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The importance of an integrated genotype-phenotype strategy to unravel the molecular bases of titinopathies

Aurélien Perrin , Raul Juntas Morales , Francois Rivier , Claude Cances , Ulrike Walther-Louvier , et al.
Neuromuscular Disorders, 2020, ⟨10.1016/j.nmd.2020.09.032⟩
Journal articles hal-02985653v1
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Multiexon skipping leading to an artificial DMD protein lacking amino acids from exons 45 through 55 could rescue up to 63% of patients with Duchenne muscular dystrophy.

Christophe Béroud , Sylvie Tuffery-Giraud , Masafumi Matsuo , Dalil Hamroun , Véronique Humbertclaude , et al.
Human Mutation, 2007, 28 (2), pp.196-202. ⟨10.1002/humu.20428⟩
Journal articles istex inserm-00381940v1
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An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families

Raul Juntas Morales , Aurélien Perrin , Guilhem Solé , Delphine Lacourt , Henri Pegeot , et al.
Genes, 2021, 12 (8), pp.1199. ⟨10.3390/genes12081199⟩
Journal articles hal-03314914v2
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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⟩
Journal articles hal-03590138v1
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The c.429_452 duplication of the ARX gene: a unique developmental-model of limb kinetic apraxia.

Aurore Curie , Tatjana Nazir , Amandine Brun , Yves Paulignan , Anne Reboul , et al.
Orphanet Journal of Rare Diseases, 2014, 9, pp.25. ⟨10.1186/1750-1172-9-25⟩
Journal articles hal-01020483v1
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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, In press, 8 (9), pp.1906-1912. ⟨10.1002/acn3.51434⟩
Journal articles hal-03304664v1
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Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires

Aurélien Perrin , Philippe Latour , Vincent Procaccio , Claude Jardel , Mathieu Cerino , et al.
Médecine/Sciences, 2018, 34 (Hors-série 2), pp.20-22. ⟨10.1051/medsci/201834s206⟩
Journal articles hal-01938567v1
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Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia

Heba Morsy , Mehdi Benkirane , Elisa Cali , Clarissa Rocca , Kristina Zhelcheska , et al.
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Journal articles hal-03840317v1
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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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Evaluating the Transition from Targeted to Exome Sequencing: A Guide for Clinical Laboratories

Kevin Yauy , Charles van Goethem , Henri Pégeot , David Baux , Thomas Guignard , et al.
International Journal of Molecular Sciences, 2023, 24 (8), pp.7330. ⟨10.3390/ijms24087330⟩
Journal articles hal-04085195v1
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Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains

Aurélien Perrin , Charles van Goethem , Corinne Thèze , Jacques Puechberty , Thomas Guignard , et al.
Journal of Molecular Diagnostics, In press, ⟨10.1016/j.jmoldx.2022.04.006⟩
Journal articles hal-03672757v1

Use of SNP array analysis to identify a novel TRIM32 mutation in limb-girdle muscular dystrophy type 2H.

Mireille Cossée , Clotilde Lagier-Tourenne , Claire Seguela , Michel Mohr , France Leturcq , et al.
Neuromuscular Disorders, 2009, 19 (4), pp.255-60. ⟨10.1016/j.nmd.2009.02.003⟩
Journal articles istex inserm-00383333v1
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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⟩
Journal articles hal-03751530v1