|
Spastin regulates ER-mitochondrial contact sites and mitochondrial homeostasis
Amelie Raby
,
Sonia Missiroli
,
Peggy Sanatine
,
Dominique Langui
,
Julien Pansiot
et al.
Article dans une revue
(data paper)
hal-04693917
v1
|
|
The myotubular and centronuclear myopathy patient registry: a multifunctional tool for translational research
Joanne Bullivant
,
Anando Sen
,
Jess Page
,
Robert Graham
,
Heinz Jungbluth
et al.
Article dans une revue
hal-04481563
v1
|
|
Disrupted T-tubular network accounts for asynchronous calcium release in MTM1 deficient skeletal muscle
Peter Szentesi
,
Beatrix Dienes
,
Candice Kutchukian
,
Tamas Czirjak
,
Ana Buj-Bello
et al.
Article dans une revue
hal-04235120
v1
|
|
Safety and efficacy of gene replacement therapy for X-linked myotubular myopathy (ASPIRO): a multinational, open-label, dose-escalation trial
Perry Shieh
,
Nancy Kuntz
,
James Dowling
,
Wolfgang Müller-Felber
,
Carsten Bönnemann
et al.
Article dans une revue
hal-04482641
v1
|
|
Disrupted T‐tubular network accounts for asynchronous calcium release in MTM1‐deficient skeletal muscle
Peter Szentesi
,
Beatrix Dienes
,
Candice Kutchukian
,
Tamas Czirjak
,
Ana Buj-Bello
et al.
Article dans une revue
hal-04481569
v1
|
|
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
et al.
Article dans une revue
hal-03820052
v1
|
|
Semirational bioengineering of AAV vectors with increased potency and specificity for systemic gene therapy of muscle disorders
Jihad El Andari
,
Edith Renaud-Gabardos
,
Warut Tulalamba
,
Jonas Weinmann
,
Louise Mangin
et al.
Article dans une revue
hal-04273243
v1
|
|
Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
Martina Marinello
,
Jérémie Cosette
,
Caroline Bogni
,
Jérôme Denard
,
Daniel Stockholm
et al.
Article dans une revue
hal-04360377
v1
|
|
Characterization of Neuromuscular Junctions in Mice by Combined Confocal and Super-Resolution Microscopy
Martina Marinello
,
Jérémie Cosette
,
Caroline Bogni
,
Jérôme Denard
,
Daniel Stockholm
et al.
Article dans une revue
hal-04381113
v1
|
|
Recent Progress in Genome Editing for Gene Therapy Applications: The French Perspective
Mario Amendola
,
Aurélie Bedel
,
Ana Buj-Bello
,
Mathieu Carrara
,
Jean-Paul Concordet
et al.
Article dans une revue
hal-03420183
v1
|
|
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
et al.
Article dans une revue
hal-04291348
v1
|
|
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
et al.
Article dans une revue
hal-04481553
v1
|
|
AAV-Mediated Gene Transfer Restores a Normal Muscle Transcriptome in a Canine Model of X-Linked Myotubular Myopathy
J. B. Dupont
,
J. Guo
,
E. Renaud-Gabardos
,
K. Poulard
,
V. Latournerie
et al.
Article dans une revue
hal-02880796
v1
|
|
Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers
Candice Kutchukian
,
Peter Szentesi
,
Bruno Allard
,
Ana Buj-Bello
,
Laszlo Csernoch
et al.
Article dans une revue
hal-04481577
v1
|
|
X-linked myotubular myopathy: A prospective international natural history study
M. Annoussamy
,
C. Lilien
,
T. Gidaro
,
E. Gargaun
,
V. Che
et al.
Article dans une revue
hal-02880782
v1
|
|
X-linked myotubular myopathy
Mélanie Annoussamy
,
Charlotte Lilien
,
Teresa Gidaro
,
Elena Gargaun
,
Virginie Chê
et al.
