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	Pour les 44 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 Page suivante	triés par Pertinence Auteur A→Z Auteur Z→A Titre A→Z Titre Z→A Date de publication croissante Date de publication décroissante Date de dépôt croissante Date de dépôt décroissante

		Singular DYT6 phenotypes in association with new THAP1 frameshift mutations Arnaud Blanchard , Agathe Roubertie , Marion Simonetta-Moreau , Vuthy Ea , Coline Coquart , et al. Movement Disorders, 2011, 26 (9), pp.1775 - 1776. ⟨10.1002/mds.23641⟩ Article dans une revue istex hal-01670065v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene Aliya Ishmukhametova , Philippe Khau van Kien , Deborah Mechin , Delphine Thorel , Marie-Claire Vincent , et al. European Journal of Human Genetics, 2012, 20 (10), pp.1096-1100. ⟨10.1038/ejhg.2012.51⟩ Article dans une revue hal-02444080v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study Laura Cif , Xavier Vasques , Victoria Gonzalez , Patrice Ravel , Brigitte Biolsi , et al. Movement Disorders, 2010, 25 (3), pp.289 - 299. ⟨10.1002/mds.22802⟩ Article dans une revue hal-01669958v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials Véronique Humbertclaude , Dalil Hamroun , Kamel Bezzou , Carole Bérard , Odile Boespflug-Tanguy , et al. European Journal of Paediatric Neurology, 2012, 16 (2), pp.149 - 160. ⟨10.1016/j.ejpn.2011.07.001⟩ Article dans une revue istex hal-01681808v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene Caroline Raynal , David Baux , Corinne Thèze , Corinne Bareil , Magali Taulan , et al. Human Mutation, 2013, 34 (5), pp.774-784. ⟨10.1002/humu.22291⟩ Article dans une revue istex hal-02441699v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy Luca Bello , Kevin Flanigan , Robert Weiss , Pietro Spitali , Annemieke Aartsma-Rus , et al. American Journal of Human Genetics, 2016, 99 (5), pp.1163-1171. ⟨10.1016/j.ajhg.2016.08.023⟩ Article dans une revue hal-02436506v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France? Mélissa Yana Frédéric , Fabienne Clot , Laura Cif , Arnaud Blanchard , Alexandra Dürr , et al. neurogenetics, 2008, 9 (2), pp.143-50. ⟨10.1007/s10048-008-0123-7⟩ Article dans une revue inserm-00343965v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants Janneke van den Bergen , Monika Hiller , Stefan Böhringer , Linda Vijfhuizen , Hendrika Ginjaar , et al. Journal of Neurology, Neurosurgery and Psychiatry, 2015, 86 (10), pp.1060-1065. ⟨10.1136/jnnp-2014-308409⟩ Article dans une revue hal-02436450v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay Julie Miro , Cyril F. Bourgeois , Mireille Claustres , Michel Koenig , Sylvie Tuffery-Giraud Methods in Molecular Biology, 2018, 1687, pp.157--169. ⟨10.1007/978-1-4939-7374-3_11⟩ Article dans une revue hal-02350943v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis Jennifer Bonini , Jessica Varilh , Caroline Raynal , Corinne Thèze , Emmanuelle Beyne , et al. Genetics in Medicine, 2015, 17 (10), pp.796-806. ⟨10.1038/gim.2014.194⟩ Article dans une revue hal-02434833v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes Sandie Le Guédard-Méreuze , Christel Vache , David Baux , Valérie Faugère , Lise Larrieu , et al. Human Mutation, 2010, 31 (3), pp.347-355. ⟨10.1002/humu.21193⟩ Article dans une revue istex hal-02444172v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The p.Asp216His TOR1A allele effect is not found in the French population. Mélissa Yana Frédéric , Fabienne Clot , Arnaud Blanchard , Claire-Marie Dhaenens , Gaetan Lesca , et al. Movement Disorders, 2009, 24 (6), pp.919-21. ⟨10.1002/mds.22407⟩ Article dans une revue inserm-00396259v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data Raphaël Porcher , Isabelle Desguerre , Helge Amthor , Brigitte Chabrol , Frédérique Audic , et al. European Heart Journal, 2021, ⟨10.1093/eurheartj/ehab054⟩ Article dans une revue hal-03179750v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Non-USH2A mutations in USH2 patients. Thomas Besnard , Christel Vaché , David Baux , Lise Larrieu , Caroline Abadie , et al. Human Mutation, 2012, 33 (3), pp.504-10. ⟨10.1002/humu.22004⟩ Article dans une revue inserm-00650795v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Normal