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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

American journal of human genetics, 2011-08, Vol.89 (2), p.241-252

2011

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Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study

Lancet neurology, 2015-08, Vol.14 (8), p.814-822

2015

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The genetic landscape of Alzheimer disease: clinical implications and perspectives

Genetics in medicine, 2016-05, Vol.18 (5), p.421-430

2016

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Locus-specific mutation databases for neurodegenerative brain diseases

Human mutation, 2012-09, Vol.33 (9), p.1340-1344

2012

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Newest Methods for Detecting Structural Variations

Trends in biotechnology (Regular ed.), 2019-09, Vol.37 (9), p.973-982

2019

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Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis

Acta neuropathologica communications, 2020-05, Vol.8 (1), p.63-63, Article 63

2020

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Genotype-phenotype links in frontotemporal lobar degeneration

Nature reviews. Neurology, 2018-06, Vol.14 (6), p.363-378

2018

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Reply: Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer’s disease in the European American population

Acta neuropathologica, 2021-04, Vol.141 (4), p.625-626

2021

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The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease

Molecular neurodegeneration, 2022-04, Vol.17 (1), p.31-31, Article 31

2022

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Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism

Acta neuropathologica, 2020-11, Vol.140 (5), p.787-789

2020

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International view on genetic frontotemporal dementia

Lancet neurology, 2020-02, Vol.19 (2), p.106-108

2020

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Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

Human genomics, 2009-01, Vol.3 (2), p.169-190

2009

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Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants

Alzheimer's & dementia : diagnosis, assessment & disease monitoring, 2021, Vol.13 (1), p.e12155-n/a

2021

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TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

Proceedings of the National Academy of Sciences - PNAS, 2010-02, Vol.107 (8), p.3858-3863

2010

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The genetics and neuropathology of frontotemporal lobar degeneration

Acta neuropathologica, 2012-09, Vol.124 (3), p.353-372

2012

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The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications

Frontiers in neuroscience, 2019-08, Vol.13, p.757-757

2019

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Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

Genome medicine, 2021-04, Vol.13 (1), p.59-59, Article 59

2021

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An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

Acta neuropathologica, 2018-06, Vol.135 (6), p.827-837

2018

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Mechanisms of Granulin Deficiency: Lessons from Cellular and Animal Models

Molecular neurobiology, 2013-02, Vol.47 (1), p.337-360

2013

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Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

Proceedings of the National Academy of Sciences - PNAS, 2013-03, Vol.110 (13), p.4986-4991

2013

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Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

Neurobiology of aging, 2017-03, Vol.51, p.177.e9-177.e16

2017

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Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion

Acta neuropathologica communications, 2022-03, Vol.10 (1), p.43-43, Article 43

2022

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Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Nature genetics, 2001-07, Vol.28 (3), p.211-212

2001

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Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene

International journal of molecular sciences, 2021-12, Vol.22 (24), p.13633

2021

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Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

Orphanet journal of rare diseases, 2019-08, Vol.14 (1), p.197-197, Article 197

2019

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Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Mutations in ABCA7 in a Belgian cohort of Alzheimer's disease patients: a targeted resequencing study

The genetic landscape of Alzheimer disease: clinical implications and perspectives

Locus-specific mutation databases for neurodegenerative brain diseases

Newest Methods for Detecting Structural Variations

Genetic perspective on the synergistic connection between vesicular transport, lysosomal and mitochondrial pathways associated with Parkinson's disease pathogenesis

Genotype-phenotype links in frontotemporal lobar degeneration

Reply: Lack of evidence supporting a role for DPP6 sequence variants in Alzheimer’s disease in the European American population

The role of ATP-binding cassette subfamily A in the etiology of Alzheimer's disease

Reply: Segregation of ATP10B variants in families with autosomal recessive Parkinsonism

International view on genetic frontotemporal dementia

Novel variants of major drug-metabolising enzyme genes in diverse African populations and their predicted functional effects

Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants

TDP-43 transgenic mice develop spastic paralysis and neuronal inclusions characteristic of ALS and frontotemporal lobar degeneration

The genetics and neuropathology of frontotemporal lobar degeneration

The Use of Biomarkers and Genetic Screening to Diagnose Frontotemporal Dementia: Evidence and Clinical Implications

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

An intronic VNTR affects splicing of ABCA7 and increases risk of Alzheimer’s disease

Mechanisms of Granulin Deficiency: Lessons from Cellular and Animal Models

Loss of ALS-associated TDP-43 in zebrafish causes muscle degeneration, vascular dysfunction, and reduced motor neuron axon outgrowth

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

Rare missense mutations in ABCA7 might increase Alzheimer's disease risk by plasma membrane exclusion

Mutation of POLG is associated with progressive external ophthalmoplegia characterized by mtDNA deletions

Investigating the Endo-Lysosomal System in Major Neurocognitive Disorders Due to Alzheimer's Disease, Frontotemporal Lobar Degeneration and Lewy Body Disease: Evidence for SORL1 as a Cross-Disease Gene

Peripheral myelin protein 2 - a novel cluster of mutations causing Charcot-Marie-Tooth neuropathy

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