Mullin S - Search Results

1

Trio approach reveals higher risk of PD in carriers of severe vs. mild GBA mutations.

Arkadir D, Dinur T, Mullin S, Mehta A, Baris HN, Alcalay RN, Zimran A. Arkadir D, et al. Among authors: mullin s. Blood Cells Mol Dis. 2018 Feb;68:115-116. doi: 10.1016/j.bcmd.2016.11.007. Epub 2016 Nov 12. Blood Cells Mol Dis. 2018. PMID: 27864021

2

Neurological effects of glucocerebrosidase gene mutations.

Mullin S, Hughes D, Mehta A, Schapira AHV. Mullin S, et al. Eur J Neurol. 2019 Mar;26(3):388-e29. doi: 10.1111/ene.13837. Epub 2018 Dec 13. Eur J Neurol. 2019. PMID: 30315684 Free PMC article. Review.

3

Brain Microglial Activation Increased in Glucocerebrosidase (GBA) Mutation Carriers without Parkinson's disease.

Mullin S, Stokholm MG, Hughes D, Mehta A, Parbo P, Hinz R, Pavese N, Brooks DJ, Schapira AHV. Mullin S, et al. Mov Disord. 2021 Mar;36(3):774-779. doi: 10.1002/mds.28375. Epub 2020 Dec 5. Mov Disord. 2021. PMID: 33278043 Free PMC article.

4

Evolution of prodromal parkinsonian features in a cohort of GBA mutation-positive individuals: a 6-year longitudinal study.

Avenali M, Toffoli M, Mullin S, McNeil A, Hughes DA, Mehta A, Blandini F, Schapira AHV. Avenali M, et al. Among authors: mullin s. J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1091-1097. doi: 10.1136/jnnp-2019-320394. Epub 2019 Jun 20. J Neurol Neurosurg Psychiatry. 2019. PMID: 31221723

5

Evolution and clustering of prodromal parkinsonian features in GBA1 carriers.

Mullin S, Beavan M, Bestwick J, McNeill A, Proukakis C, Cox T, Hughes D, Mehta A, Zetterberg H, Schapira AHV. Mullin S, et al. Mov Disord. 2019 Sep;34(9):1365-1373. doi: 10.1002/mds.27775. Epub 2019 Jun 28. Mov Disord. 2019. PMID: 31251436 Free PMC article.

6

Evaluation of the detection of GBA missense mutations and other variants using the Oxford Nanopore MinION.

Leija-Salazar M, Sedlazeck FJ, Toffoli M, Mullin S, Mokretar K, Athanasopoulou M, Donald A, Sharma R, Hughes D, Schapira AHV, Proukakis C. Leija-Salazar M, et al. Among authors: mullin s. Mol Genet Genomic Med. 2019 Mar;7(3):e564. doi: 10.1002/mgg3.564. Epub 2019 Jan 13. Mol Genet Genomic Med. 2019. PMID: 30637984 Free PMC article.

7

Comprehensive short and long read sequencing analysis for the Gaucher and Parkinson's disease-associated GBA gene.

Toffoli M, Chen X, Sedlazeck FJ, Lee CY, Mullin S, Higgins A, Koletsi S, Garcia-Segura ME, Sammler E, Scholz SW, Schapira AHV, Eberle MA, Proukakis C. Toffoli M, et al. Among authors: mullin s. Commun Biol. 2022 Jul 6;5(1):670. doi: 10.1038/s42003-022-03610-7. Commun Biol. 2022. PMID: 35794204 Free PMC article.

8

Intronic Haplotypes in the GBA Gene Do Not Predict Age at Diagnosis of Parkinson's Disease.

Toffoli M, Higgins A, Lee C, Koletsi S, Chen X, Eberle M, Sedlazeck FJ, Mullin S, Proukakis C, Schapira AHV. Toffoli M, et al. Among authors: mullin s. Mov Disord. 2021 Jun;36(6):1456-1460. doi: 10.1002/mds.28616. Epub 2021 May 19. Mov Disord. 2021. PMID: 34008887 Free PMC article.

9

The remote assessment of parkinsonism supporting the ongoing development of interventions in Gaucher disease.

Higgins AL, Toffoli M, Mullin S, Lee CY, Koletsi S, Avenali M, Blandini F, Schapira AH. Higgins AL, et al. Among authors: mullin s. Neurodegener Dis Manag. 2021 Dec;11(6):451-458. doi: 10.2217/nmt-2021-0032. Epub 2021 Oct 20. Neurodegener Dis Manag. 2021. PMID: 34666501 Free article.

10

Insights into the structural biology of Gaucher disease.

Smith L, Mullin S, Schapira AHV. Smith L, et al. Among authors: mullin s. Exp Neurol. 2017 Dec;298(Pt B):180-190. doi: 10.1016/j.expneurol.2017.09.010. Epub 2017 Sep 18. Exp Neurol. 2017. PMID: 28923368 Review.

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