0000000000610552

AUTHOR

Rémi Bellance

showing 2 related works from this author

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional …

2016

International audience; BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and prognosis. Differences between males and females have not been specifically reported. Our aim is to study gender impact on DM1 phenotype and severity.METHODS: We first performed cross-sectional analysis of main multiorgan clinical parameters in 1409 adult DM1 patients (\textgreater18y) from the DM-Scope nationwide registry and obser…

Male0301 basic medicineDatabases FactualPhysiologyCross-sectional studyMyotonic dystrophylcsh:MedicineDiseasecomputer.software_genreinfo:eu-repo/classification/mesh/Socioeconomic FactorsLaryngologyinfo:eu-repo/classification/mesh/Myotonic Dystrophy/epidemiology*0302 clinical medicineMedicine and Health SciencesEthnicitiesMedicineinfo:eu-repo/classification/mesh/FemaleFrench Peoplelcsh:Scienceinfo:eu-repo/classification/mesh/Adulteducation.field_of_studyMultidisciplinaryinfo:eu-repo/classification/mesh/Factual*Death ratesDatabaseCognitive NeurologyMortality rateDysphagia3. Good healthPhenotypeCognitive impairmentNeurologyPhysiological ParametersFemaleinfo:eu-repo/classification/mesh/Databasesinfo:eu-repo/classification/mesh/MaleResearch ArticleAdultMaternal inheritanceCognitive NeurosciencePopulation[SDV.GEN.GH] Life Sciences [q-bio]/Genetics/Human geneticsMyotonic dystrophy03 medical and health sciencesPopulation MetricsAdultsHumansObesitySex DistributioneducationDemographyinfo:eu-repo/classification/mesh/Cross-Sectional StudiesPopulation BiologyCataractsbusiness.industrylcsh:RBody WeightBiology and Life Sciencesmedicine.diseaseMyotoniaThyroid disorderinfo:eu-repo/classification/mesh/Sex DistributionHealth CareOphthalmologyCross-Sectional Studies030104 developmental biologyOtorhinolaryngologySocioeconomic Factors[SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human geneticsAge Groups[SDV.SPEE] Life Sciences [q-bio]/Santé publique et épidémiologieLens DisordersPeople and Placesinfo:eu-repo/classification/mesh/Myotonic Dystrophy/mortalityCognitive Sciencelcsh:QPopulation Groupings[SDV.SPEE]Life Sciences [q-bio]/Santé publique et épidémiologieHealth StatisticsMorbidityAge of onsetbusinessinfo:eu-repo/classification/mesh/Phenotype*computerinfo:eu-repo/classification/mesh/Humans030217 neurology & neurosurgeryNeurosciencePLOS ONE
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Capacity building in clinical and molecular characterization of rare neurodegenerative diseases through the development of a local register and impro…

2020

Neurodegenerative diseases (NDs) are very polymorphic and affect people of all ages. They concern both rare diseases and more common diseases. Improving knowledge of NDs in the French Caribbean region requires special attention because of the unique environmental and genetic background of its populations. In Martinique, there is a huge need for scientific research on rare NDs. While epidemiological and clinical research has increased over the past decade in the French West Indies, there is still little or no data on the genetics of NDs in these regions. The advent of Next Generation Sequencing (NGS) on a global scale has the potential to make a difference in this field, provided that techno…

education.field_of_studybusiness.industryPopulationBiological databaseCapacity buildingGeneral MedicineBioinformaticsOutreachGeographyCaribbean regionHealth carebusinesseducationMartiniqueExome sequencingJournal of Global Health Reports
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