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Mutations of optineurin in amyotrophic lateral sclerosis

Nature (London), 2010-05, Vol.465 (7295), p.223-226

2010

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DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Journal of human genetics, 2021-04, Vol.66 (4), p.419-429

2021

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Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Journal of human genetics, 2021-04, Vol.66 (4), p.449-450

2021

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Brain-derived growth factor and nerve growth factor concentrations are decreased in the substantia nigra in Parkinson's disease

Neuroscience letters, 1999-07, Vol.270 (1), p.45-48

1999

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Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations

Journal of neuropathology and experimental neurology, 2018-02, Vol.77 (2), p.128-138

2018

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C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

Journal of the neurological sciences, 2019-07, Vol.402, p.118-120

2019

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Triggering of neuronal cell death by accumulation of activated SEK1 on nuclear polyglutamine aggregations in PML bodies

Genes to cells : devoted to molecular & cellular mechanisms, 1999-12, Vol.4 (12), p.743-756

1999

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Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation

Acta neuropathologica, 2011-08, Vol.122 (2), p.223-229

2011

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Expression of Kruppel-like factor 5 gene in human brain and association of the gene with the susceptibility to schizophrenia

Schizophrenia research, 2008-03, Vol.100 (1), p.291-301

2008

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Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17

Archives of neurology (Chicago), 2004-02, Vol.61 (2), p.209

2004

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Phenotypic heterogeneity within a new family with the MAPT p301s mutation

Annals of neurology, 2005-12, Vol.58 (6), p.920-928

2005

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SCA8 Repeat Expansion: Large CTA/CTG Repeat Alleles Are More Common in Ataxic Patients, Including Those with SCA6

American journal of human genetics, 2003-03, Vol.72 (3), p.704-709

2003

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Anticipation in hereditary dentatorubral-pallidoluysian atrophy

Human genetics, 1994-06, Vol.93 (6), p.699-702

1994

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Contribution of the interleukin-1β gene polymorphism in multiple system atrophy

Movement disorders, 2002-07, Vol.17 (4), p.808-811

2002

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Molecular Features of the CAG Repeats of Spinocerebellar Ataxia 6 (SCA6)

Human molecular genetics, 1997-08, Vol.6 (8), p.1283-1287

1997

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Phenotypic heterogeneity within a new family with the MAPT P501S mutation

Annals of neurology, 2005, Vol.58 (6), p.920-928

2005

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The Effect of tau genotype on clinical features in FTDP-17

Parkinsonism & related disorders, 2005-06, Vol.11 (4), p.205-208

2005

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A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease

Annals of neurology, 2000-04, Vol.47 (4), p.528-531

2000

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Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)

Human molecular genetics, 1995-04, Vol.4 (4), p.663-666

1995

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Contribution of the interleukin-1b gene polymorphism in multiple system atrophy

Movement disorders, 2002-08, Vol.17 (4), p.808-811

2002

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Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy

Movement disorders, 2002-07, Vol.17 (4), p.808-811

2002

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A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia

Neuroscience letters, 1999-02, Vol.260 (3), p.181-184

1999

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A Unique Origin and Multistep Process for the Generation of Expanded DRPLA Triplet Repeats

Human molecular genetics, 1996-03, Vol.5 (3), p.373-379

1996

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No association between apolipoprotein E alleles and olivopontocerebellar atrophy

Journal of the neurological sciences, 1998-06, Vol.158 (1), p.110-112

1998

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Mutations of optineurin in amyotrophic lateral sclerosis

DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Correction to: DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A

Brain-derived growth factor and nerve growth factor concentrations are decreased in the substantia nigra in Parkinson's disease

Multiple Proteinopathies in Familial ALS Cases With Optineurin Mutations

C-terminal mutations in SYNE1 are associated with motor neuron disease in patients with SCAR8

Triggering of neuronal cell death by accumulation of activated SEK1 on nuclear polyglutamine aggregations in PML bodies

Clinicopathologic study on an ALS family with a heterozygous E478G optineurin mutation

Expression of Kruppel-like factor 5 gene in human brain and association of the gene with the susceptibility to schizophrenia

Possible reduced penetrance of expansion of 44 to 47 CAG/CAA repeats in the TATA-binding protein gene in spinocerebellar ataxia type 17

Phenotypic heterogeneity within a new family with the MAPT p301s mutation

SCA8 Repeat Expansion: Large CTA/CTG Repeat Alleles Are More Common in Ataxic Patients, Including Those with SCA6

Anticipation in hereditary dentatorubral-pallidoluysian atrophy

Contribution of the interleukin-1β gene polymorphism in multiple system atrophy

Molecular Features of the CAG Repeats of Spinocerebellar Ataxia 6 (SCA6)

Transgenic Mice Harboring a Full-Length Human Mutant DRPLA Gene Exhibit Age-Dependent Intergenerational and Somatic Instabilities of CAG repeats Comparable with Those in DRPLA patients

Phenotypic heterogeneity within a new family with the MAPT P501S mutation

The Effect of tau genotype on clinical features in FTDP-17

A single nucleotide polymorphism of dopamine transporter gene is associated with Parkinson's disease

Somatic mosaicism of CAG repeat in dentatorubral-pallidoluysian atrophy (DRPLA)

Contribution of the interleukin-1b gene polymorphism in multiple system atrophy

Contribution of the interleukin-1beta gene polymorphism in multiple system atrophy

A novel missense mutant inactivates GTP cyclohydrolase I in dopa-responsive dystonia

A Unique Origin and Multistep Process for the Generation of Expanded DRPLA Triplet Repeats

No association between apolipoprotein E alleles and olivopontocerebellar atrophy

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