Related Concept Videos
Articles linked to this work by shared authors, journal, and citation graph.
Biallelic variants in PPP1R13L cause paediatric dilated cardiomyopathy.
Clinical genetics·2020
NaV1.7 gain-of-function mutations as a continuum: A1632E displays physiological changes associated with erythromelalgia and paroxysmal extreme pain disorder mutations and produces symptoms of both disorders.
The Journal of neuroscience : the official journal of the Society for Neuroscience·2008
Characterization of a neocentric supernumerary marker chromosome originating from the Xp distal region by FISH, CENP-C staining, and array CGH.
Cytogenetic and genome research·2007
Manifestations and treatment of Schimke immuno-osseous dysplasia: 14 new cases and a review of the literature.
European journal of pediatrics·2000
Coordinate induction of energy gene expression in tissues of mitochondrial disease patients.
The Journal of biological chemistry·1999
Multisite Anodal Direct Current Stimulation Preserves Motor Function and Modulates Key Cellular Pathways in TDP-43 and SOD1 Mouse Models of Amyotrophic Lateral Sclerosis.
Neuromodulation : journal of the International Neuromodulation Society·2026
Efficacy and Safety of Non-invasive Brain Stimulation in Non-migraine Primary Headache Disorders: A Systematic Review and Meta-analysis.
Annals of Indian Academy of Neurology·2026
Blood-brain barrier opening with focused ultrasound reduces neuromelanin in a non-human primate model.
Brain : a journal of neurology·2026
Recommendations for the diagnosis and management of neurofibromatosis type 1 in Singapore: A Delphi consensus.
Annals of the Academy of Medicine, Singapore·2026
Defining the Clinical Phenotypic Ground Truth: Expert Interrater Agreement in Hyperkinetic Movement Disorders.
Movement disorders clinical practice·2026