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Identification of TMEM230 mutations in familial Parkinson's disease

Nature genetics, 2016-07, Vol.48 (7), p.733-739

2016

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Convergence of miRNA expression profiling, α-synuclein interacton and GWAS in Parkinson's disease

PloS one, 2011-10, Vol.6 (10), p.e25443-e25443

2011

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Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons

Scientific reports, 2018-05, Vol.8 (1), p.8423-15, Article 8423

2018

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Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease

Annals of human genetics, 2010-03, Vol.74 (2), p.97-109

2010

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Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2

Annals of neurology, 2012-03, Vol.71 (3), p.370-384

2012

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Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Nature genetics, 2004-05, Vol.36 (5), p.449-451

2004

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Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

The Journal of clinical investigation, 2012-02, Vol.122 (2), p.538-544

2012

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Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation

PLoS genetics, 2012-06, Vol.8 (6), p.e1002794

2012

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Notch activation induces endothelial cell senescence and pro-inflammatory response: Implication of Notch signaling in atherosclerosis

Atherosclerosis, 2012-12, Vol.225 (2), p.296-303

2012

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Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness

BMC biology, 2022-02, Vol.20 (1), p.40-40, Article 40

2022

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Pesticide exposure and risk of Parkinson's disease: a family-based case-control study

BMC neurology, 2008-03, Vol.8 (1), p.6-6, Article 6

2008

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A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Human mutation, 2013-01, Vol.34 (1), p.191-199

2013

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Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities

PLoS genetics, 2010-09, Vol.6 (9), p.e1001130-e1001130

2010

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A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

Molecular autism, 2011-01, Vol.2 (1), p.1-1, Article 1

2011

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Molecular markers of early Parkinson's disease based on gene expression in blood

Proceedings of the National Academy of Sciences - PNAS, 2007-01, Vol.104 (3), p.955-960

2007

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Generation of two iPSC lines (UMi038-A & UMi039-A) from siblings bearing an Alzheimer’s disease-associated variant in SORL1

Stem cell research, 2022-07, Vol.62, p.102823-102823, Article 102823

2022

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Generation of an induced pluripotent stem cell line (UMi043-A) from an African American patient with Alzheimer’s disease carrying an ABCA7 deletion (p.Arg578Alafs)

Stem cell research, 2024-04, Vol.76, p.103364-103364, Article 103364

2024

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Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31

American journal of human genetics, 2006-08, Vol.79 (2), p.365-369

2006

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Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer’s disease risk variant p.S1038C in the TTC3 gene

Stem cell research, 2021-04, Vol.52, p.102258-102258, Article 102258

2021

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Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells

Neuroscience letters, 2012-05, Vol.516 (1), p.9-14

2012

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Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Nature genetics, 2005-03, Vol.37 (3), p.289-294

2005

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Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease

CNS & neurological disorders drug targets, 2012-06, Vol.11 (4), p.469

2012

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Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach

PloS one, 2011-02, Vol.6 (2), p.e16917-e16917

2011

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hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells

Molecular and cellular neuroscience, 2015-09, Vol.68, p.244-257

2015

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Identification of TMEM230 mutations in familial Parkinson's disease

Convergence of miRNA expression profiling, α-synuclein interacton and GWAS in Parkinson's disease

Convergent Pathways in Idiopathic Autism Revealed by Time Course Transcriptomic Analysis of Patient-Derived Neurons

Genome‐Wide Association Study Confirms SNPs in SNCA and the MAPT Region as Common Risk Factors for Parkinson Disease

Meta-analysis of Parkinson's Disease: Identification of a novel locus, RIT2

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

Mutations in the ER-shaping protein reticulon 2 cause the axon-degenerative disorder hereditary spastic paraplegia type 12

Genome-wide gene-environment study identifies glutamate receptor gene GRIN2A as a Parkinson's disease modifier gene via interaction with coffee

Gene expression profiles in Parkinson disease prefrontal cortex implicate FOXO1 and genes under its transcriptional regulation

Notch activation induces endothelial cell senescence and pro-inflammatory response: Implication of Notch signaling in atherosclerosis

Mutant C. elegans mitofusin leads to selective removal of mtDNA heteroplasmic deletions across generations to maintain fitness

Pesticide exposure and risk of Parkinson's disease: a family-based case-control study

A Loss-of-Function Variant in the Human Histidyl-tRNA Synthetase (HARS) Gene is Neurotoxic In Vivo

Dementia revealed: novel chromosome 6 locus for late-onset Alzheimer disease provides genetic evidence for folate-pathway abnormalities

A noise-reduction GWAS analysis implicates altered regulation of neurite outgrowth and guidance in autism

Molecular markers of early Parkinson's disease based on gene expression in blood

Generation of two iPSC lines (UMi038-A & UMi039-A) from siblings bearing an Alzheimer’s disease-associated variant in SORL1

Generation of an induced pluripotent stem cell line (UMi043-A) from an African American patient with Alzheimer’s disease carrying an ABCA7 deletion (p.Arg578Alafs)

Mutations in the Novel Mitochondrial Protein REEP1 Cause Hereditary Spastic Paraplegia Type 31

Derivation of stem cell line UMi028-A-2 containing a CRISPR/Cas9 induced Alzheimer’s disease risk variant p.S1038C in the TTC3 gene

Derivation of autism spectrum disorder-specific induced pluripotent stem cells from peripheral blood mononuclear cells

Mutations in the pleckstrin homology domain of dynamin 2 cause dominant intermediate Charcot-Marie-Tooth disease

Tyrosine hydroxylase gene: another piece of the genetic puzzle of Parkinson's disease

Identifying consensus disease pathways in Parkinson's disease using an integrative systems biology approach

hVGAT-mCherry: A novel molecular tool for analysis of GABAergic neurons derived from human pluripotent stem cells

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