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authFullName_s : Ana Ferreiro

Desmin Modulates Muscle Cell Adhesion and Migration

Coralie Hakibilen , Florence Delort , Marie-Thérèse Daher , Pierre Joanne , Eva Cabet et al.
Frontiers in Cell and Developmental Biology, 2022, 10, ⟨10.3389/fcell.2022.783724⟩
Journal articles hal-03669613v1

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.
Neuromuscular Disorders, 2021, 31 (2), pp.158-166. ⟨10.1016/j.nmd.2020.11.003⟩
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.
Neuropathology and Applied Neurobiology, 2011, 37 (3), pp.271-84. ⟨10.1111/j.1365-2990.2010.01149.x⟩
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.
Annals of Neurology, 2020, 87 (2), pp.217-232. ⟨10.1002/ana.25660⟩
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 of Biological Chemistry, 2016, 291 (46), pp.24036 - 24040. ⟨10.1074/jbc.M116.756155⟩
Journal articles pasteur-01882353v1

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 of Neuromuscular Diseases, 2020, 7 (1), pp.69-76. ⟨10.3233/JND-190413⟩
Journal articles hal-03300569v1

Consensus Statement on Standard of Care for Congenital Muscular Dystrophies

Ching Wang , Carsten G Bonnemann , Anne Rutkowski , Thomas Sejersen , Jonathan Bellini et al.
Journal of Child Neurology, 2010, 25 (12), pp.1559 - 1581. ⟨10.1177/0883073810381924⟩
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.
Cell Death and Differentiation, In press, ⟨10.1038/s41418-020-0587-z⟩
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.
Neurology, 2006, 67 (12), pp.2217-20. ⟨10.1212/01.wnl.0000249151.45200.71⟩
Journal articles inserm-00383899v1

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.
Neuromuscular Disorders, 2019, 29 (9), pp.704-715. ⟨10.1016/j.nmd.2019.07.003⟩
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
Cells, 2021, 10 (5), pp.1116. ⟨10.3390/cells10051116⟩
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 of Neuromuscular Diseases, 2021, 8 (4), pp.633-645. ⟨10.3233/JND-200577⟩
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.
Acta Neuropathologica, 2021, 141 (3), pp.431-453. ⟨10.1007/s00401-020-02257-0⟩
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.
Redox Biology, 2019, 24, pp.101176. ⟨10.1016/j.redox.2019.101176⟩
Journal articles hal-02165757v1

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.
Human Molecular Genetics, 2016, 25 (8), pp.1559--1573. ⟨10.1093/hmg/ddw033⟩
Journal articles hal-01295646v1

Diagnostic approach to the congenital muscular dystrophies

Carsten Bönnemann , Ching H Wang , Susana Quijano-Roy , Nicolas Deconinck , Enrico Bertini et al.
Neuromuscular Disorders, 2014, 24 (4), pp.289 - 311. ⟨10.1016/j.nmd.2013.12.011⟩
Journal articles hal-01681798v1

Genotype-phenotype correlations in recessive titinopathies

Marco Savarese , Anna Vihola , Emily C. Oates , Rita Barresi , Chiara Fiorillo et al.
Genetics in Medicine, 2020, 22 (12), pp.2029-2040. ⟨10.1038/s41436-020-0914-2⟩
Journal articles hal-03300419v1
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What do we know about selenium contributions to muscle physiology?

Alain Lescure , Mickaël Briens , Ana Ferreiro
Selenium Its Molecular Biology and Role in Human Health, Springer International Publishing, pp.475-486, 2016, ⟨10.1007/978-3-319-41283-2_40⟩
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.
Brain - A Journal of Neurology , 2012, 135 (Pt 4), pp.1115-27. ⟨10.1093/brain/aws036⟩
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.
Acta Neuropathologica Communications, 2021, 9 (1), pp.155. ⟨10.1186/s40478-021-01254-y⟩
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 of Molecular Diagnostics, In press, ⟨10.1016/j.jmoldx.2022.04.006⟩
Journal articles hal-03672757v1

Desmin Modulates Muscle Cell Adhesion and Migration

Coralie Hakibilen , Florence Delort , Marie-Thérèse Daher , Pierre Joanne , Eva Cabet et al.
Frontiers in Cell and Developmental Biology, 2022, 10, ⟨10.3389/fcell.2022.783724⟩
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.
Circulation, 2019, 140 (4), pp.293-302. ⟨10.1161/CIRCULATIONAHA.118.039410⟩
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.
International Journal of Molecular Sciences, 2021, 22 (15), pp.8176. ⟨10.3390/ijms22158176⟩
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
International Journal of Molecular Sciences, 2021, 22 (11), pp.6039. ⟨10.3390/ijms22116039⟩
Journal articles hal-03359585v1

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

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.
Antioxidants and Redox Signaling, 2019, 32 (12), pp.873-883. ⟨10.1089/ars.2019.7934⟩
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
Neuromuscular Disorders, 2017, 27 (4), pp.396-407. ⟨10.1016/j.nmd.2017.01.009⟩
Journal articles hal-02333059v1

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.
PLoS ONE, 2011, 6 (8), ⟨10.1371/journal.pone.0023094⟩
Journal articles hal-01716017v1