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Distinct genetic forms of frontotemporal dementia

Neurology, 2008-10, Vol.71 (16), p.1220-1226

2008

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Loss of the Parkinson's disease-linked gene DJ-1 perturbs mitochondrial dynamics

Human molecular genetics, 2010-10, Vol.19 (19), p.3734-3746

2010

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DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

Neurological sciences, 2003-10, Vol.24 (3), p.159-160

2003

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TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations

Brain (London, England : 1878), 2007-05, Vol.130 (5), p.1375-1385

2007

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Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

Neurology, 2011-03, Vol.76 (9), p.844-846

2011

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Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort

Journal of neurology, 2014-11, Vol.261 (11), p.2085-2092

2014

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Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

Clinical genetics, 2014-02, Vol.85 (2), p.154-158

2014

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Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI

Neuropediatrics, 2011-02, Vol.42 (1), p.1-3

2011

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Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

BMC medical genetics, 2015-07, Vol.16 (1), p.50-50, Article 50

2015

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Phenotypic variation in hereditary frontotemporal dementia with tau mutations

Annals of neurology, 1999-10, Vol.46 (4), p.617-626

1999

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An integrated expression atlas of miRNAs and their promoters in human and mouse

Nature biotechnology, 2017-09, Vol.35 (9), p.872-878

2017

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Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25

Genes, brain and behavior, 2012-10, Vol.11 (7), p.767-771

2012

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Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: A genetic and clinicopathological study of three dutch families

Annals of neurology, 1997-02, Vol.41 (2), p.150-159

1997

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Proteomic and Functional Analyses Reveal a Mitochondrial Dysfunction in P301L Tau Transgenic Mice

The Journal of biological chemistry, 2005-06, Vol.280 (25), p.23802-23814

2005

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Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia

Neurology, 2013-02, Vol.80 (9), p.814-823

2013

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Drosophila DJ-1 Mutants Are Selectively Sensitive to Environmental Toxins Associated with Parkinson’s Disease

Current biology, 2005-09, Vol.15 (17), p.1572-1577

2005

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Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

Journal of neurology, neurosurgery and psychiatry, 2017-02, Vol.88 (2), p.152-164

2017

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Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients

Human molecular genetics, 2000-12, Vol.9 (20), p.3075-3082

2000

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Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

Science (American Association for the Advancement of Science), 2003-01, Vol.299 (5604), p.256-259

2003

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A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

Genetic counseling, 2012-01, Vol.23 (2), p.185

2012

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P3.032 Differences in gene expression patterns in the olfactory bulb of Parkinson patients and related disorders?

Parkinsonism & related disorders, 2009, Vol.15, p.S156-S156

2009

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Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

Nature (London), 1998-06, Vol.393 (6686), p.702-705

1998

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3.504 Parkin, PINK1 and DJ-1 mutations in Dutch patients with early-onset parkinsonism

Parkinsonism & related disorders, 2007, Vol.13, p.S188-S188

2007

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3.505 Di-nucleotide polymorphism upstream of alpha-synuclein determines susceptibility to Parkinson's disease

Parkinsonism & related disorders, 2007, Vol.13, p.S188-S189

2007

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Distinct genetic forms of frontotemporal dementia

Loss of the Parkinson's disease-linked gene DJ-1 perturbs mitochondrial dynamics

DJ-1( PARK7), a novel gene for autosomal recessive, early onset parkinsonism

TDP-43 pathology in familial frontotemporal dementia and motor neuron disease without Progranulin mutations

Sporadic COL4A1 mutations with extensive prenatal porencephaly resembling hydranencephaly

Mutation frequency of PRKAR1B and the major familial dementia genes in a Dutch early onset dementia cohort

Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia

Fetal origin of brain damage in 2 infants with a COL4A1 mutation: fetal and neonatal MRI

Determining the genome-wide kinship coefficient seems unhelpful in distinguishing consanguineous couples with a high versus low risk for adverse reproductive outcome

Phenotypic variation in hereditary frontotemporal dementia with tau mutations

An integrated expression atlas of miRNAs and their promoters in human and mouse

Supporting the generalist genes hypothesis for intellectual ability/disability: the case of SNAP25

Hereditary frontotemporal dementia is linked to chromosome 17q21-q22: A genetic and clinicopathological study of three dutch families

Proteomic and Functional Analyses Reveal a Mitochondrial Dysfunction in P301L Tau Transgenic Mice

Structural and functional brain connectivity in presymptomatic familial frontotemporal dementia

Drosophila DJ-1 Mutants Are Selectively Sensitive to Environmental Toxins Associated with Parkinson’s Disease

Genetic architecture of sporadic frontotemporal dementia and overlap with Alzheimer's and Parkinson's diseases

Mutation-dependent aggregation of tau protein and its selective depletion from the soluble fraction in brain of P301L FTDP-17 patients

Mutations in the DJ-1 Gene Associated with Autosomal Recessive Early-Onset Parkinsonism

A new family with autosomal dominant porencephaly with a novel Col4A1 mutation. Are arachnoid cysts related to Col4A1 mutations?

Genome-wide association for major depressive disorder: a possible role for the presynaptic protein piccolo

P3.032 Differences in gene expression patterns in the olfactory bulb of Parkinson patients and related disorders?

Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17

3.504 Parkin, PINK1 and DJ-1 mutations in Dutch patients with early-onset parkinsonism

3.505 Di-nucleotide polymorphism upstream of alpha-synuclein determines susceptibility to Parkinson's disease

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