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The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research
Joanne Bullivant
,
Anando Sen
,
Jess Page
,
Robert Graham
,
Heinz Jungbluth
Article dans une revue
hal-04481563v1
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Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
Perry Shieh
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Nancy Kuntz
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James Dowling
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Wolfgang Müller-Felber
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Carsten Bönnemann
Article dans une revue
hal-04482641v1
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Disrupted T‐tubular network accounts for asynchronous calcium release in MTM1‐deficient skeletal muscle
Peter Szentesi
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Beatrix Dienes
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Candice Kutchukian
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Tamas Czirjak
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Ana Buj-Bello
Article dans une revue
hal-04481569v1
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Clémence Labasse
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Guy Brochier
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Ana-Lia Taratuto
,
Bruno Cadot
,
John Rendu
Article dans une revue
hal-03820052v1
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Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders
Jihad El Andari
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Edith Renaud-Gabardos
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Warut Tulalamba
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Jonas Weinmann
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Louise Mangin
Science Advances , 2022, 8 (38)
Article dans une revue
hal-04273243v1
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Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies
Clémence Labasse
,
Guy Brochier
,
Ana-Lia Taratuto
,
Bruno Cadot
,
John Rendu
Article dans une revue
hal-04482636v1
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Recent Progress in Genome Editing for Gene Therapy Applications: The French Perspective
Mario Amendola
,
Aurélie Bedel
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Ana Buj-Bello
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Mathieu Carrara
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Jean-Paul Concordet
Article dans une revue
hal-03420183v1
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Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
Martina Marinello
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Jérémie Cosette
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Caroline Bogni
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Jérôme Denard
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Daniel Stockholm
Article dans une revue
hal-04360377v1
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Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
Martina Marinello
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Jérémie Cosette
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Caroline Bogni
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Jérôme Denard
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Daniel Stockholm
Article dans une revue
hal-04381113v1
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AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy
Jean-Baptiste Dupont
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Jianjun Guo
,
Edith Renaud-Gabardos
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Karine Poulard
,
Virginie Latournerie
Article dans une revue
hal-04481553v1
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AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy
Jean-Baptiste Dupont
,
Jianjun Guo
,
Edith Renaud-Gabardos
,
Karine Poulard
,
Virginie Latournerie
Article dans une revue
hal-04291348v1
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AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy
J. B. Dupont
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J. Guo
,
E. Renaud-Gabardos
,
K. Poulard
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V. Latournerie
Article dans une revue
hal-02880796v1
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X-linked myotubular myopathy
Mélanie Annoussamy
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Charlotte Lilien
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Teresa Gidaro
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Elena Gargaun
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Virginie Chê
Article dans une revue
hal-04481589v1
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Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers
Candice Kutchukian
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Peter Szentesi
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Bruno Allard
,
Ana Buj-Bello
,
Laszlo Csernoch
Article dans une revue
hal-04481577v1
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Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers
Candice Kutchukian
,
Peter Szentesi
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Bruno Allard
,
Ana Buj-Bello
,
Laszlo Csernoch
Article dans une revue
hal-02325585v1
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X-linked myotubular myopathy: A prospective international natural history study
M. Annoussamy
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C. Lilien
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T. Gidaro
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E. Gargaun
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V. Che
Article dans une revue
hal-02880782v1
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Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice
Mirella Lo Scrudato
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Karine Poulard
,
Célia Sourd
,
Stéphanie Tomé
,
Arnaud Klein
Article dans une revue
hal-04481560v1
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Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice
Mirella Lo Scrudato
,
Karine Poulard
,
Célia Sourd
,
Stéphanie Tomé
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Arnaud Klein
Article dans une revue
hal-02177548v1
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Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice
N. Daniele
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C. Moal
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L. Julien
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M. Marinello
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T. Jamet
Article dans une revue
hal-02880793v1
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CONGENITAL MYOPATHIES (CNM)
M. Annoussamy
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C. Lilien
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T. Gidaro
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V. Chê
