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Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?

Neuroscience letters, 2019-01, Vol.688, p.49-57

2019

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Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

Brain (London, England : 1878), 2017-11, Vol.140 (11), p.2860-2878

2017

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Comprehensive analysis of genetic risk loci uncovers novel candidate genes and pathways in the comorbidity between depression and Alzheimer’s disease

Translational psychiatry, 2024-06, Vol.14 (1), p.253-8

2024

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Parkinson's disease-associated VPS35 mutant reduces mitochondrial membrane potential and impairs PINK1/Parkin-mediated mitophagy

Translational neurodegeneration, 2021-06, Vol.10 (1), p.19-19, Article 19

2021

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A Gain‐of‐Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype

Movement disorders, 2021-03, Vol.36 (3), p.729-739

2021

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Spinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration

Neurobiology of disease, 2017-12, Vol.108, p.148-158

2017

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Corrigendum to “Spinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration” [Neurobiol. Dis. 2017 Dec 108 148–158]

Neurobiology of disease, 2018-08, Vol.116, p.179-179

2018

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Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19

Annals of neurology, 2012-12, Vol.72 (6), p.870-880

2012

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Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function

Cell reports (Cambridge), 2017-08, Vol.20 (9), p.2100-2115

2017

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Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders

Brain sciences, 2023-11, Vol.13 (12), p.1625

2023

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Cross-species analysis uncovers the mitochondrial stress response in the hippocampus as a shared mechanism in mouse early life stress and human depression

Neurobiology of stress, 2024-07, Vol.31, p.100643-100643, Article 100643

2024

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Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants

NPJ Parkinson's Disease, 2021-12, Vol.7 (1), p.113-113, Article 113

2021

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Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

American journal of human genetics, 2010-11, Vol.87 (5), p.593-603

2010

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Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

Frontiers in genetics, 2022-03, Vol.13, p.782685-782685

2022

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Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

Cellular and molecular life sciences : CMLS, 2015-09, Vol.72 (17), p.3387-3399

2015

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Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases

PloS one, 2015-03, Vol.10 (3), p.e0116599-e0116599

2015

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Reduced expression of C/EBPβ-LIP extends health and lifespan in mice

eLife, 2018-06, Vol.7

2018

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Cortical pencil lining on SWI MRI in NBIA and healthy aging

BMC neurology, 2019-10, Vol.19 (1), p.233-233, Article 233

2019

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Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

Molecular brain, 2021-01, Vol.14 (1), p.18-18, Article 18

2021

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Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

Diagnostics (Basel), 2020-11, Vol.10 (12), p.997

2020

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WDR45, one gene associated with multiple neurodevelopmental disorders

Autophagy, 2021-12, Vol.17 (12), p.3908-3923

2021

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Reply: PLD3 and spinocerebellar ataxia

Brain (London, England : 1878), 2018-11, Vol.141 (11), p.e79-e79

2018

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Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases

Journal of neurology, 2013-07, Vol.260 (7), p.1807-1812

2013

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Spinocerebellar Ataxia Type 23: A Genetic Update

Cerebellum (London, England), 2009-06, Vol.8 (2), p.104-107

Verbeek, Dineke S.

2009

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Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain

Biochemical and biophysical research communications, 2011-07, Vol.411 (1), p.111-114

2011

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Why do so many genetic insults lead to Purkinje Cell degeneration and spinocerebellar ataxia?

Exome sequencing and network analysis identifies shared mechanisms underlying spinocerebellar ataxia

Comprehensive analysis of genetic risk loci uncovers novel candidate genes and pathways in the comorbidity between depression and Alzheimer’s disease

Parkinson's disease-associated VPS35 mutant reduces mitochondrial membrane potential and impairs PINK1/Parkin-mediated mitophagy

A Gain‐of‐Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype

Spinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration

Corrigendum to “Spinocerebellar ataxia: miRNAs expose biological pathways underlying pervasive Purkinje cell degeneration” [Neurobiol. Dis. 2017 Dec 108 148–158]

Mutations in potassium channel kcnd3 cause spinocerebellar ataxia type 19

Aberrant Compartment Formation by HSPB2 Mislocalizes Lamin A and Compromises Nuclear Integrity and Function

Pathogenetic Insights into Developmental Coordination Disorder Reveal Substantial Overlap with Movement Disorders

Cross-species analysis uncovers the mitochondrial stress response in the hippocampus as a shared mechanism in mouse early life stress and human depression

Systematic analysis of PINK1 variants of unknown significance shows intact mitophagy function for most variants

Prodynorphin Mutations Cause the Neurodegenerative Disorder Spinocerebellar Ataxia Type 23

Feasibility of Follow-Up Studies and Reclassification in Spinocerebellar Ataxia Gene Variants of Unknown Significance

Spinocerebellar ataxia type 19/22 mutations alter heterocomplex Kv4.3 channel function and gating in a dominant manner

Functional analysis helps to define KCNC3 mutational spectrum in Dutch ataxia cases

Reduced expression of C/EBPβ-LIP extends health and lifespan in mice

Cortical pencil lining on SWI MRI in NBIA and healthy aging

Rare functional missense variants in CACNA1H: What can we learn from Writer's cramp?

Early Onset Ataxia with Comorbid Dystonia: Clinical, Anatomical and Biological Pathway Analysis Expose Shared Pathophysiology

WDR45, one gene associated with multiple neurodevelopmental disorders

Reply: PLD3 and spinocerebellar ataxia

Identification and characterization of novel PDYN mutations in dominant cerebellar ataxia cases

Spinocerebellar Ataxia Type 23: A Genetic Update

Perturbations of model membranes induced by pathogenic dynorphin A mutants causing neurodegeneration in human brain

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