Literature DB >> 16650086

Screening of the CAPN3 gene in patients with possible LGMD2A.

Martin Krahn, Rafaelle Bernard, Christophe Pecheux, El Hadi Hammouda, Bruno Eymard, Adolfo Lopez de Munain, Anna Maria Cobo, Norma Romero, Andoni Urtizberea, France Leturcq, Nicolas Levy.   

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Year:  2006        PMID： 16650086     DOI： 10.1111/j.1399-0004.2006.00603.x

Source DB:  PubMed          Journal:  Clin Genet        ISSN： 0009-9163            Impact factor:   4.438


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  9 in total

1.  European muscle MRI study in limb girdle muscular dystrophy type R1/2A (LGMDR1/LGMD2A).

Authors:  Andrea Barp; Pascal Laforet; Luca Bello; Giorgio Tasca; John Vissing; Mauro Monforte; Enzo Ricci; Ariane Choumert; Tanya Stojkovic; Edoardo Malfatti; Elena Pegoraro; Claudio Semplicini; Roberto Stramare; Olivier Scheidegger; Jana Haberlova; Volker Straub; Chiara Marini-Bettolo; Nicoline Løkken; Jordi Diaz-Manera; Jon A Urtizberea; Eugenio Mercuri; Martin Kynčl; Maggie C Walter; Robert Y Carlier
Journal:  J Neurol       Date:  2019-09-25       Impact factor: 4.849

2.  Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Authors:  Samya Chakravorty; Babi Ramesh Reddy Nallamilli; Satish Vasant Khadilkar; Madhu Bala Singla; Ashish Bhutada; Rashna Dastur; Pradnya Satish Gaitonde; Laura E Rufibach; Logan Gloster; Madhuri Hegde
Journal:  Front Neurol       Date:  2020-11-05       Impact factor: 4.086

3.  Characterization of novel CAPN3 isoforms in white blood cells: an alternative approach for limb-girdle muscular dystrophy 2A diagnosis.

Authors:  L Blázquez; M Azpitarte; A Sáenz; M Goicoechea; D Otaegui; X Ferrer; I Illa; E Gutierrez-Rivas; J J Vilchez; A López de Munain
Journal:  Neurogenetics       Date:  2008-06-19       Impact factor: 2.660

4.  Calpain 3 is a rapid-action, unidirectional proteolytic switch central to muscle remodeling.

Authors:  Antoine de Morrée; David Lutje Hulsik; Antonietta Impagliazzo; Herman H H B M van Haagen; Paula de Galan; Alexandra van Remoortere; Peter A C 't Hoen; Gertjan B van Ommen; Rune R Frants; Silvère M van der Maarel
Journal:  PLoS One       Date:  2010-08-04       Impact factor: 3.240

5.  Transcriptional and translational effects of intronic CAPN3 gene mutations.

Authors:  Anna Chiara Nascimbeni; Marina Fanin; Elisabetta Tasca; Corrado Angelini
Journal:  Hum Mutat       Date:  2010-09       Impact factor: 4.878

6.  SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.

Authors:  Lea Papić; Dirk Fischer; Slave Trajanoski; Romana Höftberger; Carina Fischer; Thomas Ströbel; Wolfgang M Schmidt; Reginald E Bittner; Maria Schabhüttl; Karin Gruber; Thomas R Pieber; Andreas R Janecke; Michaela Auer-Grumbach
Journal:  Eur J Med Genet       Date:  2010-12-21       Impact factor: 2.708

7.  Modeling Patient-Specific Muscular Dystrophy Phenotypes and Therapeutic Responses in Reprogrammed Myotubes Engineered on Micromolded Gelatin Hydrogels.

Authors:  Florian Barthélémy; Jeffrey W Santoso; Laura Rabichow; Rongcheng Jin; Isaiah Little; Stanley F Nelson; Megan L McCain; M Carrie Miceli
Journal:  Front Cell Dev Biol       Date:  2022-04-06

8.  Correlations between clinical severity, genotype and muscle pathology in limb girdle muscular dystrophy type 2A.

Authors:  M Fanin; L Nardetto; A C Nascimbeni; E Tasca; M Spinazzi; R Padoan; C Angelini
Journal:  J Med Genet       Date:  2007-05-25       Impact factor: 6.318

9.  Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.

Authors:  Mats I Nilsson; Lauren G Macneil; Yu Kitaoka; Fatimah Alqarni; Rahul Suri; Mahmood Akhtar; Maria E Haikalis; Pavneet Dhaliwal; Munim Saeed; Mark A Tarnopolsky
Journal:  PLoS One       Date:  2014-07-31       Impact factor: 3.240
  9 in total

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