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	Pour les 72 documents Envoyer sur ORCID RSS ATOM Exporter BibTeX XML-TEI CSV RTF EndNote PDF HTML Export avancé	Page : Page précédente 1 2 3 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

		High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy Maximilien Sochala , Raphaël Porcher , Tanya Stojkovic , Henri Marc Bécane , Anthony Behin , et al. Circulation, 2018, 138 (11), pp.1169-1171. ⟨10.1161/CIRCULATIONAHA.118.035035⟩ Article dans une revue hal-02357318v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing. Yu-Chih Tsai , Laure de Pontual , Cheryl Heiner , Tanya Stojkovic , Denis Furling , et al. Myology 2022, Sep 2022, Nice, France Poster de conférence hal-04005603v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations N. Voermans , R. van der Bilt , J. Ijspeert , J. Hogrel , M. Jeanpierre , et al. Journal of Neurology, 2019, 266 (12), pp.2987-2996. ⟨10.1007/s00415-019-09494-8⟩ Article dans une revue hal-03875176v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Recherche pharmacologique et cellules souches pluripotentes : du paradigme expérimental novateur à l’essai clinique fructueux Sandrine Baghdoyan , Guillaume Bassez , Etienne Audureau , Marc Peschanski Médecine/Sciences, 2019, 35 (1), pp.26-29. ⟨10.1051/medsci/2018316⟩ Article dans une revue hal-02970141v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood Remco T P van Cruchten , Daniël van As , Jeffrey C Glennon , Baziel G M van Engelen , K Okkersen , et al. BMC Medicine, 2022, 20 (1), pp.395. ⟨10.1186/s12916-022-02591-y⟩ Article dans une revue hal-03848010v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care Marie de Antonio , Celine Dogan , Ferroudja Daidj , Bruno Eymard , Jack Puymirat , et al. Orphanet Journal of Rare Diseases, 2019, 14 (1), pp.122. ⟨10.1186/s13023-019-1088-3⟩ Article dans une revue hal-02148794v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing Yu-Chih Tsai , Laure de Pontual , Cheryl Heiner , T. Stojkovic , Denis Furling , et al. PacBio users 2022, May 2022, Paris, France Communication dans un congrès hal-04004337v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort Sarah Cumming , Cecilia Jimenez-Moreno , Kees Okkersen , Stephan Wenninger , Ferroudja Daidj , et al. Neurology, 2019, 93 (10), pp.e995-e1009. ⟨10.1212/WNL.0000000000008056⟩ Article dans une revue hal-03875166v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Consensus-based care recommendations for adults with myotonic dystrophy type 2 Benedikt Schoser , Federica Montagnese , Guillaume Bassez , Barbara Fossati , Josep Gamez , et al. Neurology: Clinical Practice, 2019, 9 (4), pp.343-353. ⟨10.1212/CPJ.0000000000000645⟩ Article dans une revue hal-03875193v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers Teresinha Evangelista , Xavière Lornage , Pierre Carlier , Guillaume Bassez , Guy Brochier , et al. Journal of Neurology, Neurosurgery and Psychiatry, 2020, 79 (8), pp.908-914. ⟨10.1093/jnen/nlaa052⟩ Article dans une revue hal-03664347v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		THE QUALITY OF LIFE IN GENETIC NEUROMUSCULAR DISEASE QUESTIONNAIRE: RASCH VALIDATION OF THE FRENCH VERSION Antoine Dany , Amandine Rapin , Brice Lavrard , Virginie Saoût , Christian Réveillère , et al. Muscle & Nerve, 2017, pp.1085-1091. ⟨10.1002/mus.25598⟩ Article dans une revue hal-02473345v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing Yu-Chih Tsai , Laure de Pontual , Chéryl Heiner , Tanya Stojkovic , Denis Furling , et al. FASEB, The dynamic DNA structures in biology conference, Jun 2022, Nova Scotia, Canada Communication dans un congrès hal-04004408v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Satellite cells attract monocytes and use macrophages as a support to escape apoptosis and enhance muscle growth Bénédicte Chazaud , Corinne Sonnet , Peggy Lafuste , Guillaume Bassez , Anne-Cécile Rimaniol , et al. Journal of Cell Biology, 2007, 163, pp.1133 - 1143. ⟨10.1083/jcb.200212046⟩ Article dans une revue hal-03184307v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Atteintes rétiniennes dans la DM1 : revue de la littérature et présentation d’un projet basé sur DM-Scope T.N. Brignol , N. Leveziel , C. Dogan , H. Moussu-Haudebourg , G. Bassez Journal Français d'Ophtalmologie, 2018, 41 (9), pp.e445-e446. ⟨10.1016/j.jfo.2018.03.016⟩ Article dans une revue hal-03875139v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		The wide spectrum of COVID-19 neuropsychiatric complications within a multidisciplinary centre Cécile Delorme , Marion Houot , Charlotte Rosso , Stéphanie Carvalho , Thomas Nedelec , et al. Brain Communications, 2021, 3 (3), ⟨10.1093/braincomms/fcab135⟩ Article dans une revue hal-03464402v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Unusual association of an unique CAG interruption in 5’ of DM1 CTG repeats with intergenerational