Article dans une revue
hal-04481589
v1
|
|
Ca2+-induced sarcoplasmic reticulum Ca2+ release in myotubularin-deficient muscle fibers
Candice Kutchukian
,
Peter Szentesi
,
Bruno Allard
,
Ana Buj-Bello
,
Laszlo Csernoch
et al.
Article dans une revue
hal-02325585
v1
|
|
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
,
Arnaud Klein
et al.
Article dans une revue
hal-04481560
v1
|
|
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
,
Arnaud Klein
et al.
Article dans une revue
hal-02177548
v1
|
|
Intravenous Administration of a MTMR2-Encoding AAV Vector Ameliorates the Phenotype of Myotubular Myopathy in Mice
N. Daniele
,
C. Moal
,
L. Julien
,
M. Marinello
,
T. Jamet
et al.
Article dans une revue
hal-02880793
v1
|
|
CONGENITAL MYOPATHIES (CNM)
M. Annoussamy
,
C. Lilien
,
T. Gidaro
,
V. Chê
,
U. Schara
et al.
Article dans une revue
hal-03158303
v1
|
|
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
et al.
Article dans une revue
hal-04481600
v1
|
|
Reversible endogenous downregulation of myostatin pathway in wasting neuromuscular diseases explains challenges of anti-myostatin therapeutic approaches
V. Mariot
,
R. Joubert
,
C. Hourdé
,
L. Féasson
,
M. Hanna
et al.
Article dans une revue
hal-03158871
v1
|
|
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
David Mack
,
Karine Poulard
,
Melissa Goddard
,
Virginie Latournerie
,
Jessica Snyder
et al.
Article dans une revue
hal-02179363
v1
|
|
New myotubular myopathy classification
C. Lilien
,
M. Annoussamy
,
T. Gidaro
,
E. Gargaun
,
V. Chê
et al.
Article dans une revue
hal-03158322
v1
|
|
Long-term effects of systemic gene therapy in a canine model of myotubular myopathy
Matthew Elverman
,
Melissa Goddard
,
David Mack
,
Jessica Snyder
,
Michael Lawlor
et al.
Article dans une revue
hal-02179358
v1
|
|
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches
Virginie Mariot
,
Romain Joubert
,
Christophe Hourdé
,
Léonard Feasson
,
Michael Hanna
et al.
Article dans une revue
hal-02167071
v1
|
|
Long‐term effects of systemic gene therapy in a canine model of myotubular myopathy
Matthew Elverman
,
Melissa Goddard
,
David Mack
,
Jessica Snyder
,
Michael Lawlor
et al.
Article dans une revue
hal-04481605
v1
|
|
High-throughput transcriptome analysis provides new indicators of gene therapy efficacy in XLMTM dogs
J. Dupont
,
J. Guo
,
J. Gray
,
A. Buj-Bello
,
M. Childers
et al.
Article dans une revue
hal-03158351
v1
|
|
Myostatin expression levels in neuromuscular diseases participates in anti-myostatin clinical failure
V. Mariot
,
R. Joubert
,
C. Hourdé
,
L. Féasson
,
M. Hanna
et al.
Article dans une revue
hal-03158311
v1
|
|
Antisense targeting of dynamin 2 by intramuscular delivery of vivo-morpholinos rescues the pathology in a murine model of myotubular myopathy
N. Danièle
,
C. Bogni
,
L. Julien
,
A. Piet
,
A. Vignaud
et al.
Article dans une revue
hal-03158867
v1
|
|
Systemic AAV8-Mediated Gene Therapy Drives Whole-Body Correction of Myotubular Myopathy in Dogs
David Mack
,
Karine Poulard
,
Melissa Goddard
,
Virginie Latournerie
,
Jessica Snyder
et al.
Article dans une revue
hal-04481609
v1
|
|
Longitudinal data of patients with myotubular myopathy enrolled in a European prospective and longitudinal natural history study
M. Annoussamy
,
C. Lilien
,
T. Gidaro
,
E. Gargaun
,
V. Chê
et al.
