Literature DB >> 26703368

A Novel Nonsense Mutation in DNAJC6 Expands the Phenotype of Autosomal-Recessive Juvenile-Onset Parkinson's Disease.

Liena Elbaghir Omer Elsayed1,2,3, Valérie Drouet1, Tatiana Usenko1, Inaam N Mohammed3, Ahlam AbdAlrahman Ahmed Hamed3, Maha Abdelmoneim Elseed3, Mustafa A M Salih4, Mahmoud Eltayeb Koko5, Ashraf Yahia Osman Mohamed6, Rayan Abubaker Siddig7, Mustafa Idris Elbashir3, Muntaser Eltayeb Ibrahim5, Alexandra Durr1,8, Giovanni Stevanin1,2,8, Suzanne Lesage1, Ammar Eltahir Ahmed3, Alexis Brice1,8.   

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Year:  2016        PMID： 26703368     DOI： 10.1002/ana.24591

Source DB:  PubMed          Journal:  Ann Neurol        ISSN： 0364-5134            Impact factor:   10.422


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  23 in total

1.  Truncating biallelic variant in DNAJA1, encoding the co-chaperone Hsp40, is associated with intellectual disability and seizures.

Authors:  Saud Alsahli; Ahmed Alfares; Francisco J Guzmán-Vega; Stefan T Arold; Duaa Ba-Armah; Fuad Al Mutairi
Journal:  Neurogenetics       Date:  2019-04-10       Impact factor: 2.660

2.  Variable PARK2 Mutations Cause Early-Onset Parkinson's Disease in a Small Restricted Population.

Authors:  Shay Ben-Shachar; Zaid Afawi; Rafik Masalha; Samih Badarny; Tova Neiman; Dina Pavzner; Anat Bar-Shira; Avi Orr-Urtreger
Journal:  J Mol Neurosci       Date:  2017-09-15       Impact factor: 3.444

Review 3.  Coatopathies: Genetic Disorders of Protein Coats.

Authors:  Esteban C Dell'Angelica; Juan S Bonifacino
Journal:  Annu Rev Cell Dev Biol       Date:  2019-08-09       Impact factor: 13.827

Review 4.  Nosology and Phenomenology of Psychosis in Movement Disorders.

Authors:  Malco Rossi; Nicole Farcy; Sergio E Starkstein; Marcelo Merello
Journal:  Mov Disord Clin Pract       Date:  2020-01-07

Review 5.  DNAJC proteins and pathways to parkinsonism.

Authors:  Dorien A Roosen; Cornelis Blauwendraat; Mark R Cookson; Patrick A Lewis
Journal:  FEBS J       Date:  2019-06-20       Impact factor: 5.622

Review 6.  LRRK2 at the interface of autophagosomes, endosomes and lysosomes.

Authors:  Dorien A Roosen; Mark R Cookson
Journal:  Mol Neurodegener       Date:  2016-12-07       Impact factor: 14.195

Review 7.  DnaJ/Hsp40 Family and Parkinson's Disease.

Authors:  Takafumi Hasegawa; Shun Yoshida; Naoto Sugeno; Junpei Kobayashi; Masashi Aoki
Journal:  Front Neurosci       Date:  2018-01-10       Impact factor: 4.677

Review 8.  New Genes Causing Hereditary Parkinson's Disease or Parkinsonism.

Authors:  Andreas Puschmann
Journal:  Curr Neurol Neurosci Rep       Date:  2017-09       Impact factor: 5.081

Review 9.  The Role of Co-chaperones in Synaptic Proteostasis and Neurodegenerative Disease.

Authors:  Erica L Gorenberg; Sreeganga S Chandra
Journal:  Front Neurosci       Date:  2017-05-19       Impact factor: 4.677

Review 10.  DNAJ Proteins in neurodegeneration: essential and protective factors.

Authors:  Christina Zarouchlioti; David A Parfitt; Wenwen Li; Lauren M Gittings; Michael E Cheetham
Journal:  Philos Trans R Soc Lond B Biol Sci       Date:  2018-01-19       Impact factor: 6.237
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