Literature DB >> 23283657

Young-onset parkinsonism due to homozygous duplication of α-synuclein in a consanguineous family.

Maja Kojovic, Una-Marie Sheerin, Ignacio Rubio-Agusti, Anirban Saha, Jose Bras, Vaneesha Gibbons, Rodger Palmer, Henry Houlden, John Hardy, Nicholas W Wood, Kailash P Bhatia.   

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Year:  2012        PMID： 23283657     DOI： 10.1002/mds.25199

Source DB:  PubMed          Journal:  Mov Disord        ISSN： 0885-3185            Impact factor:   10.338


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  11 in total

Review 1.  Autosomal dominant Parkinson's disease caused by SNCA duplications.

Authors:  Takuya Konno; Owen A Ross; Andreas Puschmann; Dennis W Dickson; Zbigniew K Wszolek
Journal:  Parkinsonism Relat Disord       Date:  2015-09-03       Impact factor: 4.891

Review 2.  Genetics of synucleins in neurodegenerative diseases.

Authors:  José Brás; Elizabeth Gibbons; Rita Guerreiro
Journal:  Acta Neuropathol       Date:  2020-08-01       Impact factor: 17.088

Review 3.  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 4.  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 5.  Multiple system atrophy: genetic risks and alpha-synuclein mutations.

Authors:  Heather T Whittaker; Yichen Qui; Conceição Bettencourt; Henry Houlden
Journal:  F1000Res       Date:  2017-11-30

Review 6.  Copy number variability in Parkinson's disease: assembling the puzzle through a systems biology approach.

Authors:  Valentina La Cognata; Giovanna Morello; Velia D'Agata; Sebastiano Cavallaro
Journal:  Hum Genet       Date:  2016-11-28       Impact factor: 4.132

Review 7.  Parkinson Disease from Mendelian Forms to Genetic Susceptibility: New Molecular Insights into the Neurodegeneration Process.

Authors:  Amin Karimi-Moghadam; Saeid Charsouei; Benjamin Bell; Mohammad Reza Jabalameli
Journal:  Cell Mol Neurobiol       Date:  2018-04-26       Impact factor: 5.046

8.  Four Copies of SNCA Responsible for Autosomal Dominant Parkinson's Disease in Two Italian Siblings.

Authors:  Rosangela Ferese; Nicola Modugno; Rosa Campopiano; Marco Santilli; Stefania Zampatti; Emiliano Giardina; Annamaria Nardone; Diana Postorivo; Francesco Fornai; Giuseppe Novelli; Edoardo Romoli; Stefano Ruggieri; Stefano Gambardella
Journal:  Parkinsons Dis       Date:  2015-11-09

Review 9.  Dementia with Lewy bodies: an update and outlook.

Authors:  Tiago Fleming Outeiro; David J Koss; Daniel Erskine; Lauren Walker; Marzena Kurzawa-Akanbi; David Burn; Paul Donaghy; Christopher Morris; John-Paul Taylor; Alan Thomas; Johannes Attems; Ian McKeith
Journal:  Mol Neurodegener       Date:  2019-01-21       Impact factor: 14.195

Review 10.  Genetic Risk Profiling in Parkinson's Disease and Utilizing Genetics to Gain Insight into Disease-Related Biological Pathways.

Authors:  Ashley Hall; Sara Bandres-Ciga; Monica Diez-Fairen; John P Quinn; Kimberley J Billingsley
Journal:  Int J Mol Sci       Date:  2020-10-04       Impact factor: 5.923
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