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U. Schara
Article dans une revue
hal-03158303v1
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Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice
Nathalie Danièle
,
Christelle Moal
,
Laura Julien
,
Martina Marinello
,
Thibaud Jamet
Article dans une revue
hal-04481600v1
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New myotubular myopathy classification
C. Lilien
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M. Annoussamy
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T. Gidaro
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E. Gargaun
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V. Chê
Article dans une revue
hal-03158322v1
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High-throughput transcriptome analysis provides new indicators of gene therapy efficacy in XLMTM dogs
J. Dupont
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J. Guo
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J. Gray
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A. Buj-Bello
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M. Childers
Article dans une revue
hal-03158351v1
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Long‐term effects of systemic gene therapy in a canine model of myotubular myopathy
Matthew Elverman
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Melissa Goddard
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David Mack
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Jessica Snyder
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Michael Lawlor
Article dans une revue
hal-04481605v1
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Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches
Virginie Mariot
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Romain Joubert
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Christophe Hourdé
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Léonard Feasson
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Michael Hanna
Article dans une revue
hal-02167071v1
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Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches
V. Mariot
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R. Joubert
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C. Hourdé
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L. Féasson
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M. Hanna
Article dans une revue
hal-03158871v1
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Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
David Mack
,
Karine Poulard
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Melissa Goddard
,
Virginie Latournerie
,
Jessica Snyder
Article dans une revue
hal-02179363v1
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Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
David Mack
,
Karine Poulard
,
Melissa Goddard
,
Virginie Latournerie
,
Jessica Snyder
Article dans une revue
hal-04481609v1
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Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failure
V. Mariot
,
R. Joubert
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C. Hourdé
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L. Féasson
,
M. Hanna
Article dans une revue
hal-03158311v1
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Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches
Virginie Mariot
,
Romain Joubert
,
Christophe Hourdé
,
Léonard Féasson
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Michael Hanna
Article dans une revue
hal-04481602v1
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Antisense targeting of dynamin 2 by intramuscular delivery of vivo-morpholinos rescues the pathology in a murine model of myotubular myopathy
N. Danièle
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C. Bogni
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L. Julien
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A. Piet
,
A. Vignaud
Article dans une revue
hal-03158867v1
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Long-term effects of systemic gene therapy in a canine model of myotubular myopathy
Matthew Elverman
,
Melissa Goddard
,
David Mack
,
Jessica Snyder
,
Michael Lawlor
Article dans une revue
hal-02179358v1
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Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
M. Annoussamy
,
C. Lilien
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T. Gidaro
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E. Gargaun
,
V. Chê
Article dans une revue
hal-03158315v1
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AAV-mediated MTMR2 delivery prolongs survival and rescues the pathology in a mouse model of myotubular myopathy
N. Danièle
,
C. Moal
,
L. Julien
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T. Jamet
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R. Joubert
Article dans une revue
hal-03158877v1
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498. Prolonged Benefit from Systemic rAAV8 in a Canine Model of Myotubular Myopathy
Matthew Elverman
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David Mack
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Melissa Goddard
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Jessica Snyder
,
Robert Grange
Article dans une revue
hal-03158883v1
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Phosphatidylinositol 3-kinase inhibition restores Ca 2+ release defects and prolongs survival in myotubularin-deficient mice
Candice Kutchukian
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Mirella Lo Scrudato
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Yves Tourneur
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Karine Poulard
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Alban Vignaud
Proceedings of the National Academy of Sciences of the United States of America, 2016, 113 (50), pp.14432-14437. ⟨10.1073/pnas.1604099113⟩
Article dans une revue
hal-04481617v1
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X-linked myotubular myopathy in ambulant patients
M. Annoussamy
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V. Chë
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C. Lilien
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T. Gidaro
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A. Daron
Article dans une revue
hal-03158878v1
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Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons: Erratum
Ana Buj-Bello
Article dans une revue
hal-03158886v1
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PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models
N. Sabha
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J. R. Volpatti
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H. Gonorazky
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A. Reifler
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A. E. Davidson
Article dans une revue
hal-02881017v1
