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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.
American Journal of Pathology, 2017, 187 (3), pp.505-516. ⟨10.1016/j.ajpath.2016.10.020⟩
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.
Neurology Genetics, 2019, 5 (2), pp.e321. ⟨10.1212/NXG.0000000000000321⟩
Journal articles hal-03855787v1

Insights in the pathophysiological mechanisms of striated muscle Laminopathies

Gisèle Bonne
Ottawa NMD 2023 Conference, Sep 2023, Ottawa, Canada
Conference papers hal-04189748v1

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

Gene therapy for striated muscle laminopathy (in vivo study)

Mariko Okubo , Maud Beuvin , Astrid Brull , Nathalie Mougenot , Valérie Paradis , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189734v1

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.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189730v1

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.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189728v1

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.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189725v1

DNA damage repair in LMNA-related congenital muscular dystrophy

Marine Leconte , Anne Bertrand , Zoheir Guesmia , Gisèle Bonne , Gisèle Bonne
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189722v1

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.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189720v1

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.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189588v1

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

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

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

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.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189567v1

Quantification of skeletal muscle strength in laminopathies

Valérie Decostre , Cathy Chikhaoui , Corinne Vigouroux , Susana Quijano-Roy , Karim Wahbi , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189561v1

Recent insights in the pathophysiological mechanisms of striated muscle laminopathies

Rabah Ben Yaou , Louise Benarroch , Marine Leconte , Maud Beuvin , Isabelle Nelson , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189555v1

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

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.
Cells, 2023, 12 (15), pp.1995. ⟨10.3390/cells12151995⟩
Journal articles hal-04187751v1

Challenges in gene therapy for striated muscle laminopathy

Anne T Bertrand , Mariko Okubo , Astrid Brull , Maud Beuvin , Nathalie Mougenot , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04170075v1

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.
Annals of Clinical and Translational Neurology, 2021, 8 (9), pp.1906-1912. ⟨10.1002/acn3.51434⟩
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.
Clinical Case Reports, 2021, 9 (9), ⟨10.1002/ccr3.4128⟩
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.
Clinical Case Reports, 2021, 9 (9), ⟨10.1002/ccr3.4128⟩
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
Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩
Journal articles hal-04086238v1

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

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

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

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

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