Bilimsel Makale Arama | NeuralCipher AI

Kaynak kaydı

LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews.

Dagan E, Schlesinger I, Kurolap A, Ayoub M, Nassar M, Peretz-Aharon J, Gershoni-Baruch R.

Dement Geriatr Cogn Disord · 2016-07-23

DOI: 10.1159/000447450PMID: 27449028

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Derivation, Characterization, and Neural Differentiation of Integration-Free Induced Pluripotent Stem Cell Lines from Parkinson's Disease Patients Carrying SNCA, LRRK2, PARK2, and GBA Mutations.

Momcilovic O, Sivapatham R, Oron TR, Meyer M, Mooney S, Rao MS, Zeng X.

PLoS One · 2016-05-18

DOI: 10.1371/journal.pone.0154890PMID: 27191603

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The contribution of mutant GBA to the development of Parkinson disease in Drosophila.

Maor G, Cabasso O, Krivoruk O, Rodriguez J, Steller H, Segal D, Horowitz M.

Hum Mol Genet · 2016-05-09

DOI: 10.1093/hmg/ddw129PMID: 27162249

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The GBA, DYRK1A and MS4A6A polymorphisms influence the age at onset of Chinese Parkinson patients.

Fan K, Tang BS, Wang YQ, Kang JF, Li K, Liu ZH, Sun QY, Xu Q, Yan XX, Guo JF.

Neurosci Lett · 2016-04-13

DOI: 10.1016/j.neulet.2016.04.014PMID: 27085534

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ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.

Fernandes HJ, Hartfield EM, Christian HC, Emmanoulidou E, Zheng Y, Booth H, Bogetofte H, Lang C, Ryan BJ, Sardi SP, Badger J, Vowles J, Evetts S, Tofaris GK, Vekrellis K, Talbot K, Hu MT, James W, Cowley SA, Wade-Martins R.

Stem Cell Reports · 2016-02-18

DOI: 10.1016/j.stemcr.2016.01.013PMID: 26905200

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Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.

Ortega RA, Torres PA, Swan M, Nichols W, Boschung S, Raymond D, Barrett MJ, Johannes BA, Severt L, Shanker V, Hunt AL, Bressman S, Pastores GM, Saunders-Pullman R.

J Clin Neurosci · 2016-02-05

DOI: 10.1016/j.jocn.2015.12.004PMID: 26857292

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Clinical studies of GBA1-associated parkinsonism: progress and challenges.

Lopez G, Monestime G, Sidransky E.

Neurodegener Dis Manag · 2016-01-01

DOI: 10.2217/nmt.15.68PMID: 26782311

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Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M, Anderson DG, Grobler AF.

Neurochem Int · 2015-12-30

DOI: 10.1016/j.neuint.2015.12.004PMID: 26743617

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Endoplasmic reticulum and lysosomal Ca²⁺ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts.

Kilpatrick BS, Magalhaes J, Beavan MS, McNeill A, Gegg ME, Cleeter MW, Bloor-Young D, Churchill GC, Duchen MR, Schapira AH, Patel S.

Cell Calcium · 2015-11-26

DOI: 10.1016/j.ceca.2015.11.002PMID: 26691915

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GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?

Pilotto A, Schulte C, Hauser AK, Biskup S, Munz M, Brockmann K, Schaeffer E, Synofzik M, Maetzler W, Suenkel U, Srulijes K, Gasser T, Berg D.

Eur J Neurol · 2015-11-09

DOI: 10.1111/ene.12894PMID: 26549049

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An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease.

Török R, Zádori D, Török N, Csility É, Vécsei L, Klivényi P.

Neurosci Lett · 2015-11-04

DOI: 10.1016/j.neulet.2015.11.001PMID: 26547032

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Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression.

Davis AA, Andruska KM, Benitez BA, Racette BA, Perlmutter JS, Cruchaga C.

Neurobiol Aging · 2015-09-30

DOI: 10.1016/j.neurobiolaging.2015.09.014PMID: 26601739

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404 makale bulundu

LRRK2, GBA and SMPD1 Founder Mutations and Parkinson's Disease in Ashkenazi Jews.

Derivation, Characterization, and Neural Differentiation of Integration-Free Induced Pluripotent Stem Cell Lines from Parkinson's Disease Patients Carrying SNCA, LRRK2, PARK2, and GBA Mutations.

The contribution of mutant GBA to the development of Parkinson disease in Drosophila.

The GBA, DYRK1A and MS4A6A polymorphisms influence the age at onset of Chinese Parkinson patients.

ER Stress and Autophagic Perturbations Lead to Elevated Extracellular α-Synuclein in GBA-N370S Parkinson's iPSC-Derived Dopamine Neurons.

Glucocerebrosidase enzyme activity in GBA mutation Parkinson's disease.

Clinical studies of GBA1-associated parkinsonism: progress and challenges.

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Endoplasmic reticulum and lysosomal Ca²⁺ stores are remodelled in GBA1-linked Parkinson disease patient fibroblasts.

GBA-associated parkinsonism and dementia: beyond α-synucleinopathies?

An assessment of the frequency of mutations in the GBA and VPS35 genes in Hungarian patients with sporadic Parkinson's disease.

Variants in GBA, SNCA, and MAPT influence Parkinson disease risk, age at onset, and progression.

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