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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.
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.
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.
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.
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.
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.
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.
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.
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.
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.
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 articles
hal-03672757v1
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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.
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.
Journal articles
hal-03751530v1
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