Literature DB >> 35895135

DCTN1 mutation associated parkinsonism: case series of three new families with perry syndrome.

Thomas B Stoker1, Vaclav Dostal2, Jeffrey Cochius2, Caroline H Williams-Gray3, Clemens R Scherzer4,5, Junhao Wang6, Ganqiang Liu6, Ian Coyle-Gilchrist2.   

Abstract

Entities:  

Year:  2022        PMID： 35895135     DOI： 10.1007/s00415-022-11308-3

Source DB:  PubMed          Journal:  J Neurol        ISSN： 0340-5354            Impact factor:   6.682


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  15 in total

1.  Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.

Authors:  Christoph Münch; Angela Rosenbohm; Anne-Dorte Sperfeld; Ingo Uttner; Sven Reske; Bernd J Krause; Reinhard Sedlmeier; Thomas Meyer; Clemens O Hanemann; Gabriele Stumm; Albert C Ludolph
Journal:  Ann Neurol       Date:  2005-11       Impact factor: 10.422

Review 2.  DCTN1-related neurodegeneration: Perry syndrome and beyond.

Authors:  Takuya Konno; Owen A Ross; Hélio A G Teive; Jarosław Sławek; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2017-06-12       Impact factor: 4.891

3.  Perry Syndrome: A Distinctive Type of TDP-43 Proteinopathy.

Authors:  Takayasu Mishima; Shunsuke Koga; Wen-Lang Lin; Koji Kasanuki; Monica Castanedes-Casey; Zbigniew K Wszolek; Shin J Oh; Yoshio Tsuboi; Dennis W Dickson
Journal:  J Neuropathol Exp Neurol       Date:  2017-08-01       Impact factor: 3.685

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

Authors:  Jingfei Zhang; Hong Wang; Wenjie Liu; Juan Wang; Jing Zhang; Xueli Chang; Shan Huang; Xiaomin Pang; Junhong Guo; Qiuhong Wang; Wei Zhang
Journal:  Neurol Sci       Date:  2021-01-14       Impact factor: 3.307

5.  Pallidonigral TDP-43 pathology in Perry syndrome.

Authors:  Christian Wider; Dennis W Dickson; A Jon Stoessl; Yoshio Tsuboi; Françoise Chapon; Ludwig Gutmann; Bernard Lechevalier; Donald B Calne; David A Personett; Mary Hulihan; Jennifer Kachergus; Rosa Rademakers; Matthew C Baker; Linda L Grantier; O K Sujith; Laura Brown; Susan Calne; Matthew J Farrer; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2008-08-23       Impact factor: 4.891

6.  Determinants of delayed diagnosis in Parkinson's disease.

Authors:  David P Breen; Jonathan R Evans; Krista Farrell; Carol Brayne; Roger A Barker
Journal:  J Neurol       Date:  2013-04-10       Impact factor: 4.849

7.  The CamPaIGN study of Parkinson's disease: 10-year outlook in an incident population-based cohort.

Authors:  Caroline H Williams-Gray; Sarah L Mason; Jonathan R Evans; Thomas Foltynie; Carol Brayne; Trevor W Robbins; Roger A Barker
Journal:  J Neurol Neurosurg Psychiatry       Date:  2013-06-18       Impact factor: 10.154

8.  Perry syndrome with progressive supranuclear palsy-like phenotype in a Portuguese family - Long-term clinical follow-up.

Authors:  Rui Duarte Barreto; Rita Rodrigues; José Mário Roriz; Isabel Alonso; Marina Magalhães
Journal:  Parkinsonism Relat Disord       Date:  2021-02-05       Impact factor: 4.891

9.  Establishing diagnostic criteria for Perry syndrome.

Authors:  Takayasu Mishima; Shinsuke Fujioka; Hiroyuki Tomiyama; Ichiro Yabe; Ryoichi Kurisaki; Naoki Fujii; Ryuji Neshige; Owen A Ross; Matthew J Farrer; Dennis W Dickson; Zbigniew K Wszolek; Nobutaka Hattori; Yoshio Tsuboi
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-10-31       Impact factor: 10.154

Review 10.  Clinical, pathological and genetic characteristics of Perry disease-new cases and literature review.

Authors:  Jarosław Dulski; Catalina Cerquera-Cleves; Lukasz Milanowski; Alexa Kidd; Emilia J Sitek; Audrey Strongosky; Ana María Vanegas Monroy; Dennis W Dickson; Owen A Ross; Jolanta Pentela-Nowicka; Jarosław Sławek; Zbigniew K Wszolek
Journal:  Eur J Neurol       Date:  2021-08-26       Impact factor: 6.288
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