Increased prevalence of granulovacuolar degeneration in C9orf72 mutation

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

(2018) Bart Swinnen et al.   ACTA NEUROPATHOLOGICA

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

(2018) Yingxiao Shi et al.   NATURE MEDICINE

Amygdala TDP-43 Pathology in Frontotemporal Lobar Degeneration and Motor Neuron Disease

(2017) Takahiro Takeda et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Pathologic Involvement of Glutamatergic Striatal Inputs From the Cortices in TAR DNA-Binding Protein 43 kDa-Related Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2017) Yuichi Riku et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Diagnosis and management of dementia with Lewy bodies

(2017) Ian G. McKeith et al.   NEUROLOGY

Granulovacuolar degeneration: a neurodegenerative change that accompanies tau pathology

(2016) Christoph Köhler   ACTA NEUROPATHOLOGICA

Timing and significance of pathological features inC9orf72expansion-associated frontotemporal dementia

(2016) Sarat C. Vatsavayai et al.   BRAIN

Marked Involvement of the Striatal Efferent System in TAR DNA-Binding Protein 43 kDa-Related Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2016) Yuichi Riku et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway

(2016) Peter M. Sullivan et al.   Acta Neuropathologica Communications

Quantitative analysis and clinico-pathological correlations of different dipeptide repeat protein pathologies in C9ORF72 mutation carriers

(2015) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Expression of neurodegenerative disease-related proteins and caspase-3 in glioneuronal tumours

(2015) A. S. Prabowo et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Neurodegeneration in frontotemporal lobar degeneration and motor neurone disease associated with expansions inC9orf72is linked to TDP-43 pathology and not associated with aggregated forms of dipeptide repeat proteins

(2015) Y. Davidson et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Re-examining tau-immunoreactive pathology in the population: granulovacuolar degeneration and neurofibrillary tangles

(2015) Sally Hunter et al.   Alzheimers Research & Therapy

C9orf72 FTLD/ALS-associated Gly-Ala dipeptide repeat proteins cause neuronal toxicity and Unc119 sequestration

(2014) Stephanie May et al.   ACTA NEUROPATHOLOGICA

The C9orf72 GGGGCC Repeat Is Translated into Aggregating Dipeptide-Repeat Proteins in FTLD/ALS

(2013) K. Mori et al.   SCIENCE

Lower Motor Neuron Involvement in TAR DNA-Binding Protein of 43 kDa–Related Frontotemporal Lobar Degeneration and Amyotrophic Lateral Sclerosis

(2013) Yuichi Riku et al.   JAMA Neurology

Phenotype difference between ALS patients with expanded repeats inC9ORF72and patients with mutations in other ALS-related genes

(2012) Stéphanie Millecamps et al.   JOURNAL OF MEDICAL GENETICS

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

Stages of granulovacuolar degeneration: their relation to Alzheimer’s disease and chronic stress response

(2011) Dietmar Rudolf Thal et al.   ACTA NEUROPATHOLOGICA

Clinical and neuropathologic heterogeneity of c9FTD/ALS associated with hexanucleotide repeat expansion in C9ORF72

(2011) Melissa E. Murray et al.   ACTA NEUROPATHOLOGICA

A harmonized classification system for FTLD-TDP pathology

(2011) Ian R. A. Mackenzie et al.   ACTA NEUROPATHOLOGICA

Fronto-temporal lobar degeneration: neuropathology in 60 cases

(2011) Danielle Seilhean et al.   JOURNAL OF NEURAL TRANSMISSION

Stages of the Pathologic Process in Alzheimer Disease: Age Categories From 1 to 100 Years

(2011) Heiko Braak et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

A novel origin for granulovacuolar degeneration in aging and Alzheimer's disease: parallels to stress granules

(2011) Rudy J Castellani et al.   LABORATORY INVESTIGATION

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

Granulovacuolar Degenerations Appear in Relation to Hippocampal Phosphorylated Tau Accumulation in Various Neurodegenerative Disorders

(2011) Yuu Yamazaki et al.   PLoS One

Granulovacuolar degeneration (GVD) bodies of Alzheimer's disease (AD) resemble late-stage autophagic organelles

(2010) K. E. Funk et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

Immunopositivity for ESCRT-III subunit CHMP2B in granulovacuolar degeneration of neurons in the Alzheimer's disease hippocampus

(2010) Yuu Yamazaki et al.   NEUROSCIENCE LETTERS

Clinical and Pathological Continuum of Multisystem TDP-43 Proteinopathies

(2009) Felix Geser et al.   ARCHIVES OF NEUROLOGY

The ESCRT machinery in endosomal sorting of ubiquitylated membrane proteins

(2009) Camilla Raiborg et al.   NATURE

Phosphorylation-dependent TDP-43 antibody detects intraneuronal dot-like structures showing morphological characters of granulovacuolar degeneration

(2009) Ai Kadokura et al.   NEUROSCIENCE LETTERS