Tan et al., 2006 - Google Patents
Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late‐onset Parkinson's diseaseTan et al., 2006
- Document ID
- 11095895217367272426
- Author
- Tan E
- Skipper L
- Chua E
- Wong M
- Pavanni R
- Bonnard C
- Kolatkar P
- Liu J
- Publication year
- Publication venue
- Movement disorders: official journal of the Movement Disorder Society
External Links
Snippet
The pleomorphic pathology of postmortem LRRK2‐positive patients and the frequent association with late‐onset Parkinson's disease (LOPD) symptoms suggest that LRRK2 mutations may play a role in Parkinson's Plus disorders and LOPD. Published studies …
- 230000035772 mutation 0 title abstract description 78
Classifications
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N33/00—Investigating or analysing materials by specific methods not covered by the preceding groups
- G01N33/48—Investigating or analysing materials by specific methods not covered by the preceding groups biological material, e.g. blood, urine; Haemocytometers
- G01N33/50—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing
- G01N33/68—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids
- G01N33/6893—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving proteins, peptides or amino acids related to diseases not provided for elsewhere
- G01N33/6896—Neurological disorders, e.g. Alzheimer's disease
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q1/00—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions
- C12Q1/68—Measuring or testing processes involving enzymes, nucleic acids or micro-organisms; Compositions therefor; Processes of preparing such compositions involving nucleic acids
- C12Q1/6876—Hybridisation probes
- C12Q1/6883—Hybridisation probes for diseases caused by alterations of genetic material
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/156—Polymorphic or mutational markers
-
- G—PHYSICS
- G01—MEASURING; TESTING
- G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
- G01N2800/00—Detection or diagnosis of diseases
- G01N2800/28—Neurological disorders
- G01N2800/2814—Dementia; Cognitive disorders
- G01N2800/2821—Alzheimer
-
- C—CHEMISTRY; METALLURGY
- C12—BIOCHEMISTRY; BEER; SPIRITS; WINE; VINEGAR; MICROBIOLOGY; ENZYMOLOGY; MUTATION OR GENETIC ENGINEERING
- C12Q—MEASURING OR TESTING PROCESSES INVOLVING ENZYMES OR MICRO-ORGANISMS; COMPOSITIONS OR TEST PAPERS THEREFOR; PROCESSES OF PREPARING SUCH COMPOSITIONS; CONDITION RESPONSIVE CONTROL IN MICROBIOLOGICAL OR ENZYMOLOGICAL PROCESSES
- C12Q2600/00—Oligonucleotides characterized by their use
- C12Q2600/172—Haplotypes
Similar Documents
Publication | Publication Date | Title |
---|---|---|
Tan et al. | Analysis of 14 LRRK2 mutations in Parkinson's plus syndromes and late‐onset Parkinson's disease | |
Raghavan et al. | Whole‐exome sequencing in 20,197 persons for rare variants in Alzheimer's disease | |
Lill et al. | The role of TREM2 R47H as a risk factor for Alzheimer's disease, frontotemporal lobar degeneration, amyotrophic lateral sclerosis, and Parkinson's disease | |
Hakonen et al. | Mitochondrial DNA polymerase W748S mutation: a common cause of autosomal recessive ataxia with ancient European origin | |
Kumar et al. | Genetics of Parkinson disease and other movement disorders | |
Skipper et al. | Linkage disequilibrium and association of MAPT H1 in Parkinson disease | |
Wang et al. | TGM6 identified as a novel causative gene of spinocerebellar ataxias using exome sequencing | |
Deng et al. | Genetics of essential tremor | |
Krohn et al. | Fine‐mapping of SNCA in rapid eye movement sleep behavior disorder and overt Synucleinopathies | |
Yan et al. | Frameshift and novel mutations in FUS in familial amyotrophic lateral sclerosis and ALS/dementia | |
Xiao et al. | Novel THAP1 sequence variants in primary dystonia | |
Gustavsson et al. | DNAJC13 genetic variants in parkinsonism | |
Berg et al. | Alpha‐synuclein and Parkinson's disease: implications from the screening of more than 1,900 patients | |
Dupré et al. | Clinical and genetic study of autosomal recessive cerebellar ataxia type 1 | |
Zech et al. | DYT16 revisited: exome sequencing identifies PRKRA mutations in a European dystonia family | |
Sweet et al. | Catechol-O-methyltransferase haplotypes are associated with psychosis in Alzheimer disease | |
Lee et al. | PRRT2 mutations in paroxysmal kinesigenic dyskinesia with infantile convulsions in a Taiwanese cohort | |
Tan et al. | CAG repeat expansion in THAP11 is associated with a novel spinocerebellar ataxia | |
Conidi et al. | Homozygous carriers of APP A713T mutation in an autosomal dominant Alzheimer disease family | |
Li et al. | PRRT 2 c. 649dup C Mutation Derived from De Novo in Paroxysmal Kinesigenic Dyskinesia | |
Dezfouli et al. | PANK2 and C19orf12 mutations are common causes of neurodegeneration with brain iron accumulation | |
Lake et al. | Coding and noncoding variation in LRRK2 and Parkinson's disease risk | |
Hammer et al. | Exome sequencing: an efficient diagnostic tool for complex neurodegenerative disorders | |
Novak et al. | An ITPR1 gene deletion causes spinocerebellar ataxia 15/16: a genetic, clinical and radiological description | |
Nuytemans et al. | Absence of C9ORF72 expanded or intermediate repeats in autopsy‐confirmed Parkinson's disease |