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authIdHal_s : michel-koenig
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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.
Scientific Reports, 2022, 12 (1), pp.11423. ⟨10.1038/s41598-022-15307-2⟩
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.
PLoS ONE, 2009, 4 (7), pp.e6379. ⟨10.1371/journal.pone.0006379⟩
Journal articles inserm-00420396v1

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.
Brain - A Journal of Neurology , 2009, 132 (Pt 10), pp.2688-98. ⟨10.1093/brain/awp211⟩
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.
Neurological Sciences, In press, 41 (7), pp.1931-1933. ⟨10.1007/s10072-020-04341-5⟩
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 of Neurology, 2020, 267 (1), pp.203-213. ⟨10.1007/s00415-019-09579-4⟩
Journal articles hal-03368381v1

Exonic Deletions of FXN and Early-Onset Friedreich Ataxia.

Mathieu Anheim , Louise-Laure Mariani , Patrick Calvas , Emmanuel Cheuret , Fabien Zagnoli , et al.
Archives of Neurology -Chigago-, 2012, 69 (7), pp.912-6. ⟨10.1001/archneurol.2011.834⟩
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.
Genes, 2021, 12 (8), pp.1199. ⟨10.3390/genes12081199⟩
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.
Annals of Clinical and Translational Neurology, 2020, ⟨10.1002/acn3.51031⟩
Journal articles hal-02573441v1

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.
Archives of Neurology -Chigago-, 2008, 65 (7), pp.958-62. ⟨10.1001/archneur.65.7.958⟩
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.
International Journal of Molecular Sciences, 2021, 22 (24), pp.13294. ⟨10.3390/ijms222413294⟩
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.
Scientific Reports, 2016, 6, pp.20948. ⟨10.1038/srep20948⟩
Journal articles hal-01879936v1

Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2.

José Gazulla , Isabel Benavente , Isabel Pérez López-Fraile , Pedro Modrego , Michel Koenig
Muscle & nerve. Supplement., 2009, 40 (3), pp.481-5. ⟨10.1002/mus.21328⟩
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.
Neuromuscular Disorders, 2020, ⟨10.1016/j.nmd.2020.09.032⟩
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.
Genetics in Medicine, 2019, 21 (6), pp.1308-1318. ⟨10.1038/s41436-018-0339-3⟩
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.
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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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.
BMC Neurology, 2009, 9, pp.46. ⟨10.1186/1471-2377-9-46⟩
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
Movement Disorders, 2020, 35 (12), pp.2139-2149. ⟨10.1002/mds.28307⟩
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.
Genetics in Medicine, 2022, ⟨10.1016/j.gim.2022.09.013⟩
Journal articles hal-03840317v1

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⟩
Journal articles 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.
Neurology Neuroimmunology & Neuroinflammation, 2020, 7 (4), pp.e751. ⟨10.1212/NXI.0000000000000751⟩
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 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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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.
BMC Medical Genetics, 2015, 16 (1), pp.36. ⟨10.1186/s12881-015-0180-3⟩
Journal articles inserm-01264502v1

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.
Human Molecular Genetics, 2014, 24 (2), pp.463 - 470. ⟨10.1093/hmg/ddu461⟩
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.
Frontiers in Genetics, 2020, 11, pp.623. ⟨10.3389/fgene.2020.00623⟩
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.
Scientific Reports, 2017, 7, pp.39094. ⟨10.1038/srep39094⟩
Journal articles hal-01792956v1

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.
Clinical Chemistry and Laboratory Medicine, 2015, 53 (2), pp.205-15. ⟨10.1515/cclm-2014-0501⟩
Journal articles hal-02273004v1