Article dans une revue
hal-03158315
v1
|
|
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches
Virginie Mariot
,
Romain Joubert
,
Christophe Hourdé
,
Léonard Féasson
,
Michael Hanna
et al.
Article dans une revue
hal-04481602
v1
|
|
PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models
N. Sabha
,
J. R. Volpatti
,
H. Gonorazky
,
A. Reifler
,
A. E. Davidson
et al.
Article dans une revue
hal-02881017
v1
|
|
Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy
R. Mansour
,
S. Severin
,
J. M. Xuereb
,
M. P. Gratacap
,
J. Laporte
et al.
Article dans une revue
hal-02880994
v1
|
|
498. Prolonged Benefit from Systemic rAAV8 in a Canine Model of Myotubular Myopathy
Matthew Elverman
,
David Mack
,
Melissa Goddard
,
Jessica Snyder
,
Robert Grange
et al.
Article dans une revue
hal-03158883
v1
|
|
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
et al.
Article dans une revue
hal-04481620
v1
|
|
Phosphatidylinositol 3-kinase inhibition restores Ca2+ release defects and prolongs survival in myotubularin-deficient mice
C. Kutchukian
,
M. Lo Scrudato
,
Y. Tourneur
,
K. Poulard
,
A. Vignaud
et al.
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-01850367
v1
|
|
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
et al.
Article dans une revue
hal-03158286
v1
|
|
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons: Erratum
Ana Buj-Bello
Article dans une revue
hal-03158886
v1
|
|
X-linked myotubular myopathy in ambulant patients
M. Annoussamy
,
V. Chë
,
C. Lilien
,
T. Gidaro
,
A. Daron
et al.
Article dans une revue
hal-03158878
v1
|
|
AAV-mediated MTMR2 delivery prolongs survival and rescues the pathology in a mouse model of myotubular myopathy
N. Danièle
,
C. Moal
,
L. Julien
,
T. Jamet
,
R. Joubert
et al.
Article dans une revue
hal-03158877
v1
|
|
Phosphatidylinositol 3-kinase inhibition restores Ca 2+ release defects and prolongs survival in myotubularin-deficient mice
Candice Kutchukian
,
Mirella Lo Scrudato
,
Yves Tourneur
,
Karine Poulard
,
Alban Vignaud
et al.
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-04481617
v1
|
|
Expression of myotubularins in blood platelets: Characterization and potential diagnostic of X-linked myotubular myopathy
Rana Mansour
,
Sonia Severin
,
Jean-Marie Xuereb
,
Marie-Pierre Gratacap
,
Jocelyn Laporte
et al.
Article dans une revue
hal-04481651
v1
|
|
PIK3C2B inhibition improves function and prolongs survival in myotubular myopathy animal models
Nesrin Sabha
,
Jonathan Volpatti
,
Hernan Gonorazky
,
Aaron Reifler
,
Ann Davidson
et al.
Article dans une revue
hal-04481622
v1
|
|
Skeletal Muscle Pathology in X-Linked Myotubular Myopathy: Review With Cross-Species Comparisons
Michael Lawlor
,
Alan Beggs
,
Ana Buj-Bello
,
Martin Childers
,
James Dowling
et al.
Article dans une revue
inserm-04481509
v1
|
|
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
et al.
Article dans une revue
hal-01487810
v1
|
|
Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs
Martin K. Childers
,
Alan H. Beggs
,
Ana Buj-Bello
Annals of translational medicine, 2015
Article dans une revue
hal-04482622
v1
|
|
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
,
Karine Poulard
,
Melissa Goddard
,
Jessica Snyder
,
Robert Grange
et al.