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Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy
R. Mansour
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S. Severin
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J. M. Xuereb
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M. P. Gratacap
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J. Laporte
Article dans une revue
hal-02880994v1
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PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models
Nesrin Sabha
,
Jonathan Volpatti
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Hernan Gonorazky
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Aaron Reifler
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Ann Davidson
Article dans une revue
hal-04481622v1
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Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy
Rana Mansour
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Sonia Severin
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Jean-Marie Xuereb
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Marie-Pierre Gratacap
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Jocelyn Laporte
Article dans une revue
hal-04481651v1
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Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
Michael Lawlor
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Alan Beggs
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Ana Buj-Bello
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Martin Childers
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James Dowling
Article dans une revue
inserm-04481509v1
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Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy
Nicole Armbruster
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Annalisa Lattanzi
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Matthieu Jeavons
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Laetitia van Wittenberghe
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Bernard Gjata
Article dans une revue
hal-04481620v1
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Baseline data from patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
M. Annoussamy
,
C. Lilien
,
T. Gidaro
,
E. Gargaun
,
V. Chê
Article dans une revue
hal-03158286v1
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Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy
Nicole Armbruster
,
Annalisa Lattanzi
,
Matthieu Jeavons
,
Laetitia van Wittenberghe
,
Bernard Gjata
Article dans une revue
hal-01487810v1
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503. Minimally Effective Dose of Systemic AAV8-MTM1 Needed To Prolong Survival and Correct Severe Muscle Pathology in a Canine Model of X-Linked Myotubular Myopathy
David Mack
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Karine Poulard
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Melissa Goddard
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Jessica Snyder
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Robert Grange
Article dans une revue
hal-03159330v1
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576. A Novel Gene Editing-Based Strategy for Myotonic Dystrophy Type 1
Mirella Lo Scrudato
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Samia Martin
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Geneviève Gourdon
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Denis Furling
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Ana Buj-Bello
Article dans une revue
hal-03159325v1
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Spatially Localized Disruptions of Voltage Activated Calcium Release in Mtm1-Deficient Muscle Fibers
Candice Kutchukian
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Karine Poulard
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Anna Buj-Bello
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Vincent Jacquemond
Article dans une revue
hal-03159333v1
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Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs
M. K. Childers
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A. H. Beggs
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A. Buj-Bello
Article dans une revue
hal-02880973v1
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Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs
Martin K. Childers
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Alan H. Beggs
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Ana Buj-Bello
Annals of translational medicine, 2015
Article dans une revue
hal-04482622v1
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Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study
N. R'Guiba
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M. Annoussamy
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R. Cardas
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C. Lilien
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G. Ollivier
Article dans une revue
hal-03159323v1
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Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy
Aarti Sarwal
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Michael Cartwright
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Francis Walker
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Erin Mitchell
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Anna Buj-Bello
Article dans une revue
hal-03158246v1
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Phosphoinositide substrates of myotubularin affect voltage-activated Ca(2)(+) release in skeletal muscle
Estela González Rodríguez
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Romain Lefebvre
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Dóra Bodnár
,
Claude Legrand
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Peter Szentesi
Article dans une revue
hal-02881139v1
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Gait characteristics in a canine model of X-linked myotubular myopathy
Melissa Goddard
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Emily Burlingame
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Alan H. Beggs
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Anna Buj-Bello
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Martin K. Childers
Article dans une revue
hal-02180820v1
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Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy
Martin Childers
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Romain Joubert
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Karine Poulard
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Christelle Moal
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Robert Grange
Article dans une revue
hal-04481698v1
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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
Michael Lawlor
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Marissa Viola
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Hui Meng
