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「"van Broeckhoven C"[Author]」の検索結果

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Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment.

IPSC-Derived Neuronal Cultures Carrying the Alzheimer's Disease Associated R47H Variant Enables the Construction of an Aβ-Induced Gene Regulatory Network.

Reply: ATP10B and the risk for Parkinson's disease.

Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis.

Mutated ATP10B increases Parkinson's disease risk by compromising lysosomal glucosylceramide export.

International view on genetic frontotemporal dementia.

Role for ATXN1, ATXN2, and HTT intermediate repeats in frontotemporal dementia and Alzheimer's disease.

NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION.

Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum.

The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications.

Author Correction: Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates Aβ, tau, immunity and lipid processing.

Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy.

F-FDG PET, the early phases and the delivery rate of F-AV45 PET as proxies of cerebral blood flow in Alzheimer's disease: Validation against O-HO PET.

Novel Alzheimer's disease risk genes: exhaustive investigation is paramount.

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome.

Association of short-term cognitive decline and MCI-to-AD dementia conversion with CSF, MRI, amyloid- and F-FDG-PET imaging.

The role of ABCA7 in Alzheimer's disease: evidence from genomics, transcriptomics and methylomics.

Newest Methods for Detecting Structural Variations.

Validation of the Erlangen Score Algorithm for Differential Dementia Diagnosis in Autopsy-Confirmed Subjects.

Loss of DPP6 in neurodegenerative dementia: a genetic player in the dysfunction of neuronal excitability.

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