LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease (Q36794416)

16 August 2017

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title

LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease (English)

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16 August 2017

1

Vincenzo Bonifati

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16 August 2017

18 April 2007

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16 August 2017

Neurochemical Research

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16 August 2017

32

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16 August 2017

1700-1708

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16 August 2017

10

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https://scigraph.springernature.com/pub.10.1007/s11064-007-9324-y

16 August 2017

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LRRK2 G2019S is a common mutation in Spanish patients with late-onset Parkinson's disease

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Mutations of the BRAF gene in human cancer

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Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism

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Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease

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Projected number of people with Parkinson disease in the most populous nations, 2005 through 2030.

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A common missense variant in the LRRK2 gene, Gly2385Arg, associated with Parkinson's disease risk in Taiwan

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Chronic systemic pesticide exposure reproduces features of Parkinson's disease

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Systemic exposure to proteasome inhibitors causes a progressive model of Parkinson's disease

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The LRRK2 Gly2385Arg variant is associated with Parkinson's disease: genetic and functional evidence.

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Identification and haplotype analysis of LRRK2 G2019S in Japanese patients with Parkinson disease

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Description of Parkinson's disease as a clinical syndrome.

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Kinase activity is required for the toxic effects of mutant LRRK2/dardarin

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Multiple regions of alpha-synuclein are associated with Parkinson's disease

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A common LRRK2 mutation in idiopathic Parkinson's disease

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LRRK2 G2019S mutation and Parkinson's disease: a clinical, neuropsychological and neuropsychiatric study in a large Italian sample

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G2019S LRRK2 mutation causing Parkinson's disease without Lewy bodies

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Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease

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The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

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The familial Parkinsonism gene LRRK2 regulates neurite process morphology

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Biochemical and pathological characterization of Lrrk2.

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LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews.

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The pleomorphic pathology of inherited Parkinson's disease: lessons from LRRK2

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Lrrk2 G2385R is an ancestral risk factor for Parkinson's disease in Asia

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Proteomic identification of a stress protein, mortalin/mthsp70/GRP75: relevance to Parkinson disease.

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Distribution of PINK1 and LRRK2 in rat and mouse brain

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LRRK2 mutations are a common cause of Parkinson's disease in Spain

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Leucine-rich repeat kinase 2 (LRRK2) mutations in a Swedish Parkinson cohort and a healthy nonagenarian

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LRRK2 G2019S in families with Parkinson disease who originated from Europe and the Middle East: evidence of two distinct founding events beginning two millennia ago.

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Lrrk2 pathogenic substitutions in Parkinson's disease

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alpha-Synuclein locus triplication causes Parkinson's disease

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LRRK2 haplotype analyses in European and North African families with Parkinson disease: a common founder for the G2019S mutation dating from the 13th century

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Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations

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Clinical features of LRRK2-associated Parkinson's disease in central Norway

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Parkinson's disease-associated mutations in LRRK2 link enhanced GTP-binding and kinase activities to neuronal toxicity

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12 December 2020

Molecular pathophysiology of Parkinson's disease

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Hereditary early-onset Parkinson's disease caused by mutations in PINK1

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Evaluation of LRRK2 G2019S penetrance: Relevance for genetic counseling in Parkinson disease

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Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics.

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Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration

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Anatomical localization of leucine-rich repeat kinase 2 in mouse brain.

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LRRK2G2019S as a Cause of Parkinson's Disease in North African Arabs

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Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity

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Clinical and positron emission tomography of Parkinson's disease caused by LRRK2.

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Impaired degradation of mutant alpha-synuclein by chaperone-mediated autophagy

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Striatal dopamine transporter binding in Parkinson's disease associated with the LRRK2 Gly2019Ser mutation.

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A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1.

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Analysis of LRRK2 G2019S and I2020T mutations in Parkinson's disease

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Clinicogenetic study of mutations inLRRK2 exon 41 in Parkinson's disease patients from 18 countries

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12 December 2020

A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan

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12 December 2020

R1514Q substitution in Lrrk2 is not a pathogenic Parkinson's disease mutation

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12 December 2020

GTP binding is essential to the protein kinase activity of LRRK2, a causative gene product for familial Parkinson's disease

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12 December 2020

Gene expression profiling of parkinsonian substantia nigra pars compacta; alterations in ubiquitin-proteasome, heat shock protein, iron and oxidative stress regulated proteins, cell adhesion/cellular matrix and vesicle trafficking genes

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12 December 2020

Kinase activity of mutant LRRK2 mediates neuronal toxicity

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12 December 2020

Whole genome expression profiling of the medial and lateral substantia nigra in Parkinson's disease.

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12 December 2020

Unraveling the pathogenesis of Parkinson's disease--the contribution of monogenic forms

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12 December 2020

G2019S LRRK2 mutation in French and North African families with Parkinson's disease

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12 December 2020

Parkinsonism, Lrrk2 G2019S, and tau neuropathology

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12 December 2020

The biochemistry of Parkinson's disease

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12 December 2020

LRRK2 mutations in Spanish patients with Parkinson disease: frequency, clinical features, and incomplete penetrance.

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12 December 2020

A clinic-based study of the LRRK2 gene in Parkinson disease yields new mutations

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German-Canadian family (family A) with parkinsonism, amyotrophy, and dementia - Longitudinal observations

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The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease

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12 December 2020

A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease.

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12 December 2020

Localization of LRRK2 to membranous and vesicular structures in mammalian brain

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12 December 2020

LRRK2 is expressed in areas affected by Parkinson's disease in the adult mouse brain.

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12 December 2020

Frequency of LRRK2 mutations in early- and late-onset Parkinson disease.

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12 December 2020

The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients.

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12 December 2020

G2019S LRRK2 mutation in familial and sporadic Parkinson's disease in Russia

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12 December 2020

The alpha-synucleinopathies: Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy.

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12 December 2020

Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology

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12 December 2020

LRRK1 protein kinase activity is stimulated upon binding of GTP to its Roc domain

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12 December 2020

Clinical features of Parkinson disease patients with homozygous leucine-rich repeat kinase 2 G2019S mutations.

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12 December 2020

Epidemiology of Parkinson's disease

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12 December 2020

G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort

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12 December 2020

An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family.

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12 December 2020

LRRK2 expression linked to dopamine-innervated areas.

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12 December 2020

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data

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12 December 2020

Roc, a Ras/GTPase domain in complex proteins

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12 December 2020

The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity

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12 December 2020

Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease

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12 December 2020

Parkinson's disease: mechanisms and models

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12 December 2020

Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease

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12 December 2020

10.1007/S11064-007-9324-Y

Identifiers

DOI

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16 August 2017

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PubMed ID

17440812