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Items: 1 to 50 of 447

1.

The biochemical basis of interactions between Glucocerebrosidase and alpha-synuclein in GBA1 mutation carriers.

Toffoli M, Smith L, Schapira AHV.

J Neurochem. 2020 Jan 22. doi: 10.1111/jnc.14968. [Epub ahead of print] Review.

PMID:
31965564
2.

Ambroxol for the Treatment of Patients With Parkinson Disease With and Without Glucocerebrosidase Gene Mutations: A Nonrandomized, Noncontrolled Trial.

Mullin S, Smith L, Lee K, D'Souza G, Woodgate P, Elflein J, Hällqvist J, Toffoli M, Streeter A, Hosking J, Heywood WE, Khengar R, Campbell P, Hehir J, Cable S, Mills K, Zetterberg H, Limousin P, Libri V, Foltynie T, Schapira AHV.

JAMA Neurol. 2020 Jan 13. doi: 10.1001/jamaneurol.2019.4611. [Epub ahead of print]

3.

Investigation of somatic CNVs in brains of synucleinopathy cases using targeted SNCA analysis and single cell sequencing.

Perez-Rodriguez D, Kalyva M, Leija-Salazar M, Lashley T, Tarabichi M, Chelban V, Gentleman S, Schottlaender L, Franklin H, Vasmatzis G, Houlden H, Schapira AHV, Warner TT, Holton JL, Jaunmuktane Z, Proukakis C.

Acta Neuropathol Commun. 2019 Dec 23;7(1):219. doi: 10.1186/s40478-019-0873-5.

4.

GBA mutation promotes early mitochondrial dysfunction in 3D neurosphere models.

Morén C, Juárez-Flores DL, Chau KY, Gegg M, Garrabou G, González-Casacuberta I, Guitart-Mampel M, Tolosa E, Martí MJ, Cardellach F, Schapira AHV.

Aging (Albany NY). 2019 Nov 21;11(22):10338-10355. doi: 10.18632/aging.102460. Epub 2019 Nov 21.

5.

Parkinson disease.

Balestrino R, Schapira AHV.

Eur J Neurol. 2020 Jan;27(1):27-42. doi: 10.1111/ene.14108. Epub 2019 Nov 27. Review.

PMID:
31631455
6.

Functional assessment of glucocerebrosidase modulator efficacy in primary patient-derived macrophages is essential for drug development and patient stratification.

Welsh NJ, Gewinner CA, Mistry K, Koglin M, Cooke J, Butler M, Powney B, Roberts M, Staddon JM, Schapira AHV.

Haematologica. 2019 Sep 26. pii: haematol.2019.224717. doi: 10.3324/haematol.2019.224717. [Epub ahead of print]

7.

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.

Mov Disord. 2019 Sep;34(9):1365-1373. doi: 10.1002/mds.27775. Epub 2019 Jun 28.

8.

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.

J Neurol Neurosurg Psychiatry. 2019 Oct;90(10):1091-1097. doi: 10.1136/jnnp-2019-320394. Epub 2019 Jun 20.

PMID:
31221723
9.

Ablation of the pro-inflammatory master regulator miR-155 does not mitigate neuroinflammation or neurodegeneration in a vertebrate model of Gaucher's disease.

Watson L, Keatinge M, Gegg M, Bai Q, Sandulescu MC, Vardi A, Futerman AH, Schapira AHV, Burton EA, Bandmann O.

Neurobiol Dis. 2019 Jul;127:563-569. doi: 10.1016/j.nbd.2019.04.008. Epub 2019 Apr 11.

PMID:
30981829
10.

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.

Mol Genet Genomic Med. 2019 Mar;7(3):e564. doi: 10.1002/mgg3.564. Epub 2019 Jan 13.

11.

Glucocerebrosidase mutations and synucleinopathies: Toward a model of precision medicine.

Blandini F, Cilia R, Cerri S, Pezzoli G, Schapira AHV, Mullin S, Lanciego JL.

Mov Disord. 2019 Jan;34(1):9-21. doi: 10.1002/mds.27583. Epub 2018 Dec 27. Review.

PMID:
30589955
12.

Progress in neurology 2017-2018.

Schapira AHV.

Eur J Neurol. 2018 Dec;25(12):1389-1397. doi: 10.1111/ene.13846. No abstract available.

PMID:
30347488
13.

Neurological effects of glucocerebrosidase gene mutations.

Mullin S, Hughes D, Mehta A, Schapira AHV.

Eur J Neurol. 2019 Mar;26(3):388-e29. doi: 10.1111/ene.13837. Epub 2018 Dec 13. Review.

