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Genetics of dementia

The Lancet (British edition), 2014-03, Vol.383 (9919), p.828-840

2014

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Stepping into the Role of Editor-In-Chief

Dementia and geriatric cognitive disorders, 2023-05, Vol.52 (1), p.3-3

Kwok, John B.

2023

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Role of the Long Non-Coding RNA MAPT-AS1 in Regulation of Microtubule Associated Protein Tau (MAPT) Expression in Parkinson's Disease

PloS one, 2016-06, Vol.11 (6), p.e0157924-e0157924

2016

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The Role of White Matter Dysfunction and Leukoencephalopathy/Leukodystrophy Genes in the Aetiology of Frontotemporal Dementias: Implications for Novel Approaches to Therapeutics

International journal of molecular sciences, 2021-03, Vol.22 (5), p.2541

2021

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Cerebellar integrity in the amyotrophic lateral sclerosis-frontotemporal dementia continuum

PloS one, 2014-08, Vol.9 (8), p.e105632-e105632

2014

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Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies

Brain (London, England : 1878), 2018-02, Vol.141 (2), p.521-534

2018

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C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts

Neurology, 2012-09, Vol.79 (10), p.995-1001

2012

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The complex relationship between genotype, pathology and phenotype in familial dementia

Neurobiology of disease, 2020-11, Vol.145, p.105082-105082, Article 105082

2020

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The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus

Molecular neurodegeneration, 2023-09, Vol.18 (1), p.63-63, Article 63

2023

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C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

PloS one, 2013-02, Vol.8 (2), p.e56899

2013

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GSK3B polymorphisms alter transcription and splicing in Parkinson's disease

Annals of neurology, 2005-12, Vol.58 (6), p.829-839

2005

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TDP-43 proteinopathies: pathological identification of brain regions differentiating clinical phenotypes

Brain (London, England : 1878), 2015-10, Vol.138 (Pt 10), p.3110-3122

2015

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Single-cell DNA methylation sequencing by combinatorial indexing and enzymatic DNA methylation conversion

Cell & bioscience, 2023-01, Vol.13 (1), p.2-2, Article 2

2023

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Plasma apolipoproteins and physical and cognitive health in very old individuals

Neurobiology of aging, 2017-07, Vol.55, p.49-60

2017

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A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome

PloS one, 2012-10, Vol.7 (10), p.e47457

2012

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DNA methylation of the MAPT gene in Parkinson's disease cohorts and modulation by vitamin E In Vitro

Movement disorders, 2014-11, Vol.29 (13), p.1606-1614

2014

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Correction: The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus

Molecular neurodegeneration, 2024-02, Vol.19 (1), p.21-21, Article 21

2024

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Srp20 regulates TrkB pre-mRNA splicing to generate TrkB-Shc transcripts with implications for Alzheimer's disease

Journal of neurochemistry, 2012-10, Vol.123 (1), p.159-171

2012

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Rapid in vitro quantification of TDP-43 and FUS mislocalisation for screening of gene variants implicated in frontotemporal dementia and amyotrophic lateral sclerosis

Scientific reports, 2021-07, Vol.11 (1), p.14881-14881, Article 14881

2021

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Polygenic risk of paclitaxel-induced peripheral neuropathy: a genome-wide association study

Journal of translational medicine, 2022-12, Vol.20 (1), p.564-564, Article 564

2022

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Heritability in frontotemporal dementia: more missing pieces?

Journal of neurology, 2014-11, Vol.261 (11), p.2170-2177

2014

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Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations

Acta neuropathologica communications, 2023-03, Vol.11 (1), p.52-52, Article 52

2023

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Coexisting Lewy body disease and clinical parkinsonism in frontotemporal lobar degeneration

Neurology, 2019-05, Vol.92 (21), p.e2472

2019

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Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis

Acta neuropathologica, 2013-04, Vol.125 (4), p.523-533

2013

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ATP-binding cassette transporter A7 regulates processing of amyloid precursor protein in vitro

Journal of neurochemistry, 2008-07, Vol.106 (2), p.793-804

2008

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Genetics of dementia

Stepping into the Role of Editor-In-Chief

Role of the Long Non-Coding RNA MAPT-AS1 in Regulation of Microtubule Associated Protein Tau (MAPT) Expression in Parkinson's Disease

The Role of White Matter Dysfunction and Leukoencephalopathy/Leukodystrophy Genes in the Aetiology of Frontotemporal Dementias: Implications for Novel Approaches to Therapeutics

Cerebellar integrity in the amyotrophic lateral sclerosis-frontotemporal dementia continuum

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts

The complex relationship between genotype, pathology and phenotype in familial dementia

The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus

C9ORF72 repeat expansion in Australian and Spanish frontotemporal dementia patients

GSK3B polymorphisms alter transcription and splicing in Parkinson's disease

TDP-43 proteinopathies: pathological identification of brain regions differentiating clinical phenotypes

Single-cell DNA methylation sequencing by combinatorial indexing and enzymatic DNA methylation conversion

Plasma apolipoproteins and physical and cognitive health in very old individuals

A role for transcription factor GTF2IRD2 in executive function in Williams-Beuren syndrome

DNA methylation of the MAPT gene in Parkinson's disease cohorts and modulation by vitamin E In Vitro

Correction: The major TMEM106B dementia risk allele affects TMEM106B protein levels, fibril formation, and myelin lipid homeostasis in the ageing human hippocampus

Srp20 regulates TrkB pre-mRNA splicing to generate TrkB-Shc transcripts with implications for Alzheimer's disease

Rapid in vitro quantification of TDP-43 and FUS mislocalisation for screening of gene variants implicated in frontotemporal dementia and amyotrophic lateral sclerosis

Polygenic risk of paclitaxel-induced peripheral neuropathy: a genome-wide association study

Heritability in frontotemporal dementia: more missing pieces?

Disrupted myelin lipid metabolism differentiates frontotemporal dementia caused by GRN and C9orf72 gene mutations

Coexisting Lewy body disease and clinical parkinsonism in frontotemporal lobar degeneration

Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis

ATP-binding cassette transporter A7 regulates processing of amyloid precursor protein in vitro

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