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Anna Buj‐Bello

Characterization of a multicomponent receptor for GDNF
1996 · James J. S. Treanor, Laurie Goodman, et al. · Nature · 1,070
GDNF is an age-specific survival factor for sensory and autonomic neurons
1995 · Anna Buj-Bello, Vladimir L. Buchman, et al. · Neuron · 410
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Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase
1997 · Anna Buj-Bello, Jimi Adu, et al. · Nature · 291
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
2002 · Anna Buj-Bello, Vincent Laugel, et al. · Proceedings of the National Academy of Sciences · 252
MTM1 mutations in X-linked myotubular myopathy
2000 · Jocelyn Laporte, Val�rie Biancalana, et al. · Human Mutation · 246
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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
2009 · Lama Al-Qusairi, Norbert Weiss, et al. · Proceedings of the National Academy of Sciences · 217
Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy
2014 · Martin K. Childers, Romain Joubert, et al. · Science Translational Medicine · 182
Genotype–phenotype correlations in X-linked myotubular myopathy
2002 · Meriel McEntagart, Gretchen Parsons, et al. · Neuromuscular Disorders · 166
CXorf6 is a causative gene for hypospadias
2006 · Maki Fukami, Yuka Wada, et al. · Nature Genetics · 162
AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
2008 · Anna Buj-Bello, Françoise Fougerousse, et al. · Human Molecular Genetics · 146
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MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
2010 · Alan H. Beggs, Johann Böhm, et al. · Proceedings of the National Academy of Sciences · 135
Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
2003 · Valérie Biancalana, Olivier Caron, et al. · Human Genetics · 128
Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
2007 · Heinz Jungbluth, Haiyan Zhou, et al. · Neuromuscular Disorders · 127
GFRα-4, a New GDNF Family Receptor
1998 · Jane Thompson, Epaminondas Doxakis, et al. · Molecular and Cellular Neuroscience · 93
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
2013 · Michael W. Lawlor, Dustin Armstrong, et al. · Human Molecular Genetics · 87
Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
2011 · Christopher R. Pierson, Ashley N. Dulin-Smith, et al. · Human Molecular Genetics · 79
Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice
2011 · Michael W. Lawlor, Benjamin P. Read, et al. · American Journal Of Pathology · 68
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Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
2012 · James J. Dowling, Romain Joubert, et al. · Disease Models & Mechanisms · 65
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The survival of NGF-dependent but not BDNF-dependent cranial sensory neurons is promoted by several different neurotrophins early in their development
1994 · Anna Buj-Bello, Luzia G. P. Pinon, et al. · Development · 62
Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
2010 · Verity McClelland, Thomas Cullup, et al. · American Journal of Medical Genetics Part A · 53
Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy
1999 · Anna Buj-Bello, Val�rie Biancalana, et al. · Human Mutation · 52
Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment
2012 · Michael W. Lawlor, Matthew S. Alexander, et al. · American Journal Of Pathology · 47
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Differential Muscle Hypertrophy Is Associated with Satellite Cell Numbers and Akt Pathway Activation Following Activin Type IIB Receptor Inhibition in Mtm1 p.R69C Mice
2014 · Michael W. Lawlor, Marissa G. Viola, et al. · American Journal Of Pathology · 42
Differences and Developmental Changes in the Responsiveness of PNS Neurons to GDNF and Neurturin
1999 · Alison Forgie, Epaminondas Doxakis, et al. · Molecular and Cellular Neuroscience · 39
Paracrine Interactions of BDNF Involving NGF-Dependent Embryonic Sensory Neurons
1996 · Michelle Robinson, Anna Buj-Bello, et al. · Molecular and Cellular Neuroscience · 39
Works count: 41
Citation count: 4,349
H-index: 25
I10-index: 30
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