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Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder

Sleep medicine, 2013-08, Vol.14 (8), p.754-762

2013

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A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease

Neuroscience, 2007-07, Vol.147 (4), p.1047-1058

2007

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1.1.3 AUTOSOMAL DOMINANT PARKINSON'S DISEASE

Parkinsonism & related disorders, 2012-01, Vol.18, p.S1-S1

Wszolek, Z.K

2012

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Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family

Parkinsonism & related disorders, 2008-08, Vol.14 (6), p.465-470

2008

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1.106 ASSOCIATION OF ESSENTIAL TREMOR AND PARKINSON'S DISEASE IN FAMILIES: A CLINICAL INVESTIGATION LINKING THE TWO

Parkinsonism & related disorders, 2012, Vol.18, p.S36-S36

2012

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Phenotypic manifestations of KIF5A Arg1007Lys mutation: A large kindred study

Parkinsonism & related disorders, 2024-05, Vol.122, p.106155, Article 106155

2024

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1.266 WHOLE-EXOME CAPTURE AND NEXT-GEN SEQUENCING IN FAMILIAL ADULT-ONSET PRIMARY CERVICAL DYSTONIA

Parkinsonism & related disorders, 2012, Vol.18, p.S63-S63

2012

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Global presence of CSF1R-Related disorder: A case series from North and South America, Asia and Europe

Parkinsonism & related disorders, 2024-05, Vol.122, p.106647, Article 106647

2024

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1.267 THE GENOTYPIC-PHENOTYPIC SPECTRUM OF THAP1 DYSTONIA: SYSTEMATIC REVIEW AND DESCRIPTION OF NEW CASES

Parkinsonism & related disorders, 2012, Vol.18, p.S63-S64

2012

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Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

American journal of neuroradiology : AJNR, 2017-01, Vol.38 (1), p.77-83

2017

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Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia

Parkinsonism & Related Disorders, 2023-08, Vol.113 (Supp), p.28

2023

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L-Dopa responsiveness in Perry syndrome (parkinsonism, depression, weight loss, hypoventilation)

Parkinsonism & related disorders, 2023-08, Vol.113

2023

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Altered functional connectivity in asymptomatic MAPT subjects: a comparison to bvFTD

Neurology, 2011-08, Vol.77 (9), p.866-874

2011

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TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

Neurology, 2011-02, Vol.76 (5), p.467-474

2011

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PLA2G6-associated neurodegeneration in three different populations-case series

Parkinsonism & related disorders, 2023-08, Vol.113

2023

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Iron in Alzheimer's and Control Hippocampi - Mössbauer, Atomic Absorption and ELISA Studies

Acta physica Polonica, A, 2011-01, Vol.119 (1), p.81-83

2011

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Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

Neurology, 2011-09, Vol.77 (11), p.1102-1103

2011

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MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy

Neurology, 2011-02, Vol.76 (7), p.670-672

2011

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Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease

Neurology, 2008-04, Vol.70 (16 Pt 2), p.1456-1460

2008

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Familial dystonia with cerebral calcification: case report and genetic update

Canadian journal of neurological sciences, 2015-12, Vol.42 (S3), p.S2-S3

2015

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MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology

Neurology, 2010-08, Vol.75 (9), p.771-778

2010

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Cerebrospinal fluid amyloid β and tau in LRRK2 mutation carriers

Neurology, 2012-01, Vol.78 (1), p.55-61

2012

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Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN

Neurology, 2011-07, Vol.77 (4), p.393-398

2011

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Positron emission tomography in pallido-ponto-nigral degeneration (PPND) family (frontotemporal dementia with parkinsonism linked to chromosome 17 and point mutation in tau gene)

Parkinsonism & related disorders, 2001-04, Vol.7 (2), p.81-88

2001

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The PINK1 p.I368N mutation affects protein stability and disrupts kinase activity

Journal of the neurological sciences, 2017-10, Vol.381, p.214-214

2017

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Clinicopathologic correlations in 172 cases of rapid eye movement sleep behavior disorder with or without a coexisting neurologic disorder

A comparative analysis of leucine-rich repeat kinase 2 (Lrrk2) expression in mouse brain and Lewy body disease

1.1.3 AUTOSOMAL DOMINANT PARKINSON'S DISEASE

Autosomal dominant dopa-responsive parkinsonism in a multigenerational Swiss family

1.106 ASSOCIATION OF ESSENTIAL TREMOR AND PARKINSON'S DISEASE IN FAMILIES: A CLINICAL INVESTIGATION LINKING THE TWO

Phenotypic manifestations of KIF5A Arg1007Lys mutation: A large kindred study

1.266 WHOLE-EXOME CAPTURE AND NEXT-GEN SEQUENCING IN FAMILIAL ADULT-ONSET PRIMARY CERVICAL DYSTONIA

Global presence of CSF1R-Related disorder: A case series from North and South America, Asia and Europe

1.267 THE GENOTYPIC-PHENOTYPIC SPECTRUM OF THAP1 DYSTONIA: SYSTEMATIC REVIEW AND DESCRIPTION OF NEW CASES

Diagnostic Value of Brain Calcifications in Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia

Genomic analyses of a large Swedish multi-incident kindred with autosomal dominant Parkinson’s disease with dementia

L-Dopa responsiveness in Perry syndrome (parkinsonism, depression, weight loss, hypoventilation)

Altered functional connectivity in asymptomatic MAPT subjects: a comparison to bvFTD

TMEM106B regulates progranulin levels and the penetrance of FTLD in GRN mutation carriers

PLA2G6-associated neurodegeneration in three different populations-case series

Iron in Alzheimer's and Control Hippocampi - Mössbauer, Atomic Absorption and ELISA Studies

Novel p.Ile151Val mutation in VCP in a patient of African American descent with sporadic ALS

MAPT H1 haplotype is a risk factor for essential tremor and multiple system atrophy

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease

Familial dystonia with cerebral calcification: case report and genetic update

MRS in presymptomatic MAPT mutation carriers: a potential biomarker for tau-mediated pathology

Cerebrospinal fluid amyloid β and tau in LRRK2 mutation carriers

Trajectories of brain and hippocampal atrophy in FTD with mutations in MAPT or GRN

Positron emission tomography in pallido-ponto-nigral degeneration (PPND) family (frontotemporal dementia with parkinsonism linked to chromosome 17 and point mutation in tau gene)

The PINK1 p.I368N mutation affects protein stability and disrupts kinase activity

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