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Rachel Edelstein
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Fujun Liu
Article dans une revue
hal-04481693v1
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Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X‐linked myotubular myopathy
Aarti Sarwal
,
Michael Cartwright
,
Francis Walker
,
Erin Mitchell
,
Anna Buj-Bello
Article dans une revue
hal-04481686v1
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Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy
A. Sarwal
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M. S. Cartwright
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F. O. Walker
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E. Mitchell
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A. Buj-Bello
Article dans une revue
hal-02881170v1
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Gait characteristics in a canine model of X-linked myotubular myopathy
Melissa Goddard
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Emily Burlingame
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Alan Beggs
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Anna Buj-Bello
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Martin Childers
Article dans une revue
hal-04481683v1
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G.P.39
M. Annoussamy
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H. Landy
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D. Ramsdell
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M. Nelken
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F. Muntoni
Article dans une revue
hal-03159338v1
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G.P.43
L. Buscara
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R. Joubert
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C. Moal
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K. Poulard
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S. Martín
Article dans une revue
hal-03159341v1
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Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy
Martin Childers
,
Romain Joubert
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Karine Poulard
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Christel Moal
,
Robert Grange
Article dans une revue
hal-02180848v1
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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
M. W. Lawlor
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M. G. Viola
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H. Meng
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R. V. Edelstein
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Franklin Liu
Article dans une revue
hal-02881169v1
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198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands
Heinz Jungbluth
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Carina Wallgren-Pettersson
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Jocelyn Laporte
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Ana Buj-Bello
Article dans une revue
hal-03158200v1
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Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle
Romain Joubert
,
Alban Vignaud
,
Mickaël Le
,
Christelle Moal
,
Nadia Messaddeq
Article dans une revue
hal-04481705v1
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Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
M. W. Lawlor
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D. Armstrong
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M. G. Viola
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J. J. Widrick
,
H. Meng
Article dans une revue
hal-02881184v1
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Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle
Estela González Rodríguez
,
Romain Lefebvre
,
Dóra Bodnár
,
Claude Legrand
,
Peter Szentesi
Article dans une revue
hal-04481702v1
|
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O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy
R. Joubert
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C. Moal
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A. Vignaud
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S. Martín
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I. Richard
Article dans une revue
hal-03159348v1
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Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle
R. Joubert
,
A. Vignaud
,
M. Le
,
C. Moal
,
N. Messaddeq
Article dans une revue
hal-02881178v1
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Site-specific Mtm1 mutagenesis by an AAV-Cre vector reveals that myotubularin is essential in adult muscle
Romain Joubert
,
Alban Vignaud
,
Mickaël Le
,
Christelle Moal
,
Nadia Messaddeq
Article dans une revue
hal-04481707v1
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P.4.2 MTMR2 ameliorates the phenotype of myotubular myopathy in mice
N. Danièle
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T. Jamet
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C. Moal
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R. Joubert
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N. Messaddeq
Article dans une revue
hal-03159360v1
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Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
Christopher Pierson
,
Ashley Dulin-Smith
,
Ashley Durban
,
Morgan Marshall
,
Jordan Marshall
Article dans une revue
hal-04481743v1
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Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
J. Dowling
,
R. Joubert
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S. Low
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A. Durban
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N. Messaddeq
Article dans une revue
hal-03157875v1
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Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment
Michael Lawlor
,
Matthew Alexander
,
Marissa Viola
,
Hui Meng
,
Romain Joubert
Article dans une revue
hal-04481713v1
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Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
James Dowling
,
Romain Joubert
,
Sean Low
,
Ashley Durban
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Nadia Messaddeq
Article dans une revue
hal-04481738v1
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Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
J. J. Dowling
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R. Joubert
,
S. E. Low
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A. N. Durban
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N. Messaddeq
Article dans une revue
hal-02881204v1
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Modeling the human MTM1 p.R69C mutation in murine Mtm1 results in exon 4 skipping and a less severe myotubular myopathy phenotype
C. R. Pierson
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A. N. Dulin-Smith
