Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.G67D
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DCTN1

NM_004082.5:p.G67D

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

A systematic review and functional in-silico analysis of genes and variants associated with amyotrophic lateral sclerosis.

Arreola-Aldape CA et al.

Frontiers in Neuroscience, 2025

40589786 (PubMed )
Supplement: Table_4.xlsx › ClinVar_filtered_variants

First family with Perry syndrome from Mexico.

Flores-Lagunes L et al.

Biomedical Reports, 2024

Frequency of Hereditary and GBA1-Related Parkinsonism in Latin America: A Systematic Review and Meta-Analysis.

Saffie Awad P et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2024

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

Fukui Y et al.

Biological & Pharmaceutical Bulletin, 2024

Perry syndrome: Novel DCTN1 mutation in a large kindred and first observation of prodromal disease.

Dulski J et al.

Parkinsonism & Related Disorders, 2023

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

Perry disease in an Argentine family due to the DCTN1 p.G67D variant.

Silva E et al.

Parkinsonism & Related Disorders, 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

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

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

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

Aji BM et al.

Journal of the Neurological Sciences, 2013

[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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