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Paper Details

KMT2B-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation.
Brain
52
2020
BFMDRS, DYT28, KMT2B, KMT2B-related disease, KMT2B-related disorders, Marsden's Dystonia, cervical (, chromosomal deletions, complex dystonia, dystonia, dystonic neurodevelopmental, dystonicus, endocrinopathies, gait dystonia, genetic dystonia, intrauterine growth retardation, laryngeal dysphonia, laryngeal dystonia, missense variants, parkinsonism, patient, patients, systemic disease, trunk
Author NameAffiliation
Carolyn D ApplegateMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Emma L BapleClinical Genetics, Royal Devon and Exeter NHS Foundation Trust
Emma L BapleInstitute of Biomedical and Clinical Science RILD Wellcome Wolfson Centre, University of Exeter Medical School, Royal Devon and Exeter NHS Foundation Trust
Asif DojaChildren's Hospital of Eastern Ontario
David R FitzPatrickUniversity of Edinburgh Western General Hospital
William A GahlNational Human Genome Research Institute, National Institutes of Health
William A GahlNational Human Genome Research Institute, National Institutes of Health
Mark HallettNational Institute of Neurological Disorders and Stroke, National Institutes of Health
Susan J HayflickOregon Health and Science University
Susan J HayflickOregon Health and Science University
Ada HamoshMcKusick-Nathans Institute of Genetic Medicine, Johns Hopkins University School of Medicine
Suh Young JeongOregon Health and Science University
Joel B KrierBrigham and Women's Hospital, Harvard Medical School
Laila SelimCairo University Children Hospital
Ariane SoldatosNational Human Genome Research Institute, National Institutes of Health
Fiona Stewart
Bert B A de VriesDonders Institute for Brain, Radboud University Medical Center
Jennifer FriedmanRady Children's Hospital San Diego
Jennifer FriedmanUniversity of California San Diego
Jennifer FriedmanUniversity of California
Jennifer FriedmanRady Children's Institute for Genomic Medicine
Luis RohenaSan Antonio Military Medical Center
Luis RohenaLong School of Medicine
Camilo ToroNational Human Genome Research Institute, National Institutes of Health
Frances Lucy RaymondCambridge University Hospitals NHS Foundation Trust
Frances Lucy RaymondCambridge Institute for Medical Research, University of Cambridge
Maya TopfInstitute of Structural and Molecular Biology, Birkbeck College, University of London
Kathleen M GormanUCL Great Ormond Street Institute of Child Health
Kathleen M GormanGreat Ormond Street Hospital
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