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The discovery of biomarkers for Parkinson's disease (PD) is challenging due to the heterogeneous nature of this disorder, and a poor correlation between the underlying pathology and the clinically expressed phenotype.
Joji M. Y. Teves +14 more
doaj +1 more source
Report of a Case of Creutzfeldt-Jakob Disease With an Unusual Clinical Presentation
We describe the clinical features, neuropsychological tests, laboratory, electroencephalography (EEG), magnetic resonance imaging (MRI) and positron emission tomography (PET) findings of a 59-year-old woman who presented to our Centre for cognitive ...
Elena Prodi +4 more
doaj +1 more source
Medullary carcinoma of thyroid: Case report and a review of literature
Medullary thyroid carcinoma (MTC) constitutes around 5% of all thyroid cancers. It accounts for as much as 13% of all thyroid cancer-related deaths. MTC usually arises from parafollicular C-cells that normally secrete a number of peptide hormones such as
Ratna Priya +2 more
doaj +1 more source
Background and purposeHereditary spastic paraplegias (HSPs) are a set of heterogeneous neurodegenerative disorders characterized by bilateral lower limb spasticity. They may present from infancy onwards at any time.
Azusa Ikeda +9 more
doaj +1 more source
Let $K$ be a number field, and let $E/K$ be an elliptic curve over $K$. The Mordell--Weil theorem asserts that the $K$-rational points $E(K)$ of $E$ form a finitely generated abelian group. In this work, we complete the classification of the finite groups which appear as the torsion subgroup of $E(K)$ for $K$ a cubic number field.
Derickx, Maarten +4 more
openaire +2 more sources
Ichthyosis hystrix: An unusual presentation
Ichthyosis hystrix (IH) is a rare, genetically, and clinically heterogeneous group of ichthyosiform dermatoses characterized by spiny hyperkeratotic scales. It is inherited either as an autosomal dominant or a sporadic variety.
Vijayeeta Jairath +4 more
doaj +1 more source
Common NOD2/CARD15 variants are not associated with susceptibility or the clinicopathologic characteristics of sporadic colorectal cancer in Hungarian patients [PDF]
Background: Epidemiological observations suggest that cancer arises from chronically inflamed tissues. Inflammatory bowel disease (IBD) is a typical example as patients with longstanding IBD are at an increased risk for developing colorectal cancer (CRC)
Zinober Kerstin +35 more
core +1 more source
Evidence for a pathogenic role of different mutations at codon 188 of PRNP [PDF]
Clinical and pathological changes in familial Creutzfeldt-Jakob disease (CJD) cases may be similar or indistinguishable from sporadic CJD. Therefore determination of novel mutations in PRNP remains of major importance.
Eva-Maria Grasbon-Frodl +49 more
core +1 more source

