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Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor

PloS one, 2014-11, Vol.9 (11), p.e111989

2014

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Early-Onset Parkinson Disease Screening in Patients From Nigeria

Frontiers in neurology, 2021-01, Vol.11, p.594927-594927

2021

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Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

Mayo Clinic proceedings, 2015-03, Vol.90 (3), p.366-371

2015

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Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome

Amyotrophic lateral sclerosis and frontotemporal degeneration, 2023-05, Vol.24 (3-4), p.347-350

2023

Volltextzugriff (PDF)

Crohn’s and Parkinson’s Disease-Associated LRRK2 Mutations Alter Type II Interferon Responses in Human CD14+ Blood Monocytes Ex Vivo

Journal of neuroimmune pharmacology, 2020-12, Vol.15 (4), p.794-800

2020

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Screening of GBA Mutations in Nigerian Patients with Parkinson's Disease

Movement disorders, 2021-12, Vol.36 (12), p.2971-2973

2021

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Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis

International journal of molecular sciences, 2022-06, Vol.23 (13), p.7086

2022

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Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells

Molecular neurodegeneration, 2015-09, Vol.10 (1), p.46-46, Article 46

2015

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A novel tau mutation, p.K317N, causes globular glial tauopathy

Acta neuropathologica, 2015-08, Vol.130 (2), p.199-214

2015

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SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Neurogenetics, 2014-03, Vol.15 (1), p.23-30

2014

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Spinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy

Neurologia i neurochirurgia polska, 2020-01, Vol.54 (4), p.350-355

2020

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Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia

Acta neuropathologica, 2013-03, Vol.125 (3), p.425-438

2013

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Are Parkinson disease patients protected from some but not all cancers?

Neurology, 2008-11, Vol.71 (20), p.1650; author reply 1650

2008

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TRIO gene segregation in a family with cerebellar ataxia

Neurologia i neurochirurgia polska, 2018-11, Vol.52 (6), p.743-749

2018

Volltextzugriff (PDF)

MR imaging of brainstem atrophy in progressive supranuclear palsy

Journal of neurology, 2008-01, Vol.255 (1), p.37-44

2008

Volltextzugriff (PDF)

Brainstem atrophy on routine MR study in pallidopontonigral degeneration

Journal of neurology, 2009-05, Vol.256 (5), p.827-829

2009

Volltextzugriff (PDF)

Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type I

Mayo Clinic proceedings, 2015-03, Vol.90 (3), p.366

2015

Volltextzugriff (PDF)

Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome

Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 2023, Vol.24 (3-4), p.347-350

2023

Volltextzugriff (PDF)

Brainstem atrophy on routine MR study in pallidopontonigral degeneration

Journal of neurology, 2009, Vol.256 (5), p.827-829

2009

Volltextzugriff (PDF)

PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation

Brain (London, England : 1878), 2005-12, Vol.128 (12), p.2777-2785

2005

Volltextzugriff (PDF)

Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

European journal of neurology, 2021-12, Vol.28 (12), p.4010-4021

2021

Volltextzugriff (PDF)

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction

PloS one, 2016-11, Vol.11 (11), p.e0165112-e0165112

2016

Volltextzugriff (PDF)

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Annals of neurology, 2011-05, Vol.69 (5), p.778-792

2011

Volltextzugriff (PDF)

Anatomy of disturbed sleep in pallido-ponto-nigral degeneration

Annals of neurology, 2011-06, Vol.69 (6), p.1014-1025

2011

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Analysis of nuclear export sequence regions of FUS-Related RNA-binding proteins in essential tremor

Early-Onset Parkinson Disease Screening in Patients From Nigeria

Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type 1

Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome

Crohn’s and Parkinson’s Disease-Associated LRRK2 Mutations Alter Type II Interferon Responses in Human CD14+ Blood Monocytes Ex Vivo

Screening of GBA Mutations in Nigerian Patients with Parkinson's Disease

Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis

Mitochondrial targeting sequence variants of the CHCHD2 gene are a risk for Lewy body disorders

Frontotemporal dementia-associated N279K tau mutant disrupts subcellular vesicle trafficking and induces cellular stress in iPSC-derived neural stem cells

A novel tau mutation, p.K317N, causes globular glial tauopathy

SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia

Spinocerebellar ataxia type 6 family with phenotypic overlap with Multiple System Atrophy

Sequence variants in eukaryotic translation initiation factor 4-gamma (eIF4G1) are associated with Lewy body dementia

Are Parkinson disease patients protected from some but not all cancers?

TRIO gene segregation in a family with cerebellar ataxia

MR imaging of brainstem atrophy in progressive supranuclear palsy

Brainstem atrophy on routine MR study in pallidopontonigral degeneration

Whole-Exome Sequencing as a Diagnostic Tool in a Family With Episodic Ataxia Type I

Expanding the spectrum of KIF5A mutations-case report of a large kindred with familial ALS and overlapping syndrome

Brainstem atrophy on routine MR study in pallidopontonigral degeneration

PET in LRRK2 mutations: comparison to sporadic Parkinson's disease and evidence for presymptomatic compensation

Clinical, pathological and genetic characteristics of Perry disease—new cases and literature review

Assessment of Olfactory Function in MAPT-Associated Neurodegenerative Disease Reveals Odor-Identification Irreproducibility as a Non-Disease-Specific, General Characteristic of Olfactory Dysfunction

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease

Anatomy of disturbed sleep in pallido-ponto-nigral degeneration

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