The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism

The causative role and therapeutic potential of the kynurenine pathway in neurodegenerative disease

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Exome Sequencing Identifies FUS Mutations as a Cause of Essential Tremor

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Familial Adult Myoclonic Epilepsy

(2012) Lynette G. Sadleir   ARCHIVES OF NEUROLOGY

A newly identified locus for benign adult familial myoclonic epilepsy on chromosome 3q26.32-3q28

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Identification of COL6A2 mutations in progressive myoclonus epilepsy syndrome

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Fronto-striatal dysfunction in type 3 familial cortical myoclonic tremor epilepsy occurring during aging

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Kynurenines in the CNS: recent advances and new questions

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Kynurenines in the mammalian brain: when physiology meets pathology

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Myb-Binding Protein 1A (MYBBP1A) Is Essential for Early Embryonic Development, Controls Cell Cycle and Mitosis, and Acts as a Tumor Suppressor

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The Use of Next-Generation Sequencing in Movement Disorders

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Genome-Wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population

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Performance of mutation pathogenicity prediction methods on missense variants

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Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies

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A proof-of-concept trial of the whey protein alfa-lactalbumin in chronic cortical myoclonus

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Familial cortical myoclonic tremor with epilepsy: The third locus (FCMTE3) maps to 5p

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Sudden death in Unverricht–Lundborg patients: is serotonin the key?

(2009) Pasquale Striano et al.   NEUROLOGICAL SCIENCES

The Excitotoxin Quinolinic Acid Induces Tau Phosphorylation in Human Neurons

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