Neuropathology

admin March 14, 2019

Abstract

Recently, we provided genetic basis showing that mitochondrial dysfunction can trigger motor neuron degeneration, through identification of CHCHD10 encoding a mitochondrial protein. We reported patients, carrying the p.Ser59Leu heterozygous mutation in CHCHD10, from a large family with a mitochondrial myopathy associated with motor neuron disease (MND).… Read More...

admin March 14, 2019

Abstract

Emerging evidence suggested a converging mechanism in neurodegenerative brain diseases (NBD) involving early neuronal network dysfunctions and alterations in the homeostasis of neuronal firing as culprits of neurodegeneration. In this study, we used paired-end short-read and direct long-read whole genome sequencing to investigate an unresolved autosomal dominant dementia family significantly linked to 7q36.… Read More...

Cinthya Aguero, Maeva Dhaynaut, Marc D. Normandin, Ana C. Amaral, Nicolas J. Guehl, Ramesh Neelamegam, Marta Marquie, Keith A. Johnson, Georges El Fakhri, Matthew P. Frosch and Teresa Gomez-Isla March 11, 2019

[F-18]-MK-6240, a novel tau positron emission tomography (PET) tracer recently discovered for the in vivo detection of neurofibrillary tangles, has the potential to improve diagnostic accuracy in the detection…

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