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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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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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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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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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Relationship between C9orf72 repeat size and clinical phenotype

Current opinion in genetics & development, 2017-06, Vol.44, p.117-124

2017

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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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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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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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NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

Genome Biology, 2019-11, Vol.20 (1), p.239-239, Article 239

2019

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Loss of progranulin function in frontotemporal lobar degeneration

Trends in genetics, 2008-04, Vol.24 (4), p.186-194

2008

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The Cerebrospinal Fluid Aβ1-42/Aβ1-40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer's Disease in a Clinical Setting

Journal of Alzheimer's disease, 2017, Vol.60 (2), p.561-576

2017

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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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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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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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Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle

Human mutation, 2003-08, Vol.22 (2), p.175-176

2003

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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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Diffusion kurtosis imaging to detect amyloidosis in an APP/PS1 mouse model for Alzheimer's disease

Magnetic resonance in medicine, 2013-04, Vol.69 (4), p.1115-1121

2013

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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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novoSNP, a novel computational tool for sequence variation discovery

Genome research, 2005-03, Vol.15 (3), p.436-442

2005

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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

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

NanoPack: visualizing and processing long-read sequencing data

Locus-specific mutation databases for neurodegenerative brain diseases

Newest Methods for Detecting Structural Variations

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

Relationship between C9orf72 repeat size and clinical phenotype

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

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

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

NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION

Loss of progranulin function in frontotemporal lobar degeneration

The Cerebrospinal Fluid Aβ1-42/Aβ1-40 Ratio Improves Concordance with Amyloid-PET for Diagnosing Alzheimer's Disease in a Clinical Setting

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

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

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

Digenic progressive external ophthalmoplegia in a sporadic patient: Recessive mutations in POLG and C10orf2/Twinkle

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

Diffusion kurtosis imaging to detect amyloidosis in an APP/PS1 mouse model for Alzheimer's disease

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

novoSNP, a novel computational tool for sequence variation discovery

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