Recherche - Archive ouverte HAL

53 résultats

	Pour les 53 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

		Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials Jordi Diaz-Manera , Roberto Fernandez-Torron , Jaume Llauger , Meredith K James , Anna Mayhew , et al. Journal of Neurology, Neurosurgery and Psychiatry, 2018, 89 (10), pp.1071-1081. ⟨10.1136/jnnp-2017-317488⟩ Article dans une revue hal-01922699v1	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
		Combined quantification of fatty infiltration, T 1-relaxation times and T 2-relaxation times in normal-appearing skeletal muscle of controls and dystrophic patients Benjamin Leporq , Arnaud Le Troter , Yann Le Fur , Emmanuelle Salort-Campana , Maxime Guye , et al. Magnetic Resonance Materials in Physics, Biology and Medicine, 2017, 30 (4), pp.407 - 415. ⟨10.1007/s10334-017-0616-1⟩ Article dans une revue hal-01611586v1*	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody Yves Allenbach , Jeremy Keraen , Anne-Marie Bouvier , Valérie Jooste , Nicolas Champtiaux , et al. Brain - A Journal of Neurology , 2016, 139 (8), pp.2131 - 2135. ⟨10.1093/brain/aww054⟩ Article dans une revue hal-01409979v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy Natacha Broucqsault , Julia Morere , Marie-Cécile Gaillard , Julie Dumonceaux , Julia Torrents , et al. Human Molecular Genetics, 2013, 22 (20), pp.4206 - 4214. ⟨10.1093/hmg/ddt272⟩ Article dans une revue hal-01662672v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis Océane Landon-Cardinal , Diane Friedman , Marguerite Guiguet , Pascal Laforet , Nicholas Heming , et al. Journal of Neuromuscular Diseases, 2018, 5 (2), pp.241-249. ⟨10.3233/JND-180300⟩ Article dans une revue hal-02377514v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing Mathieu Cerino , Svetlana Gorokhova , Pascal Laforet , Rabah Ben Yaou , Emmanuelle Salort-Campana , et al. Muscle & Nerve, 2017, 56, pp.993-997. ⟨10.1002/mus.25638⟩ Article dans une revue hal-01741741v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Volume measurements of individual muscles in human quadriceps femoris using atlas-based segmentation approaches Arnaud Le Troter , Alexandre Fouré , Maxime Guye , Sylviane Confort-Gouny , Jean-Pierre Mattei , et al. Magma (New York, N.Y.), 2016, 29 (2), pp.245--257. ⟨10.1007/s10334-016-0535-6⟩ Article dans une revue hal-01425522v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism Stéphane Roche , Camille Dion , Natacha Broucqsault , Camille Laberthonnière , Marie-Cécile Gaillard , et al. Neurology Genetics, 2019, 5 (6), pp.e372. ⟨10.1212/NXG.0000000000000372⟩ Article dans une revue hal-02406985v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases]. M Humbertclaude , D. Hamroun , M. Picot , B Bezzou , C. Bérard , et al. Revue Neurologique, 2013, 169 (8-9), pp.583 - 594. ⟨10.1016/j.neurol.2013.04.004⟩ Article dans une revue hal-01681803v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Refining NGS diagnosis of muscular disorders Mathieu Cerino , Emmanuelle Salort-Campana , Svetlana Gorokhova , Amandine Sevy , Nathalie Bonello-Palot , et al. Journal of Neurology, Neurosurgery and Psychiatry, 2020, jnnp-2018-319254. ⟨10.1136/jnnp-2018-319254⟩ Article dans une revue hal-02959292v1	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 MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study Farzad Fatehi , Emmanuelle Salort Campana , Arnaud Le Troter , Emilie Lareau-Trudel , Mark Bydder , et al. PLoS ONE, 2017, 12 (8), pp.e0183825. ⟨10.1371/journal.pone.0183825⟩ Article dans une revue hal-01657958v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		FAM111B Mutation is associated with pancreatic cancer predisposition. Sandra Mercier , Sébastien Küry , Sophie Nahon , Emmanuelle Salort-Campana , Sébastien Barbarot , et al. Pancreas, 2019, 48 (5), pp.e41-e42. ⟨10.1097/MPA.0000000000001303⟩ Article dans une revue hal-02627713v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Novel CAPN3 variant associated with an autosomal dominant calpainopathy Mathieu Cerino , Emmanuelle Salort-Campana , Alexandra Salvi , P Cintas , D. Renard , et al. Neuropathology and Applied Neurobiology, 2020, ⟨10.1111/nan.12624⟩ Article dans une revue hal-02901906v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing Amandine Sevy , Mathieu Cerino , Svetlana Gorokhova , Eugénie Dionnet , Yves Mathieu , et al. Journal of Neurology, Neurosurgery and Psychiatry, 2016, 87 (3), pp.340-U116. ⟨10.1136/jnnp-2014-309663⟩ Article dans une revue hal-01469052v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study Emmanuelle Salort Campana , Karine Nguyen , Rafaelle Bernard , Elisabeth Jouve , Guilhem Solé , et al. Orphanet Journal of Rare Diseases, 2015, 10, pp.2. ⟨10.1186/s13023-014-0218-1⟩ Article dans une revue hal-01610016v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing Martin Krahn , Valérie Biancalana , Mathieu Cerino , Aurélien Perrin , Laurence Michel-Calemard , et al. European Journal of Human Genetics, 2019, 27 (3), pp.349-352. ⟨10.1038/s41431-018-0305-1⟩ Article dans une revue hal-02434896v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Functional impact of vibratory proprioceptive assistance in patients with facioscapulohumeral muscular dystrophy Edith Ribot-Ciscar , Virginie Milhe-de Bovis , Jean-Marc Aimonetti , Bernard Lapeyssonnie , Emmanuelle Campana-Salort , et al. Muscle & Nerve, 2015, 52 (5), pp.780-787. ⟨10.1002/mus.24605⟩ Article dans une revue istex hal-01435170v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		An atlas based automatic segmentation of the human thigh muscles: a promising approach for muscle volume quantification in longitudinal studies Arnaud Le Troter , Alexandre Fouré , Maxime Guye , Sylviane Confort-Gouny , Jean-Pierre Mattei , et al. Annual European Congress of Rheumatology, Jun 2016, Londres, United Kingdom Communication dans un congrès hal-04077122v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease Ursula Moore , Heather Gordish , Jordi Diaz-Manera , Meredith K James , Anna G Mayhew , et al. Neuromuscular Disorders, 2021, ⟨10.1016/j.nmd.2021.01.009⟩ Article dans une revue hal-03148942v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires Aurélien Perrin , Philippe Latour , Vincent Procaccio , Claude Jardel , Mathieu Cerino , et al. Médecine/Sciences, 2018, 34 (Hors-série 2), pp.20-22. ⟨10.1051/medsci/201834s206⟩ Article dans une revue hal-01938567v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		MOTOR UNIT NUMBER INDEX CORRELATES WITH DISABILITY IN CHARCOT-MRI FAT FRACTION OF TIBIALIS ANTERIOR MUSCLE CORRELATES WITH DISABILITY IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A J. Bas , E. Delmont , A. Le Troter , F. Fatehi , Emmanuelle Salort-Campana , et al. Journal of the Peripheral Nervous System, 2017, 22 (3), pp.241 Article dans une revue hal-01741721v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy Karine Nguyen , Francesca Puppo , Stéphane Roche , Marie-Cécile Gaillard , Charlene Chaix , et al. Human Mutation, 2017, 38 (10), pp.1432 - 1441. ⟨10.1002/humu.23304⟩ Article dans une revue hal-01614514v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Towards national homogenization of analyses by NGS in the diagnostic approach for myopathies Martin Krahn , Mathieu Cerino , Emmanuelle Salort-Campana , Mireille Cossee Médecine/Sciences, 2017, 33 (SI), pp.30-33. ⟨10.1051/medsci/201733s106⟩ Article dans une revue hal-01741729v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		A national French consensus on gene lists for NGS-based diagnosis of myopathies Martin Krahn , V. Biancalana , L. Michel-Calemard , J. Nectoux , F. Leturcq , et al. Neuromuscular Disorders, 2017, 27 (2), pp.S196. ⟨10.1016/j.nmd.2017.06.370⟩ Article dans une revue hal-01741737v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Segregation between a frameshift SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy Marie-Cécile Gaillard , Francesca Puppo , Stéphane Roche , Camille Dion , Emmanuelle Salort-Campana , et al. 13e Journée de la Société Française de Myologie, Nov 2015, Lyon, France. , 2015 Poster de conférence hal-01688694v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation Juliette Bacquet , Tanya Stojkovic , Amandine Boyer , Nathalie Martini , Frédérique Audic , et al. BMJ Open, 2018, 8 (10), pp.e021632. ⟨10.1136/bmjopen-2018-021632⟩ Article dans une revue hal-01984168v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Detection of proximal conduction blocks using a triple stimulation technique improves the early diagnosis of Guillain-Barre syndrome Amandine Sevy , Aude-Marie Grapperon , Emmanuelle Salort-Campana , Emilien Delmont , Shahram Attarian Clinical Neurophysiology, 2018, 129 (1), pp.127-132 Article dans une revue hal-02000333v1	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 MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: a quantitative study Emmanuelle Salort-Campana , Farzad Fatehi , Arnaud Le Troter , Emilie Lareau-Trudel , Mark Bydder , et al. Imaging in Neuromuscular Disease (Myo-MRI 2017), Nov 2017, Berlin, Germany Poster de conférence hal-04077644v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More
		Combination of a fat volume fraction quantification method with a dedicated automatic segmentation algorithm for simultaneous measurement of infiltrated fatty tissue fraction and muscle relaxation times B. Leporq , A. Le Troter , Y. Le Fur , Emmanuelle Campana-Salort , P.J. Cozzone , et al. 21th Annual meeting of the ISMRM, Apr 2013, Salt Lake City, United States. pp.4040 Communication dans un congrès hal-00847753v1	Envoyer sur ORCID Exporter BibTeX XML-TEI Dublin Core DC Terms EndNote DataCite Export avancé Partager Gmail Facebook X LinkedIn More

