Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.K68E
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DCTN1

NM_004082.5:p.K68E

Associated Papers

Current advances in the clinical management of Perry syndrome: is there hope for the future?

Chmiela T et al.

Expert Review of Neurotherapeutics, 2026

First family with Perry syndrome from Mexico.

Flores-Lagunes L et al.

Biomedical Reports, 2024

38978535 (PubMed )
Supplement: Supplementary_Data2.pdf

Perry Disease: Expanding the Genetic Basis.

Dulski J et al.

Movement Disorders Clinical Practice, 2023

Deficiency of Perry syndrome-associated p150Glued in midbrain dopaminergic neurons leads to progressive neurodegeneration and endoplasmic reticulum abnormalities.

Yu J et al.

Npj Parkinson's Disease, 2023

Pallidal degenerations and related disorders: an update.

Jellinger KA

Journal of Neural Transmission (vienna, Austria : 1996), 2022

Selective expression of neurodegenerative diseases-related mutant p150Glued in midbrain dopaminergic neurons causes progressive degeneration of nigrostriatal pathway.

Yu J et al.

Ageing and Neurodegenerative Diseases, 2022

Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.

Dulski J et al.

European Journal of Neurology, 2021

Meta-iodobenzylguanidine myocardial scintigraphy in Perry disease.

Mishima T et al.

Parkinsonism & Related Disorders, 2021

Novel destabilizing Dynactin variant (DCTN1 p.Tyr78His) in patient with Perry syndrome.

Čierny M et al.

Parkinsonism & Related Disorders, 2020

The NGS technology for the identification of genes associated with the ALS. A systematic review.

Pecoraro V et al.

European Journal of Clinical Investigation, 2020

Comprehensive targeted next-generation sequencing in Japanese familial amyotrophic lateral sclerosis.

Nishiyama A et al.

Neurobiology of Aging, 2017

Perry syndrome: a disorder to consider in the differential diagnosis of Parkinsonism.

Aji BM et al.

Journal of the Neurological Sciences, 2013

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."