Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations
出版年份 2018 全文链接
标题
Isolated nigral degeneration without pathological protein aggregation in autopsied brains with LRRK2 p.R1441H homozygous and heterozygous mutations
作者
关键词
-
出版物
Acta Neuropathologica Communications
Volume 6, Issue 1, Pages -
出版商
Springer Nature America, Inc
发表日期
2018-10-17
DOI
10.1186/s40478-018-0617-y
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- The genetics of Parkinson disease
- (2018) Hao Deng et al. AGEING RESEARCH REVIEWS
- The emerging role of Rab GTPases in the pathogenesis of Parkinson's disease
- (2018) Yujing Gao et al. MOVEMENT DISORDERS
- Neuropathology of Parkinson disease
- (2018) Dennis W. Dickson PARKINSONISM & RELATED DISORDERS
- Neuropathology of genetic synucleinopathies with parkinsonism: Review of the literature
- (2017) Susanne A. Schneider et al. MOVEMENT DISORDERS
- Absence of Lewy pathology associated with PINK1 homozygous mutation
- (2016) Masashi Takanashi et al. NEUROLOGY
- Primary age-related tauopathy (PART): a common pathology associated with human aging
- (2014) John F. Crary et al. ACTA NEUROPATHOLOGICA
- Trimmomatic: a flexible trimmer for Illumina sequence data
- (2014) Anthony M. Bolger et al. BIOINFORMATICS
- Membrane recruitment of endogenous LRRK2 precedes its potent regulation of autophagy
- (2014) J. Schapansky et al. HUMAN MOLECULAR GENETICS
- PINK1-PARKIN Interplay: Down to Ubiquitin Phosphorylation
- (2014) Alexandra Stolz et al. MOLECULAR CELL
- G2019S LRRK2 mutant fibroblasts from Parkinson’s disease patients show increased sensitivity to neurotoxin 1-methyl-4-phenylpyridinium dependent of autophagy
- (2014) Sokhna M.S. Yakhine-Diop et al. TOXICOLOGY
- Spread of neuronal degeneration in a dopaminergic,Lrrk-G2019Smodel of Parkinson disease
- (2013) Samantha J. Hindle et al. Autophagy
- Inhibition of LRRK2 kinase activity stimulates macroautophagy
- (2013) Claudia Manzoni et al. BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH
- Parkinson disease phenotype in Ashkenazi jews with and withoutLRRK2G2019S mutations
- (2013) Roy N. Alcalay et al. MOVEMENT DISORDERS
- Parkin disease and the Lewy body conundrum
- (2013) Karen M. Doherty et al. MOVEMENT DISORDERS
- Interplay of LRRK2 with chaperone-mediated autophagy
- (2013) Samantha J Orenstein et al. NATURE NEUROSCIENCE
- Mutant LRRK2 Elicits Calcium Imbalance and Depletion of Dendritic Mitochondria in Neurons
- (2012) Salvatore J. Cherra et al. AMERICAN JOURNAL OF PATHOLOGY
- Loss of leucine-rich repeat kinase 2 causes age-dependent bi-phasic alterations of the autophagy pathway
- (2012) Youren Tong et al. Molecular Neurodegeneration
- LRRK2 protein levels are determined by kinase function and are crucial for kidney and lung homeostasis in mice
- (2011) Martin C. Herzig et al. HUMAN MOLECULAR GENETICS
- Dopaminergic Neuronal Loss, Reduced Neurite Complexity and Autophagic Abnormalities in Transgenic Mice Expressing G2019S Mutant LRRK2
- (2011) David Ramonet et al. PLoS One
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- GTPase Activity Plays a Key Role in the Pathobiology of LRRK2
- (2010) Yulan Xiong et al. PLoS Genetics
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- Neuropathology of Parkinson's disease with the R1441G mutation inLRRK2
- (2009) José-Félix Martí-Massó et al. MOVEMENT DISORDERS
- R1441C mutation in LRRK2 impairs dopaminergic neurotransmission in mice
- (2009) Y. Tong et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- LRRK2 Gly2019Ser penetrance in Arab–Berber patients from Tunisia: a case-control genetic study
- (2008) Mary M Hulihan et al. LANCET NEUROLOGY
- Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
- (2008) Daniel G Healy et al. LANCET NEUROLOGY
- Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
- (2008) K. Haugarvoll et al. NEUROLOGY
- Familial parkinsonism: Study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes
- (2008) Kazuko Hasegawa et al. PARKINSONISM & RELATED DISORDERS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now