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
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
First family with Perry syndrome from Mexico.
Flores-Lagunes L et al.
Biomedical Reports, 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
DCTN1 mutation associated parkinsonism: case series of three new families with perry syndrome.
Stoker TB et al.
Journal of Neurology, 2022
L-Dopa response, choreic dyskinesia, and dystonia in Perry syndrome.
Dulski J 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
Neuropathology of Perry Syndrome: Evidence of Medullary and Hypothalamic Involvement.
Kim DD et al.
Movement Disorders Clinical Practice, 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
Genetics of Progressive Supranuclear Palsy: A Review.
Wen Y et al.
Journal of Parkinson's Disease, 2021
DCTN1 mutation analysis in Italian patients with PSP, MSA, and DLB.
Procopio R et al.
Neurobiology of Aging, 2020
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
New phenotype of DCTN1-related spectrum: early-onset dHMN plus congenital foot deformity.
Tian WT et al.
Annals of Clinical and Translational Neurology, 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
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
Reduced TDP-43 Expression Improves Neuronal Activities in a Drosophila Model of Perry Syndrome.
Hosaka Y et al.
Ebiomedicine, 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
Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies.
Tey S et al.
Clinical Genetics, 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
P150glued-associated disorders are caused by activation of intrinsic apoptotic pathway.
Ishikawa K et al.
Plos One, 2014
The genetics of Parkinson's disease: progress and therapeutic implications.
Singleton AB et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2013
Dynactin is required for transport initiation from the distal axon.
Moughamian AJ et al.
Neuron, 2012
Disease-associated mutations in the p150(Glued) subunit destabilize the CAP-gly domain.
Ahmed S et al.
Biochemistry, 2010
[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
Four novel mutations in the GCH1 gene of Chinese patients with dopa-responsive dystonia.
Cao L et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
Perry syndrome due to the DCTN1 G71R mutation: a distinctive levodopa responsive disorder with behavioral syndrome, vertical gaze palsy, and respiratory failure.
Newsway V et al.
Movement Disorders : Official Journal of the Movement Disorder Society, 2010
DCTN1 mutations are implicated in multiple neurodegenerative disorders.
Uribe V
Clinical Genetics, 2010
Dynactin mutations and promises for neurodegenerative pathology.
Stein RA
Clinical Genetics, 2009