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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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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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Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum

Neurology, 2008-10, Vol.71 (15), p.1191-1197

2008

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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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Loss of progranulin function in frontotemporal lobar degeneration

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

2008

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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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Serum biomarker for progranulin-associated frontotemporal lobar degeneration

Annals of neurology, 2009-05, Vol.65 (5), p.603-609

2009

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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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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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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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α-Synuclein promoter confers susceptibility to Parkinson's disease

Annals of neurology, 2004-10, Vol.56 (4), p.591-595

2004

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Glucocorticoid Receptor Gene-Based SNP Analysis in Patients with Recurrent Major Depression

Neuropsychopharmacology (New York, N.Y.), 2006-03, Vol.31 (3), p.620-627

2006

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Highly efficient gene delivery by mRNA electroporation in human hematopoietic cells: superiority to lipofection and passive pulsing of mRNA and to electroporation of plasmid cDNA for tumor antigen loading of dendritic cells

Blood, 2001-07, Vol.98 (1), p.49-56

2001

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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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The dopamine D4 receptor gene 48-base-pair-repeat polymorphism and mood disorders: A meta-analysis

Biological psychiatry (1969), 2005-05, Vol.57 (9), p.999-1003

2005

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Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder

Psychiatry research, 2007-09, Vol.153 (1), p.17-25

2007

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Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family

Archives of neurology (Chicago), 2007-10, Vol.64 (10), p.1436

2007

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Atherosclerosis, apolipoprotein E, and prevalence of dementia and Alzheimer's disease in the Rotterdam Study

The Lancet (British edition), 1997-01, Vol.349 (9046), p.151-154

1997

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Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

Human molecular genetics, 2005-07, Vol.14 (13), p.1753-1762

2005

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Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

European journal of human genetics : EJHG, 2003-07, Vol.11 (7), p.547-549

2003

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CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia

Brain (London, England : 1878), 2001-10, Vol.124 (10), p.1939-1947

2001

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

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

Invited article: the Alzheimer disease-frontotemporal lobar degeneration spectrum

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

Loss of progranulin function in frontotemporal lobar degeneration

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

Serum biomarker for progranulin-associated frontotemporal lobar degeneration

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

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

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

α-Synuclein promoter confers susceptibility to Parkinson's disease

Glucocorticoid Receptor Gene-Based SNP Analysis in Patients with Recurrent Major Depression

Highly efficient gene delivery by mRNA electroporation in human hematopoietic cells: superiority to lipofection and passive pulsing of mRNA and to electroporation of plasmid cDNA for tumor antigen loading of dendritic cells

Mutations in SEPT9 cause hereditary neuralgic amyotrophy

The dopamine D4 receptor gene 48-base-pair-repeat polymorphism and mood disorders: A meta-analysis

Single nucleotide polymorphism analysis of corticotropin-releasing factor-binding protein gene in recurrent major depressive disorder

Alzheimer and Parkinson diagnoses in progranulin null mutation carriers in an extended founder family

Atherosclerosis, apolipoprotein E, and prevalence of dementia and Alzheimer's disease in the Rotterdam Study

Genomic architecture of human 17q21 linked to frontotemporal dementia uncovers a highly homologous family of low-copy repeats in the tau region

Novel POLG mutations in progressive external ophthalmoplegia mimicking mitochondrial neurogastrointestinal encephalomyopathy

CAG repeat expansion in the TATA box-binding protein gene causes autosomal dominant cerebellar ataxia

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