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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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Locus-specific mutation databases for neurodegenerative brain diseases

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

2012

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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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Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

Genome research, 2019-07, Vol.29 (7), p.1178-1187

2019

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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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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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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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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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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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Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Nature genetics, 2004-06, Vol.36 (6), p.597-601

2004

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Major affective disorders and schizophrenia: a common molecular signature?

Human mutation, 2006-09, Vol.27 (9), p.833-853

2006

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Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

Nature genetics, 2008-12, Vol.40 (12), p.1402-1403

2008

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Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease

American journal of human genetics, 2006-06, Vol.78 (6), p.936-946

2006

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CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

Human molecular genetics, 2008-01, Vol.17 (2), p.313-322

2008

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Alzheimer-associated C allele of the promoter polymorphism −22C>T causes a critical neuron-specific decrease of presenilin 1 expression

Human molecular genetics, 2003-04, Vol.12 (8), p.869-877

2003

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Progress in unraveling the genetic etiology of Parkinson disease in a genomic era

Trends in genetics, 2015-03, Vol.31 (3), p.140-149

2015

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A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population

American journal of human genetics, 2007-07, Vol.81 (1), p.17-31

2007

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Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Nature genetics, 2005-10, Vol.37 (10), p.1044-1046

2005

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Genes and loci involved in febrile seizures and related epilepsy syndromes

Human mutation, 2006-05, Vol.27 (5), p.391-401

2006

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Presenilins and Alzheimer disease

Nature genetics, 1995-11, Vol.11 (3), p.230-232

Broeckhoven, Christine Van

1995

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ALS Genes in the Genomic Era and their Implications for FTD

Trends in genetics, 2018-06, Vol.34 (6), p.404-423

2018

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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

Locus-specific mutation databases for neurodegenerative brain diseases

Relationship between C9orf72 repeat size and clinical phenotype

Structural variants identified by Oxford Nanopore PromethION sequencing of the human genome

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

Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases

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

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

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

novoSNP, a novel computational tool for sequence variation discovery

Hot-spot residue in small heat-shock protein 22 causes distal motor neuropathy

Major affective disorders and schizophrenia: a common molecular signature?

Genetic variation in the KIF1B locus influences susceptibility to multiple sclerosis

Promoter Mutations That Increase Amyloid Precursor-Protein Expression Are Associated with Alzheimer Disease

CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro

Alzheimer-associated C allele of the promoter polymorphism −22C>T causes a critical neuron-specific decrease of presenilin 1 expression

Progress in unraveling the genetic etiology of Parkinson disease in a genomic era

A Genomewide Screen for Late-Onset Alzheimer Disease in a Genetically Isolated Dutch Population

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

Genes and loci involved in febrile seizures and related epilepsy syndromes

Presenilins and Alzheimer disease

ALS Genes in the Genomic Era and their Implications for FTD

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