and altered pre-mRNA processing in the DMD gene Sylvie Tuffery-Giraud , Julie Miro , Michel Koenig , Mireille Claustres Human Genetics, 2017, 136 (9), pp.1155--1172. ⟨10.1007/s00439-017-1820-9⟩ Article dans une revue hal-01760830v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population. Mélissa y Frédéric , Estelle Lucarz , Christine Monino , Céline Saquet , Delphine Thorel , et al. Movement Disorders, 2007, 22 (6), pp.884-8. ⟨10.1002/mds.21391⟩ Article dans une revue istex inserm-00143113v2	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue hal-01792956v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein Cécile Rouzier , Sandie Le Guédard-Méreuze , Konstantina Fragaki , Valérie Serre , Julie Miro , et al. Journal of Medical Genetics, 2010, 47 (10), pp.670. ⟨10.1136/jmg.2009.073445⟩ Article dans une revue hal-00557375v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Sequence Contexts That Determine the Pathogenicity of Base Substitutions at Position+3 of Donor Splice-Sites S. Le Guedard-Mereuze , C. Vache , Nicolas Molinari , J. Vaudaine , M. Claustres , et al. Human Mutation, 2009, 30 (9), pp.1329-1339. ⟨10.1002/humu.21070⟩ Article dans une revue hal-02665802v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		FUBP1: a new protagonist in splicing regulation of the DMD gene J. Miro , A. M. Laaref , V. Rofidal , R. Lagrafeuille , S. Hem , et al. Nucleic Acids Research, 2015, 43 (4), pp.2378-2389. ⟨10.1093/nar/gkv086⟩ Article dans une revue hal-01279092v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation Dylan da Cunha , Julie Miro , Charles van Goethem , Cécile Notarnicola , Gérald Hugon , et al. Cellular and Molecular Life Sciences, 2024, 81 (1), pp.150. ⟨10.1007/s00018-024-05188-1⟩ Article dans une revue hal-04518672v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene Julie Miro , Anne-Laure Bougé , Eva Murauer , Emmanuelle Beyne , Dylan da Cunha , et al. International Journal of Molecular Sciences, 2020, 21 (20), pp.7803. ⟨10.3390/ijms21207803⟩ Article dans une revue hal-03234304v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards” Heather Howard , Ourania Horaitis , Richard G.H. Cotton , Mauno Vihinen , Raymond Dalgleish , et al. Human Mutation, 2010, 31 (3), pp.366-367. ⟨10.1002/humu.21175⟩ Article dans une revue hal-02446664v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia Catherine Bladen , Karen Rafferty , Volker Straub , Soledad Monges , Angélica Moresco , et al. Human Mutation, 2013, 34 (11), pp.1449 - 1457. ⟨10.1002/humu.22390⟩ Article dans une revue istex hal-01681801v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		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⟩ Article dans une revue istex inserm-00381940v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements. A. Disset , C. F. Bourgeois , N. Benmalek , M. Claustres , J. Stevenin , et al. Human Molecular Genetics, 2006, 15 (6), pp.999-1013. ⟨10.1093/hmg/ddl015⟩ Article dans une revue hal-00187889v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy Annemieke Aartsma-Rus , Madhuri Hegde , Tawfeg Ben-Omran , Filippo Buccella , Alessandra Ferlini , et al. The Journal of Pediatrics, 2019, 204, pp.305-313.e14. ⟨10.1016/j.jpeds.2018.10.043⟩ Article dans une revue hal-02438933v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Becker muscular dystrophy severity is linked to the structure of dystrophin. Aurélie Nicolas , Céline Raguénès-Nicol , Rabah Ben Yaou , Sarah Ameziane-Le Hir , Angélique Chéron , et al. Human Molecular Genetics, 2015, 24 (5), pp.1267-79. ⟨10.1093/hmg/ddu537⟩ Article dans une revue hal-01117005v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies Stephen Abbs , Sylvie Tuffery-Giraud , Egbert Bakker , Alessandra Ferlini , Thomas Sejersen , et al. Neuromuscular Disorders, 2010, 20 (6), pp.422-427. ⟨10.1016/j.nmd.2010.04.005⟩ Article dans une revue hal-02446658v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria Xiangzhong Zhao , Li Cui , Yanhua Lang , Ting Liu , Jingru Lu , et al. Scientific Reports, 2016, 6 (1), ⟨10.1038/srep33920⟩ Article dans une revue hal-02436517v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Singular DYT6 phenotypes in association with new THAP1 frameshift mutations