,
A. N. Durban
,
M. L. Marshall
,
J. T. Marshall
Article dans une revue
hal-02881147v1
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Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment
M. W. Lawlor
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M. S. Alexander
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M. G. Viola
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H. Meng
,
R. Joubert
Article dans une revue
hal-02881205v1
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Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice
Michael Lawlor
,
Benjamin Read
,
Rachel Edelstein
,
Nicole Yang
,
Christopher Pierson
Article dans une revue
hal-04481748v1
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Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice
M. W. Lawlor
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B. P. Read
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R. Edelstein
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N. Yang
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C. R. Pierson
Article dans une revue
hal-02881134v1
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MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
Alan Beggs
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Johann Böhm
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Elizabeth Snead
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Marek Kozlowski
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Marie Maurer
Proceedings of the National Academy of Sciences of the United States of America, 2010, 107 (33), pp.14697-14702. ⟨10.1073/pnas.1003677107⟩
Article dans une revue
hal-04481752v1
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P1.44 Neuromuscular junction abnormalities and myotubular myopathy
J.J. Dowling
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A.N. Dulin-Smith
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K. Poulard
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L. Fries
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A. Buj-Bello
Article dans une revue
hal-03159367v1
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Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
Verity Mcclelland
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Thomas Cullup
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Istvan Bodi
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Deborah Ruddy
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Anna Buj-Bello
Article dans une revue
hal-04481753v1
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Vici syndrome associated with sensorineural hearing loss and evidence of neuromuscular involvement on muscle biopsy
Verity Mcclelland
,
Thomas Cullup
,
Istvan Bodi
,
Deborah Ruddy
,
Anna Buj-Bello
Article dans une revue
hal-03157933v1
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MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
Alan H. Beggs
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Johann Böhm
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Elizabeth Snead
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Marek Kozlowski
,
Marie Maurer
Proceedings of the National Academy of Sciences of the United States of America, 2010, 107 (33), pp.14697-702. ⟨10.1073/pnas.1003677107⟩
Article dans une revue
inserm-00511900v1
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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
L. Al-Qusairi
,
N. Weiss
,
A. Toussaint
,
C. Berbey
,
N. Messaddeq
Proceedings of the National Academy of Sciences of the United States of America, 2009, 106 (44), pp.18763-18768. ⟨10.1073/PNAS.0900705106⟩
Article dans une revue
hal-03157453v1
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G.P.12.02 T-tubule disorganisation and defective excitation–contraction coupling in muscle fibres lacking myotubularin lipid phosphatase
L. Al-Qusairi
,
N. Weiss
,
C. Berbey
,
N. Messaddeq
,
C. Kretz
Article dans une revue
hal-03159382v1
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T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase
Lama Al-Qusairi
,
Norbert Weiss
,
Anne Toussaint
,
Céline Berbey
,
Nadia Messaddeq
Proceedings of the National Academy of Sciences of the United States of America, 2009, 106 (44), pp.18763-18768. ⟨10.1073/pnas.0900705106⟩
Article dans une revue
hal-04481757v1
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T.P.5.05 Muscle-specific expression of myotubularin ameliorates the phenotype of targeted muscles in mouse models of X-linked myotubular myopathy
T. Jamet
,
F. Fougerousse
,
N. Guerchet
,
A. Douar
,
J.L. Mandel
Article dans une revue
hal-03159372v1
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Impaired Sarcoplasmic Reticulum Calcium Release In Skeletal Muscle Fibers From Myotubularin-Deficient Mice
Norbert Weiss
,
Lama Al-Qusairi
,
Celine Berbey
,
Bruno Allard
,
Jean Louis Mandel
Article dans une revue
hal-03158293v1
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G.P.9.11 Histopathological findings in Vici syndrome
V.M. Mcclelland
,
O. Miller
,
W. Jan
,
L. Amaya
,
A. Buj-Bello
Article dans une revue
hal-03159385v1
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AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
Anna Buj-Bello
,
Françoise Fougerousse
,
Yannick Schwab
,
Nadia Messaddeq
,
Danièle Spehner
Article dans une revue
inserm-00311078v1
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AAV-mediated intramuscular delivery of myotubularin corrects the myotubular myopathy phenotype in targeted murine muscle and suggests a function in plasma membrane homeostasis
Anna Buj-Bello
,
Françoise Fougerousse
,
Yannick Schwab
,
Nadia Messaddeq
,
Danièle Spehner
Article dans une revue
hal-04481760v1
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Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene
Heinz Jungbluth
,
Haiyan Zhou
,
Caroline Sewry
,
Stephanie Robb
,
Susan Treves
Article dans une revue
hal-04481762v1
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Centronuclear myopathy due to a de novo dominant mutation in the skeletal muscle ryanodine receptor (RYR1) gene.
Heinz Jungbluth
,
Haiyan Zhou
,
Caroline A Sewry
,
Stephanie Robb
,
Susan Treves
Article dans une revue
hal-00189980v1
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C.P.1.10 Molecular mechanisms underlying X-linked myotubular myopathy
D. Sanoudou
,
C. Kretz
,
A. Beggs
,
J. Laporte
,
A. Buj-Bello
Article dans une revue
hal-03159387v1
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CXorf6 is a causative gene for hypospadias.
Maki Fukami
,
Yuka Wada
,
Kanako Miyabayashi
,
Ichizo Nishino
,
Tomonobu Hasegawa
Article dans une revue
hal-00187913v1
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CXorf6 is a causative gene for hypospadias
Maki Fukami
,
Yuka Wada
,
Kanako Miyabayashi
,
Ichizo Nishino
,
Tomonobu Hasegawa
Article dans une revue
hal-04481769v1
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Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy.
