Literature DB >> 12746421

Novel sarcoglycan gene mutations in a large cohort of Italian patients.

C Boito1, M Fanin, G Siciliano, C Angelini, E Pegoraro.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2003        PMID： 12746421      PMCID： PMC1735456          DOI： 10.1136/jmg.40.5.e67

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


× No keyword cloud information.
  8 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.  Identification of an intragenic deletion in the SGCB gene through a re-evaluation of negative next generation sequencing results.

Authors:  Teresa Giugliano; Marina Fanin; Marco Savarese; Giulio Piluso; Corrado Angelini; Vincenzo Nigro
Journal:  Neuromuscul Disord       Date:  2016-03-31       Impact factor: 4.296

3.  Clinical and genetic spectrum of a large cohort of patients with δ-sarcoglycan muscular dystrophy.

Authors:  Jorge Alonso-Pérez; Lidia González-Quereda; Claudio Bruno; Chiara Panicucci; Afagh Alavi; Shahriar Nafissi; Yalda Nilipour; Edmar Zanoteli; Lucas Michielon de Augusto Isihi; Béla Melegh; Kinga Hadzsiev; Nuria Muelas; Juan J Vílchez; Mario Emilio Dourado; Naz Kadem; Gultekin Kutluk; Muhammad Umair; Muhammad Younus; Elena Pegorano; Luca Bello; Thomas O Crawford; Xavier Suárez-Calvet; Ana Töpf; Michela Guglieri; Chiara Marini-Bettolo; Pia Gallano; Volker Straub; Jordi Díaz-Manera
Journal:  Brain       Date:  2022-04-18       Impact factor: 15.255

4.  Carrier frequency of the c.525delT mutation in the SGCG gene and estimated prevalence of limb girdle muscular dystrophy type 2C among the Moroccan population.

Authors:  Fatiha El Kerch; Ilham Ratbi; Aziza Sbiti; Fatima-Zohra Laarabi; Amina Barkat; Abdelaziz Sefiani
Journal:  Genet Test Mol Biomarkers       Date:  2014-02-19

5.  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

6.  Repairing folding-defective α-sarcoglycan mutants by CFTR correctors, a potential therapy for limb-girdle muscular dystrophy 2D.

Authors:  Marcello Carotti; Justine Marsolier; Michela Soardi; Elisa Bianchini; Chiara Gomiero; Chiara Fecchio; Sara F Henriques; Romeo Betto; Roberta Sacchetto; Isabelle Richard; Dorianna Sandonà
Journal:  Hum Mol Genet       Date:  2018-03-15       Impact factor: 6.150

Review 7.  Sarcoglycanopathies: molecular pathogenesis and therapeutic prospects.

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

8.  Limb-girdle muscular dystrophy subtypes: First-reported cohort from northeastern China.

Authors:  Omar Abdulmonem Mahmood; Xinmei Jiang; Qi Zhang
Journal:  Neural Regen Res       Date:  2013-07-15       Impact factor: 5.135
  8 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.