ECM characterization in novel cellular models for COL6-RD
Kourtzas D
,
Rocio Nur Villar Quiles
,
Gartioux C
,
Allamand V
Collagen VI International Research Summit , Fundacion Noelia, Nov 2023, San Sebastian, Spain
Communication dans un congrès
hal-04475051v1
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Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors.
Perrine Castets
,
Svetlana Maugenre
,
Corine Gartioux
,
Mathieu Rederstorff
,
Alain Krol
,
et al.
Article dans une revue
inserm-00610658v1
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Abnormal splicing switch of DMD's penultimate exon compromises muscle fibre maintenance in myotonic dystrophy
Frédérique Rau
,
Jeanne Lainé
,
Laetitita Ramanoudjame
,
Arnaud Ferry
,
Ludovic Arandel
,
et al.
Article dans une revue
hal-01162385v1
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Increased Muscle Stress-Sensitivity Induced by Selenoprotein N Inactivation in Mouse: A Mammalian Model for SEPN1-Related Myopathy
Mathieu Rederstorff
,
Perrine Castets
,
Sandrine Arbogast
,
Jeanne Lainé
,
Stéphane Vassilopoulos
,
et al.
Article dans une revue
hal-01716017v1
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Whole exome sequencing identifies compound heterozygous missense variants in the LOXL4 gene: a novel candidate cause of contractural myopathy
E. Cohen
,
I. Nelson
,
C. Gartioux
,
M. Beuvin
,
Z. Mezdari
,
et al.
Communication dans un congrès
hal-03867603v1
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Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy
A. Solares Perez
,
C. Gartioux
,
M. Beuvin
,
M. Viou Thao
,
J. Laine
,
et al.
Communication dans un congrès
hal-03867637v1
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A recurrent COL6A1 pseudoexon insertion causes muscular dystrophy and is effectively targeted by splice-correction therapies
Véronique Bolduc
,
A. Reghan Reghan Foley
,
Herimela Solomon-Degefa
,
Apurva Sarathy
,
Sandra Donkervoort
,
et al.
Article dans une revue
hal-03285227v1
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The EUROGEM map of human chromosome 12.
A Bosch
,
I Banchs
,
A Puig
,
Gilles Vergnaud
,
V Allamand
,
et al.
European Journal of Human Genetics , 1993, 2 (3), pp.226-7
Article dans une revue
hal-01160670v1
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Assessment of muscle regeneration in the R6/2 mouse model of huntington’s disease
Sanzana Hoque
,
Rana Soylu Kucharz
,
Valérie Allamand
,
Marie Sjögren
,
Kinga Gawlik
,
et al.
Communication dans un congrès
hal-03867574v1
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Solving patients with rare diseases through programmatic reanalysis of genome-phenome data
Anna Katharina Sommer
,
Iris Te Paske
,
Farid Yavari Dizjikan
,
Chiara Marini Bettolo
,
Ivo Glynne Gut
,
et al.
Article dans une revue
hal-03352530v2
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Premature stop codons involved in muscular dystrophies show a broad spectrum of readthrough efficiencies in response to gentamicin treatment.
L. Bidou
,
I. Hatin
,
N. Pérez
,
V. Allamand
,
J.J. Panthier
,
et al.
Gene Therapy , 2004, 11, pp.619-627
Article dans une revue
hal-02676851v1
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Antioxidants Reduce Muscular Dystrophy in the dy2J/dy2J Mouse Model of Laminin α2 Chain-Deficient Muscular Dystrophy
Vahid M. Harandi
,
Bernardo Moreira Soares Oliveira
,
Valérie Allamand
,
Ariana Friberg
,
Cibely C Fontes-Oliveira
,
et al.
Article dans une revue
hal-02552023v1
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LAMA2-Related Muscular Dystrophy: The Importance of Accurate Phenotyping and Brain Imaging in the Diagnosis of LGMD
Tanya Stojkovic
,
Marion Masingue
,
Corinne Métay
,
Norma Romero
,
Bruno Eymard
,
et al.
Article dans une revue
hal-03860537v1
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Spontaneous muscular dystrophy caused by a retrotransposal insertion in the mouse laminin α2 chain gene
Sylvie Besse
,
Valérie Allamand
,
Jean-Thomas Vilquin
,
Zhenlin Li
,
Christophe Poirier
,
et al.
