Pathology - Research Publications
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Fast Principal Component Analysis of Large-Scale Genome-Wide Data
(PUBLIC LIBRARY SCIENCE, 2014)
Principal component analysis (PCA) is routinely used to analyze genome-wide single-nucleotide polymorphism (SNP) data, for detecting population structure and potential outliers. However, the size of SNP datasets has increased ...
Analysis of the regulatory and catalytic domains of PTEN-induced kinase-1 (PINK1)
(Wiley, 2012)
Mutations of the phosphatase and tensin homolog (PTEN)-induced kinase 1 (PINK1) gene can cause early-onset familial Parkinson disease (PD). PINK1 encodes a neuroprotective protein kinase localized at the mitochondria, and ...
Prediction of the repeat domain structures and impact of parkinsonism-associated variations on structure and function of all functional domains of Leucine-rich repeat kinase 2 (LRRK2)
(Wiley, 2014)
Genetic variations of leucine-rich repeat kinase 2 (LRRK2) are the major cause of dominantly inherited Parkinson disease (PD). LRRK2 protein contains seven predicted domains: a tandem Ras-like GTPase (ROC) domain and ...
Can we detect altered disease state in early stage Huntington’s Disease using acoustic markers of speech?
(Causal Productions, 2012)
Altered prosody has been described in symptomatic Huntington’s Disease (HD) individuals, however, the extent to which acoustic analysis of speech is sensitive to gene positive pre-manifest (PreHD) individuals is unknown. ...
Acoustic analysis of the effects of 24 hours of sustained wakefulness
(Causal Productions, 2010)
The effect of 24 hours of sustained wakefulness on the speech of healthy adults is poorly documented. Therefore, speech samples were systematically acquired (e.g., every four hours) from 18 healthy adults over 24 hours. ...
Dysphagia and swallowing-related quality of life in Friedreich ataxia
(Springer, 2014)
Dysphagia in Friedreich ataxia (FRDA) and its impact on quality of life is not adequately understood. The objective of this study was to characterise dysphagia in FRDA and to determine the impact of swallowing dysfunction ...
Primary cutaneous CD4/CD56 hematodermic neoplasm (blastic NK-cell lymphoma): a report of five cases
(Ferrata Storti, 2006)
CD4/CD56hematodermic neoplasm (WHO- EORTC) or blastic NK-cell lymphoma (WHO) is a rare aggressive CD4+CD56+lin- skin-tropic lymphoma of putative early-plasmacytoid dendritic cell origin. We present five cases to highlight ...
The sensitivity of CD138 immunostaining of bone marrow trephine specimens for quantifying marrow involvement in MGUS and myeloma,including samples with a low percentage of plasma cells
(European Hematology Association, 2006)
Accurate quantification of plasma cells in bone marrow samples is essential for the diagnosis, classification and prognosis of plasma-cell dyscrasias. Published comparisons between aspirate/trephine morphology, flow cytometry ...
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