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CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts

Neurology, 2001-06, Vol.56 (11), p.1552-1558

2001

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Systematic drug sensitivity testing reveals synergistic growth inhibition by dasatinib or mTOR inhibitors with paclitaxel in ovarian granulosa cell tumor cells

Gynecologic oncology, 2017-03, Vol.144 (3), p.621-630

2017

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Cutis laxa in hereditary gelsolin amyloidosis

British journal of dermatology (1951), 2005-02, Vol.152 (2), p.250-257

2005

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Prevalence of Alzheimer's disease in very elderly people: a prospective neuropathological study

Neurology, 2001-06, Vol.56 (12), p.1690-1696

2001

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Contribution of APOE promoter polymorphisms to Alzheimer's disease risk

Neurology, 2002-07, Vol.59 (1), p.59-66

2002

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Muscle-eye-brain disease: A neuropathological study

Annals of neurology, 1997-02, Vol.41 (2), p.173-180

1997

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The normal population distribution of PRNP codon 129 polymorphism

Acta neurologica Scandinavica, 2003-11, Vol.108 (5), p.374-378

2003

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Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease

Neurology, 1997-05, Vol.48 (5), p.1244

1997

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Variant Alzheimer's disease with spastic paraparesis: clinical characterization

Neurology, 2000-03, Vol.54 (5), p.1103-1109

2000

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Amphoterin Includes a Sequence Motif Which Is Homologous to the Alzheimer's β-Amyloid Peptide (Aβ), Forms Amyloid Fibrils in Vitro, and Binds Avidly to Aβ

Biochemistry (Easton), 2001-08, Vol.40 (34), p.10032-10037

2001

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Chromosome 14-encoded Alzheimer's disease: Genetic and clinicopathological description

Annals of neurology, 1994-09, Vol.36 (3), p.362-367

1994

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MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type

Neuroradiology, 1997-05, Vol.39 (5), p.371-377

1997

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Alzheimer disease PS-1 exon 9 deletion defined

Nature medicine, 1999-10, Vol.5 (10), p.1090-1090

1999

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Multiple sclerosis: In situ evidence for antibody- and complement-mediated demyelination

Annals of neurology, 1998-04, Vol.43 (4), p.465-471

1998

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The Expression of Palmitoyl-Protein Thioesterase Is Developmentally Regulated in Neural Tissues but Not in Nonneural Tissues

Molecular genetics and metabolism, 1999-04, Vol.66 (4), p.290-293

1999

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Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic β-amyloid pathology known as 'cotton wool' plaques

Neuropathology and applied neurobiology, 2001-06, Vol.27 (3), p.189-196

2001

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Hippocampal lesions in the neuronal ceroid lipofuscinoses

European journal of paediatric neurology, 2001, Vol.5 Suppl A, p.209-211

2001

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Infantile cerebello-optic atrophy : neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome)

Acta neuropathologica, 1993-02, Vol.85 (3), p.241-247

1993

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A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Nature medicine, 1998-04, Vol.4 (4), p.452-455

1998

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Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme

European journal of paediatric neurology, 2001, Vol.5 Suppl A, p.43-45

2001

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Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

American journal of medical genetics, 1992-02, Vol.42 (4), p.561-567

1992

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Roles of human epididymis protein 4, carbohydrate antigen 125, inhibin B and anti-Müllerian hormone in the differential diagnosis and follow-up of ovarian granulosa cell tumors

Gynecologic oncology, 2017-01, Vol.144 (1), p.83-89

2017

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Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

Clinical genetics, 1991-04, Vol.39 (4), p.287-293

1991

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Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL)

Neuropediatrics, 1997-02, Vol.28 (1), p.49-52

1997

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CNS manifestations of Nasu-Hakola disease: a frontal dementia with bone cysts

Systematic drug sensitivity testing reveals synergistic growth inhibition by dasatinib or mTOR inhibitors with paclitaxel in ovarian granulosa cell tumor cells

Cutis laxa in hereditary gelsolin amyloidosis

Prevalence of Alzheimer's disease in very elderly people: a prospective neuropathological study

Contribution of APOE promoter polymorphisms to Alzheimer's disease risk

The structure of the presenilin 1 ( S182 ) gene and identification of six novel mutations in early onset AD families

Muscle-eye-brain disease: A neuropathological study

The normal population distribution of PRNP codon 129 polymorphism

Autosomal dominant progressive external ophthalmoplegia with multiple deletions of mtDNA: clinical, biochemical, and molecular genetic features of the 10q-linked disease

Variant Alzheimer's disease with spastic paraparesis: clinical characterization

Amphoterin Includes a Sequence Motif Which Is Homologous to the Alzheimer's β-Amyloid Peptide (Aβ), Forms Amyloid Fibrils in Vitro, and Binds Avidly to Aβ

Chromosome 14-encoded Alzheimer's disease: Genetic and clinicopathological description

MRI of neuronal ceroid lipofuscinosis. II. Postmortem MRI and histopathological study of the brain in 16 cases of neuronal ceroid lipofuscinosis of juvenile or late infantile type

Alzheimer disease PS-1 exon 9 deletion defined

Multiple sclerosis: In situ evidence for antibody- and complement-mediated demyelination

The Expression of Palmitoyl-Protein Thioesterase Is Developmentally Regulated in Neural Tissues but Not in Nonneural Tissues

Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic β-amyloid pathology known as 'cotton wool' plaques

Hippocampal lesions in the neuronal ceroid lipofuscinoses

Infantile cerebello-optic atrophy : neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome)

A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1

Congenital ovine neuronal ceroid lipofuscinosis--a cathepsin D deficiency with increased levels of the inactive enzyme

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

Roles of human epididymis protein 4, carbohydrate antigen 125, inhibin B and anti-Müllerian hormone in the differential diagnosis and follow-up of ovarian granulosa cell tumors

Progressive encephalopathy with edema, hypsarrhythmia, and optic atrophy (PEHO syndrome)

Sphingolipid activator proteins (SAPs) in neuronal ceroid lipofuscinoses (NCL)

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