Article dans une revue
hal-03824380v1
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L’intérêt d’inclure l’analyse SMA dans les panels NGS de maladies neuromusculaires
Valérie Allamand
Article dans une revue
hal-03838506v1
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HANAC Col4a1 Mutation in Mice Leads to Skeletal Muscle Alterations due to a Primary Vascular Defect
Simon Guiraud
,
Tiffany Migeon
,
Arnaud Ferry
,
Zhiyong Chen
,
Souhila Ouchelouche
,
et al.
Article dans une revue
hal-03831011v1
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O.3 Satellite cell loss is the pathomechanism leading to muscle atrophy in selenoprotein N deficiency
P. Castets
,
A.T. Bertrand
,
M. Beuvin
,
A. Ferry
,
F. Le Grand
,
et al.
Article dans une revue
istex
hal-02935581v1
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Selenoprotein function and muscle disease
Alain Lescure
,
Mathieu Rederstorff
,
Alain Krol
,
Pascale Guicheney
,
Valérie Allamand
Article dans une revue
istex
hal-03844559v1
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Modelling LAMA2-CMD to explore physiopathology and therapeutic options
Leslie Caron
,
Allamand V
EJPRD Workshop: LAMA2-Muscular Dystrophy: Paving the road to therapy , Mar 2023, Barcelone, Spain. pp.16-22,
⟨10.1016/j.nmd.2024.01.001⟩
Communication dans un congrès
hal-04475069v1
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Collagen VI genes in zebrafish skeletal muscle: Implications for collagen VI-myopathies
L. Ramanoudjame
,
C. Rocancourt
,
J. Laine
,
L. Lyphout
,
C. Gartioux
,
et al.
17. International Congress of the World Muscle Society , Oct 2012, Perth, Western Australia, Australia. Elsevier, Neuromuscular Disorders, 22, 908 p., 2012, Neuromuscular disorders. Programme and abstracts.
⟨10.1016/j.nmd.2012.06.089⟩
Poster de conférence
hal-02749637v1
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212th ENMC International Workshop: Animal models of congenital muscular dystrophies, May 29th-31st, 2015 in Naarden, The Netherlands,
M. Saunier
,
C.G. Bönnemann
,
M. Durbeej
,
V. Allamand
Article dans une revue
hal-01293003v1
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Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon.
M. Rederstorff
,
V. Allamand
,
P. Guicheney
,
C. Gartioux
,
Patrick Richard
,
et al.
Article dans une revue
hal-00292612v1
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The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease
Laurianne Davignon
,
Claire Chauveau
,
Cédric Julien
,
Corinne Dill
,
Isabelle Duband-Goulet
,
et al.
Article dans une revue
hal-01295646v1
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Clinical and Molecular Spectrum Associated with COL6A3 c.7447A>G p.(Lys2483Glu) Variant: Elucidating its Role in Collagen VI-related Myopathies
Rocío Villar-Quiles
,
Sandra Donkevoort
,
Alix de Becdelievre
,
Corine Gartioux
,
Valérie Jobic
,
et al.
Article dans une revue
hal-03244986v1
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Clinical and molecular spectrum associated with COL6A3 c.7447A>G variant: elucidating its role in Collagen VI-related myopathies
R. Villar Quiles
,
S. Donkevoort
,
A. de Becdelievre
,
V. Allamand
,
V. Jobic
,
et al.
25th International Congress of the World-Muscle-Society (WMS) , Sep 2020, ELECTR NETWORK, France. pp.S105-S106,
⟨10.1016/j.nmd.2020.08.202⟩
Communication dans un congrès
hal-03867614v1
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Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon
M. Rederstorff
,
V. Allamand
,
P. Guicheney
,
C. Gartioux
,
P. Richard
,
et al.
Article dans une revue
hal-01716066v1
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Génétique : Une mutation du gène TNPO3 impliquée dans la LGMD D2 confère une protection à l’infection par le VIH-1
Valérie Allamand
Article dans une revue
hal-03838210v1
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Elevated Expression of Moesin in Muscular Dystrophies
Mark Pines
,
Oshrat Levi
,
Olga Genin
,
Adi Lavy
,
Corrado Angelini
,
et al.
Article dans une revue
hal-03838202v1
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Muscle Membrane Serendipity conference : Past, Present, and Future Conference
Valérie Allamand
Article dans une revue
hal-03838486v1
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C.P.2.11 Expression of selenoprotein N in mice during development and in muscle regeneration
P. Castets
,
S. Maugenre
,
Mathieu Rederstorff
,
A. Lescure
,
A. Krol
,
et al.
Article dans une revue
istex
hal-02935590v1
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