Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease. - Wikidata - wikimedia - TriplyDB

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

http://www.wikidata.org/entity/Q34267681

about

ARHGEF7 (Beta-PIX) acts as guanine nucleotide exchange factor for leucine-rich repeat kinase 2 Deconvoluting the complexity of autophagy and Parkinson's disease for potential therapeutic purpose Heterogeneity of leucine-rich repeat kinase 2 mutations: genetics, mechanisms and therapeutic implications Is inhibition of kinase activity the only therapeutic strategy for LRRK2-associated Parkinson's disease?Genetics in Parkinson disease: Mendelian versus non-Mendelian inheritance Protective LRRK2 R1398H Variant Enhances GTPase and Wnt Signaling Activity.First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation Elevated levels of cerebrospinal fluid α-synuclein oligomers in healthy asymptomatic LRRK2 mutation carriers.Phosphorylation of 4E-BP1 in the mammalian brain is not altered by LRRK2 expression or pathogenic mutations.Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study.Genetic Screening of the Mitochondrial Rho GTPases MIRO1 and MIRO2 in Parkinson's Disease The genetics of Parkinson's disease: progress and therapeutic implications LRRK2 GTPase dysfunction in the pathogenesis of Parkinson's disease.Genetics of Parkinson disease and essential tremor LRRK2: cause, risk, and mechanism.Contribution of GTPase activity to LRRK2-associated Parkinson disease Increased Oxidative Stress Markers in Cerebrospinal Fluid from Healthy Subjects with Parkinson's Disease-Associated LRRK2 Gene Mutations.Heterozygous PINK1 p.G411S increases risk of Parkinson's disease via a dominant-negative mechanism.The GTPase function of LRRK2.Advances in the genetics of Parkinson disease.Targeting leucine-rich repeat kinase 2 in Parkinson's disease.Cellular processes associated with LRRK2 function and dysfunction Leucine-Rich Repeat Kinase (LRRK2) Genetics and Parkinson's Disease.GTP binding regulates cellular localization of Parkinson's disease-associated LRRK2.Serotonin and dopamine transporter PET changes in the premotor phase of LRRK2 parkinsonism: cross-sectional studies.Understanding the GTPase Activity of LRRK2: Regulation, Function, and Neurotoxicity.Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe.Parkinson's disease: leucine-rich repeat kinase 2 and autophagy, intimate enemies.Olfactory dysfunction in sporadic Parkinson's Disease and LRRK2 carriers.Familial aggregation of Parkinson's disease in the Faroe Islands.LRRK2 haplotype-sharing analysis in Parkinson's disease reveals a novel p.S1761R mutation.In Vitro Modeling of Leucine-Rich Repeat Kinase 2 (LRRK2) G2019S-Mediated Parkinson's Disease Pathology.Exploring cancer in LRRK2 mutation carriers and idiopathic Parkinson's disease.CSF Nrf2 and HSPA8 in Parkinson's disease patients with and without LRRK2 gene mutations.LRRK 2 gene mutations in the pathophysiology of the ROCO domain and therapeutic targets for Parkinson's disease: a review.

