Literature DB >> 11402119

Parkin gene causing benign autosomal recessive juvenile parkinsonism.

P Nisipeanu1, R Inzelberg, S Abo Mouch, R L Carasso, S C Blumen, J Zhang, H Matsumine, N Hattori, Y Mizuno.   

Abstract

Autosomal recessive juvenile parkinsonism (AR-JP) is an early-onset parkinsonism caused by exonic deletions or point mutations in the parkingene. The relationship between the type of the genetic defect and the clinical presentation, the response to therapy, and the evolution have not been yet determined. The authors describe a single-basepair deletion at nucleotide 202 in exon 2 of the parkin gene in a kindred with a benign clinical course.

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Year:  2001        PMID: 11402119     DOI: 10.1212/wnl.56.11.1573

Source DB:  PubMed          Journal:  Neurology        ISSN: 0028-3878            Impact factor:   9.910


  6 in total

Review 1.  Mitochondrial dynamics: the intersection of form and function.

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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.  Rare causes of dystonia parkinsonism.

Authors:  Susanne A Schneider; Kailash P Bhatia
Journal:  Curr Neurol Neurosci Rep       Date:  2010-11       Impact factor: 5.081

Review 4.  Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update.

Authors:  Karen Nuytemans; Jessie Theuns; Marc Cruts; Christine Van Broeckhoven
Journal:  Hum Mutat       Date:  2010-07       Impact factor: 4.878

5.  Analysis of neurodegenerative Mendelian genes in clinically diagnosed Alzheimer Disease.

Authors:  Maria Victoria Fernández; Jong Hun Kim; John P Budde; Kathleen Black; Alexandra Medvedeva; Ben Saef; Yuetiva Deming; Jorge Del-Aguila; Laura Ibañez; Umber Dube; Oscar Harari; Joanne Norton; Rachel Chasse; John C Morris; Alison Goate; Carlos Cruchaga
Journal:  PLoS Genet       Date:  2017-11-01       Impact factor: 5.917

6.  First-line exome sequencing in Palestinian and Israeli Arabs with neurological disorders is efficient and facilitates disease gene discovery.

Authors:  Holger Hengel; Rebecca Buchert; Marc Sturm; Tobias B Haack; Yvonne Schelling; Muhammad Mahajnah; Rajech Sharkia; Abdussalam Azem; Ghassan Balousha; Zaid Ghanem; Mohammed Falana; Osama Balousha; Suhail Ayesh; Reinhard Keimer; Werner Deigendesch; Jimmy Zaidan; Hiyam Marzouqa; Peter Bauer; Ludger Schöls
Journal:  Eur J Hum Genet       Date:  2020-03-25       Impact factor: 5.351

  6 in total

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