoli Yang; Kevin P Campbell
Journal:  Hum Mol Genet       Date:  2008-02-05       Impact factor: 6.150

Review 8.  A Journey with LGMD: From Protein Abnormalities to Patient Impact.

Authors:  Dimitra G Georganopoulou; Vasilis G Moisiadis; Firhan A Malik; Ali Mohajer; Tanya M Dashevsky; Shirley T Wuu; Chih-Kao Hu
Journal:  Protein J       Date:  2021-06-10       Impact factor: 2.371

Review 9.  Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.

Authors:  Dorianna Sandonà; Romeo Betto
Journal:  Expert Rev Mol Med       Date:  2009-09-28       Impact factor: 5.600

10.  Concomitant alpha- and gamma-sarcoglycan deficiencies in a Turkish boy with a novel deletion in the alpha-sarcoglycan gene.

Authors:  Gulden Diniz; Hulya Tosun Yildirim; Sarenur Gokben; Gul Serdaroglu; Filiz Hazan; Kanay Yararbas; Ajlan Tukun
Journal:  Case Rep Genet       Date:  2014-06-22
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