P2860

Q24305448-B09AD876-6450-4225-9E03-23F80E04D204 Q26785491-E0D06077-206B-41FC-8312-898E2FFF74D8 Q27013695-033C6B84-FE48-4911-A6E7-98F1089B0002 Q27026262-DB03F0ED-1F7E-43F5-BF96-45E04CC8175E Q28077356-46C7467F-AFDA-467A-BCE5-A633247D36A9 Q29347547-32BF3776-8902-4712-8C6B-78AE8E8814D1 Q30513503-02EE8604-AC19-40A2-AC1F-839886116220 Q34242682-23CB1934-945D-4D75-B3C9-F4EBDCCD87A8 Q34452296-ADC6DFA9-0354-4C97-BBEB-D842A9349E23 Q35525896-275825C5-EB5A-476C-B54D-71079CAE6A54 Q35878437-1DF7A0B3-CF4D-4126-9101-A73CFD5D3E6E Q36626825-EE1FF035-BA1E-47F5-BD37-17D99916622C Q36981223-01D62F05-3EEC-4EB0-A644-1B476669529D Q37594762-A65AC980-D434-4228-90B7-29AFDC9283F0 Q37635000-AFB52354-3190-43C8-A9CC-F4A37A44AEF5 Q37686991-E4D40BA1-C92E-4C0F-AC8A-D77D6567F635 Q37733717-F4CD7EF8-A224-456F-ADFA-E12F28AE15FC Q37736984-6F5BA625-800A-4E38-9721-0B5E3854A3DA Q38044433-CEFEEE65-8E8E-49BB-8AE0-E12C98A5D248 Q38121773-ADE0339E-C3DC-412A-9CE7-CA4E662580FA Q38160939-10A2365F-F14A-4511-9E7A-A2714F2BD3BA Q38433725-1D03791E-3326-4714-AF41-668EEF1E1D4D Q38738200-9FFB327C-640F-4ADC-8A9F-1236F6E6C24F Q38814476-40515482-3FB4-4BF5-91BF-88D98B6C4896 Q38881337-305658F1-AB33-4313-A4C2-0D1E34E4CF81 Q39206431-E1FF5305-E423-436A-9EF3-7473570A44D0 Q41849532-ADF46B6A-37D7-4019-9B6C-4F2557DEAD00 Q42324120-DF7DB005-C971-4275-97C9-19228B9BDDDE Q47797902-F78CDACD-95F5-45AD-8082-61B6131EEE6E Q48370351-DAB3A0D2-D52B-490D-9D9C-1470D175B6B4 Q53209404-ACCDE5AA-B82E-468C-B7AD-A0298C5E651F Q54984575-8EED67F9-A294-44F3-A820-8F8C28A666DE Q55014055-312A6BB8-6534-458C-886A-D676AAF66EE5 Q55037516-392CEE2D-9DE2-416A-AAF1-B3D5B67F25E7 Q55410950-A521D728-1B5B-4894-8243-B1A8C353C7C2

