Explanipedia

Clinical, morphological, and molecular characterization of patients with X-linked myopathy with excessive autophagy (XMEA) Open

Angèle N. Merlet, C. Labasse, A. Chanut, Gisèle Bonne, Marie-Christine Minot , et al. · 2025

X-linked myopathy with excessive autophagy (XMEA) is a slowly progressive disease affecting male patients, caused by hemizygous mutations in the VMA21 gene. We studied nine patients from six unrelated French families clinically suspected o…

LeDucq-funded programme: from pathomechanisms to personalized therapy of cardio-laminopathy Open

Gisèle Bonne, Jan Lammerding, Haiyuan Yu, Ioannis Karakikes, Leon J. Schurgers , et al. · 2025

The burden of TTN variants in the genomic era: analysis of 18,462 individuals from the Solve-RD consortium and general recommendations Open

Maria Francesca Di Feo, Marcos Fernandez-Callejo, Leslie Matalonga Borrel, Ana Töpf, Han Brunner , et al. · 2025

This study highlights the need for standardized approach to TTN variants, and investigation of missing heritability in myopathic individuals with het TTNtv. Establishing consensus on PSI-based thresholds will be essential for assessing car…

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

Louise Benarroch, Pierre‐Yves Boëlle, Hélène Madry, Badreddine Mohand Oumoussa, Nobuyuki Eura , et al. · 2025

More than 50 repeat expansion disorders have been identified, with long-read sequencing marking a new milestone in the diagnosis of these disorders. Despite these major achievements, the comprehensive characterization of short tandem repea…

Advanced human iPSC-based modelling ofLMNA-related congenital muscular dystrophy enables development of targeted genetic therapies for muscle laminopathies Open

Daniel P. Moore, Heather B. Steele-Stallard, Luca Pinton, Valentina M. Lionello, Lucia Rossi , et al. · 2025

LMNA -related congenital muscular dystrophy (L-CMD) is amongst the most severe forms of laminopathies, which are diseases caused by pathogenic variants in the LMNA gene. LMNA encodes the proteins LAMINs A and C, which assemble with LAMIN B…

Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Open

Steven Laurie, Iris te Paske, Nienke van Os, Kiran Polavarapu, Nika Schuermans , et al. · 2025

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy Open

Maureen Jacob, Heike Kölbel, Philip Harrer, Robert Kopajtich, Pinki Munot , et al. · 2025

Dystonin (DST) encodes three major isoforms, DST-a, DST-b, and DST-e. Biallelic pathogenic variants in DST have previously been associated with two allelic monogenic disorders: Hereditary Sensory and Autonomic Neuropathy type VI (caused by…

Canonical nuclear envelope protein emerin regulates structure and integrity of the erythrocyte plasma membrane Open

Brendan O'Brien, Janet M. Oliver, Evrett Thompson, Madeline Y. Mayday, Rubia Isler Mancuso , et al. · 2025

Red blood cells (RBC) are essential for the survival of aerobic organisms. Mutations in RBC plasma membrane proteins can give rise to a spectrum of diseases characterized by hemolysis, inefficient gas exchange, and anemia. We tested whethe…

Cardiac fibroblasts counterbalance cardiomyocytes in LMNA cardiomyopathy pathogenesis Open

Kunal Sikder, Elizabeth Phillips, Nesrine Bouhrira, David Mothy, Nadan Wang , et al. · 2025

Genetic cardiomyopathies arising from mutations in the LMNA gene, encoding nuclear intermediate filaments lamin A/C, display variable age of onset, severity, and fibrosis development. This variability suggests a fundamental element in dise…

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses Open

Steven Laurie, Iris te Paske, Nienke van Os, Kiran Polavarapu, Nika Schuermans , et al. · 2025

The 2025 version of the gene table of neuromuscular disorders (nuclear genome) Open

Louise Benarroch, Gisèle Bonne, François Rivier, Vincent Procaccio, Dalil Hamroun · 2024

Comparative analysis of CRISPR/Cas9-targeted nanopore sequencing approaches in repeat expansion disorders Open

Louise Benarroch, Pierre‐Yves Boëlle, Hélène Madry, Badreddine Mohand Oumoussa, Nobuyuki Eura , et al. · 2024

More than 50 repeat expansion disorders have been identified, with long-read sequencing marking a new milestone in the diagnosis of these disorders. Despite these major achievements, the comprehensive characterization of short tandem repea…

L’actionnabilité clinique des gènes Open

Emmanuelle Pion, Gisèle Bonne, António Atalaia, Emmanuelle Salort-Campana, Svetlana Gorokhova , et al. · 2024

Le séquençage à haut débit a introduit le concept de « gènes actionnables ». Ces gènes sont liés à des pathologies pour lesquelles des traitements ou des prises en charge spécifiques existent. Un diagnostic génétique précis est donc crucia…

Author Correction: A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Open

Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curró, Macarena Cabrera‐Serrano , et al. · 2024

