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A Recessive Mutation in the APP Gene with Dominant-Negative Effect on Amyloidogenesis
β-Amyloid precursor protein (APP) mutations cause familial Alzheimer's disease with nearly complete penetrance. We found an APP mutation [alanine-673→valine-673 (A673V)] that causes disease only inExpand
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Revelation of a new mitochondrial DNA mutation (G12147A) in a MELAS/MERFF phenotype.
BACKGROUND A 26-year-old man presented at onset with the syndrome of mitochondrial encephalomyopathy, lactic acidosis, and strokelike episodes (MELAS) and later with a phenotype for MELAS andExpand
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MM2‐Thalamic Creutzfeldt–Jakob Disease: Neuropathological, Biochemical and Transmission Studies Identify a Distinctive Prion Strain
In Creutzfeldt–Jakob disease (CJD), molecular typing based on the size of the protease resistant core of the disease‐associated prion protein (PrPSc) and the M/V polymorphism at codon 129 of the PRNPExpand
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Myoclonus in Creutzfeldt‐Jakob disease: Polygraphic and video‐electroencephalography assessment of 109 patients
We used electroencephalography (EEG)‐polygraphic recordings to classify myoclonus in 109 patients with Creutzfeldt‐Jakob disease (CJD) on the basis of its electromyography (EMG) pattern, time course,Expand
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Abnormal Accumulation of tTGase Products in Muscle and Erythrocytes of Chorea‐Acanthocytosis Patients
Chorea-Acanthocytosis (CHAC) is an autosomal recessive disease characterized by neurodegeneration and acanthocytosis. Enhanced creatine kinase concentration is a constant feature of the condition.Expand
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Rac1 activation links tau hyperphosphorylation and Aβ dysmetabolism in Alzheimer’s disease
One of the earliest pathological features characterizing Alzheimer’s disease (AD) is the loss of dendritic spines. Among the many factors potentially mediating this loss of neuronal connectivity, theExpand
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Psychoneuroendocrine modulation of regulatory T lymphocyte system: in vivo and in vitro effects of the pineal immunomodulating hormone melatonin.
BACKGROUND At present, it is known that cancer-related immunosuppression would mainly depend on an immunosuppressive action mediated by a subtype of CD4+ lymphocytes, the so-called regulatory TExpand
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Hereditary cerebral hemorrhage with amyloidosis associated with the E693K mutation of APP.
OBJECTIVE To report the clinical, genetic, neuroimaging, and neuropathologic studies of patients with the hereditary cerebral hemorrhage with amyloidosis linked to the APP E693K mutation. DESIGNExpand
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Creutzfeldt-Jakob disease with a novel extra-repeat insertional mutation in the PRNP gene
The authors investigated two unrelated patients with Creutzfeldt-Jakob disease (CJD) with clinical features of sporadic CJD (sCJD) carrying one extra octapeptide repeat in the prion protein (PrP)Expand
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