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Desmin Modulates Muscle Cell Adhesion and Migration
Coralie Hakibilen
,
Florence Delort
,
Marie-Thérèse Daher
,
Pierre Joanne
,
Eva Cabet
et al.
Journal articles
hal-03669613v1
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246th ENMC International Workshop: Protein aggregate myopathies 24-26 May 2019, Hoofddorp, The Netherlands
Montse Olive
,
Lilli Winter
,
Dieter O. Fuerst
,
Rolf Schroeder
,
Anthony Behin
et al.
Journal articles
hal-03677382v1
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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization.
J. A. Bevilacqua
,
Nicole Monnier
,
Marcus Bitoun
,
Bruno Eymard
,
Ana Ferreiro
et al.
Journal articles
inserm-00639292v1
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ASC‐1 Is a Cell Cycle Regulator Associated with Severe and Mild Forms of Myopathy
Rocío Villar‐quiles
,
Fabio Catervi
,
Eva Cabet
,
Raul Juntas-Morales
,
Casie A Genetti
et al.
Journal articles
hal-02957769v1
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Selenoprotein Gene Nomenclature
Vadim N. Gladyshev
,
Elias S. Arnér
,
Marla J. Berry
,
Regina Brigelius-Flohé
,
Elspeth A. Bruford
et al.
Journal articles
pasteur-01882353v1
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Muscular, Ocular and Brain Involvement Associated with a De Novo 11q13.2q14.1 Duplication: Contribution to the Differential Diagnosis of Muscle-Eye-Brain Congenital Muscular Dystrophy.
Rocio N Villar-Quiles
,
Marta Gomez-Garcia de La Banda
,
Annie Barois
,
Celine Bouchet-Seraphin
,
Norma B Romero
et al.
Journal articles
hal-03300569v1
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Consensus Statement on Standard of Care for Congenital Muscular Dystrophies
Ching Wang
,
Carsten G Bonnemann
,
Anne Rutkowski
,
Thomas Sejersen
,
Jonathan Bellini
et al.
Journal articles
hal-01681828v1
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Selenoproteins and Protection against Oxidative Stress: Selenoprotein N as a Novel Player at the Crossroads of Redox Signaling and Calcium Homeostasis
Sandrine Arbogast
,
Ana Ferreiro
Antioxidants and Redox Signaling, 2010
Journal articles
hal-02613577v1
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Defective endoplasmic reticulum-mitochondria contacts and bioenergetics in SEPN1-related myopathy
Anne Filipe
,
Alexander Chernorudskiy
,
Sandrine Arbogast
,
Ersilia Varone
,
Rocío-Nur Villar-Quiles
et al.
Journal articles
hal-03049208v1
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Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.
Dirk Fischer
,
Muriel Herasse
,
Ana Ferreiro
,
Hector Manuel Barragán-Campos
,
Jacques Chiras
et al.
Journal articles
inserm-00383899v1
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240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands
Jennifer Morgan
,
Gillian Butler-Browne
,
Francesco Muntoni
,
Ketan Patel
,
Helge Amthor
et al.
Journal articles
hal-03201551v1
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Calcium and Redox Liaison: A Key Role of Selenoprotein N in Skeletal Muscle
Ester Zito
,
Ana Ferreiro
Journal articles
hal-03248582v1
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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.
Journal articles
hal-03244986v1
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Making sense of missense variants in TTN-related congenital myopathies
Martin Rees
,
Roksana Nikoopour
,
Atsushi Fukuzawa
,
Ay Lin Kho
,
Miguel A Fernandez-Garcia
et al.
Journal articles
hal-03156853v2
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SELENON (SEPN1) protects skeletal muscle from saturated fatty acid-induced ER stress and insulin resistance
Ersilia Varone
,
Diego Pozzer
,
Simona Di Modica
,
Alexander Chernorudskiy
,
Leonardo Nogara
et al.
Journal articles
hal-02165757v1
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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.
Journal articles
hal-01295646v1
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Diagnostic approach to the congenital muscular dystrophies
Carsten Bönnemann
,
Ching H Wang
,
Susana Quijano-Roy
,
Nicolas Deconinck
,
Enrico Bertini
et al.
Journal articles
hal-01681798v1
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Genotype-phenotype correlations in recessive titinopathies
Marco Savarese
,
Anna Vihola
,
Emily C. Oates
,
Rita Barresi
,
Chiara Fiorillo
et al.
Journal articles
hal-03300419v1
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What do we know about selenium contributions to muscle physiology?
Alain Lescure
,
Mickaël Briens
,
Ana Ferreiro
Book sections
hal-03599295v1
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Oxidative stress and successful antioxidant treatment in models of RYR1-related myopathy.
James J. Dowling
,
Sandrine Arbogast
,
Junguk Hur
,
Darcee D. Nelson
,
Anna Mc Evoy
et al.
Journal articles
inserm-00763107v1
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A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course
Valérie Biancalana
,
John Rendu
,
Annabelle Chaussenot
,
Helen Mecili
,
Eric Bieth
et al.
Journal articles
hal-03613310v1
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Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains
Aurélien Perrin
,
Charles van Goethem
,
Corinne Thèze
,
Jacques Puechberty
,
Thomas Guignard
et al.
Journal articles
hal-03672757v1
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Desmin Modulates Muscle Cell Adhesion and Migration
Coralie Hakibilen
,
Florence Delort
,
Marie-Thérèse Daher
,
Pierre Joanne
,
Eva Cabet
et al.
Journal articles
hal-03876281v1
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Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies
Karim Wahbi
,
Rabah Ben Yaou
,
Estelle Gandjbakhch
,
Frédéric Anselme
,
Thomas Gossios
et al.
Journal articles
hal-02237297v1
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Phospholipids: Identification and Implication in Muscle Pathophysiology
Rezlène Bargui
,
Audrey Solgadi
,
Bastien Prost
,
Mélanie Chester
,
Ana Ferreiro
et al.
Journal articles
hal-03351534v1
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Inherited Defects of the ASC-1 Complex in Congenital Neuromuscular Diseases
Justine Meunier
,
Rocio-Nur Villar-Quiles
,
Isabelle Duband-Goulet
,
Ana Ferreiro
Journal articles
hal-03359585v1
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Analyses fonctionnelles et études de corrélation phénotype-génotype chez des patients suspects de titinopathie
Aurélien Perrin
,
Charles Van Goethem
,
Corinne Métay
,
Raul Juntas Morales
,
Françoise Chapon
et al.
19èmes Journées de la Société Française de Myologie, Nov 2022, Toulouse, France
Conference poster
hal-04004837v1
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Physical and Functional Cross Talk Between Endo-Sarcoplasmic Reticulum and Mitochondria in Skeletal Muscle
Simona Boncompagni
,
Diego Pozzer
,
Carlo Viscomi
,
Ana Ferreiro
,
Ester Zito
et al.
Journal articles
hal-03201558v1
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219th ENMC International Workshop Titinopathies International database of titin mutations and phenotypes, Heemskerk, The Netherlands, 29 April–1 May 2016
Peter Hackman
,
Bjarne Udd
,
Carsten Bönnemann
,
Ana Ferreiro
Journal articles
hal-02333059v1
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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.
Journal articles
hal-01716017v1
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