Varaico: Literature-Extracted Genetic Variants

Gene:DCTN1
Variant:p.K56R
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DCTN1

NM_004082.5:p.K56R

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

Perry Disease: Bench to Bedside Circulation and a Team Approach.

Mishima T et al.

Biomedicines, 2024

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

Genetics of Multiple System Atrophy and Progressive Supranuclear Palsy: A Systemized Review of the Literature.

Bougea A

International Journal of Molecular Sciences, 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

Genetic and Epigenetic Constructs of Progressive Supranuclear Palsy.

Debnath M et al.

Annals of Neurosciences, 2022

An identical DCTN1 mutation in two Chinese siblings manifest as dHMN and ALS respectively: a case report.

He J et al.

Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration, 2022

Genotype-Phenotype Correlation in Progressive Supranuclear Palsy Syndromes: Clinical and Radiological Similarities and Specificities.

Ruiz-Barrio I et al.

Frontiers in Neurology, 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

The Genetic Landscape of Parkinsonism-Related Dystonias and Atypical Parkinsonism-Related Syndromes.

Diez-Fairen M et al.

International Journal of Molecular Sciences, 2021

Genotype-Phenotype Relations for the Atypical Parkinsonism Genes: MDSGene Systematic Review.

Wittke C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

34396589 (PubMed )
Supplement: NIHMS1796175-supplement-Supplementary_Material.docx

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

Tsuboi Y et al.

Journal of Movement Disorders, 2021

Genetics of Progressive Supranuclear Palsy: A Review.

Wen Y et al.

Journal of Parkinson's Disease, 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

Genetic analysis of Mendelian mutations in a large UK population-based Parkinson's disease study.

Tan MMX et al.

Brain : a Journal of Neurology, 2019

31324919 (PubMed )
Supplement: awz191_supplementary_data.pdf

Rare Tauopathies.

Ali F et al.

Seminars in Neurology, 2019

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

Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?

De Vos KJ et al.

Neurobiology of Disease, 2017

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

PBB3 imaging in Parkinsonian disorders: Evidence for binding to tau and other proteins.

Perez-Soriano A et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2017

DCTN1 p.K56R in progressive supranuclear palsy.

Gustavsson EK et al.

Parkinsonism & Related Disorders, 2016

[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."