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Noninvasive prenatal diagnosis of genetic diseases induced by triplet repeat expansion by linked read haplotyping and Bayesian approach
C. Liautard-Haag
,
G. Durif
,
C. Vangoethem
,
D. Baux
,
A. Louis
,
et al.
Journal articles
hal-03716132v1
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The first cellular models based on frataxin missense mutations that reproduce spontaneously the defects associated with Friedreich ataxia.
Nadège Calmels
,
Stéphane Schmucker
,
Marie Wattenhofer-Donzé
,
Alain Martelli
,
Nadège Vaucamps
,
et al.
Journal articles
inserm-00420396v1
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Ataxia with oculomotor apraxia type 2: clinical, biological and genotype/phenotype correlation study of a cohort of 90 patients.
Mathieu Anheim
,
Ben Monga
,
Marie Fleury
,
P. Charles
,
Clara Barbot
,
et al.
Journal articles
inserm-00437772v1
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Autosomal dominant SPG9: intrafamilial variability and onset during pregnancy
Cécilia Marelli
,
Stéphanie Badiou
,
Steeve Genestet
,
L. Larrieu
,
P. Damier
,
et al.
Journal articles
hal-02524578v1
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ATP8A2-related disorders as recessive cerebellar ataxia
Claire Guissart
,
Alexander Harrison
,
Mehdi Benkirane
,
Ibrahim Oncel
,
Elif Acar Arslan
,
et al.
Journal articles
hal-03368381v1
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Exonic Deletions of FXN and Early-Onset Friedreich Ataxia.
Mathieu Anheim
,
Louise-Laure Mariani
,
Patrick Calvas
,
Emmanuel Cheuret
,
Fabien Zagnoli
,
et al.
Journal articles
inserm-00683247v1
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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 new congenital multicore titinopathy associated with fast myosin heavy chain deficiency
Aurélien Perrin
,
Corinne Metay
,
Marcello Villanova
,
Robert-Yves Carlier
,
Elena Pegoraro
,
et al.
Journal articles
hal-02573441v1
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Clinical and molecular findings of ataxia with oculomotor apraxia type 2 in 4 families.
Mathieu Anheim
,
Marie-Celine Fleury
,
Jerome Franques
,
Maria-Ceu Moreira
,
Jean-Pierre Delaunoy
,
et al.
Journal articles
inserm-00357160v1
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The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes MYO7A and USH2A
Luke Mansard
,
David Baux
,
Christel Vaché
,
Catherine Blanchet
,
Isabelle Meunier
,
et al.
Journal articles
hal-03503346v1
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Assessment of the latest NGS enrichment capture methods in clinical context
Gema García-García
,
David Baux
,
Valérie Faugère
,
Mélody Moclyn
,
Michel Koenig
,
et al.
Journal articles
hal-01879936v1
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Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.
José Gazulla
,
Isabel Benavente
,
Isabel Pérez López-Fraile
,
Pedro Modrego
,
Michel Koenig
Journal articles
istex
inserm-00420805v1
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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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The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature
Juliette C Piard
,
Lara Hawkes
,
Mathieu Milh
,
Laurent Villard
,
Renato Borgatti
,
et al.
Journal articles
hal-01932796v1
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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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Limitations in a frataxin knockdown cell model for Friedreich ataxia in a high-throughput drug screen.
Nadège Calmels
,
Hervé Seznec
,
Pascal Villa
,
Laurence Reutenauer
,
Marcel Hibert
,
et al.
Journal articles
inserm-00420798v1
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Autosomal Recessive Cerebellar Ataxias With Elevated Alpha‐Fetoprotein: Uncommon Diseases, Common Biomarker
Mathilde Renaud
,
Christine Tranchant
,
Michel Koenig
,
Mathieu Anheim
Journal articles
hal-03275361v1
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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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SPG11 spastic paraplegia : A new cause of juvenile parkinsonism.
Mathieu Anheim
,
Clotilde Lagier-Tourenne
,
Giovanni Stevanin
,
Marie Fleury
,
Alexandra Durr
,
et al.
Deutsche Zeitschrift für Nervenheilkunde / Deutsche Zeitschrift f ur Nervenheilkunde, 2009, 256 (1), pp.104-8. ⟨10.1007/s00415-009-0083-3⟩
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istex
inserm-00370093v1
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Two neurologic facets of CTLA4-related haploinsufficiency
Xavier Ayrignac
,
Radjiv Goulabchand
,
Eric Jeziorski
,
Patricia Rullier
,
Clarissa Carra-Dallière
,
et al.
Journal articles
hal-03346509v1
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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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Molecular and clinical study of a cohort of 110 Algerian patients with autosomal recessive ataxia
Wahiba Hamza
,
Lamia Ali Pacha
,
Tarik Hamadouche
,
Jean Muller
,
Nathalie Drouot
,
et al.
Journal articles
inserm-01264502v1
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Mutation of SLC9A1, encoding the major Na+/H+ exchanger, causes ataxia-deafness Lichtenstein-Knorr syndrome
C. Guissart
,
Xiaojian Li
,
B. Leheup
,
N. Drouot
,
B. Montaut-Verient
,
et al.
Journal articles
hal-01682843v1
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A 4.6 Mb Inversion Leading to PCDH15-LINC00844 and BICC1-PCDH15 Fusion Transcripts as a New Pathogenic Mechanism Implicated in Usher Syndrome Type 1
Christel Vaché
,
Jacques Puechberty
,
Valérie Faugère
,
Floriane Darmaisin
,
Alessandro Liquori
,
et al.
Journal articles
hal-03257892v1
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Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle
Anne-Laure Bouge
,
Eva Murauer
,
Emmanuelle Beyne
,
Julie Miro
,
Jessica Varilh
,
et al.
Journal articles
hal-01792956v1
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Non-invasive prenatal diagnosis of monogenic disorders: an optimized protocol using MEMO qPCR with miniSTR as internal control
Claire Guissart
,
Vanessa Debant
,
Marie Desgeorges
,
Corinne Bareil
,
Caroline Raynal
,
et al.
Journal articles
hal-02273004v1
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