Results 141 to 150 of about 4,506 (155)

Mutations in the proteolytic enzyme calpain 3 cause limb-girdle muscular dystrophy type 2A

Cell, 1995
Isabelle Richard, Mayana Zatz, Jay Arnold Tischfield   +2 more
exaly  

Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A

Nature Medicine, 1999
Stephen Baghdiguian, Isabelle Richard, Adolfo López de Munain   +2 more
exaly  

Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 gene

Brain, 2013
Juan J Vilchez, Josep Gámez, Israel Fernandez-Cade   +2 more
exaly  

Clinical and Molecular Characterization of Patients With Limb-Girdle Muscular Dystrophy Type 2I

Archives of Neurology, 2005
Giovanna Cenacchi, Gabriele Siciliano, Corrado Angelini   +2 more
exaly  

Mutations affecting the cytoplasmic functions of the co-chaperone DNAJB6 cause limb-girdle muscular dystrophy

Nature Genetics, 2012
Jaakko Sarparanta, Per Harald Jonson, Christelle Golzio   +2 more
exaly  

β–sarcoglycan: characterization and role in limb–girdle muscular dystrophy linked to 4q12

Nature Genetics, 1995
Isabelle Richard, Jacques S Beckmann, Kevin P Campbell   +2 more
exaly  

DISTINCTION OF BECKER FROM LIMB-GIRDLE MUSCULAR DYSTROPHY BY MEANS OF DYSTROPHIN cDNA PROBES

Lancet, The, 1989
exaly  

Disruption of the β-Sarcoglycan Gene Reveals Pathogenetic Complexity of Limb-Girdle Muscular Dystrophy Type 2E

Molecular Cell, 2000
Kevin P Campbell
exaly  

Cardiac Involvement in Patients With Limb-Girdle Muscular Dystrophy Type 2 and Becker Muscular Dystrophy

Archives of Neurology, 2008
Jens Jakob Thune, John Vissing
exaly  

Gene Delivery for Limb-Girdle Muscular Dystrophy Type 2D by Isolated Limb Infusion

Human Gene Therapy, 2019
Jerry Mendell, Louise Rodino-Klapac, Zarife Sahenk   +2 more
exaly