Edmar Zanoteli
,
Jocelyn Laporte
,
José C C Rocha
,
Christine Kretz
,
Acary S B Oliveira
Article dans une revue
hal-00187798v1
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Deletion of both MTM1 and MTMR1 genes in a boy with myotubular myopathy
Edmar Zanoteli
,
Jocelyn Laporte
,
José C.C. Rocha
,
Christine Kretz
,
Acary S.B. Oliveira
Article dans une revue
hal-04481772v1
|
|
118th ENMC International Workshop on Advances in Myotubular Myopathy. 26-28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)
E Bertini
,
Valérie Biancalana
,
A Bolino
,
Anna Buj-Bello
,
M Clague
Article dans une revue
hal-04122967v1
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118th ENMC International Workshop on Advances in Myotubular Myopathy. 26?28 September 2003, Naarden, The Netherlands. (5th Workshop of the International Consortium on Myotubular Myopathy)
E Bertini
,
Ana Buj-Bello
Article dans une revue
hal-03157967v1
|
|
Myogenic defects in myotonic dystrophy
Jeffrey Amack
,
Mani Mahadevan
,
Ana Buj-Bello
Article dans une revue
hal-03157687v1
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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
Valérie Biancalana
,
Olivier Caron
,
Sabina Gallati
,
Frank Baas
,
Wolfram Kress
Article dans une revue
hal-04133445v1
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Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype
Valérie Biancalana
,
Olivier Caron
,
Sabina Gallati
,
Frank Baas
,
Wolfram Kress
Article dans une revue
hal-04481790v1
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|
Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin
H. Tronchère
,
A. Buj-Bello
,
J.-L. Mandel
,
B. Payrastre
Article dans une revue
hal-03157959v1
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Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin
Ana Buj-Bello
,
J.-L. Mandel
,
B. Payrastre
Article dans une revue
hal-04481785v1
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Early and severe presentation of X-linked myotubular myopathy in a girl with skewed X-inactivation
H Jungbluth
,
C.A Sewry
,
Ana Buj-Bello
,
M Kristiansen
,
K.H Ørstavik
Article dans une revue
hal-04481794v1
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|
Genotype–phenotype correlations in X-linked myotubular myopathy
Meriel Mcentagart
,
Gretchen Parsons
,
Anna Buj-Bello
,
Valérie Biancalana
,
Iain Fenton
Article dans une revue
hal-04481792v1
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|
Genotype–phenotype correlations in X-linked myotubular myopathy
Meriel Mcentagart
,
Gretchen Parsons
,
Anna Buj-Bello
,
Valérie Biancalana
,
Iain Fenton
Article dans une revue
hal-03157667v1
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|
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
Anna Buj-Bello
,
Vincent Laugel
,
Nadia Messaddeq
,
Hala Zahreddine
,
Jocelyn Laporte
Proceedings of the National Academy of Sciences of the United States of America, 2002, 99 (23), pp.15060-15065. ⟨10.1073/pnas.212498399⟩
Article dans une revue
hal-04481797v1
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Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells
Ana Buj-Bello
,
Furling D
,
Helene Tronchere
,
Jocelyn Laporte
,
Thierry Lerouge
Article dans une revue
hal-04481805v1
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|
The lipid phosphatase myotubularin is essential for skeletal muscle maintenance but not for myogenesis in mice
A. Buj-Bello
,
V. Laugel
,
N. Messaddeq
,
H. Zahreddine
,
J. Laporte
Proceedings of the National Academy of Sciences of the United States of America, 2002, 99 (23), pp.15060-15065. ⟨10.1073/PNAS.212498399⟩
Article dans une revue
hal-03156250v1
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|
Paracrine interactions of BDNF involving NGF-dependent embryonic sensory neurons
Michelle Robinson
,
Ana Buj-Bello
,
Alun M. Davies
Molecular and Cellular Neuroscience, 2002
Article dans une revue
hal-04481929v1
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|
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells
A. Buj-Bello
Article dans une revue
hal-03157458v1
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|
The myotubularin family: from genetic disease to phosphoinositide metabolism
J Laporte
,
François Blondeau
,
Anna Buj-Bello
,
Jean-Louis Mandel
Article dans une revue
hal-04481813v1
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|
The myotubularin family: from genetic disease to phosphoinositide metabolism
J Laporte
