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Identification of novel pathogenic copy number variations in Charcot-Marie-Tooth disease

 Jeremie Mortreux , Juliette Bacquet , A. Boyer , E. Alazard , R. Bellance , et al.
Journal of Human Genetics, 2019, 65 (3), pp.313-323. ⟨10.1038/s10038-019-0710-5⟩
Article dans une revue hal-03147680v1
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Muscle Cells Fix Breaches by Orchestrating a Membrane Repair Ballet

 Florian Barthelemy , Aurélia Defour , Nicolas Lévy , Martin Krahn , Marc Bartoli
Journal of Neuromuscular Diseases, 2018, 5 (1), pp.21 - 28. ⟨10.3233/JND-170251⟩
Article dans une revue hal-01717649v1
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VarAFT: a variant annotation and filtration system for human next generation sequencing data

 Jean-Pierre Desvignes , Marc Bartoli , Valérie Delague , Martin Krahn , Morgane Miltgen , et al.
Nucleic Acids Research, 2018, 46 (W1), pp.W545-W553. ⟨10.1093/nar/gky471⟩
Article dans une revue hal-01852493v1
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Identification of Splicing Defects Caused by Mutations in the Dysferlin Gene

 Virginie Kergourlay , Ghadi Rai , Gaëlle Blandin , David Salgado , Christophe Béroud , et al.
Human Mutation, 2014, 35 (12), pp.1532-1541. ⟨10.1002/humu.22710⟩
Article dans une revue hal-01610021v1
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UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

 Gaëlle Blandin , Christophe Béroud , Veronique Labelle , Karine Nguyen , Nicolas Wein , et al.
Human Mutation, 2012, 33 (3), pp.E2317-E2331. ⟨10.1002/humu.22015⟩
Article dans une revue hal-01610025v1
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Dysferlin Exon 32 Skipping in Patient Cells

 Florian Barthelemy , Sebastien Courrier , Nicolas Lévy , Martin Krahn , Marc Bartoli
Exon Skipping and Inclusion Therapies, 1828, pp.489-496, 2018, ⟨10.1007/978-1-4939-8651-4_31⟩
Chapitre d'ouvrage hal-02000829v1
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Calf hypertrophy and gastrocnemius MRI short tau inversion recovery (STIR) hyperintensity in a patient with asymptomatic hyperCKemia caused by caveolin-3 gene mutation

 Dimitri Renard , Florence Erny , Dominique Figarella-Branger , Martin Krahn
Neuromuscular Disorders, 2016, 26 (4-5), pp.326-327. ⟨10.1016/j.nmd.2016.02.009⟩
Article dans une revue hal-01480078v1
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Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

 Mario Abaji , Svetlana Gorokhova , Nathalie da Silva , Tiffany Busa , Maude Grelet , et al.
Genes, 2022, 13 (7), ⟨10.3390/genes13071277⟩
Article dans une revue hal-03780226v1
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Prospective high-throughput genome profiling of advanced cancers: results of the PERMED-01 clinical trial

 François Bertucci , Anthony Gonçalves , Arnaud Guille , José Adelaïde , Séverine Garnier , et al.
Genome Medicine, 2021, 13 (1), pp.87. ⟨10.1186/s13073-021-00897-9⟩
Article dans une revue hal-03583277v1
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A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing

 Thibaut Benquey , Emmanuelle Pion , Mireille Cossée , Martin Krahn , Tanya Stojkovic , et al.
Genes, 2022, 13 (2), pp.318. ⟨10.3390/genes13020318⟩
Article dans une revue hal-03590138v1

Clinical massively parallel sequencing for the diagnosis of myopathies

 Svetlana Gorokhova , V. Biancalana , Nicolas Lévy , J. Laporte , Marc Bartoli , et al.
Revue Neurologique, 2015, 171 (6-7), pp.558-571. ⟨10.1016/j.neurol.2015.02.019⟩
Article dans une revue hal-01610014v1

Coverage analysis of lists of genes involved in heterogeneous genetic diseases following benchtop exome sequencing using the ion proton

 Caroline Lacoste , Jean-Pierre Desvignes , David Salgado , Christophe Pecheux , Laurent Villard , et al.
Journal of Genetics, 2016, 95 (1), pp.203-208
Article dans une revue hal-01469051v1
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Efficient Bypass of Mutations in Dysferlin Deficient Patient Cells by Antisense-Induced Exon Skipping

 Nicolas Wein , Aurélie Avril , Marc Bartoli , Cyriaque Beley , Soraya Chaouch , et al.
Human Mutation, 2010, 31 (2), pp.136-142. ⟨10.1002/humu.21160⟩
Article dans une revue hal-01610031v1
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Constitutive Activation of the Calcium Sensor STIM1 Causes Tubular-Aggregate Myopathy

 Johann Böhm , Frédéric Chevessier , André Maues de Paula , Catherine Koch , Shahram Attarian , et al.
American Journal of Human Genetics, 2013, 92 (2), pp.271-278. ⟨10.1016/j.ajhg.2012.12.007⟩
Article dans une revue hal-01610022v1
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Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

 Mathieu Cerino , Svetlana Gorokhova , Pascal Laforet , Rabah Ben Yaou , Emmanuelle Salort-Campana , et al.
Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩
Article dans une revue hal-01741741v1
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Translational Research and Therapeutic Perspectives in Dysferlinopathies