Filtrer vos résultats

Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials

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

Combined quantification of fatty infiltration, T 1-relaxation times and T 2*-relaxation times in normal-appearing skeletal muscle of controls and dystrophic patients

High risk of cancer in autoimmune necrotizing myopathies: usefulness of myositis specific antibody

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Efficacy of Rituximab in Refractory Generalized anti-AChR Myasthenia Gravis

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Volume measurements of individual muscles in human quadriceps femoris using atlas-based segmentation approaches

Methylation hotspots evidenced by deep sequencing in patients with facioscapulohumeral dystrophy and mosaicism

[Phenotypic heterogeneity and phenotype-genotype correlations in dystrophinopathies: Contribution of genetic and clinical databases].

Refining NGS diagnosis of muscular disorders

Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: A quantitative study

FAM111B Mutation is associated with pancreatic cancer predisposition.

Novel CAPN3 variant associated with an autosomal dominant calpainopathy

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

A National French consensus on gene lists for the diagnosis of myopathies using next-generation sequencing

Functional impact of vibratory proprioceptive assistance in patients with facioscapulohumeral muscular dystrophy

An atlas based automatic segmentation of the human thigh muscles: a promising approach for muscle volume quantification in longitudinal studies

Miyoshi myopathy and limb girdle muscular dystrophy R2 are the same disease

Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires

MOTOR UNIT NUMBER INDEX CORRELATES WITH DISABILITY IN CHARCOT-MRI FAT FRACTION OF TIBIALIS ANTERIOR MUSCLE CORRELATES WITH DISABILITY IN CHARCOT-MARIE-TOOTH DISEASE TYPE 1A

Molecular combing reveals complex 4q35 rearrangements in Facioscapulohumeral dystrophy

Towards national homogenization of analyses by NGS in the diagnostic approach for myopathies

A national French consensus on gene lists for NGS-based diagnosis of myopathies

Segregation between a frameshift SMCHD1 mutation, D4Z4 hypomethylation and Facio-Scapulo-Humeral Dystrophy

Molecular diagnosis of inherited peripheral neuropathies by targeted next-generation sequencing: molecular spectrum delineation

Detection of proximal conduction blocks using a triple stimulation technique improves the early diagnosis of Guillain-Barre syndrome

Long-term follow-up of MRI changes in thigh muscles of patients with Facioscapulohumeral dystrophy: a quantitative study

Combination of a fat volume fraction quantification method with a dedicated automatic segmentation algorithm for simultaneous measurement of infiltrated fatty tissue fraction and muscle relaxation times