Anna Buj‐Bello
Genethon (France)(FR)
Publications by Year
Research Areas
Cellular transport and secretion, Muscle Physiology and Disorders, Nerve injury and regeneration, RNA modifications and cancer, Cardiomyopathy and Myosin Studies
Most-Cited Works
- → Characterization of a multicomponent receptor for GDNF(1996)1,095 cited
- → GDNF is an age-specific survival factor for sensory and autonomic neurons(1995)407 cited
- → Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase(1997)297 cited
- → MTM1 mutations in X-linked myotubular myopathy(2000)227 cited
- → T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase(2009)182 cited
- → Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy(2014)168 cited
- → CXorf6 is a causative gene for hypospadias(2006)167 cited
- → Genotype–phenotype correlations in X-linked myotubular myopathy(2002)152 cited
- → AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis(2008)126 cited
- → Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype(2003)119 cited