,
Ana Buj-Bello
,
J.-L. Mandel
,
F. Blondeau
Article dans une revue
hal-03157671v1
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|
MTM1 mutations in X-linked myotubular myopathy
Jocelyn Laporte
,
Valérie Biancalana
,
Stephan Tanner
,
Wolfram Kress
,
Vreni Schneider
Article dans une revue
hal-03156248v1
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|
MTM1 mutations in X-linked myotubular myopathy
Jocelyn Laporte
,
Stephan Tanner
,
Wolfram Kress
,
Vreni Schneider
,
Carina Wallgren-Pettersson
Article dans une revue
hal-04481821v1
|
|
Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy
Anna Buj-Bello
,
Jocelyn Laporte
,
Jean-Louis Mandel
Article dans une revue
hal-04481826v1
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|
Differences and Developmental Changes in the Responsiveness of PNS Neurons to GDNF and Neurturin
Alison Forgie
,
Epaminondas Doxakis
,
Anna Buj-Bello
,
Sean Wyatt
,
Alun Davies
Article dans une revue
hal-04481830v1
|
|
Differences and Developmental Changes in the Responsiveness of PNS Neurons to GDNF and Neurturin
Alison Forgie
,
Epaminondas Doxakis
,
Anna Buj-Bello
,
Sean Wyatt
,
Alun Davies
Article dans une revue
hal-03157879v1
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|
Identification of novel mutations in theMTM1 gene causing severe and mild forms of X-linked myotubular myopathy
Anna Buj-Bello
,
Valérie Biancalana
,
Céline Moutou
,
Jocelyn Laporte
,
Jean-Louis Mandel
Article dans une revue
hal-03157883v1
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|
Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human
J. Laporte
,
F. Blondeau
,
A. Buj-Bello
,
D. Tentler
,
C. Kretz
Article dans une revue
hal-03157511v1
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|
GFRα-4, a New GDNF Family Receptor
Jane Thompson
,
Epaminondas Doxakis
,
Luzia G.P. Piñón
,
Philip Strachan
,
Anna Buj-Bello
Article dans une revue
hal-03157674v1
|
|
Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human
J. Laporte
,
F. Blondeau
,
Ana Buj-Bello
,
D. Tentler
,
C. Kretz
Article dans une revue
hal-04481835v1
|
|
GFRα-4, a New GDNF Family Receptor
Jane Thompson
,
Epaminondas Doxakis
,
Luzia G.P. Piñón
,
Philip Strachan
,
Anna Buj-Bello
Article dans une revue
hal-04481911v1
|
|
Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase
Anna Buj-Bello
,
Jimi Adu
,
Luzia Piñón
,
Antony Horton
,
Jane Thompson
Article dans une revue
hal-03156247v1
|
|
Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase
Anna Buj-Bello
,
Jimi Adu
,
Luzia Piñón
,
Antony Horton
,
Jane Thompson
Article dans une revue
hal-04481913v1
|
|
Paracrine Interactions of BDNF Involving NGF-Dependent Embryonic Sensory Neurons
Michelle Robinson
,
Anna Buj-Bello
,
Alun Davies
Article dans une revue
hal-04481920v1
|
|
Characterization of a multicomponent receptor for GDNF
James Treanor
,
Laurie Goodman
,
Frederic de Sauvage
,
Donna Stone
,
Kris Poulsen
Article dans une revue
hal-04481918v1
|
|
Leukemia inhibitory factor and ciliary neurotrophic factor in sensory neuron development
Anthony R Horton
,
Alun M. Davies
,
Ana Buj-Bello
,
P Bartlett
,
M Murphy
Perspectives on developmental neurobiology, 1996, 4 (1), pp.35-38
Article dans une revue
hal-04482596v1
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|
Characterization of a multicomponent receptor for GDNF
James Treanor
,
Laurie Goodman
,
Frederic de Sauvage
,
Donna Stone
,
Kris Poulsen
Article dans une revue
hal-03156243v1
|
|
Paracrine Interactions of BDNF Involving NGF-Dependent Embryonic Sensory Neurons
Michelle Robinson
,
Anna Buj-Bello
,
Alun Davies
Article dans une revue
hal-03157694v1
|
|
GDNF is an age-specific survival factor for sensory and autonomic neurons
Anna Buj-Bello
,
Vladimir Buchman
,
Antony Horton
,
Arnon Rosenthal
,
Alun Davies
Article dans une revue
hal-03156246v1
|
|
GDNF is an age-specific survival factor for sensory and autonomic neurons
Anna Buj-Bello
,
Vladimir Buchman
,
Antony Horton
,
Arnon Rosenthal
,
Alun Davies
Article dans une revue
hal-04481921v1
|
|
The survival of NGF-dependent but not BDNF-dependent cranial sensory neurons is promoted by several different neurotrophins early in their development
Anna Buj-Bello
,
Luzia Pinon
,
Alun Davies
Article dans une revue
hal-04481924v1
|
|
The survival of NGF-dependent but not BDNF-dependent cranial sensory neurons is promoted by several different neurotrophins early in their development
Anna Buj-Bello
,
Luzia Pinon
,
Alun Davies
Article dans une revue
hal-04482600v1
|