KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
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74Institutions déclarées
12Pays d’affiliation déclarés
Résumé fourni par la source
related disease comprises an expanding continuum from infancy to adulthood, with early evidence of genotype-phenotype correlations. Except for laryngeal dysphonia, deep brain stimulation provides a significant improvement in quality of life and function with sustained clinical benefit depending on symptoms distribution.
Ce résumé expose les affirmations des auteurs. BNTIC ne l’interprète pas comme une validation indépendante des résultats.
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Institutions déclarées
Université de MontpellierHôpital Gui de ChauliacGuy's and St Thomas' NHS Foundation TrustKings Health PartnersEvelina London Children's HealthcareGreat Ormond Street HospitalUniversity College LondonInstitute of Structural and Molecular BiologyBirkbeck, University of LondonNHS Blood and TransplantUniversity of CambridgeCambridge University Hospitals NHS Foundation TrustCentre d’Etudes Politiques Et sociaLesRoyal Devon & Exeter NHS Foundation TrustStanford UniversityJohns Hopkins UniversityJohns Hopkins MedicineNational Institutes of HealthNational Institute of Neurological Disorders and StrokeHeidelberg UniversityUniversity Hospital HeidelbergNational Hospital for Neurology and NeurosurgeryCornell UniversityUniversity of ExeterHôpital Saint EloiSorbonne UniversitéHôpital Armand-TrousseauAssistance Publique – Hôpitaux de ParisFondation de RothschildChildren's Hospital of Eastern OntarioHôpital d'EnfantsHarvard UniversityMassachusetts General HospitalLucile Packard Children's HospitalWestern General HospitalUniversity of EdinburghMater Misericordiae University HospitalBrigham and Women's HospitalUniversity of California, Los AngelesChildren's Health Ireland at CrumlinOregon Health & Science UniversityNational Human Genome Research InstituteSapienza University of RomeHinchingbrooke HospitalInstitut Necker Enfants MaladesRadboud University NijmegenRadboud University Medical CenterThe University of SydneyGarvan Institute of Medical ResearchRoyal North Shore HospitalConcord Repatriation General HospitalHôpital Pierre WertheimerUniversity College DublinWestmead HospitalAarhus University HospitalSir Ganga Ram HospitalRandall Children's Hospital at Legacy EmanuelInsermCentre Hospitalier Universitaire de MontpellierInstitute for Neurosciences of MontpellierUniversity of California San DiegoRady Children's Hospital-San DiegoHôpitaux Universitaires de StrasbourgCairo University hospitalsKing's College HospitalBelfast Health and Social Care TrustAin Shams University HospitalChildren's Hospital at WestmeadBoston Children's HospitalChildren’s InstituteBrooke Army Medical CenterThe University of Texas at San Antonio Health Science CenterThe University of Texas Health Science Center at HoustonThe University of Texas Southwestern Medical Center
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Sujets associés
Neurological disorders and treatmentsGenomics and Rare DiseasesCongenital heart defects research