Literature DB >> 35586532

Dystonia and Optic Neuropathy: Expanded Phenotype of Dynactin 1 Related Neurodegeneration.

Sahil Mehta1, Abeer Goel1, Deependra Singh1, Sucharita Ray1, Basavaraj Tigari2, Aastha Takkar1, Vivek Lal1.   

Abstract

Entities:  

Keywords:  axonal transport; dynactin; dystonia; neurodegeneration; optic neuropathy

Year:  2022        PMID： 35586532      PMCID： PMC9092729          DOI： 10.1002/mdc3.13424

Source DB:  PubMed          Journal:  Mov Disord Clin Pract        ISSN： 2330-1619


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  12 in total

1.  Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.

Authors:  C Münch; R Sedlmeier; T Meyer; V Homberg; A D Sperfeld; A Kurt; J Prudlo; G Peraus; C O Hanemann; G Stumm; A C Ludolph
Journal:  Neurology       Date:  2004-08-24       Impact factor: 9.910

Review 2.  Dynactin.

Authors:  Trina A Schroer
Journal:  Annu Rev Cell Dev Biol       Date:  2004       Impact factor: 13.827

Review 3.  Intraocular tuberculosis--an update.

Authors:  Vishali Gupta; Amod Gupta; Narsing A Rao
Journal:  Surv Ophthalmol       Date:  2007 Nov-Dec       Impact factor: 6.048

Review 4.  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

5.  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

6.  Distal hereditary motor neuropathy type 7B with Dynactin 1 mutation.

Authors:  Sun Hee Hwang; Eun Ja Kim; Young Bin Hong; Jaesoon Joo; Sung Min Kim; Soo Hyun Nam; Hyun Dae Hong; Seung Hyun Kim; Kiwook Oh; Jeong-Geun Lim; Jeong Hee Cho; Ki Wha Chung; Byung-Ok Choi
Journal:  Mol Med Rep       Date:  2016-08-22       Impact factor: 2.952

7.  DCTN1 mutation analysis in families with progressive supranuclear palsy-like phenotypes.

Authors:  Paola Caroppo; Isabelle Le Ber; Fabienne Clot; Sophie Rivaud-Péchoux; Agnès Camuzat; Anne De Septenville; Claire Boutoleau-Bretonnière; Vanessa Mourlon; Mathilde Sauvée; Thibaud Lebouvier; Anne-Marie Bonnet; Richard Levy; Martine Vercelletto; Alexis Brice
Journal:  JAMA Neurol       Date:  2014-02       Impact factor: 18.302

Review 8.  Axonal transport deficits and neurodegenerative diseases.

Authors:  Stéphanie Millecamps; Jean-Pierre Julien
Journal:  Nat Rev Neurosci       Date:  2013-01-30       Impact factor: 34.870

9.  DCTN1 mutations in Perry syndrome.

Authors:  Matthew J Farrer; Mary M Hulihan; Jennifer M Kachergus; Justus C Dächsel; A Jon Stoessl; Linda L Grantier; Susan Calne; Donald B Calne; Bernard Lechevalier; Francoise Chapon; Yoshio Tsuboi; Tatsuo Yamada; Ludwig Gutmann; Bülent Elibol; Kailash P Bhatia; Christian Wider; Carles Vilariño-Güell; Owen A Ross; Laura A Brown; Monica Castanedes-Casey; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Nat Genet       Date:  2009-01-11       Impact factor: 38.330

10.  dnc-1/dynactin 1 knockdown disrupts transport of autophagosomes and induces motor neuron degeneration.

Authors:  Kensuke Ikenaka; Kaori Kawai; Masahisa Katsuno; Zhe Huang; Yue-Mei Jiang; Yohei Iguchi; Kyogo Kobayashi; Tsubasa Kimata; Masahiro Waza; Fumiaki Tanaka; Ikue Mori; Gen Sobue
Journal:  PLoS One       Date:  2013-02-07       Impact factor: 3.240
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