Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.Y78C
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DCTN1

NM_004082.5:p.Y78C

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

Characterization of the genetic and clinical landscapes of DCTN1 gene in neurodegenerative diseases: a series of large case-control study.

Hou X et al.

Npj Genomic Medicine, 2025

First family with Perry syndrome from Mexico.

Flores-Lagunes L et al.

Biomedical Reports, 2024

38978535 (PubMed )
Supplement: Supplementary_Data2.pdf

Wild-Type DCTN1 Suppresses the Aggregation of DCTN1 Mutants Associated with Perry Disease.

Fukui Y et al.

Biological & Pharmaceutical Bulletin, 2024

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

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

A novel Q93H missense mutation in DCTN1 caused distal hereditary motor neuropathy type 7B and Perry syndrome from a Chinese family.

Zhang J et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2021

Meta-iodobenzylguanidine myocardial scintigraphy in Perry disease.

Mishima T et al.

Parkinsonism & Related Disorders, 2021

Perry Disease: Concept of a New Disease and Clinical Diagnostic Criteria.

Tsuboi Y et al.

Journal of Movement Disorders, 2021

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

Čierny M et al.

Parkinsonism & Related Disorders, 2020

Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation: a response.

Tacik P et al.

The New Zealand Medical Journal, 2020

Perry syndrome: a case of atypical parkinsonism with confirmed DCTN1 mutation.

McManus EJ et al.

The New Zealand Medical Journal, 2020

Modeling Parkinson's Disease and Atypical Parkinsonian Syndromes Using Induced Pluripotent Stem Cells.

Mishima T et al.

International Journal of Molecular Sciences, 2018

DCTN1 F52L mutation case of Perry syndrome with progressive supranuclear palsy-like tauopathy.

Honda H et al.

Parkinsonism & Related Disorders, 2018

Establishing diagnostic criteria for Perry syndrome.

Mishima T et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2018

Behavioral defects in a DCTN1G71A transgenic mouse model of Perry syndrome.

Mishima T et al.

Neuroscience Letters, 2018

Reduced orexin immunoreactivity in Perry syndrome and multiple system atrophy.

Mishima T et al.

Parkinsonism & Related Disorders, 2017

DCTN1-related neurodegeneration: Perry syndrome and beyond.

Konno T et al.

Parkinsonism & Related Disorders, 2017

Cytoplasmic aggregates of dynactin in iPSC-derived tyrosine hydroxylase-positive neurons from a patient with Perry syndrome.

Mishima T et al.

Parkinsonism & Related Disorders, 2016

DCTN1 p.K56R in progressive supranuclear palsy.

Gustavsson EK et al.

Parkinsonism & Related Disorders, 2016

Three families with Perry syndrome from distinct parts of the world.

Tacik P et al.

Parkinsonism & Related Disorders, 2014

Expansion of the clinicopathological and mutational spectrum of Perry syndrome.

Chung EJ et al.

Parkinsonism & Related Disorders, 2014

[A case of brugada syndrome presenting with syncope transferred by ambulance to a neurosurgical hospital].

Sawamura A et al.

No Shinkei Geka. Neurological Surgery, 2010

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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."