Heterozygous loss-of-function variants in SPTAN1 cause a novel early childhood onset distal myopathy with chronic neurogenic features Open

Jonathan De Winter, Liedewei Van de Vondel, Biljana Ermanoska, Alice Monticelli, Arnaud Isapof , et al. · 2024

Background Neurogenetic disorders caused by pathogenic variants in four genes encoding non-erythrocytic spectrins ( SPTAN1, SPTBN1, SPTBN2, SPTBN4) range from peripheral and central nervous system involvement to complex syndromic presentat…

The p.H222P lamin A/C mutation induces heart failure via impaired mitochondrial calcium uptake in human cardiac laminopathy Open

Magali Seguret, Charlène Jouve, Andrea Ruiz‐Velasco, Lucille Deshayes, Zoheir Guesmia , et al. · 2024

Background: Mutations in the LMNA gene, which encodes lamin A/C, cause a variety of diseases known as laminopathies. Some mutations are particularly associated with the occurrence of dilated cardiomyopathy and heart failure, but the genoty…

A CCG expansion in ABCD3 causes oculopharyngodistal myopathy in individuals of European ancestry Open

Andrea Cortese, Sarah J. Beecroft, Stefano Facchini, Riccardo Curró, Macarena Cabrera‐Serrano , et al. · 2024

Oculopharyngodistal myopathy (OPDM) is an inherited myopathy manifesting with ptosis, dysphagia and distal weakness. Pathologically it is characterised by rimmed vacuoles and intranuclear inclusions on muscle biopsy. In recent years CGG • …

Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes Open

German Demidov, Steven Laurie, Annalaura Torella, Giulio Piluso, Marcello Scala , et al. · 2024

The 2024 version of the gene table of neuromuscular disorders (nuclear genome) Open

Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun · 2023

Titin copy number variations associated with dominant inherited phenotypes Open

Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou, German Demidov , et al. · 2023

Background Titinopathies are caused by mutations in the titin gene ( TTN ). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons. Titinopathies are very complex neuromuscular pathologies due to the…

Un nouveau groupe de travail recherche Filnemus Open

Valérie Allamand, Gisèle Bonne · 2023

4th International Meeting on Laminopathies, Madrid, 9-12 May, 2023 Open

Louise Benarroch, Anne Bertrand, Maud Beuvin, Isabelle Nelson, Floriane Simonet , et al. · 2023

International audience

Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA Open

Ellen F. Gregory, Shilpi Kalra, Trisha Brock, Gisèle Bonne, G. W. Gant Luxton , et al. · 2023

Striated muscle laminopathies caused by missense mutations in the nuclear lamin gene LMNA are characterized by cardiac dysfunction and often skeletal muscle defects. Attempts to predict which LMNA variants are pathogenic and to understand …

Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts Open

Louise Benarroch, Julia Madsen‐Østerbye, Mohamed Abdelhalim, Kamel Mamchaoui, Jessica Ohana , et al. · 2023

The ability to recapitulate muscle differentiation in vitro enables the exploration of mechanisms underlying myogenesis and muscle diseases. However, obtaining myoblasts from patients with neuromuscular diseases or from healthy subjects po…

253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24–26 June 2022, Hoofddorp, the Netherlands Open

Lorenzo Maggi, Susana Quijano‐Roy, C. Bönnemann, Gisèle Bonne · 2023

Caenorhabditis elegansmodels for striated muscle disorders caused by missense variants of humanLMNA Open

Ellen F. Gregory, Shilpi Kalra, Trisha Brock, Gisèle Bonne, G. W. Gant Luxton , et al. · 2023

Striated muscle laminopathies caused by missense mutations in the nuclear lamin gene LMNA are characterized by cardiac dysfunction and often skeletal muscle defects. Attempts to predict which LMNA variants are pathogenic and to understand …

TOR1AIP1-Associated Nuclear Envelopathies Open

Laurane Mackels, Xincheng Liu, Gisèle Bonne, Laurent Servais · 2023

Human TOR1AIP1 encodes LAP1, a nuclear envelope protein expressed in most human tissues, which has been linked to various biological processes and human diseases. The clinical spectrum of diseases related to mutations in TOR1AIP1 is broad,…

A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing Open

Anne‐Sophie Denommé‐Pichon, Leslie Matalonga, Elke de Boer, Adam Jackson, Elisa Benetti , et al. · 2023

The 2023 version of the gene table of neuromuscular disorders (nuclear genome) Open

Louise Benarroch, Gisèle Bonne, François Rivier, Dalil Hamroun · 2022

Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care Open

Maude Vecten, Emmanuelle Pion, Marc Bartoli, Raúl Juntas Morales, Damien Sternberg , et al. · 2022

The implementation of high-throughput diagnostic sequencing has led to the generation of large amounts of mutational data, making their interpretation more complex and responsible for long delays. It has been important to prioritize certai…

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