Literature DB >> 15774457

A case of late onset sporadic Parkinson's disease with an A53T mutation in alpha-synuclein.

A W Michell, R A Barker, S K Raha, R Raha-Chowdhury.   

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Year:  2005        PMID： 15774457      PMCID： PMC1739583          DOI： 10.1136/jnnp.2004.046425

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


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  13 in total

Review 1.  The heterozygous A53T mutation in the alpha-synuclein gene in a Chinese Han patient with Parkinson disease: case report and literature review.

Authors:  Wei-Xi Xiong; Yi-Min Sun; Rong-Yuan Guan; Su-Shan Luo; Chen Chen; Yu An; Jian Wang; Jian-Jun Wu
Journal:  J Neurol       Date:  2016-07-08       Impact factor: 4.849

2.  A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.

Authors:  Andreas Puschmann; Owen A Ross; Carles Vilariño-Güell; Sarah J Lincoln; Jennifer M Kachergus; Stephanie A Cobb; Suzanne G Lindquist; Jørgen E Nielsen; Zbigniew K Wszolek; Matthew Farrer; Håkan Widner; Danielle van Westen; Douglas Hägerström; Katerina Markopoulou; Bruce A Chase; Karin Nilsson; Jan Reimer; Christer Nilsson
Journal:  Parkinsonism Relat Disord       Date:  2009-07-25       Impact factor: 4.891

Review 3.  Insights into the Molecular Mechanisms of Alzheimer's and Parkinson's Diseases with Molecular Simulations: Understanding the Roles of Artificial and Pathological Missense Mutations in Intrinsically Disordered Proteins Related to Pathology.

Authors:  Orkid Coskuner-Weber; Vladimir N Uversky
Journal:  Int J Mol Sci       Date:  2018-01-24       Impact factor: 5.923

Review 4.  α-Synuclein and Parkinsonism: Updates and Future Perspectives.

Authors:  Kaie Rosborough; Neha Patel; Lorraine V Kalia
Journal:  Curr Neurol Neurosci Rep       Date:  2017-04       Impact factor: 5.081

Review 5.  Recent advances in α-synuclein functions, advanced glycation, and toxicity: implications for Parkinson's disease.

Authors:  Erika Guerrero; P Vasudevaraju; Muralidhar L Hegde; G B Britton; K S Rao
Journal:  Mol Neurobiol       Date:  2012-08-26       Impact factor: 5.590

Review 6.  A53T in a parkinsonian family: a clinical update of the SNCA phenotypes.

Authors:  Nicola Tambasco; Pasquale Nigro; Michele Romoli; Paolo Prontera; Simone Simoni; Paolo Calabresi
Journal:  J Neural Transm (Vienna)       Date:  2016-06-01       Impact factor: 3.575

Review 7.  Advances in the Genetics of Parkinson's Disease: A Guide for the Clinician.

Authors:  Una-Marie Sheerin; Henry Houlden; Nicholas W Wood
Journal:  Mov Disord Clin Pract       Date:  2014-04-10

Review 8.  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

9.  α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?

Authors:  Aoife P Kiely; Yasmine T Asi; Eleanna Kara; Patricia Limousin; Helen Ling; Patrick Lewis; Christos Proukakis; Niall Quinn; Andrew J Lees; John Hardy; Tamas Revesz; Henry Houlden; Janice L Holton
Journal:  Acta Neuropathol       Date:  2013-02-12       Impact factor: 17.088

10.  Rapamycin improves motor function, reduces 4-hydroxynonenal adducted protein in brain, and attenuates synaptic injury in a mouse model of synucleinopathy.

Authors:  Xiang Bai; Margaret Chia-Ying Wey; Elizabeth Fernandez; Matthew J Hart; Jonathan Gelfond; Alex F Bokov; Sheela Rani; Randy Strong
Journal:  Pathobiol Aging Age Relat Dis       Date:  2015-08-24
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