期刊： NEUROLOGY-GENETICS, 2022; 8 (2)
Background and Objectives Isolated paroxysmal kinesigenic dyskinesia (PKD) is mainly caused by PRRT2 variants and TMEM151A variants. Patients with pro......
期刊： NEUROLOGY-GENETICS, 2022; 8 (3)
Background and Objectives The natriuretic peptide (NP) system has been considered an important regulator for ischemic stroke (IS) with a limited clini......
期刊： NEUROLOGY-GENETICS, 2021; 7 (1)
Objective Genetic diagnosis and mutation identification are now compulsory for Duchenne (DMD) and Becker muscular dystrophies (BMD), which are due to ......
期刊： NEUROLOGY-GENETICS, 2021; 7 (1)
Amyotrophic lateral sclerosis (ALS) is characterized by degeneration of motor neurons in the brain, brainstem, and spinal cord, resulting in muscle at......
期刊： NEUROLOGY-GENETICS, 2020; 6 (4)
Objective To report novel causal mutations, expanded clinical phenotypes, and clinical management of DNA methyltransferase 1 (DNMT1)-complex disorder.......
期刊： NEUROLOGY-GENETICS, 2020; 6 (5)
Objective To highlight potential epigenetic risk factors for blood pressure (BP) and ischemic stroke (IS) in loci identified by genome-wide associatio......
期刊： NEUROLOGY-GENETICS, 2020; 6 (6)
Lafora disease (LD) is a teenage-onset fatal progressive myoclonus epilepsy caused by loss-of-function mutations in the EPM2A gene encoding the glycog......
期刊： NEUROLOGY-GENETICS, 2020; 6 (2)
ObjectiveTo describe clinical, biochemical, and genetic features of participants with mitochondrial diseases (MtDs) enrolled in the North American Mit......
期刊： NEUROLOGY-GENETICS, 2020; 6 (3)
ObjectiveTo investigate the pathogenicity of the TGM6 variant for spinocerebellar ataxia 35 (SCA35), which was previously reported to be caused by pat......
期刊： NEUROLOGY-GENETICS, 2020; 6 (1)
Objective To delineate the phenotypic and genotypic spectrum in carriers of mitochondrial MT-ATP6 mutations in a large international cohort. Methods W......
期刊： NEUROLOGY-GENETICS, 2020; 6 (1)
Objective To present the postmortem neuropathologic report of a patient with a CHCHD10 mutation exhibiting an amyotrophic lateral sclerosis (ALS) clin......
