Tau pathology in frontotemporal lobar degeneration with C9ORF72 hexanucleotide repeat expansion

Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion

(2012) Johannes Brettschneider et al.   ACTA NEUROPATHOLOGICA

Clinical and pathological features of familial frontotemporal dementia caused by C9ORF72 mutation on chromosome 9p

(2012) G.-Y. R. Hsiung et al.   BRAIN

The clinical and pathological phenotype of C9ORF72 hexanucleotide repeat expansions

(2012) Javier Simón-Sánchez et al.   BRAIN

Characterization of frontotemporal dementia and/or amyotrophic lateral sclerosis associated with the GGGGCC repeat expansion in C9ORF72

(2012) Bradley F. Boeve et al.   BRAIN

Frontotemporal dementia with the C9ORF72 hexanucleotide repeat expansion: clinical, neuroanatomical and neuropathological features

(2012) C. J. Mahoney et al.   BRAIN

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

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

Tau and p-tau as CSF biomarkers in dementia: a meta-analysis

(2011) Argonde C. van Harten et al.   CLINICAL CHEMISTRY AND LABORATORY MEDICINE

Ubiquilin-1 Is a Molecular Chaperone for the Amyloid Precursor Protein

(2011) Emily S. Stieren et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Neuropathologically defined subtypes of Alzheimer's disease with distinct clinical characteristics: a retrospective study

(2011) Melissa E Murray et al.   LANCET NEUROLOGY

Mutations in UBQLN2 cause dominant X-linked juvenile and adult-onset ALS and ALS/dementia

(2011) Han-Xiang Deng et al.   NATURE

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

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

An MND/ALS phenotype associated withC9orf72repeat expansion: Abundant p62-positive, TDP-43-negative inclusions in cerebral cortex, hippocampus and cerebellum but without associated cognitive decline

(2011) Claire Troakes et al.   NEUROPATHOLOGY

Evaluation of subcortical pathology and clinical correlations in FTLD-U subtypes

(2009) Keith A. Josephs et al.   ACTA NEUROPATHOLOGICA

Phosphorylated TDP-43 in Alzheimer’s disease and dementia with Lewy bodies

(2009) Tetsuaki Arai et al.   ACTA NEUROPATHOLOGICA

A new subtype of frontotemporal lobar degeneration with FUS pathology

(2009) M. Neumann et al.   BRAIN

Temporal lobar predominance of TDP-43 neuronal cytoplasmic inclusions in Alzheimer disease

(2008) William T. Hu et al.   ACTA NEUROPATHOLOGICA

Prevalence and impact of vascular and Alzheimer pathologies in Lewy body disease

(2008) Kurt A. Jellinger et al.   ACTA NEUROPATHOLOGICA

Concomitant TAR-DNA-Binding Protein 43 Pathology Is Present in Alzheimer Disease and Corticobasal Degeneration but Not in Other Tauopathies

(2008) Kunihiro Uryu et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Abnormal TDP-43 immunoreactivity in AD modifies clinicopathologic and radiologic phenotype

(2008) K. A. Josephs et al.   NEUROLOGY

Novel Mutations in TARDBP (TDP-43) in Patients with Familial Amyotrophic Lateral Sclerosis

(2008) Nicola J. Rutherford et al.   PLoS Genetics

Prominent phenotypic variability associated with mutations in Progranulin

(2007) Brendan J. Kelley et al.   NEUROBIOLOGY OF AGING