Article dans une revue
hal-03159330
v1
|
|
Gene replacement rescues severe muscle pathology and prolongs survival in myotubularin-deficient mice and dogs
M. K. Childers
,
A. H. Beggs
,
A. Buj-Bello
Article dans une revue
hal-02880973
v1
|
|
Spatially Localized Disruptions of Voltage Activated Calcium Release in Mtm1-Deficient Muscle Fibers
Candice Kutchukian
,
Karine Poulard
,
Anna Buj-Bello
,
Vincent Jacquemond
Article dans une revue
hal-03159333
v1
|
|
576. A Novel Gene Editing-Based Strategy for Myotonic Dystrophy Type 1
Mirella Lo Scrudato
,
Samia Martin
,
Geneviève Gourdon
,
Denis Furling
,
Ana Buj-Bello
Article dans une revue
hal-03159325
v1
|
|
Natural history and functional status of patients with myotubular myopathy enrolled in a prospective and longitudinal study
N. R'Guiba
,
M. Annoussamy
,
R. Cardas
,
C. Lilien
,
G. Ollivier
et al.
Article dans une revue
hal-03159323
v1
|
|
Ultrasound assessment of the diaphragm: Preliminary study of a canine model of X-linked myotubular myopathy
A. Sarwal
,
M. S. Cartwright
,
F. O. Walker
,
E. Mitchell
,
A. Buj-Bello
et al.
Article dans une revue
hal-02881170
v1
|
|
Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy
Martin Childers
,
Romain Joubert
,
Karine Poulard
,
Christelle Moal
,
Robert Grange
et al.
Article dans une revue
hal-04481698
v1
|
|
G.P.43
L. Buscara
,
R. Joubert
,
C. Moal
,
K. Poulard
,
Samia Martin
et al.
Article dans une revue
hal-03159341
v1
|
|
Gene Therapy Prolongs Survival and Restores Function in Murine and Canine Models of Myotubular Myopathy
Martin Childers
,
Romain Joubert
,
Karine Poulard
,
Christel Moal
,
Robert Grange
et al.
Article dans une revue
hal-02180848
v1
|
|
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
et al.
Article dans une revue
hal-04481686
v1
|
|
Gait characteristics in a canine model of X-linked myotubular myopathy
Melissa Goddard
,
Emily Burlingame
,
Alan H. Beggs
,
Anna Buj-Bello
,
Martin K. Childers
et al.
Article dans une revue
hal-02180820
v1
|
|
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
et al.
Article dans une revue
hal-03158246
v1
|
|
Phosphoinositide substrates of myotubularin affect voltage-activated Ca(2)(+) release in skeletal muscle
Estela González Rodríguez
,
Romain Lefebvre
,
Dóra Bodnár
,
Claude Legrand
,
Peter Szentesi
et al.
Article dans une revue
hal-02881139
v1
|
|
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
,
Marissa Viola
,
Hui Meng
,
Rachel Edelstein
,
Fujun Liu
et al.
Article dans une revue
hal-04481693
v1
|
|
G.P.39
M. Annoussamy
,
H. Landy
,
D. Ramsdell
,
M. Nelken
,
F. Muntoni
et al.
Article dans une revue
hal-03159338
v1
|
|
Gait characteristics in a canine model of X-linked myotubular myopathy
Melissa Goddard
,
Emily Burlingame
,
Alan Beggs
,
Anna Buj-Bello
,
Martin Childers
et al.
Article dans une revue
hal-04481683
v1
|
|
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
,
M. G. Viola
,
H. Meng
,
R. V. Edelstein
,
Franklin Liu
et al.
Article dans une revue
hal-02881169
v1
|
|
O.6 Restricting MTM1 transgene expression to skeletal muscle in AAV-mediated gene therapy for myotubular myopathy
R. Joubert
,
C. Moal
,
A. Vignaud
,
S. Martín
,
I. Richard
et al.
