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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.
Journal articles
hal-03831011v1
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Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
Willem de Ridder
,
Isabelle Nelson
,
Bob Asselbergh
,
Boel de Paepe
,
Maud Beuvin
,
et al.
Journal articles
hal-03855787v1
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Insights in the pathophysiological mechanisms of striated muscle Laminopathies
Gisèle Bonne
Ottawa NMD 2023 Conference, Sep 2023, Ottawa, Canada
Conference papers
hal-04189748v1
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Concept de gènes actionnables et application dans le domaine neuromusculaire.
Gisèle Bonne
,
Martin Krahn
25èmes Journées Neuromusculaires de Marseille, Sep 2023, Marseille, France
Conference papers
hal-04189737v1
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Gene therapy for striated muscle laminopathy (in vivo study)
Mariko Okubo
,
Maud Beuvin
,
Astrid Brull
,
Nathalie Mougenot
,
Valérie Paradis
,
et al.
Conference papers
hal-04189734v1
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Steroid treatment may change natural history in congenital laminopathies
Rocio Garcia-Uzquiano
,
Marta Gomez-García de La Banda
,
Laure Le Goff
,
Veronique Manel
,
Ivana Dabaj
,
et al.
Conference papers
hal-04189730v1
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Modeling of LMNA p.H222P mutation- related cardiomyopathy using human induced pluripotent stem cells
Magali Seguret
,
C. Jouve
,
Z R. Al Sayed
,
C. Pereira
,
V. Ragot
,
et al.
Conference papers
hal-04189728v1
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Investigating lineage-specifi c phenotypes of laminopathies using induced pluripotent stem cells
Noreen Khokhar
,
Cathleen Hagemann
,
Luca Pinton
,
Daniel Moore
,
Jean-Marie Cuisset
,
et al.
Conference papers
hal-04189725v1
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DNA damage repair in LMNA-related congenital muscular dystrophy
Marine Leconte
,
Anne Bertrand
,
Zoheir Guesmia
,
Gisèle Bonne
,
Gisèle Bonne
Conference papers
hal-04189722v1
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Validation of Myo-converted fi broblasts as a relevant model to study chromatin organization defects in striated muscle laminopathies
Louise Benarroch
,
Julia Madsen-Østerbye
,
Mohamed Abdelhalim
,
Kamel Mamchaoui
,
Jessica Ohana
,
et al.
Conference papers
hal-04189720v1
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Using patient iPSC-derived skeletal muscle models for development of a CRISPR-based exon removal therapeutic strategy
Daniel Moore
,
Heather Steele-Stallard
,
Luca Pinton
,
Valentina Lionello
,
Salma Jalal
,
et al.
Conference papers
hal-04189588v1
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How to solve rare diseases: systematic pan-European data sharing and collaborative analysis: the Solve-RD project
Gisèle Bonne
15th Congress of the European Paedriatric Neurology Society, European Paedriatric Neurology Society, Jun 2023, Prague, Czech Republic
Conference papers
hal-04189585v1
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Insights in the pathophysiological mechanisms of striated muscle Laminopathies
Gisèle Bonne
European Meeting on Intermediate Filaments, Elly Hol, Jun 2023, Noorwijkerhout, Netherlands
Conference papers
hal-04189581v1
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Le Treatabolome : une base de donnée des traitements existant pour les maladies rares à l’échelle du gène/variant
Gisèle Bonne
Webinaire de la Filière en Santé Filnemus, May 2023, Paris, France
Conference papers
hal-04189577v1
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Identification of potential genetic modifi ers underlying phenotypic variability in a French family with striated muscle laminopathies
Louise Benarroch
,
Anne T. Bertrand
,
Maud Beuvin
,
Isabelle Nelson
,
Naïra Naouar
,
et al.
Conference papers
hal-04189567v1
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Quantification of skeletal muscle strength in laminopathies
Valérie Decostre
,
Cathy Chikhaoui
,
Corinne Vigouroux
,
Susana Quijano-Roy
,
Karim Wahbi
,
et al.
Conference papers
hal-04189561v1
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Recent insights in the pathophysiological mechanisms of striated muscle laminopathies
Rabah Ben Yaou
,
Louise Benarroch
,
Marine Leconte
,
Maud Beuvin
,
Isabelle Nelson
,
et al.
Conference papers
hal-04189555v1
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The Treatabolome flags treatable genes and variants: an emerging concept
Gisèle Bonne
NC-IUPHAR Symposium April 2023, Servier, Apr 2023, Paris, France
Conference papers
hal-04189545v1
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Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts
Louise Benarroch
,
Julia Madsen-Østerbye
,
Mohamed Abdelhalim
,
Kamel Mamchaoui
,
Jessica Ohana
,
et al.
Journal articles
hal-04187751v1
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Challenges in gene therapy for striated muscle laminopathy
Anne T Bertrand
,
Mariko Okubo
,
Astrid Brull
,
Maud Beuvin
,
Nathalie Mougenot
,
et al.
Conference papers
hal-04170075v1
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miRNA-processing pathway is impaired in skeletal muscle laminopathies
Anne T Bertrand
Myology 2022, Sep 2022, Nice, France
Conference poster
hal-04170057v1
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Novel dominant distal titinopathy phenotype associated with copy number variation
Aurélien Perrin
,
Raul Juntas Morales
,
Françoise Chapon
,
Corinne Thèze
,
Delphine Lacourt
,
et al.
Journal articles
hal-04008067v1
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A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder
Malika Foy
,
Philippe de Mazancourt
,
Corinne Métay
,
Robert Carlier
,
Valérie Allamand
,
et al.
Journal articles
hal-04074072v1
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A novel COL1A1 variant in a family with clinical features of hypermobile Ehlers‐Danlos syndrome that proved to be a COL1 ‐related overlap disorder
Malika Foy
,
Philippe de Mazancourt
,
Corinne Métay
,
Robert Carlier
,
Valérie Allamand
,
et al.
Journal articles
hal-04008076v1
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253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, The Netherlands
Lorenzo Maggi
,
Susana Quijano-Roy
,
Carsten Bönnemann
,
Gisèle Bonne
Journal articles
hal-04086238v1
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Solve-NMD in Paris: Project results
Isabelle Nelson
,
German Demidov
,
Enzo Cohen
,
Aurélien Perrin
,
Mireille Cossée
,
et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers
hal-04086236v1
|
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SNV-InDel working group: Results and lessons learned from the analysis of 22,035 exomes and genomes from 6 European reference networks
Leslie Matalonga
,
Ida Paramonov
,
Wouter Steyaert
,
Heba Morsy
,
Daniel Danis
,
et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers
hal-04086234v1
|
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Elucidating the molecular biology of Inclusion body Myositis through multi-omics analysis
Mridul Johari
,
Daphne Wijnbergen
,
Alaa Khan
,
Pedro Machado
,
Henry Houlden
,
et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference poster
hal-04086230v1
|
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Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features
Jonathan De Winter
,
Liedewei van De Vondel
,
Gisèle Bonne
,
Tanya Stojkovic
,
Sahar Elouej
,
et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference poster
hal-04086227v1
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Titin copy number variations associated with dominant inherited phenotypes
Aurélien Perrin
,
Corinne Métay
,
Marco Savarese
,
Rabah Ben Yaou
,
German Demidov
,
et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference poster
hal-04086226v1
|
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