contraction and low somatic mosaicism Stéphanie Tomé , Elodie Dandelot , Céline Guiraud-Dogan , Alexis Bertrand , David Geneviève , et al. International Conference on Unstable Microsatellites and Human Disease, Apr 2018, Capri, Italy Poster de conférence hal-04010176v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Hearing impairment in patients with myotonic dystrophy type 2 Judith van Vliet , Alide Tieleman , Baziel G.M. van Engelen , Guillaume Bassez , Laurent Servais , et al. Neurology, 2018, 90 (7), pp.e615-e622. ⟨10.1212/WNL.0000000000004963⟩ Article dans une revue hal-03875067v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy Abdallah Fayssoil , Lee S Nguyen , Tanya Stojkovic , Helene Prigent , Robert Carlier , et al. Muscle & nerve. Supplement., 2022, 65 (1), pp.89-95. ⟨10.1002/mus.27432⟩ Article dans une revue hal-03521139v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		[Management of muscle and nerve biopsies: expert guidelines from two French professional societies, Société française de myologie et de l'Association française contre les myopathies] : Prise en charge des biopsies musculaires et nerveuses. Recommandations formalisées d'experts sous l'égide de la Société française de neuropathologie, de la Société française de myologie et de l'Association française contre les myopathies E. Uro-Soste , C. Fernandez , François-Jérôme Authier , G. Bassez , C. Butori , et al. Revue Neurologique, 2010, 166 (5), pp.477-85. ⟨10.1016/j.neurol.2010.03.015⟩ Article dans une revue hal-00629866v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin's disease: a case series Alain Furby , Anthony Behin , Jean-Pascal Le Faucheur , Katell Beauvais , Pascale Marcorelles , et al. Journal of Neurology, Neurosurgery and Psychiatry, 2009, 81 (1), pp.101. ⟨10.1136/jnnp.2008.167577⟩ Article dans une revue istex hal-00552743v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice Arnaud F Klein , Miguel A Varela , Ludovic Arandel , Ashling Holland , Naira Naouar , et al. Journal of Clinical Investigation, 2019, 129 (11), pp.4739 - 4744. ⟨10.1172/jci128205⟩ Article dans une revue hal-03753531v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy Daniël van As , Kees Okkersen , Guillaume Bassez , Benedikt Schoser , Hanns Lochmüller , et al. Journal of Neuromuscular Diseases, 2021, 8 (6), pp.1031 - 1046. ⟨10.3233/jnd-210634⟩ Article dans une revue hal-03463099v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1 Caroline Chong-Nguyen , Karim Wahbi , Vincent Algalarrondo , Henri Marc Bécane , Hélène Radvanyi-Hoffman , et al. Circulation: Cardiovascular Genetics, 2017, 10 (3), ⟨10.1161/CIRCGENETICS.116.001526⟩ Article dans une revue hal-03830988v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Sparse classification with MRI based markers for neuromuscular disease categorization Katerina Gkirtzou , Jean-François Deux , Guillaume Bassez , Aristeidis Sotiras , Alain Rahmouni , et al. 4th International Workhop on Machine Learning in Medical Imaging, Sep 2013, Nagoya, Japan Communication dans un congrès hal-00845126v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Author response: A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management Emmanuelle Lagrue , Guillaume Bassez Neurology, 2020, 94 (3), pp.146-146. ⟨10.1212/WNL.0000000000008825⟩ Article dans une revue hal-03875201v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in Becker muscular dystrophy Caroline Stalens , Leslie Motté , Anthony Béhin , Rabah Ben Yaou , France Leturcq , et al. Journal of Neuromuscular Diseases, 2021, 8 (4), pp.495 - 502. ⟨10.3233/jnd-200620⟩ Article dans une revue hal-03464423v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		In vivo and in vitro functional characterization of Andersen's syndrome mutations. Saïd Bendahhou , Emmanuel Fournier , Damien Sternberg , Guillaume Bassez , Alain Furby , et al. The Journal of Physiology, 2005, 565 (Pt 3), pp.731-41. ⟨10.1113/jphysiol.2004.081620⟩ Article dans une revue hal-00272219v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1 Stephan Wenninger , Sarah Cumming , Kristina Gutschmidt , Kees Okkersen , Aura Cecilia Jimenez-Moreno , et al. Neurology Genetics, 2021, 7 (2), pp.e572. ⟨10.1212/NXG.0000000000000572⟩ Article dans une revue hal-03875210v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences Chantal Sellier , Estefanía Cerro-Herreros , Markus Blatter , Fernande Freyermuth , Angeline Gaucherot , et al. Nature Communications, 2018, 9 (1), ⟨10.1038/s41467-018-04370-x⟩ Article dans une revue hal-03339515v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour. Oscar Hernández-Hernández , Céline Guiraud-Dogan , Géraldine Sicot , Aline Huguet , Sabrina Luilier , et al. Brain - A Journal of Neurology , 2013, 136 (Pt 3), pp.957-70. ⟨10.1093/brain/aws367⟩ Article dans une revue inserm-00795195v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