Article dans une revue
istex
hal-03159348
v1
|
|
Phosphoinositide substrates of myotubularin affect voltage-activated Ca2+ release in skeletal muscle
Estela González Rodríguez
,
Romain Lefebvre
,
Dóra Bodnár
,
Claude Legrand
,
Peter Szentesi
et al.
Article dans une revue
hal-04481702
v1
|
|
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
et al.
Article dans une revue
hal-02881178
v1
|
|
198th ENMC International Workshop: 7th Workshop on Centronuclear (Myotubular) myopathies, 31st May – 2nd June 2013, Naarden, The Netherlands
Heinz Jungbluth
,
Carina Wallgren-Pettersson
,
Jocelyn Laporte
,
Ana Buj-Bello
Article dans une revue
hal-03158200
v1
|
|
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
et al.
Article dans une revue
hal-04481707
v1
|
|
Enzyme replacement therapy rescues weakness and improves muscle pathology in mice with X-linked myotubular myopathy
M. W. Lawlor
,
D. Armstrong
,
M. G. Viola
,
J. J. Widrick
,
H. Meng
et al.
Article dans une revue
hal-02881184
v1
|
|
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
et al.
Article dans une revue
hal-04481705
v1
|
|
P.4.2 MTMR2 ameliorates the phenotype of myotubular myopathy in mice
N. Danièle
,
T. Jamet
,
C. Moal
,
R. Joubert
,
N. Messaddeq
et al.
Article dans une revue
istex
hal-03159360
v1
|
|
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
James Dowling
,
Romain Joubert
,
Sean Low
,
Ashley Durban
,
Nadia Messaddeq
et al.
Article dans une revue
hal-04481738
v1
|
|
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
,
A. N. Dulin-Smith
,
A. N. Durban
,
M. L. Marshall
,
J. T. Marshall
et al.
Article dans une revue
hal-02881147
v1
|
|
Myotubularin-Deficient Myoblasts Display Increased Apoptosis, Delayed Proliferation, and Poor Cell Engraftment
Michael Lawlor
,
Matthew Alexander
,
Marissa Viola
,
Hui Meng
,
Romain Joubert
et al.
Article dans une revue
hal-04481713
v1
|
|
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
et al.
Article dans une revue
hal-04481743
v1
|
|
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
J. Dowling
,
R. Joubert
,
S. Low
,
A. Durban
,
N. Messaddeq
et al.
Article dans une revue
hal-03157875
v1
|
|
Myotubular myopathy and the neuromuscular junction: a novel therapeutic approach from mouse models
J. J. Dowling
,
R. Joubert
,
S. E. Low
,
A. N. Durban
,
N. Messaddeq
et al.
Article dans une revue
hal-02881204
v1
|
|
Myotubularin-deficient myoblasts display increased apoptosis, delayed proliferation, and poor cell engraftment
M. W. Lawlor
,
M. S. Alexander
,
M. G. Viola
,
H. Meng
,
R. Joubert
et al.
Article dans une revue
hal-02881205
v1
|
|
Inhibition of activin receptor type IIB increases strength and lifespan in myotubularin-deficient mice
M. W. Lawlor
,
B. P. Read
,
R. Edelstein
,
N. Yang
,
C. R. Pierson
et al.
Article dans une revue
hal-02881134
v1
|
|
Inhibition of Activin Receptor Type IIB Increases Strength and Lifespan in Myotubularin-Deficient Mice
Michael Lawlor
,
Benjamin Read
,
Rachel Edelstein
,
Nicole Yang
,
Christopher Pierson
et al.
Article dans une revue
hal-04481748
v1
|
|
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers
Alan Beggs
,
Johann Böhm
,
Elizabeth Snead
,
Marek Kozlowski
,
Marie Maurer
et al.
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-04481752
v1
|
|
P1.44 Neuromuscular junction abnormalities and myotubular myopathy
J.J. Dowling
,
A.N. Dulin-Smith
,
K. Poulard
,
L. Fries
,
A. Buj-Bello
et al.