14.

Somatic copy number gains of α-synuclein (SNCA) in Parkinson's disease and multiple system atrophy brains.

Mokretar K, Pease D, Taanman JW, Soenmez A, Ejaz A, Lashley T, Ling H, Gentleman S, Houlden H, Holton JL, Schapira AHV, Nacheva E, Proukakis C.

Brain. 2018 Aug 1;141(8):2419-2431. doi: 10.1093/brain/awy157.

15.

GYG1 causing progressive limb girdle myopathy with onset during teenage years (polyglucosan body myopathy 2).

Desikan M, Scalco RS, Manole A, Gardiner AR, Schapira AH, Lachmann RH, Houlden H, Holton JL, Phadke R, Quinlivan R.

Neuromuscul Disord. 2018 Apr;28(4):346-349. doi: 10.1016/j.nmd.2018.01.002. Epub 2018 Jan 10.

PMID:
29422440
16.

Glucocerebrosidase and Parkinson Disease: Molecular, Clinical, and Therapeutic Implications.

Balestrino R, Schapira AHV.

Neuroscientist. 2018 Oct;24(5):540-559. doi: 10.1177/1073858417748875. Epub 2018 Feb 4. Review.

PMID:
29400127
17.

The role of glucocerebrosidase in Parkinson disease pathogenesis.

Gegg ME, Schapira AHV.

FEBS J. 2018 Oct;285(19):3591-3603. doi: 10.1111/febs.14393. Epub 2018 Feb 19. Review.

18.

Effects of ambroxol on the autophagy-lysosome pathway and mitochondria in primary cortical neurons.

Magalhaes J, Gegg ME, Migdalska-Richards A, Schapira AH.

Sci Rep. 2018 Jan 23;8(1):1385. doi: 10.1038/s41598-018-19479-8.

19.

DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis.

Piston D, Alvarez-Erviti L, Bansal V, Gargano D, Yao Z, Szabadkai G, Odell M, Puno MR, Björkblom B, Maple-Grødem J, Breuer P, Kaut O, Larsen JP, Bonn S, Møller SG, Wüllner U, Schapira AHV, Gegg ME.

Hum Mol Genet. 2018 Feb 1;27(3):576. doi: 10.1093/hmg/ddx425. No abstract available.

20.

What would James Parkinson think? A virtual dialogue on factors influencing the development of Parkinson's disease.

Schapira AH.

Mov Disord. 2017 Nov;32(11):1499-1500. doi: 10.1002/mds.27231. No abstract available.

PMID:
29124789
21.

Advances and insights into neurological practice 2016-17.

Schapira AHV.

Eur J Neurol. 2017 Dec;24(12):1425-1434. doi: 10.1111/ene.13480. No abstract available.

PMID:
29034555
22.

DJ-1 is a redox sensitive adapter protein for high molecular weight complexes involved in regulation of catecholamine homeostasis.

Piston D, Alvarez-Erviti L, Bansal V, Gargano D, Yao Z, Szabadkai G, Odell M, Puno MR, Björkblom B, Maple-Grødem J, Breuer P, Kaut O, Larsen JP, Bonn S, Møller SG, Wüllner U, Schapira AHV, Gegg ME.

Hum Mol Genet. 2017 Oct 15;26(20):4028-4041. doi: 10.1093/hmg/ddx294. Erratum in: Hum Mol Genet. 2018 Feb 1;27(3):576.

23.

The L444P Gba1 mutation enhances alpha-synuclein induced loss of nigral dopaminergic neurons in mice.

Migdalska-Richards A, Wegrzynowicz M, Rusconi R, Deangeli G, Di Monte DA, Spillantini MG, Schapira AHV.

Brain. 2017 Oct 1;140(10):2706-2721. doi: 10.1093/brain/awx221.

24.

Insights into the structural biology of Gaucher disease.

Smith L, Mullin S, Schapira AHV.

Exp Neurol. 2017 Dec;298(Pt B):180-190. doi: 10.1016/j.expneurol.2017.09.010. Epub 2017 Sep 18. Review.

PMID:
28923368
25.

Past, present, and future of Parkinson's disease: A special essay on the 200th Anniversary of the Shaking Palsy.

Obeso JA, Stamelou M, Goetz CG, Poewe W, Lang AE, Weintraub D, Burn D, Halliday GM, Bezard E, Przedborski S, Lehericy S, Brooks DJ, Rothwell JC, Hallett M, DeLong MR, Marras C, Tanner CM, Ross GW, Langston JW, Klein C, Bonifati V, Jankovic J, Lozano AM, Deuschl G, Bergman H, Tolosa E, Rodriguez-Violante M, Fahn S, Postuma RB, Berg D, Marek K, Standaert DG, Surmeier DJ, Olanow CW, Kordower JH, Calabresi P, Schapira AHV, Stoessl AJ.

