Literature DB >> 21656851

Clinical features, with video documentation, of the original familial lewy body parkinsonism caused by α-synuclein triplication (Iowa kindred).

Katrina Gwinn, Michael J Devine, Lee-Way Jin, Janel Johnson, Thomas Bird, Manfred Muenter, Cheryl Waters, Charles H Adler, Richard Caselli, Henry Houlden, Grisel Lopez, Amanda Singleton, John Hardy, Andrew Singleton.   

Abstract

Entities:  

Mesh：

Substances：

Year:  2011        PMID： 21656851      PMCID： PMC3170657          DOI： 10.1002/mds.23776

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


× No keyword cloud information.
  6 in total

1.  alpha-Synuclein locus triplication causes Parkinson's disease.

Authors:  A B Singleton; M Farrer; J Johnson; A Singleton; S Hague; J Kachergus; M Hulihan; T Peuralinna; A Dutra; R Nussbaum; S Lincoln; A Crawley; M Hanson; D Maraganore; C Adler; M R Cookson; M Muenter; M Baptista; D Miller; J Blancato; J Hardy; K Gwinn-Hardy
Journal:  Science       Date:  2003-10-31       Impact factor: 47.728

2.  Report of familial cases of parkinsonism. Evidence of a dominant trait in a patient's family.

Authors:  G G SPELLMAN
Journal:  JAMA       Date:  1962-02-03       Impact factor: 56.272

3.  Hereditary form of parkinsonism--dementia.

Authors:  M D Muenter; L S Forno; O Hornykiewicz; S J Kish; D M Maraganore; R J Caselli; H Okazaki; F M Howard; B J Snow; D B Calne
Journal:  Ann Neurol       Date:  1998-06       Impact factor: 10.422

4.  A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor.

Authors:  M Farrer; K Gwinn-Hardy; M Muenter; F W DeVrieze; R Crook; J Perez-Tur; S Lincoln; D Maraganore; C Adler; S Newman; K MacElwee; P McCarthy; C Miller; C Waters; J Hardy
Journal:  Hum Mol Genet       Date:  1999-01       Impact factor: 6.150

5.  Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p.

Authors:  K Gwinn-Hardy; N D Mehta; M Farrer; D Maraganore; M Muenter; S H Yen; J Hardy; D W Dickson
Journal:  Acta Neuropathol       Date:  2000-06       Impact factor: 17.088

6.  Autosomal dominant Lewy body parkinsonism in a four-generation family.

Authors:  C H Waters; C A Miller
Journal:  Ann Neurol       Date:  1994-01       Impact factor: 10.422
  6 in total
  18 in total

1.  MicroRNA expression patterns in human anterior cingulate and motor cortex: A study of dementia with Lewy bodies cases and controls.

Authors:  Peter T Nelson; Wang-Xia Wang; Sarah A Janse; Katherine L Thompson
Journal:  Brain Res       Date:  2017-11-13       Impact factor: 3.252

Review 2.  Parkinson's disease and α-synuclein expression.

Authors:  Michael J Devine; Katrina Gwinn; Andrew Singleton; John Hardy
Journal:  Mov Disord       Date:  2011-09-01       Impact factor: 10.338

3.  The Protein Complex of Neurodegeneration-related Phosphoinositide Phosphatase Sac3 and ArPIKfyve Binds the Lewy Body-associated Synphilin-1, Preventing Its Aggregation.

Authors:  Ognian C Ikonomov; Diego Sbrissa; Lauren M Compton; Rita Kumar; Ellen J Tisdale; Xuequn Chen; Assia Shisheva
Journal:  J Biol Chem       Date:  2015-09-24       Impact factor: 5.157

Review 4.  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

5.  Severely impaired hippocampal neurogenesis associates with an early serotonergic deficit in a BAC α-synuclein transgenic rat model of Parkinson's disease.

Authors:  Zacharias Kohl; Nada Ben Abdallah; Jonathan Vogelgsang; Lucas Tischer; Janina Deusser; Davide Amato; Scott Anderson; Christian P Müller; Olaf Riess; Eliezer Masliah; Silke Nuber; Jürgen Winkler
Journal:  Neurobiol Dis       Date:  2015-10-30       Impact factor: 5.996

Review 6.  The genetics and neuropathology of Parkinson's disease.

Authors:  Henry Houlden; Andrew B Singleton
Journal:  Acta Neuropathol       Date:  2012-07-18       Impact factor: 17.088

7.  A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.

Authors:  Eleanna Kara; Aoife P Kiely; Christos Proukakis; Nicola Giffin; Seth Love; Jason Hehir; Khadija Rantell; Amelie Pandraud; Dena G Hernandez; Elizabeth Nacheva; Alan M Pittman; Mike A Nalls; Andrew B Singleton; Tamas Revesz; Kailash P Bhatia; Niall Quinn; John Hardy; Janice L Holton; Henry Houlden
Journal:  JAMA Neurol       Date:  2014-09       Impact factor: 18.302

8.  NRF2 Loss Accentuates Parkinsonian Pathology and Behavioral Dysfunction in Human α-Synuclein Overexpressing Mice.

Authors:  Annadurai Anandhan; Nhat Nguyen; Arjun Syal; Luke A Dreher; Matthew Dodson; Donna D Zhang; Lalitha Madhavan
Journal:  Aging Dis       Date:  2021-07-01       Impact factor: 6.745

9.  Creation of an open-access, mutation-defined fibroblast resource for neurological disease research.

Authors:  Selina Wray; Matthew Self; Patrick A Lewis; Jan-Willem Taanman; Natalie S Ryan; Colin J Mahoney; Yuying Liang; Michael J Devine; Una-Marie Sheerin; Henry Houlden; Huw R Morris; Daniel Healy; Jose-Felix Marti-Masso; Elisavet Preza; Suzanne Barker; Margaret Sutherland; Roderick A Corriveau; Michael D'Andrea; Anthony H V Schapira; Ryan J Uitti; Mark Guttman; Grzegorz Opala; Barbara Jasinska-Myga; Andreas Puschmann; Christer Nilsson; Alberto J Espay; Jaroslaw Slawek; Ludwig Gutmann; Bradley F Boeve; Kevin Boylan; A Jon Stoessl; Owen A Ross; Nicholas J Maragakis; Jay Van Gerpen; Melissa Gerstenhaber; Katrina Gwinn; Ted M Dawson; Ole Isacson; Karen S Marder; Lorraine N Clark; Serge E Przedborski; Steven Finkbeiner; Jeffrey D Rothstein; Zbigniew K Wszolek; Martin N Rossor; John Hardy
Journal:  PLoS One       Date:  2012-08-27       Impact factor: 3.240

10.  α-Synuclein mutations cluster around a putative protein loop.

Authors:  Eleanna Kara; Patrick A Lewis; Helen Ling; Christos Proukakis; Henry Houlden; John Hardy
Journal:  Neurosci Lett       Date:  2013-05-10       Impact factor: 3.046
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.