Article dans une revue
istex
hal-03159367
v1
|
|
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
et al.
Article dans une revue
istex
hal-03157933
v1
|
|
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
et al.
Article dans une revue
istex
hal-04481753
v1
|
|
MTM1 mutation associated with X-linked myotubular myopathy in Labrador Retrievers.
Alan H. Beggs
,
Johann Böhm
,
Elizabeth Snead
,
Marek Kozlowski
,
Marie Maurer
et al.
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-00511900
v1
|
|
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
et al.
Article dans une revue
istex
hal-03159372
v1
|
|
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
et al.
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-04481757
v1
|
|
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
et al.
Article dans une revue
hal-03158293
v1
|
|
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
et al.
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-03157453
v1
|
|
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
et al.
Article dans une revue
istex
hal-03159382
v1
|
|
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
et al.
Article dans une revue
hal-04481760
v1
|
|
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
et al.
Article dans une revue
inserm-00311078
v1
|
|
G.P.9.11 Histopathological findings in Vici syndrome
V.M. Mcclelland
,
O. Miller
,
W. Jan
,
L. Amaya
,
A. Buj-Bello
et al.
Article dans une revue
istex
hal-03159385
v1
|
|
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
et al.
Article dans une revue
istex
hal-00189980
v1
|
|
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
et al.
Article dans une revue
istex
hal-04481762
v1
|
|
C.P.1.10 Molecular mechanisms underlying X-linked myotubular myopathy
D. Sanoudou
,
C. Kretz
,
A. Beggs
,
J. Laporte
,
A. Buj-Bello
et al.
Article dans une revue
istex
hal-03159387
v1
|
|
CXorf6 is a causative gene for hypospadias.
Maki Fukami
,
Yuka Wada
,
Kanako Miyabayashi
,
Ichizo Nishino
,
Tomonobu Hasegawa
et al.
Article dans une revue
hal-00187913
v1
|
|
CXorf6 is a causative gene for hypospadias
Maki Fukami
,
Yuka Wada
,
Kanako Miyabayashi
,
Ichizo Nishino
,
Tomonobu Hasegawa
et al.
Article dans une revue
hal-04481769
v1
|
|
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
et al.
Article dans une revue
istex
hal-04481772
v1
|
|
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
et al.
Article dans une revue
istex
hal-00187798
v1
|
|
Myogenic defects in myotonic dystrophy
Jeffrey Amack
,
Mani Mahadevan
,
Ana Buj-Bello
Article dans une revue
hal-03157687
v1
|
|
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
et al.
Article dans une revue
istex
hal-04481790
v1
|
|
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
et al.
Article dans une revue
istex
hal-04481794
v1
|
|
Implication of phosphoinositide phosphatases in genetic diseases: the case of myotubularin
Ana Buj-Bello
,
J.-L. Mandel
,
B. Payrastre
Article dans une revue
istex
hal-04481785
v1
|
|
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
istex
hal-03157959
v1
|
|
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
et al.
Article dans une revue
istex
hal-04133445
v1
|
|
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
et al.
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-04481797
v1
|
|
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
et al.
Article dans une revue
hal-04481805
v1
|
|
Genotype–phenotype correlations in X-linked myotubular myopathy
Meriel Mcentagart
,
Gretchen Parsons
,
Anna Buj-Bello
,
Valérie Biancalana
,
Iain Fenton
et al.
Article dans une revue
istex
hal-03157667
v1
|
|
Genotype–phenotype correlations in X-linked myotubular myopathy
Meriel Mcentagart
,
Gretchen Parsons
,
Anna Buj-Bello
,
Valérie Biancalana
,
Iain Fenton
et al.
Article dans une revue
istex
hal-04481792
v1
|
|
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
et al.
