Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort …
…, MG Heckman, NN Diehl, PH Brown… - The Lancet …, 2013 - thelancet.com
Background Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72)
are the most common known genetic cause of frontotemporal dementia (FTD) and …
are the most common known genetic cause of frontotemporal dementia (FTD) and …
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia
…, PH Brown, ME Murray, GYR Hsiung, H Stewart… - Acta …, 2014 - Springer
Variants in transmembrane protein 106 B (TMEM106B) modify the disease penetrance of
frontotemporal dementia (FTD) in carriers of progranulin (GRN) mutations. We investigated …
frontotemporal dementia (FTD) in carriers of progranulin (GRN) mutations. We investigated …
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72
…, M DeJesus-Hernandez, NCA Finch, PH Brown… - Acta …, 2015 - Springer
The loss of chromosome 9 open reading frame 72 (C9ORF72) expression, associated with
C9ORF72 repeat expansions, has not been examined systematically. Three C9ORF72 …
C9ORF72 repeat expansions, has not been examined systematically. Three C9ORF72 …
[HTML][HTML] Long-read sequencing across the C9orf72 'GGGGCC' repeat expansion: implications for clinical use and genetic discovery efforts in human disease
…, M DeJesus-Hernandez, J Jackson, PH Brown… - Molecular …, 2018 - Springer
Background Many neurodegenerative diseases are caused by nucleotide repeat
expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G 4 C 2 ) repeat that causes …
expansions, but most expansions, like the C9orf72 ‘GGGGCC’ (G 4 C 2 ) repeat that causes …
TYROBP genetic variants in early-onset Alzheimer's disease
We aimed to identify new candidate genes potentially involved in early-onset Alzheimer's
disease (EOAD). Exome sequencing was conducted on 45 EOAD patients with either a family …
disease (EOAD). Exome sequencing was conducted on 45 EOAD patients with either a family …
Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers
…, PH Brown, ME Murray, GYR Hsiung, H Stewart… - Neurobiology of …, 2014 - Elsevier
Repeat expansions in chromosome 9 open reading frame 72 (C9ORF72) are an important
cause of both motor neuron disease (MND) and frontotemporal dementia (FTD). Currently, …
cause of both motor neuron disease (MND) and frontotemporal dementia (FTD). Currently, …
[HTML][HTML] Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene
…, PH Brown, ME Murray, GYR Hsiung, H Stewart… - Molecular …, 2014 - Springer
Background Hexanucleotide repeat expansions in chromosome 9 open reading frame 72 (C9ORF72)
are causative for frontotemporal dementia (FTD) and motor neuron disease (MND)…
are causative for frontotemporal dementia (FTD) and motor neuron disease (MND)…
Study of LRRK2 variation in tauopathy: Progressive supranuclear palsy and corticobasal degeneration
…, MG Heckman, P Tacik, N Diehl, PH Brown… - Movement …, 2017 - Wiley Online Library
Background Mutations in the leucine‐rich repeat kinase 2 gene (LRRK2) are the most
common genetic cause of Parkinson's disease (PD). Unexpectedly, tau pathology has been …
common genetic cause of Parkinson's disease (PD). Unexpectedly, tau pathology has been …
A novel tau mutation, p. K317N, causes globular glial tauopathy
…, MC Baker, RL Walton, Y Carlomagno, PH Brown… - Acta …, 2015 - Springer
Globular glial tauopathies (GGTs) are 4-repeat tauopathies neuropathologically characterized
by tau-positive, globular glial inclusions, including both globular oligodendroglial …
by tau-positive, globular glial inclusions, including both globular oligodendroglial …
[HTML][HTML] Matrix metalloproteinases as regulators of periodontal inflammation
Periodontitis are infectious diseases characterized by immune-mediated destruction of
periodontal supporting tissues and tooth loss. Matrix metalloproteinases (MMPs) are key …
periodontal supporting tissues and tooth loss. Matrix metalloproteinases (MMPs) are key …