Mov Disord. 2017 Sep;32(9):1264-1310. doi: 10.1002/mds.27115. Review.

26.

Nonmotor Symptoms in Experimental Models of Parkinson's Disease.

Titova N, Schapira AHV, Chaudhuri KR, Qamar MA, Katunina E, Jenner P.

Int Rev Neurobiol. 2017;133:63-89. doi: 10.1016/bs.irn.2017.05.018. Epub 2017 Jul 10. Review.

PMID:
28802936
27.

Non-motor features of Parkinson disease.

Schapira AHV, Chaudhuri KR, Jenner P.

Nat Rev Neurosci. 2017 Aug;18(8):509. doi: 10.1038/nrn.2017.91. Epub 2017 Jul 13.

PMID:
28720825
28.

DNA isolation protocol effects on nuclear DNA analysis by microarrays, droplet digital PCR, and whole genome sequencing, and on mitochondrial DNA copy number estimation.

Nacheva E, Mokretar K, Soenmez A, Pittman AM, Grace C, Valli R, Ejaz A, Vattathil S, Maserati E, Houlden H, Taanman JW, Schapira AH, Proukakis C.

PLoS One. 2017 Jul 6;12(7):e0180467. doi: 10.1371/journal.pone.0180467. eCollection 2017.

29.

Glucocerebrosidase Mutations in Parkinson Disease.

O'Regan G, deSouza RM, Balestrino R, Schapira AH.

J Parkinsons Dis. 2017;7(3):411-422. doi: 10.3233/JPD-171092. Review.

PMID:
28598856
30.

Non-motor features of Parkinson disease.

Schapira AHV, Chaudhuri KR, Jenner P.

Nat Rev Neurosci. 2017 Jul;18(7):435-450. doi: 10.1038/nrn.2017.62. Epub 2017 Jun 8. Review. Erratum in: Nat Rev Neurosci. 2017 Aug;18(8):509.

PMID:
28592904
31.

Systemic PTEN-Akt1-mTOR pathway activity in patients with normal tension glaucoma and ocular hypertension: A case series.

Lascaratos G, Chau KY, Zhu H, Gkotsi D, Kamal D, Gout I, Luthert PJ, Schapira AHV, Garway-Heath DF.

Mitochondrion. 2017 Sep;36:96-102. doi: 10.1016/j.mito.2017.05.003. Epub 2017 May 9.

PMID:
28499984
32.

Oral ambroxol increases brain glucocerebrosidase activity in a nonhuman primate.

Migdalska-Richards A, Ko WKD, Li Q, Bezard E, Schapira AHV.

Synapse. 2017 Jul;71(7). doi: 10.1002/syn.21967. Epub 2017 Mar 17.

33.

α-Synuclein structural features inhibit harmful polyunsaturated fatty acid oxidation, suggesting roles in neuroprotection.

De Franceschi G, Fecchio C, Sharon R, Schapira AHV, Proukakis C, Bellotti V, de Laureto PP.

J Biol Chem. 2017 Apr 28;292(17):6927-6937. doi: 10.1074/jbc.M116.765149. Epub 2017 Feb 23.

34.

A Human Neural Crest Stem Cell-Derived Dopaminergic Neuronal Model Recapitulates Biochemical Abnormalities in GBA1 Mutation Carriers.

Yang SY, Beavan M, Chau KY, Taanman JW, Schapira AHV.

Stem Cell Reports. 2017 Mar 14;8(3):728-742. doi: 10.1016/j.stemcr.2017.01.011. Epub 2017 Feb 16.

35.

Assessment of Safety and Efficacy of Safinamide as a Levodopa Adjunct in Patients With Parkinson Disease and Motor Fluctuations: A Randomized Clinical Trial.

Schapira AH, Fox SH, Hauser RA, Jankovic J, Jost WH, Kenney C, Kulisevsky J, Pahwa R, Poewe W, Anand R.

JAMA Neurol. 2017 Feb 1;74(2):216-224. doi: 10.1001/jamaneurol.2016.4467.

PMID:
27942720
36.

A LON-ClpP Proteolytic Axis Degrades Complex I to Extinguish ROS Production in Depolarized Mitochondria.

Pryde KR, Taanman JW, Schapira AH.