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-03156250
v1
|
|
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-04481929
v1
|
|
Muscle-specific alternative splicing of myotubularin-related 1 gene is impaired in DM1 muscle cells
A. Buj-Bello
Article dans une revue
hal-03157458
v1
|
|
The myotubularin family: from genetic disease to phosphoinositide metabolism
J Laporte
,
Ana Buj-Bello
,
J.-L. Mandel
,
F. Blondeau
Article dans une revue
istex
hal-03157671
v1
|
|
The myotubularin family: from genetic disease to phosphoinositide metabolism
J Laporte
,
François Blondeau
,
Anna Buj-Bello
,
Jean-Louis Mandel
Article dans une revue
istex
hal-04481813
v1
|
|
MTM1 mutations in X-linked myotubular myopathy
Jocelyn Laporte
,
Valérie Biancalana
,
Stephan Tanner
,
Wolfram Kress
,
Vreni Schneider
et al.
Article dans une revue
hal-03156248
v1
|
|
MTM1 mutations in X-linked myotubular myopathy
Jocelyn Laporte
,
Stephan Tanner
,
Wolfram Kress
,
Vreni Schneider
,
Carina Wallgren-Pettersson
et al.
Article dans une revue
hal-04481821
v1
|
|
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
istex
hal-03157879
v1
|
|
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-03157883
v1
|
|
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
istex
hal-04481830
v1
|
|
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-04481826
v1
|
|
Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human
J. Laporte
,
F. Blondeau
,
A. Buj-Bello
,
D. Tentler
,
C. Kretz
et al.
Article dans une revue
hal-03157511
v1
|
|
GFRα-4, a New GDNF Family Receptor
Jane Thompson
,
Epaminondas Doxakis
,
Luzia G.P. Piñón
,
Philip Strachan
,
Anna Buj-Bello
et al.
Article dans une revue
istex
hal-04481911
v1
|
|
GFRα-4, a New GDNF Family Receptor
Jane Thompson
,
Epaminondas Doxakis
,
Luzia G.P. Piñón
,
Philip Strachan
,
Anna Buj-Bello
et al.
Article dans une revue
istex
hal-03157674
v1
|
|
Characterization of the Myotubularin Dual Specificity Phosphatase Gene Family from Yeast to Human
J. Laporte
,
F. Blondeau
,
Ana Buj-Bello
,
D. Tentler
,
C. Kretz
et al.
Article dans une revue
hal-04481835
v1
|
|
Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase
Anna Buj-Bello
,
Jimi Adu
,
Luzia Piñón
,
Antony Horton
,
Jane Thompson
et al.
Article dans une revue
hal-03156247
v1
|
|
Neurturin responsiveness requires a GPI-linked receptor and the Ret receptor tyrosine kinase
Anna Buj-Bello
,
Jimi Adu
,
Luzia Piñón
,
Antony Horton
,
Jane Thompson
et al.
Article dans une revue
hal-04481913
v1
|
|
Characterization of a multicomponent receptor for GDNF
James Treanor
,
Laurie Goodman
,
Frederic de Sauvage
,
Donna Stone
,
Kris Poulsen
et al.
Article dans une revue
istex
hal-04481918
v1
|
|
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-04482596
v1
|
|
Paracrine Interactions of BDNF Involving NGF-Dependent Embryonic Sensory Neurons
Michelle Robinson
,
Anna Buj-Bello
,
Alun Davies
Article dans une revue
istex
hal-04481920
v1
|
|
Characterization of a multicomponent receptor for GDNF
James Treanor
,
Laurie Goodman
,
Frederic de Sauvage
,
Donna Stone
,
Kris Poulsen
et al.
Article dans une revue
istex
hal-03156243
v1
|
|
Paracrine Interactions of BDNF Involving NGF-Dependent Embryonic Sensory Neurons
Michelle Robinson
,
Anna Buj-Bello
,
Alun Davies
Article dans une revue
istex
hal-03157694
v1
|
|
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-03156246
v1
|
|
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-04481921
v1
|
|
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-04482600
v1
|
|
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-04481924
v1
|