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

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

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http://www.wikidata.org/entity/Q37325058
Therapeutic Developments for Tics and Myoclonus.SORT1 Mutation Resulting in Sortilin Deficiency and p75(NTR) Upregulation in a Family With Essential Tremor.SCN4A pore mutation pathogenetically contributes to autosomal dominant essential tremor and may increase susceptibility to epilepsy.A Novel p.Glu298Lys Mutation in the ACMSD Gene in Sporadic Parkinson's Disease.Genetic Determinants of Parkinson's Disease: Can They Help to Stratify the Patients Based on the Underlying Molecular Defect?Autosomal dominant cortical tremor, myoclonus, and epilepsy (ADCME) in a unique south Indian community.Whole-exome sequencing associates novel CSMD1 gene mutations with familial Parkinson diseaseIs the Enzyme ACMSD a Novel Therapeutic Target in Parkinson's Disease?Seeding of proteins into amyloid structures by metabolite assemblies may clarify certain unexplained epidemiological associations.Familial Cortical Myoclonic Tremor and Epilepsy, an Enigmatic Disorder: From Phenotypes to Pathophysiology and Genetics. A Systematic Review.Fine mapping and whole-exome sequencing of a familial cortical myoclonic tremor with epilepsy family.The role of the cerebellum in the pathogenesis of cortical myoclonus
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The ACMSD gene, involved in tryptophan metabolism, is mutated in a family with cortical myoclonus, epilepsy, and parkinsonism.

Item
http://www.wikidata.org/entity/Q37325058
description
article científic
@ca
article scientifique
@fr
articolo scientifico
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artigo científico
@pt
bilimsel makale
@tr
scientific article published on 20 August 2013
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The ACMSD gene, involved in tr ...... s, epilepsy, and parkinsonism.
@en
The ACMSD gene, involved in tr ...... s, epilepsy, and parkinsonism.
@nl
type
label
The ACMSD gene, involved in tr ...... s, epilepsy, and parkinsonism.
@en
The ACMSD gene, involved in tr ...... s, epilepsy, and parkinsonism.
@nl
prefLabel
The ACMSD gene, involved in tr ...... s, epilepsy, and parkinsonism.
@en
The ACMSD gene, involved in tr ...... s, epilepsy, and parkinsonism.
@nl
P1433
P1476
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932
P356
P1433
P1476
The ACMSD gene, involved in tr ...... us, epilepsy, and parkinsonism
@en
P2093
P2860
P2888
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P921
P932