Cell Rep. 2016 Dec 6;17(10):2522-2531. doi: 10.1016/j.celrep.2016.11.027.

37.

Advances in neurological research and practice.

Schapira AH.

Eur J Neurol. 2016 Dec;23(12):1685-1693. doi: 10.1111/ene.13214. No abstract available.

PMID:
27882727
38.

Ambroxol effects in glucocerebrosidase and α-synuclein transgenic mice.

Migdalska-Richards A, Daly L, Bezard E, Schapira AH.

Ann Neurol. 2016 Nov;80(5):766-775. doi: 10.1002/ana.24790.

39.

Endo-lysosomal TRP mucolipin-1 channels trigger global ER Ca2+ release and Ca2+ influx.

Kilpatrick BS, Yates E, Grimm C, Schapira AH, Patel S.

J Cell Sci. 2016 Oct 15;129(20):3859-3867. Epub 2016 Aug 30.

40.

The Cytomegalovirus protein pUL37×1 targets mitochondria to mediate neuroprotection.

Hong CT, Chau KY, Schapira AH.

Sci Rep. 2016 Aug 26;6:31373. doi: 10.1038/srep31373.

41.

Parkinson disease-linked GBA mutation effects reversed by molecular chaperones in human cell and fly models.

Sanchez-Martinez A, Beavan M, Gegg ME, Chau KY, Whitworth AJ, Schapira AH.

Sci Rep. 2016 Aug 19;6:31380. doi: 10.1038/srep31380.

42.

Molecular changes in the postmortem parkinsonian brain.

Toulorge D, Schapira AH, Hajj R.

J Neurochem. 2016 Oct;139 Suppl 1:27-58. doi: 10.1111/jnc.13696. Epub 2016 Jul 5. Review.

43.

Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease.

Magalhaes J, Gegg ME, Migdalska-Richards A, Doherty MK, Whitfield PD, Schapira AH.

Hum Mol Genet. 2016 Aug 15;25(16):3432-3445. doi: 10.1093/hmg/ddw185. Epub 2016 Jul 4.

44.

CAV3 mutations causing exercise intolerance, myalgia and rhabdomyolysis: Expanding the phenotypic spectrum of caveolinopathies.

Scalco RS, Gardiner AR, Pitceathly RD, Hilton-Jones D, Schapira AH, Turner C, Parton M, Desikan M, Barresi R, Marsh J, Manzur AY, Childs AM, Feng L, Murphy E, Lamont PJ, Ravenscroft G, Wallefeld W, Davis MR, Laing NG, Holton JL, Fialho D, Bushby K, Hanna MG, Phadke R, Jungbluth H, Houlden H, Quinlivan R.

Neuromuscul Disord. 2016 Aug;26(8):504-10. doi: 10.1016/j.nmd.2016.05.006. Epub 2016 May 11.

45.

Meclizine-induced enhanced glycolysis is neuroprotective in Parkinson disease cell models.

Hong CT, Chau KY, Schapira AH.

Sci Rep. 2016 May 5;6:25344. doi: 10.1038/srep25344.

46.

PINK1 disables the anti-fission machinery to segregate damaged mitochondria for mitophagy.

Pryde KR, Smith HL, Chau KY, Schapira AH.

J Cell Biol. 2016 Apr 25;213(2):163-71. doi: 10.1083/jcb.201509003. Epub 2016 Apr 18.

47.

Glucocerebrosidase in Parkinson's disease: Insights into pathogenesis and prospects for treatment.

Schapira AH, Chiasserini D, Beccari T, Parnetti L.

Mov Disord. 2016 Jun;31(6):830-5. doi: 10.1002/mds.26616. Epub 2016 Apr 19. Review.

PMID:
27091307
48.

Correction: A Proposal for a Comprehensive Grading of Parkinson's Disease Severity Combining Motor and Non-Motor Assessments: Meeting an Unmet Need.

Ray Chaudhuri K, Rojo JM, Schapira AH, Brooks DJ, Stocchi F, Odin P, Antonini A, Brown RG, Martinez-Martin P.

PLoS One. 2016 Feb 19;11(2):e0150130. doi: 10.1371/journal.pone.0150130. eCollection 2016. No abstract available.

49.

The relationship between glucocerebrosidase mutations and Parkinson disease.

Migdalska-Richards A, Schapira AH.

J Neurochem. 2016 Oct;139 Suppl 1:77-90. doi: 10.1111/jnc.13385. Epub 2016 Feb 10. Review.

50.

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. 2016 Jan;59(1):12-20. doi: 10.1016/j.ceca.2015.11.002. Epub 2015 Nov 26.

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