P2860

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

http://www.wikidata.org/entity/Q34267681

description

2010 nî lūn-bûn

@nan

2010 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած

@hyw

2010 թվականի հոտեմբերին հրատարակված գիտական հոդված

@hy

2010年の論文

@ja

2010年論文

@yue

2010年論文

@zh-hant

2010年論文

@zh-hk

2010年論文

@zh-mo

2010年論文

@zh-tw

2010年论文

@wuu

name

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

@ast

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

@en

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

@nl

type

label

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

@ast

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

@en

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

@nl

prefLabel

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

@ast

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

@en

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

@nl

P1433

Q34267681-5497B326-2E76-4C12-8628-8D5AE6C69E45

P1476

Q34267681-F0741085-9E87-4704-ACC4-DF67C2E36B9E

P2093

Q34267681-035E8737-7D3F-45B2-ABC6-361670BEE8EA

Q34267681-23CC96B5-D0F6-495C-98FD-79F9CD463034

Q34267681-396738B4-379A-4506-A86B-04A81FEF2A73

Q34267681-59A97047-77B9-449F-945A-D1C9DD384582

Q34267681-6CB72CF2-EB11-4B50-AAB6-2314126EC8B6

Q34267681-778C8382-DA5E-4F4D-8119-8A0E9E094A50

Q34267681-A222FF71-59EC-4D94-89AC-A96111D27442

Q34267681-A4B4EF63-6290-449B-85C6-463C144D3166

Q34267681-C74A6AEA-6187-45F2-B917-E83F94002E8E

Q34267681-D48A0DE7-1580-4E32-9C21-26384C8FB2D6

P2860

Q34267681-00EC9A7B-5EF8-4864-B206-71A7DCB34274

Q34267681-1DE7995E-A780-4538-A889-C125C2E2EAEB

Q34267681-2A164703-7AD7-4BD1-B121-2C1D1686AC44

Q34267681-42DF22A8-EEE4-448F-B424-CA4763215322

Q34267681-42E019C5-450A-4C7A-881D-7D867B184489

Q34267681-43A94440-A4F4-4868-A556-A0385B1BFCC0

Q34267681-4CF93957-F232-4D3F-AEE9-C06487F7E200

Q34267681-4EEA0D53-3AA1-4039-8A21-E11D51369FA5

Q34267681-646DF9D0-992F-4E82-B070-FDCAE8049C2B

Q34267681-6482C547-A1AD-42A4-A3AA-9F4DEEA1824A

P304

Q34267681-2B72ACB2-3A17-4D44-8BE2-9EC1E4106E28

P31

Q34267681-4E5FFC53-E4B0-4850-9851-21C5377E6AC1

P356

Q34267681-96FA314C-4026-42A3-8085-F60682021D76

P407

Q34267681-706D5688-41C6-4D1A-A68C-6BE22B44E713

P433

Q34267681-A2EFC0FF-1835-4A43-B311-1993E8E3A2FA

P478

Q34267681-C0CCE94C-0CAA-4786-8B85-61044ABE06AF

P50

Q34267681-0CA750BA-37E2-4C0F-ACB9-AEF23AB539C6

Q34267681-662B83F2-CB0C-4293-B8E7-0BB9016D9EA0

Q34267681-6E7C784F-5C3E-4E65-A388-0115D00AD60C

Q34267681-70F37574-D987-4A38-81BE-1186E4BB9D01

Q34267681-AE56DAC9-376E-4341-A29B-95775FD19DDE

P577

Q34267681-8EA511D7-D25C-476A-A957-F95F640A9BD9

P5875

Q34267681-57B3CF39-D074-44FD-A530-19329FDB2B4A

P698

Q34267681-52ECB5E9-0657-415F-86A9-20AA3B9359E4

P921

Q34267681-48F5732F-A39E-4501-8B05-63E785BC1F57

P932

Q34267681-A566724C-8DD3-4A3F-AAFD-39B631DA539D

P356

P1433

Movement Disorders

P1476

Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.

@en

P2093

Alexandra I Soto-Ortolaza

http://www.w3.org/2001/XMLSchema#string

Amela Felic

http://www.w3.org/2001/XMLSchema#string

Andrew B West

http://www.w3.org/2001/XMLSchema#string

Christian Wider

http://www.w3.org/2001/XMLSchema#string

Haydeh Payami

http://www.w3.org/2001/XMLSchema#string

Jan O Aasly

http://www.w3.org/2001/XMLSchema#string

Jennifer M Kachergus

http://www.w3.org/2001/XMLSchema#string

Justus C Dachsel

http://www.w3.org/2001/XMLSchema#string

Krisztina K Johansen

http://www.w3.org/2001/XMLSchema#string

Linda R White

http://www.w3.org/2001/XMLSchema#string

P2860

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

“Mini-mental state”

Structure of the ROC domain from the Parkinson's disease-associated leucine-rich repeat kinase 2 reveals a dimeric GTPase

LRRK2 in Parkinson's disease: protein domains and functional insights

Parkinsonism: onset, progression and mortality

Epidemiology of Parkinson's disease

Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study

The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study.

Progression of dopaminergic dysfunction in a LRRK2 kindred: a multitracer PET study.

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

P304

2156-2163

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1002/MDS.23265

http://www.w3.org/2001/XMLSchema#string

P407

P433

13

http://www.w3.org/2001/XMLSchema#string

P478

25

http://www.w3.org/2001/XMLSchema#string

P50

Carles Vilariño-Güell

Kristoffer Haugarvoll

P577

2010-10-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

45407643

http://www.w3.org/2001/XMLSchema#string

P698

20669305

http://www.w3.org/2001/XMLSchema#string

P921

Parkinson's disease

P932

2970614

http://www.w3.org/2001/XMLSchema#string