[go: up one dir, main page]
More Web Proxy on the site http://driver.im/

De Ridder et al., 2020 - Google Patents

Multisystem proteinopathy due to a homozygous p. Arg159His VCP mutation: A tale of the unexpected

De Ridder et al., 2020

View PDF
Document ID
10497919955377820866
Author
De Ridder W
Azmi A
Clemen C
Eichinger L
Hofmann A
Schröder R
Johnson K
Töpf A
Straub V
De Jonghe P
Maudsley S
De Bleecker J
Baets J
Publication year
Publication venue
Neurology

External Links

Snippet

Objective To assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the heterozygous state …
Continue reading at biblio.ugent.be (PDF) (other versions)

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
    • 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
    • G01N33/5005—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells
    • G01N33/5008—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics
    • G01N33/502—Chemical analysis of biological material, e.g. blood, urine; Testing involving biospecific ligand binding methods; Immunological testing involving human or animal cells for testing or evaluating the effect of chemical or biological compounds, e.g. drugs, cosmetics for testing non-proliferative effects
    • 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
    • G01N33/53—Immunoassay; Biospecific binding assay
    • G01N33/564—Immunoassay; Biospecific binding assay for pre-existing immune complex or autoimmune disease, i.e. systemic lupus erythematosus, rheumatoid arthritis, multiple sclerosis, rheumatoid factors or complement components C1-C9
    • 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
    • G01N2800/2835—Movement disorders, e.g. Parkinson, Huntington, Tourette
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2800/00—Detection or diagnosis of diseases
    • G01N2800/52—Predicting or monitoring the response to treatment; Prognosis
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2333/00—Assays involving biological materials from specific organisms or of a specific nature
    • G01N2333/90—Enzymes; Proenzymes
    • G—PHYSICS
    • G01—MEASURING; TESTING
    • G01N—INVESTIGATING OR ANALYSING MATERIALS BY DETERMINING THEIR CHEMICAL OR PHYSICAL PROPERTIES
    • G01N2500/00—Screening for compounds of potential therapeutic value
    • 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

Similar Documents

Publication Publication Date Title
Ceyhan-Birsoy et al. Recessive truncating titin gene, TTN, mutations presenting as centronuclear myopathy
Töpf et al. Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness
Hu et al. Reduced CSF p-Tau181 to Tau ratio is a biomarker for FTLD-TDP
Lv et al. Clinical lipidomics: a new way to diagnose human diseases
Jiang et al. Differential proteomic analysis of serum exosomes reveals alterations in progression of Parkinson disease
Dobson-Stone et al. C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts
Atkinson et al. Sphingosine 1-phosphate lyase deficiency causes Charcot-Marie-Tooth neuropathy
Mecozzi et al. Pharmacological chaperones stabilize retromer to limit APP processing
Synofzik et al. SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study
De Ridder et al. Multisystem proteinopathy due to a homozygous p. Arg159His VCP mutation: A tale of the unexpected
Wen et al. Identification of autism-related MECP2 mutations by whole-exome sequencing and functional validation
Wishart et al. SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy
Mondello et al. α-Synuclein in CSF of patients with severe traumatic brain injury
Zoltewicz et al. Characterization of antibodies that detect human GFAP after traumatic brain injury
Riva et al. Phosphorylated TDP-43 aggregates in peripheral motor nerves of patients with amyotrophic lateral sclerosis
Weisfeld-Adams et al. Differential diagnosis of Mendelian and mitochondrial disorders in patients with suspected multiple sclerosis
Posa et al. Recapitulation of pathological TDP-43 features in immortalized lymphocytes from sporadic ALS patients
Wang et al. Cerebrospinal fluid levels of YKL-40 in prodromal Alzheimer’s disease
Hayhurst et al. Leigh syndrome caused by mutations in MTFMT is associated with a better prognosis
Pisciotta et al. Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E
Unger et al. Expanding the phenotype of BICD2 mutations toward skeletal muscle involvement
Ikenaka et al. Increase of arginine dimethylation correlates with the progression and prognosis of ALS
Wilhite et al. Platelet phosphorylated TDP-43: an exploratory study for a peripheral surrogate biomarker development for Alzheimer's disease
McCreary et al. Development and validation of a targeted next-generation sequencing gene panel for children with neuroinflammation
Kino et al. FUS/TLS acts as an aggregation-dependent modifier of polyglutamine disease model mice