A. Buj‐Bello

发表

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

L. Kunkel, J. Mickelson, A. Beggs, 2010, Proceedings of the National Academy of Sciences.

Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle.

N. Messaddeq, A. Vignaud, R. Joubert, 2013, Human molecular genetics.

Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy

S. Mohammed, V. Biancalana, D. Ruddy, 2010, American journal of medical genetics. Part A.

Recent work has shown that the survival of the nerve growth factor (NGF)-dependent trigeminal ganglion neurons of the mouse embryo is promoted by brain-derived neurotrophic factor (BDNF) and neurotrophin-3 (NT-3) during the early stages of target field innervation

A. Davies, L. Piñón, A. Buj‐Bello, 1994 .

Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene

F. Muntoni, C. Bönnemann, Haiyan Zhou, 2007, Neuromuscular Disorders.

GFRalpha-4, a new GDNF family receptor.

A. Davies, S. Wyatt, V. Buchman, 1998, Molecular and cellular neurosciences.

Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy

R. Grange, A. Beggs, D. Mack, 2014, Science Translational Medicine.

Childers Canine Models of Myotubular Myopathy Gene Therapy Prolongs Survival and Restores Function in Murine and

R. Grange, A. Beggs, D. Mack, 2014 .

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

J. Dowling, A. Beggs, C. Pierson, 2012, Disease Models & Mechanisms.

Leukemia inhibitory factor and ciliary neurotrophic factor in sensory neuron development.

A. Davies, P. Bartlett, M. Murphy, 1996, Perspectives of Developmental Neurobiology.

CXorf6 is a causative gene for hypospadias

G. Camerino, I. Nishino, T. Ogata, 2006, Nature Genetics.

Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment.

Ping Huang, A. Beggs, L. Kunkel, 2012, The American journal of pathology.

Paracrine Interactions of BDNF Involving NGF-Dependent Embryonic Sensory Neurons

A. Davies, M. Robinson, A. Buj‐Bello, 1996, Molecular and Cellular Neuroscience.

Genotype–phenotype correlations in X-linked myotubular myopathy

M. Krawczak, A. Clarke, C. Wallgren‐Pettersson, 2002, Neuromuscular Disorders.

The glossary of prosthodontic terms.

A. Buj-Bello, Sm Morgano, Cw Van Blarcom, 2005, The Journal of prosthetic dentistry.

Gait characteristics in a canine model of X-linked myotubular myopathy

A. Buj-Bello, A. Beggs, V. E. Kelly, 2014, Journal of the Neurological Sciences.

Characterization of a multicomponent receptor for GDNF

A. Buj-Bello, C. Henderson, A. Goddard, 1996, Nature.

Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase

Jimi Adu, A. Davies, V. Buchman, 1997, Nature.

The survival of NGF-dependent but not BDNF-dependent cranial sensory neurons is promoted by several different neurotrophins early in their development.

A. Davies, L. Piñón, A. Buj‐Bello, 1994, Development.

GDNF is an age-specific survival factor for sensory and autonomic neurons

A. Davies, V. Buchman, A. Rosenthal, 1995, Neuron.

T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase

A. Buj-Bello, A. Beggs, J. Mandel, 2009, Proceedings of the National Academy of Sciences.

AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis

A. Buj-Bello, P. Denéfle, A. Beggs, 2008, Human molecular genetics.

Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype

F. Baas, S. Gallati, N. Romero, 2003, Human Genetics.

The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice

Hala G. Zahreddine, A. Buj-Bello, J. Mandel, 2002, Proceedings of the National Academy of Sciences of the United States of America.

MTM1 mutations in X‐linked myotubular myopathy

C. Wallgren‐Pettersson, J. Mandel, W. Kress, 2000, Human mutation.

Characterization of the myotubularin dual specificity phosphatase gene family from yeast to human.

J. Mandel, J. Laporte, C. Kretz, 1998, Human molecular genetics.

Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin

J. Mandel, B. Payrastre, H. Tronchère, 2003, Cellular and Molecular Life Sciences CMLS.

Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation

E. Mercuri, F. Muntoni, C. Wallgren‐Pettersson, 2003, Neuromuscular Disorders.

Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells.

J. Mandel, G. Butler-Browne, D. Furling, 2002, Human molecular genetics.

The myotubularin family: from genetic disease to phosphoinositide metabolism.

J. Mandel, J. Laporte, F. Blondeau, 2001, Trends in genetics : TIG.

Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle

L. Csernoch, J. Bertrand-Michel, K. Poulard, 2013, Pflügers Archiv - European Journal of Physiology.

Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype.

J. Dowling, A. Beggs, D. Chandler, 2012, Human molecular genetics.

Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy

J. Mandel, E. Zanoteli, A. Oliveira, 2005, American journal of medical genetics. Part A.

Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy.

R. Grange, A. Beggs, J. Widrick, 2013, Human molecular genetics.

Differences and Developmental Changes in the Responsiveness of PNS Neurons to GDNF and Neurturin

A. Buj-Bello, A. Davies, S. Wyatt, 1999, Molecular and Cellular Neuroscience.

GFRα-4, a New GDNF Family Receptor

A. Buj-Bello, A. Davies, S. Wyatt, 1998, Molecular and Cellular Neuroscience.

Molecular Pathogenesis of Genetic and Inherited Diseases Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice

A. Buj-Bello, A. Beggs, C. Pierson, 2011 .

Differential muscle hypertrophy is associated with satellite cell numbers and Akt pathway activation following activin type IIB receptor inhibition in Mtm1 p.R69C mice.

Fujun Liu, Lin Yang, Alan H Beggs, 2014, The American journal of pathology.

Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X‐linked myotubular myopathy

A. Buj-Bello, F. Walker, A. Beggs, 2014, Muscle & nerve.

Identification of novel mutations in the MTM1 gene causing severe and mild forms of X‐linked myotubular myopathy

J. Mandel, C. Moutou, V. Biancalana, 1999, Human mutation.

Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle

L. Csernoch, J. Bertrand-Michel, K. Poulard, 2014, Pflügers Archiv - European Journal of Physiology.

MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers

L. Kunkel, J. Mickelson, A. Beggs, 2010, Proceedings of the National Academy of Sciences.

Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models

J. Dowling, A. Beggs, C. Pierson, 2012, Disease Models & Mechanisms.

Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice.

J. Seehra, Ariana Wermer-Colan, A. Buj‐Bello, 2011, The American journal of pathology.