Comprehensive oligonucleotide array-comparative genomic hybridization analysis: new insights into the molecular pathology of the DMD gene

Long-term follow-up of DYT1 dystonia patients treated by deep brain stimulation: An open-label study

Motor and respiratory heterogeneity in Duchenne patients: Implication for clinical trials

A Classification Model Relative to Splicing for Variants of Unknown Clinical Significance: Application to the CFTR Gene

Association Study of Exon Variants in the NF-κB and TGFβ Pathways Identifies CD40 as a Modifier of Duchenne Muscular Dystrophy

Is the early-onset torsion dystonia (EOTD) linked to TOR1A gene as frequent as expected in France?

Validation of genetic modifiers for Duchenne muscular dystrophy: a multicentre study assessing SPP1 and LTBP4 variants

Identification of Splicing Factors Involved in DMD Exon Skipping Events Using an In Vitro RNA Binding Assay

Small-scale high-throughput sequencing–based identification of new therapeutic tools in cystic fibrosis

Ex vivo splicing assays of mutations at noncanonical positions of splice sites in USHER genes

The p.Asp216His TOR1A allele effect is not found in the French population.

Association between prophylactic angiotensin-converting enzyme inhibitors and overall survival in Duchenne muscular dystrophy—analysis of registry data

Non-USH2A mutations in USH2 patients.

Normal and altered pre-mRNA processing in the DMD gene

First determination of the incidence of the unique TOR1A gene mutation, c.907delGAG, in a Mediterranean population.

Targeted RNA-Seq profiling of splicing pattern in the DMD gene: exons are mostly constitutively spliced in human skeletal muscle

The severity of phenotype linked to SUCLG1 mutations could be correlated with residual amount of SUCLG1 protein

Sequence Contexts That Determine the Pathogenicity of Base Substitutions at Position+3 of Donor Splice-Sites

FUBP1: a new protagonist in splicing regulation of the DMD gene

The exon junction complex is required for DMD gene splicing fidelity and myogenic differentiation

First Identification of RNA-Binding Proteins That Regulate Alternative Exons in the Dystrophin Gene

The Human Variome Project (HVP) 2009 Forum “Towards Establishing Standards”

The TREAT-NMD Duchenne Muscular Dystrophy Registries: Conception, Design, and Utilization by Industry and Academia

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.

An exon skipping-associated nonsense mutation in the dystrophin gene uncovers a complex interplay between multiple antagonistic splicing elements.

Evidence-Based Consensus and Systematic Review on Reducing the Time to Diagnosis of Duchenne Muscular Dystrophy

Becker muscular dystrophy severity is linked to the structure of dystrophin.

Best Practice Guidelines on molecular diagnostics in Duchenne/Becker muscular dystrophies

A recurrent deletion in the SLC5A2 gene including the intron 7 branch site responsible for familial renal glucosuria