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Experience in Genetic Counseling for <i>GBA1</i> Variants in Parkinson's Disease.

den Heijer JM, van Hilten JJ, Kievit AJA, Bonifati V, Groeneveld GJ.

Mov Disord Clin Pract · 2020-10-27

DOI: 10.1002/mdc3.13098PMID: 33426156

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Precision medicine in Parkinson's disease patients with LRRK2 and GBA risk variants - Let's get even more personal.

von Linstow CU, Gan-Or Z, Brundin P.

Transl Neurodegener · 2020-10-16

DOI: 10.1186/s40035-020-00218-xPMID: 33066808

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A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants.

Straniero L, Rimoldi V, Melistaccio G, Di Fonzo A, Pezzoli G, Duga S, Asselta R.

Parkinsonism Relat Disord · 2020-09-22

DOI: 10.1016/j.parkreldis.2020.09.036PMID: 32987361

A bibliographic record traceable to Europe PMC. Türkçe başlık: makine çevirisi, editoryal kontrol bekliyor.

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GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes.

Greuel A, Trezzi JP, Glaab E, Ruppert MC, Maier F, Jäger C, Hodak Z, Lohmann K, Ma Y, Eidelberg D, Timmermann L, Hiller K, Tittgemeyer M, Drzezga A, Diederich N, Eggers C.

Mov Disord · 2020-08-27

DOI: 10.1002/mds.28225PMID: 32853481

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Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study.

Balestrino R, Tunesi S, Tesei S, Lopiano L, Zecchinelli AL, Goldwurm S.

Mov Disord · 2020-08-07

DOI: 10.1002/mds.28200PMID: 32767585

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Evaluating the Role of SNCA, LRRK2, and GBA in Chinese Patients With Early-Onset Parkinson's Disease.

Chen Y, Chen Y, Gu X, Ou R, Zhang L, Hou Y, Liu K, Cao B, Wei Q, Li C, Song W, Zhao B, Wu Y, Cheng J, Shang H.

Mov Disord · 2020-07-16

DOI: 10.1002/mds.28191PMID: 32677286

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GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.

Petrucci S, Ginevrino M, Trezzi I, Monfrini E, Ricciardi L, Albanese A, Avenali M, Barone P, Bentivoglio AR, Bonifati V, Bove F, Bonanni L, Brusa L, Cereda C, Cossu G, Criscuolo C, Dati G, De Rosa A, Eleopra R, Fabbrini G, Fadda L, Garbellini M, Minafra B, Onofrj M, Pacchetti C, Palmieri I, Pellecchia MT, Petracca M, Picillo M, Pisani A, Vallelunga A, Zangaglia R, Di Fonzo A, Morgante F, Valente EM, ITA-GENE-PD Study Group.

Mov Disord · 2020-07-13

DOI: 10.1002/mds.28195PMID: 32658388

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Open access

Characterization of a pathogenic variant in GBA for Parkinson's disease with mild cognitive impairment patients.

Jiang Z, Huang Y, Zhang P, Han C, Lu Y, Mo Z, Zhang Z, Li X, Zhao S, Cai F, Huang L, Chen C, Shi Z, Zhang Y, Ling F.

Mol Brain · 2020-07-08

DOI: 10.1186/s13041-020-00637-xPMID: 32641146

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A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.

den Heijer JM, Cullen VC, Quadri M, Schmitz A, Hilt DC, Lansbury P, Berendse HW, van de Berg WDJ, de Bie RMA, Boertien JM, Boon AJW, Contarino MF, van Hilten JJ, Hoff JI, van Mierlo T, Munts AG, van der Plas AA, Ponsen MM, Baas F, Majoor-Krakauer D, Bonifati V, van Laar T, Groeneveld GJ.

Mov Disord · 2020-07-02

DOI: 10.1002/mds.28112PMID: 32618053

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GBA variation and susceptibility to multiple system atrophy.

Wernick AI, Walton RL, Koga S, Soto-Beasley AI, Heckman MG, Gan-Or Z, Ren Y, Rademakers R, Uitti RJ, Wszolek ZK, Cheshire WP, Dickson DW, Ross OA.

Parkinsonism Relat Disord · 2020-06-22

DOI: 10.1016/j.parkreldis.2020.06.007PMID: 32623306

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Open access

Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.

Schierding W, Farrow S, Fadason T, Graham OEE, Pitcher TL, Qubisi S, Davidson AJ, Perry JK, Anderson TJ, Kennedy MA, Cooper A, O'Sullivan JM.

Mov Disord · 2020-06-18

DOI: 10.1002/mds.28144PMID: 32557794

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β-Glucocerebrosidase activity in <i>GBA</i>-linked Parkinson disease: The type of mutation matters.

Huh YE, Chiang MSR, Locascio JJ, Liao Z, Liu G, Choudhury K, Kuras YI, Tuncali I, Videnovic A, Hunt AL, Schwarzschild MA, Hung AY, Herrington TM, Hayes MT, Hyman BT, Wills AM, Gomperts SN, Growdon JH, Sardi SP, Scherzer CR.

Neurology · 2020-06-15

DOI: 10.1212/wnl.0000000000009989PMID: 32540937

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Records come from scientific sources. Bibliographic counts do not represent completed translations or editorial approvals.

430 articles found

Experience in Genetic Counseling for <i>GBA1</i> Variants in Parkinson's Disease.

Precision medicine in Parkinson's disease patients with LRRK2 and GBA risk variants - Let's get even more personal.

A rapid and low-cost test for screening the most common Parkinson's disease-related GBA variants.

GBA Variants in Parkinson's Disease: Clinical, Metabolomic, and Multimodal Neuroimaging Phenotypes.

Penetrance of Glucocerebrosidase (GBA) Mutations in Parkinson's Disease: A Kin Cohort Study.

Evaluating the Role of SNCA, LRRK2, and GBA in Chinese Patients With Early-Onset Parkinson's Disease.

GBA-Related Parkinson's Disease: Dissection of Genotype-Phenotype Correlates in a Large Italian Cohort.

Characterization of a pathogenic variant in GBA for Parkinson's disease with mild cognitive impairment patients.

A Large-Scale Full GBA1 Gene Screening in Parkinson's Disease in the Netherlands.

GBA variation and susceptibility to multiple system atrophy.

Common Variants Coregulate Expression of GBA and Modifier Genes to Delay Parkinson's Disease Onset.

β-Glucocerebrosidase activity in <i>GBA</i>-linked Parkinson disease: The type of mutation matters.

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