 Florian Barthelemy , Nicolas Wein , Martin Krahn , Nicolas Lévy , Marc Bartoli
Molecular Medicine, 2011, 17 (9-10), pp.875-882. ⟨10.2119/molmed.2011.00084⟩
Article dans une revue hal-01610029v1
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Correction of pseudoexon splicing caused by a novel intronic dysferlin mutation

 Janice Dominov , Özgün Uyan , Diane Mckenna‐yasek , Babi Ramesh Reddy Nallamilli , Virginie Kergourlay , et al.
Annals of Clinical and Translational Neurology, 2019, 6 (4), pp.642-654. ⟨10.1002/acn3.738⟩
Article dans une revue hal-02346918v1
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A Dysferlin Exon 32 Nonsense Mutant Mouse Model Shows Pathological Signs of Dysferlinopathy

 Océane Ballouhey , Marie Chapoton , Benedicte Alary , Sébastien Courrier , Nathalie Da da Silva , et al.
Biomedicines, 2023, 11 (5), pp.1438. ⟨10.3390/biomedicines11051438⟩
Article dans une revue hal-04190207v1

Extension of the phenotypic spectrum of GLE1 ‐related disorders to a mild congenital form resembling congenital myopathy

 Mathieu Cerino , Chloé Di Meglio , Francesca Albertini , Frédérique Audic , Florence Riccardi , et al.
Molecular Genetics & Genomic Medicine, 2020, 8 (8), ⟨10.1002/mgg3.1277⟩
Article dans une revue hal-03222418v1
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Actionable Genes, Core Databases, and Locus-Specific Databases

 Amélie Pinard , Morgane Miltgen , Arnaud Blanchard , Hélène Mathieu , Jean-Pierre Desvignes , et al.
Human Mutation, 2016, 37 (12, SI), pp.1299-1307. ⟨10.1002/humu.23112⟩
Article dans une revue hal-01469071v1
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Therapeutic exon `switching' for dysferlinopathies?

 Nicolas Lévy , Nicolas Wein , Florian Barthelemy , Vincent Mouly , Luis Garcia , et al.
European Journal of Human Genetics, 2010, 18 (9), pp.969-970. ⟨10.1038/ejhg.2010.73⟩
Article dans une revue hal-01610034v1
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Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

 Karine Nguyen , Guillaume Bassez , Rafaelle Bernard , Martin Krahn , Véronique Labelle , et al.
Human Mutation, 2005, 26 (2), pp.165 - 165. ⟨10.1002/humu.9355⟩
Article dans une revue hal-01681874v1

Objective evaluation of clinical actionnability for genes involved in myopathies: 51 promising genes

 Maude Vecten , Emmanuelle Pion , Raul Juntas Morales , Damien Sternberg , John Rendu , et al.
European Journal of Human Genetics, 2022, European Joural of Human Genetics, 30 (SUPPL 1, 1), pp.306
Article dans une revue hal-03678838v1

Myocapture: a large-scale sequencing project to identify novel genes for myopathies

 Xavière Lornage , Raphaël Schneider , Chrystel Chéraud , Edoardo Malfatti , Vanessa Schartner , et al.
Myologie 2019, Mar 2019, Bordeaux, France
Poster de conférence hal-04029248v1

Developing an e-learning tool on medical genetics: APOGeE Project (A Practical Online Genetics e-Education)

 Peter Turnpenny , Johannes Zschocke , Dorica Dan , Sofia Douzgou Houge , Laurence Faivre , et al.
European Journal of Human Genetics, 2022, 30 (SUPPL 1, 1), pp.562-563
Article dans une revue hal-03678840v1
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Clinical heterogeneity and phenotype/genotype findings in 5 families with &ITGYG1&IT deficiency

 Rabah Ben Yaou , Aurelie Hubert , Isabelle Nelson , Julia R. Dahlqvist , David Gaist , et al.
Neurology Genetics, 2017, 3 (6), pp.e208. ⟨10.1212/NXG.0000000000000208⟩
Article dans une revue hal-04010378v2
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Identification of Variants in the 4q35 Gene FAT1 in Patients with a Facioscapulohumeral Dystrophy-Like Phenotype

 Francesca Puppo , Eugénie Dionnet , Marie-Cécile Gaillard , Pascaline Gaildrat , Christel Castro , et al.
Human Mutation, 2015, 36 (4), pp.443 - 453. ⟨10.1002/humu.22760⟩
Article dans une revue hal-01662841v1
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Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients

 Théo Charnay , Véronique Blanck , Mathieu Cerino , Marc Bartoli , Florence Riccardi , et al.
Genetics in Medicine, 2021, 23 (8), pp.1574 - 1577. ⟨10.1038/s41436-021-01164-3⟩
Article dans une revue hal-03667258v1
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Objective Evaluation of Clinical Actionability for Genes Involved in Myopathies: 63 Genes with a Medical Value for Patient Care

 Maude Vecten , Emmanuelle Pion , Marc Bartoli , Raul Juntas Morales , Damien Sternberg , et al.
International Journal of Molecular Sciences, 2022, 23 (15), pp.8506. ⟨10.3390/ijms23158506⟩
Article dans une revue hal-03751530v1

Caractérisation phénotypique et génomique des patients Becker avec délétion des exons 45-55

 Elena Gargaun , Rabah Ben Yaou , Guilhem Solé , Vincent Tiffreau , Pascale Laforet , et al.
29ème Congrès de la Société Française de Neurologie Pédiatrique, Jan 2019, Strasbourg (FRANCE), France
Poster de conférence hal-04015227v1
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