High Risk of Fatal and Nonfatal Venous Thromboembolism in Myotonic Dystrophy

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing.

Scapular dyskinesis in myotonic dystrophy type 1: clinical characteristics and genetic investigations

Recherche pharmacologique et cellules souches pluripotentes : du paradigme expérimental novateur à l’essai clinique fructueux

Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood

The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing

Genetic determinants of disease severity in the myotonic dystrophy type 1 OPTIMISTIC cohort

Consensus-based care recommendations for adults with myotonic dystrophy type 2

A Heterozygous Mutation in the Filamin C Gene Causes an Unusual Nemaline Myopathy With Ring Fibers

THE QUALITY OF LIFE IN GENETIC NEUROMUSCULAR DISEASE QUESTIONNAIRE: RASCH VALIDATION OF THE FRENCH VERSION

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing

Satellite cells attract monocytes and use macrophages as a support to escape apoptosis and enhance muscle growth

Atteintes rétiniennes dans la DM1 : revue de la littérature et présentation d’un projet basé sur DM-Scope

The wide spectrum of COVID-19 neuropsychiatric complications within a multidisciplinary centre

Unusual association of an unique CAG interruption in 5’ of DM1 CTG repeats with intergenerational contraction and low somatic mosaicism

Hearing impairment in patients with myotonic dystrophy type 2

Determinants of diaphragm inspiratory motion, diaphragm thickening, and its performance for predicting respiratory restrictive pattern in Duchenne muscular dystrophy

Late-onset cervicoscapular muscle atrophy and weakness after radiotherapy for Hodgkin's disease: a case series

Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice

Clinical Outcome Evaluations and CBT Response Prediction in Myotonic Dystrophy

Association Between Mutation Size and Cardiac Involvement in Myotonic Dystrophy Type 1

Sparse classification with MRI based markers for neuromuscular disease categorization

Author response: A large multicenter study of pediatric myotonic dystrophy type 1 for evidence-based management

Improved cardiac outcomes by early treatment with angiotensin-converting enzyme inhibitors in Becker muscular dystrophy

In vivo and in vitro functional characterization of Andersen's syndrome mutations.

Associations Between Variant Repeat Interruptions and Clinical Outcomes in Myotonic Dystrophy Type 1

rbFOX1/MBNL1 competition for CCUG RNA repeats binding contributes to myotonic dystrophy type 1/type 2 differences

Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.