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Lysosome & C9orf72

Lysosome & C9orf72 diagram by Bandyopadhyay et al, PLOS One
Bandyopadhyay et al, PLOS One

This feed focuses on the C9orf72 protein and its possible role in lysosome function and implication in frontotemporal dementia and amyotrophic lateral sclerosis

Top 20 most recent papers
Acta Neuropathologica

Correction to: A nonsynonymous mutation in PLCG2 reduces the risk of Alzheimer's disease, dementia with Lewy bodies and frontotemporal dementia, and increases the likelihood of longevity

Acta NeuropathologicaJanuary 20, 2020
Sven J van der LeeHenne Holstege
6
Neurology

ALS phenotype is influenced by age, sex, and genetics: A population-based study

NeurologyJanuary 8, 2020
Adriano ChiòAndrea Calvo
12
1
bioRxiv

Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair

bioRxivDecember 20, 2019
Nidaa AbabnehKevin Talbot
20
Neuron

Aβ Puts the Alpha in Synuclein

NeuronJanuary 24, 2020
Casey Cook, L Petrucelli
Acta Neuropathologica

Fulminant corticobasal degeneration: a distinct variant with predominant neuronal tau aggregates

Acta NeuropathologicaJanuary 18, 2020
Helen LingTamas Revesz
16
1
Acta Neuropathologica

An update on the CNS manifestations of brain tumor polyposis syndromes

Acta NeuropathologicaJanuary 24, 2020
Byungjin KimCynthia Hawkins
Neurobiology of Aging

Trajectory of lobar atrophy in asymptomatic and symptomatic GRN mutation carriers: a longitudinal MRI study

Neurobiology of AgingJanuary 11, 2020
Qin ChenK Kantarci
1
1
Alzheimer's & Dementia : the Journal of the Alzheimer's Association

Assessment of executive function declines in presymptomatic and mildly symptomatic familial frontotemporal dementia: NIH-EXAMINER as a potential clinical trial endpoint

Alzheimer's & Dementia : the Journal of the Alzheimer's AssociationJanuary 9, 2020
A M StaffaroniARTFL/LEFFTDS consortium
Acta Neuropathologica

Loss of H3K27 trimethylation by immunohistochemistry is frequent in oligodendroglioma, IDH-mutant and 1p/19q-codeleted, but is neither a sensitive nor a specific marker

Acta NeuropathologicaJanuary 9, 2020
Melike PekmezciArie Perry
4
Acta Neuropathologica

Familial globular glial tauopathy linked to MAPT mutations: molecular neuropathology and seeding capacity of a prototypical mixed neuronal and glial tauopathy

Acta NeuropathologicaJanuary 8, 2020
Isidro FerrerJosé Antonio Del Rio
2
Acta Neuropathologica

Antibody signatures in patients with histopathologically defined multiple sclerosis patterns

Acta NeuropathologicaJanuary 18, 2020
Lidia StorkImke Metz
4
Acta Neuropathologica

Picalm reduction exacerbates tau pathology in a murine tauopathy model

Acta NeuropathologicaJanuary 12, 2020
Kunie AndoJean-Pierre Brion
8
1
Neurobiology of Aging

Distance disintegration delineates the brain connectivity failure of Alzheimer's disease

Neurobiology of AgingJanuary 17, 2020
Víctor CostumeroJorge Sepulcre
1
Acta Neuropathologica

18F]Flortaucipir distinguishes Alzheimer's disease from progressive supranuclear palsy pathology in a mixed-pathology case

Acta NeuropathologicaJanuary 7, 2020
Ruben SmithOskar Hansson
1
Neurobiology of Aging

Age differences in the fronto-striato-parietal network underlying serial ordering

Neurobiology of AgingJanuary 11, 2020
Zheng YeThomas F Münte
Acta Neuropathologica

Rare IDH1 variants are common in pediatric hemispheric diffuse astrocytomas and frequently associated with Li-Fraumeni syndrome

Acta NeuropathologicaJanuary 4, 2020
David SumerauerMichal Zapotocky
3
bioRxiv

Analysis of brain atrophy and local gene expression implicates astrocytes in Frontotemporal dementia

bioRxivDecember 12, 2019
Andre Altmannon behalf of the Genetic FTD Initiative, GENFI.
21
Journal of Neurology, Neurosurgery, and Psychiatry

Cross-sectional and longitudinal measures of chitinase proteins in amyotrophic lateral sclerosis and expression of CHI3L1 in activated astrocytes

Journal of Neurology, Neurosurgery, and PsychiatryJanuary 16, 2020
Lucas VuRobert Bowser
3
1
Acta Neuropathologica

POGLUT1 biallelic mutations cause myopathy with reduced satellite cells, α-dystroglycan hypoglycosylation and a distinctive radiological pattern

Acta NeuropathologicaJanuary 4, 2020
E Servián-MorillaCarmen Paradas
3
Alzheimer's & Dementia : Diagnosis, Assessment & Disease Monitoring

Nonlinear Z-score modeling for improved detection of cognitive abnormality

Alzheimer's & Dementia : Diagnosis, Assessment & Disease MonitoringDecember 25, 2019
J KornakARTFL/LEFFTDS consortium
2

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