Associated Papers
Genetics of familial adult myoclonus epilepsy: From linkage studies to noncoding repeat expansions.
Corbett MA et al.
Epilepsia, 2023
The role of monogenic genes in idiopathic Parkinson's disease.
Reed X et al.
Neurobiology of Disease, 2019
Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.
van den Ende T et al.
Tremor and Other Hyperkinetic Movements (new York, N.y.), 2018
A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.
Vilas D et al.
Journal of Parkinson's Disease, 2017
Is the Enzyme ACMSD a Novel Therapeutic Target in Parkinson's Disease?
Thirtamara-Rajamani K et al.
Journal of Parkinson's Disease, 2017
Rational search for genes in familial cortical myoclonic tremor with epilepsy, clues from recent advances.
Cen ZD et al.
Seizure, 2016
The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.
Martí-Massó JF et al.
Journal of Molecular Medicine (berlin, Germany), 2013
Genetic alterations affecting the genes encoding the enzymes of the kynurenine pathway and their association with human diseases.
Boros FA et al.
Mutation Research. Reviews in Mutation Research, 0
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