Associated Papers
Frequency enrichment of coding variants in a French-Canadian founder population and its implication for inflammatory bowel diseases.
Bhérer C et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Analysis of rare Parkinson's disease variants in millions of people.
Pitz V et al.
Npj Parkinson's Disease, 2024
Synucleinopathies: Intrinsic and Extrinsic Factors.
Lomeli-Lepe AK et al.
Cell Biochemistry and Biophysics, 2023
Analysis of rare Parkinson's disease variants in millions of people.
Pitz V et al.
Research Square, 2023
Intragenic β-synuclein rearrangements in malignancy.
Xiao P et al.
Frontiers in Oncology, 2023
Routine Diagnostics Confirm Novel Neurodevelopmental Disorders.
Jauss RT et al.
Genes, 2022
Excess membrane binding of monomeric alpha-, beta- and gamma-synuclein is invariably associated with inclusion formation and toxicity.
Kim TE et al.
Human Molecular Genetics, 2021
Structural and Functional Insights into α-Synuclein Fibril Polymorphism.
Mehra S et al.
Biomolecules, 2021
Dementia with Lewy bodies-associated ß-synuclein mutations V70M and P123H cause mutation-specific neuropathological lesions.
Psol M et al.
Human Molecular Genetics, 2021
Genetics of synucleins in neurodegenerative diseases.
Brás J et al.
Acta Neuropathologica, 2021
Therapeutic Potential of α-Synuclein Evolvability for Autosomal Recessive Parkinson's Disease.
Wei J et al.
Parkinson's Disease, 2021
Effect of Disease-Associated P123H and V70M Mutations on β-Synuclein Fibrillation.
Sharma K et al.
Acs Chemical Neuroscience, 2020
Genetic architecture of common non-Alzheimer's disease dementias.
Guerreiro R et al.
Neurobiology of Disease, 2020
Possible Role of Amyloidogenic Evolvability in Dementia with Lewy Bodies: Insights from Transgenic Mice Expressing P123H β-Synuclein.
Fujita M et al.
International Journal of Molecular Sciences, 2020
The GenomeAsia 100K Project enables genetic discoveries across Asia.
Unknown Author
Nature, 2019
Ibuprofen enhances synaptic function and neural progenitors proliferation markers and improves neuropathology and motor coordination in Machado-Joseph disease models.
Mendonça LS et al.
Human Molecular Genetics, 2019
Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.
Capalbo A et al.
Plos Genetics, 2019
A novel missense mutation in the MYH7 gene causes an uncharacteristic phenotype of myosin storage myopathy: a case report.
Mamelona J et al.
Bmc Medical Genetics, 2019
The genetics of dementia with Lewy bodies.
Tolea MI et al.
Handbook of Clinical Neurology, 2018
An update on the genetics of dementia with Lewy bodies.
Vergouw LJM et al.
Parkinsonism & Related Disorders, 2017
Molecular Genetics of Neurodegenerative Dementias.
Hinz FI et al.
Cold Spring Harbor Perspectives in Biology, 2017
Yeast reveals similar molecular mechanisms underlying alpha- and beta-synuclein toxicity.
Tenreiro S et al.
Human Molecular Genetics, 2016
The loss of inhibitory C-terminal conformations in disease associated P123H β-synuclein.
Janowska MK et al.
Protein Science : a Publication of the Protein Society, 2016
Diversity of mitochondrial pathology in a mouse model of axonal degeneration in synucleinopathies.
Sekigawa A et al.
Oxidative Medicine and Cellular Longevity, 2013
New brain-specific beta-synuclein isoforms show expression ratio changes in Lewy body diseases.
Beyer K et al.
Neurogenetics, 2012
Possible alterations in β-Synuclein, the non-amyloidogenic homologue of α-Synuclein, during progression of sporadic α-synucleinopathies.
Fujita M et al.
International Journal of Molecular Sciences, 2012
Bridging molecular genetics and biomarkers in lewy body and related disorders.
Ho GJ et al.
International Journal of Alzheimer's Disease, 2011
The decrease of β-synuclein in cortical brain areas defines a molecular subgroup of dementia with Lewy bodies.
Beyer K et al.
Brain : a Journal of Neurology, 2010
A β-synuclein mutation linked to dementia produces neurodegeneration when expressed in mouse brain.
Fujita M et al.
Nature Communications, 2010
Association of alpha-, beta-, and gamma-Synuclein with diffuse lewy body disease.
Nishioka K et al.
Archives of Neurology, 2010
Gangliosides' protection against lysosomal pathology of synucleinopathies.
Wei J et al.
Autophagy, 2009
Neurotoxic conversion of beta-synuclein: a novel approach to generate a transgenic mouse model of synucleinopathies?
Fujita M et al.
Journal of Neurology, 2009
Protective role of endogenous gangliosides for lysosomal pathology in a cellular model of synucleinopathies.
Wei J et al.
The American Journal of Pathology, 2009
Early-onset familial lewy body dementia with extensive tauopathy: a clinical, genetic, and neuropathological study.
Clarimón J et al.
Journal of Neuropathology and Experimental Neurology, 2009
Recent advances in the genetics of dementia with lewy bodies.
Bonifati V
Current Neurology and Neuroscience Reports, 2008
Enhanced lysosomal pathology caused by beta-synuclein mutants linked to dementia with Lewy bodies.
Wei J et al.
The Journal of Biological Chemistry, 2007
A novel locus for dementia with Lewy bodies: a clinically and genetically heterogeneous disorder.
Bogaerts V et al.
Brain : a Journal of Neurology, 2007
Chaperone and anti-chaperone: two-faced synuclein as stimulator of synaptic evolution.
Fujita M et al.
Neuropathology : Official Journal of the Japanese Society of Neuropathology, 2006
Pathophysiology of synuclein aggregation in Lewy body disease.
Mukaetova-Ladinska EB et al.
Mechanisms of Ageing and Development, 2006
Beta-synuclein gene alterations in dementia with Lewy bodies.
Ohtake H et al.
Neurology, 2004
Genetics in degenerative dementia: current status and applicability.
Bruni AC et al.
Alzheimer Disease and Associated Disorders, 0