Gisele Bonne - INSERM, Sorbonne Univ

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Bio

My research interest focuses on skeletal & cardiac striated muscles in normal & pathologic conditions. I conducted my research of the genetics & pathophysiology of EDMD and identified the first LMNA mutation. LMNA mutations have been since linked to wide spectrum of disorders, the Laminopathies. My research has evolved towards genetics & physiopathology of neuromuscular disorders. We created knock-in Lmna mice that mimics human disease features & are unique to test therapeutic strategies.

Research Interests

Papers共 514 篇Author StatisticsCo-AuthorSimilar Experts

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Heterozygous Loss-of-function Variants in SPTAN1 Cause an Early Childhood Onset Distal Myopathy

Jonathan De Winter,Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli,Arnaud Isapof,Enzo Cohen,Tanya Stojkovic,Peter Hackman,Mridul Johari,Johanna Palmio,Megan A Waldrop,Alayne P Meyer,Stefan Nicolau,Kevin M Flanigan,Ana Töpf,Jordi Diaz-Manera,Volker Straub,Cheryl Longman, Catherine A McWilliam,Rotem Orbach,Sumit Verma, Regina Laine,Sandra Donkervoort,Carsten G Bonnemann,Adriana Rebelo,Stephan Züchner,Tiffany Grider,Michael E Shy,Isabelle Maystadt,Florence Demurger,Anita Cairns, Sarah Beecroft,Chiara Folland, Willem De Ridder,Gina Ravenscroft,Gisèle Bonne,Bjarne Udd,Jonathan Baets

Genetics in medicine official journal of the American College of Medical Genetics（2025）

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Deciphering DST-associated Disorders: Biallelic Variants Affecting DST-b Cause a Congenital Myopathy

Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot, Melanie T Achleitner, Susann Badmann, Melanie Brugger,Theresa Brunet,Gisèle Bonne, Marta Codina, Laura Ebner, Peyman Eshraghi, Katharina Eyring, Ahmad Shah Farhat,René G Feichtinger,Elisabeth Graf, Anna Marcé-Grau,Andreas Hahn,Henry Houlden,Ehsan Ghayoor Karimiani, Véronique Manel,Katharina Mayerhanser,Juliette Nectoux,Isabelle Nelson,Rahul Phadke,Holger Prokisch, Saeid Sadeghian, Alice Saparov, Anne Schänzer, Ulrike Schara-Schmidt,Julia Schmidt, Rahel Schuler,Caroline Sewry,Gholamreza Shariati, Silke Slanz,Dmitrii Smirnov, Rivka Sukenik-Halevy,Homa Tajsharghi,Mehran Beiraghi Toosi, Laura Trujillano,Joachim Weis,Louise C Wilson, Rabah Ben Yaou,Mina Zamani,Michael Zech, Jana Zschüntzsch,Uwe Kornak,David Goméz-Andrés,Reza Maroofian,Juliane Winkelmann,Andreas Roos,Felix Distelmaier,Johannes A Mayr,Matias Wagner

Brain a journal of neurology (2025)

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Titin Copy Number Variations Associated with Dominant Inherited Phenotypes

JOURNAL OF MEDICAL GENETICSno. 4 (2024): 369-377

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P.145 Identification of Potential Genetic Modifiers Underlying Phenotypic Variability in a French Family with Striated Muscle Laminopathies

Louise Benarroch,Anne T. Bertrand,Beuvin Maud,Isabelle Nelson,Naira Naouar,Floriane Simonet,Christian Dina,Cedric Pionneau,Jean-Jacques Schott,Ben Yaou Rabah,Gisele Bonne

EUROPEAN JOURNAL OF HUMAN GENETICS（2024）

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Comparative Analysis of CRISPR/Cas9-targeted Nanopore Sequencing Approaches in Repeat Expansion Disorders

G. Bonne,L. Benarroch,P. Boelle,K. Labreche,H. Madry,B. Mohand-Oumoussa,N. Eura,I. Nishino,G. Gourdon,S. Tome

NEUROMUSCULAR DISORDERS (2024)

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Recent Insights in Striated Muscle Laminopathies

Marine Leconte,Gisele Bonne,Anne T. Bertrand

CURRENT OPINION IN NEUROLOGYno. 5 (2024): 509-514

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480P Comparative Analysis of CRISPR/Cas9-targeted Nanopore Long-Read Sequencing Approaches in Repeat Expansion Disorders

G. Bonne,L. Benarroch,P. Boëlle,K. Labrèche,H. Madry,B. Mohand-Oumoussa,N. Eura,I. Nishino,G. Gourdon,S. Tomé

Neuromuscular Disorders（2024）

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The 2025 Version of the Gene Table of Neuromuscular Disorders (nuclear Genome)

Louise Benarroch,Gisèle Bonne,François Rivier,Vincent Procaccio,Dalil Hamroun

Neuromuscular disorders NMD (2024): 105261-105261

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Depressed Mitochondrial Function in Cardiomyopathy Caused by LMNA Gene Mutation Highlighted in Patient-Derived Ipsc-Cms

Magali Seguret,Charlène Jouve,Lucille Deshayes,Céline Pereira,Andrea Ruiz-Velasco,Zeina R. Al Sayed,Karim Wahbi,Antoine Muchir,Gisèle Bonne,Jean-Sébastien Hulot

Archives of cardiovascular diseasesno. 6-7 (2024): S211-S212

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