Results 51 to 60 of about 343,330 (314)

Mutations in APC, CTNNBI and K-ras genes and expression of hMLHI in sporadic colorectal carcinomas from the Netherlands Cohort Study [PDF]

open access: yes, 2005
22.08.14 KB.
de Goeij, AFPM   +58 more
core   +1 more source

Clinical relevance and outcome of familial papillary thyroid cancer: a single institution study of 626 familial cases

open access: yesFrontiers in Endocrinology, 2023
BackgroundWhether familial thyroid cancer is more aggressive than sporadic thyroid cancer remains controversial. Additionally, whether the number of affected family members affects the prognosis is unknown.
Zhuyao Li   +6 more
doaj   +1 more source

Five‐Year Disease Progression in Synuclein Seeding Positive Sporadic Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective To provide a comprehensive description of disease progression in synuclein seeding assay (SAA) positive sporadic Parkinson Disease participants, using Neuronal Synuclein Disease integrated biological and functional impairment staging framework.
Paulina Gonzalez‐Latapi   +19 more
wiley   +1 more source

The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis. [PDF]

open access: yes, 2015
A previous study showed that, in carriers of the apolipoprotein E (APOE) genotype ε3/ε3 or ε3/ε4, the presence of a very long (VL) polyT repeat allele in "translocase of outer mitochondrial membrane 40" (TOMM40) was less frequent in patients with ...
Gang, Q.   +50 more
core  

Bilateral sporadic aniridia: review of management

open access: yes, 2010
Caroline O Adeoti1, Adeyinka A Afolabi2, Adebimpe O Ashaye3, Adenike O Adeoye41Department of Ophthalmology, 2Department of Paediatrics, Ladoke Akintola University of Technology (LAUTECH) Teaching Hospital, Osogbo, Osun State, Nigeria; 3University College
Adeyinka A Afolabi   +4 more
core   +1 more source

Differentiation of Prions from L-type BSE versus Sporadic Creutzfeldt-Jakob Disease

open access: yesEmerging Infectious Diseases, 2012
We compared transmission characteristics for prions from L-type bovine spongiform encephalopathy and MM2-cortical sporadic Creutzfeldt-Jakob disease in the Syrian golden hamster and an ovine prion protein–transgenic mouse line and isolated distinct prion
Simon Nicot   +5 more
doaj   +1 more source

A Prospective Study of Individuals at Risk of Multiple Sclerosis Informs the Design of Primary Prevention Studies

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective In multiple sclerosis, the optimal time for deploying a therapeutic intervention is before the central nervous system is damaged; given the success of trials treating the earliest stage of MS, the radiologically isolated syndrome, developing primary prevention strategies is an important next challenge.
Amy W. Laitinen   +7 more
wiley   +1 more source

CSF Monoamine Metabolites and Cognitive Trajectory in Early Parkinson's Disease

open access: yesAnnals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background Imaging and postmortem studies indicate that abnormalities in monoaminergic neurotransmission contribute to cognitive impairment in Parkinson's disease (PD). However, it remains uncertain if cerebrospinal fluid (CSF) monoamine metabolites can serve as biomarkers of cognitive decline in early PD.
Jing‐Yu Shao   +7 more
wiley   +1 more source

Beyond PrP res type 1/type 2 dichotomy in Creutzfeldt-Jakob disease [PDF]

open access: yes, 2008
Sporadic Creutzfeldt-Jakob disease (sCJD) cases are currently subclassified according to the methionine/valine polymorphism at codon 129 of the PRNP gene and the proteinase K (PK) digested abnormal prion protein (PrPres)identified on Western blotting ...
Ironside, James W   +82 more
core   +1 more source

Untangling sporadic brain arteriovenous malformations: towards targeting the KRAS/MAPK pathway

open access: yesFrontiers in Surgery
Brain arteriovenous malformations (AVMs) are vascular lesions characterized by abnormal connections between parenchymal arteries and veins, bypassing a capillary bed, and forming a nidus.
Rashad Jabarkheel   +11 more
doaj   +1 more source

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