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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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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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APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

Brain (London, England : 1878), 2006-11, Vol.129 (11), p.2977-2983

2006

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De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

American journal of human genetics, 2001-06, Vol.68 (6), p.1327-1332

2001

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NanoPack: visualizing and processing long-read sequencing data

Bioinformatics, 2018-08, Vol.34 (15), p.2666-2669

2018

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Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

Neurobiology of disease, 2020-02, Vol.134, p.104639, Article 104639

2020

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

Science (American Association for the Advancement of Science), 2013-03, Vol.339 (6125), p.1335-1338

2013

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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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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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TDP-43 Loss-of-Function Causes Neuronal Loss Due to Defective Steroid Receptor-Mediated Gene Program Switching in Drosophila

Cell reports (Cambridge), 2013-01, Vol.3 (1), p.160-172

2013

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The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

Annals of medicine (Helsinki), 2012-12, Vol.44 (8), p.817-828

2012

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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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Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

Scientific reports, 2016-02, Vol.6 (1), p.20877-20877, Article 20877

2016

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Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease

Brain (London, England : 1878), 2006-11, Vol.129 (11), p.2984-2991

2006

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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 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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The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease

Proceedings of the National Academy of Sciences - PNAS, 2024-09, Vol.121 (37), p.e2408262121

2024

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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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Hippocampal Sclerosis in Frontotemporal Dementia: When Vascular Pathology Meets Neurodegeneration

Journal of neuropathology and experimental neurology, 2021-04, Vol.80 (4), p.313-324

2021

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A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

EMBO molecular medicine, 2018-06, Vol.10 (6), p.n/a

2018

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Genomewide Scan for Affective Disorder Susceptibility Loci in Families of a Northern Swedish Isolated Population

American journal of human genetics, 2005-02, Vol.76 (2), p.237-248

2005

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

The genetic landscape of Alzheimer disease: clinical implications and perspectives

APP duplication is sufficient to cause early onset Alzheimer's dementia with cerebral amyloid angiopathy

De Novo Mutations in the Sodium-Channel Gene SCN1A Cause Severe Myoclonic Epilepsy of Infancy

NanoPack: visualizing and processing long-read sequencing data

Stress granule mediated protein aggregation and underlying gene defects in the FTD-ALS spectrum

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

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

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

TDP-43 Loss-of-Function Causes Neuronal Loss Due to Defective Steroid Receptor-Mediated Gene Program Switching in Drosophila

The molecular basis of the frontotemporal lobar degeneration-amyotrophic lateral sclerosis spectrum

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

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

Genetic risk and transcriptional variability of amyloid precursor protein in Alzheimer's disease

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

The SORL1 p.Y1816C variant causes impaired endosomal dimerization and autosomal dominant Alzheimer's disease

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

Hippocampal Sclerosis in Frontotemporal Dementia: When Vascular Pathology Meets Neurodegeneration

A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

Genomewide Scan for Affective Disorder Susceptibility Loci in Families of a Northern Swedish Isolated Population

Rare variants in IFFO1, DTNB, NLRC3 and SLC22A10 associate with Alzheimer’s disease CSF profile of neuronal injury and inflammation

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

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