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Items: 1 to 50 of 87

1.

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 Jun 15. doi: 10.1093/brain/awy157. [Epub ahead of print]

PMID:
29917054
2.

Review: Somatic mutations in neurodegeneration.

Leija-Salazar M, Piette C, Proukakis C.

Neuropathol Appl Neurobiol. 2018 Apr;44(3):267-285. doi: 10.1111/nan.12465. Epub 2018 Feb 28. Review.

PMID:
29369391
3.

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.

4.

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.

5.

Genetic and phenotypic characterization of complex hereditary spastic paraplegia.

Kara E, Tucci A, Manzoni C, Lynch DS, Elpidorou M, Bettencourt C, Chelban V, Manole A, Hamed SA, Haridy NA, Federoff M, Preza E, Hughes D, Pittman A, Jaunmuktane Z, Brandner S, Xiromerisiou G, Wiethoff S, Schottlaender L, Proukakis C, Morris H, Warner T, Bhatia KP, Korlipara LV, Singleton AB, Hardy J, Wood NW, Lewis PA, Houlden H.

Brain. 2016 Jul;139(Pt 7):1904-18. doi: 10.1093/brain/aww111. Epub 2016 May 23.

6.

A large Indian family with rearrangement of chromosome 4p16 and 3p26.3 and divergent clinical presentations.

Iype T, Alakbarzade V, Iype M, Singh R, Sreekantan-Nair A, Chioza BA, Mohapatra TM, Baple EL, Patton MA, Warner TT, Proukakis C, Kulkarni A, Crosby AH.

BMC Med Genet. 2015 Nov 10;16:104. doi: 10.1186/s12881-015-0251-5.

7.

Distinct clinical and neuropathological features of G51D SNCA mutation cases compared with SNCA duplication and H50Q mutation.

Kiely AP, Ling H, Asi YT, Kara E, Proukakis C, Schapira AH, Morris HR, Roberts HC, Lubbe S, Limousin P, Lewis PA, Lees AJ, Quinn N, Hardy J, Love S, Revesz T, Houlden H, Holton JL.

Mol Neurodegener. 2015 Aug 27;10:41. doi: 10.1186/s13024-015-0038-3.

8.

Evolution of prodromal clinical markers of Parkinson disease in a GBA mutation-positive cohort.

Beavan M, McNeill A, Proukakis C, Hughes DA, Mehta A, Schapira AH.

JAMA Neurol. 2015 Feb;72(2):201-8. doi: 10.1001/jamaneurol.2014.2950.

9.

The H50Q mutation induces a 10-fold decrease in the solubility of α-synuclein.

Porcari R, Proukakis C, Waudby CA, Bolognesi B, Mangione PP, Paton JF, Mullin S, Cabrita LD, Penco A, Relini A, Verona G, Vendruscolo M, Stoppini M, Tartaglia GG, Camilloni C, Christodoulou J, Schapira AH, Bellotti V.

J Biol Chem. 2015 Jan 23;290(4):2395-404. doi: 10.1074/jbc.M114.610527. Epub 2014 Dec 10.

10.

Extended phenotypic spectrum of KIF5A mutations: From spastic paraplegia to axonal neuropathy.

Liu YT, Laurá M, Hersheson J, Horga A, Jaunmuktane Z, Brandner S, Pittman A, Hughes D, Polke JM, Sweeney MG, Proukakis C, Janssen JC, Auer-Grumbach M, Zuchner S, Shields KG, Reilly MM, Houlden H.

Neurology. 2014 Aug 12;83(7):612-9. doi: 10.1212/WNL.0000000000000691. Epub 2014 Jul 9.

11.

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations.

Kara E, Kiely AP, Proukakis C, Giffin N, Love S, Hehir J, Rantell K, Pandraud A, Hernandez DG, Nacheva E, Pittman AM, Nalls MA, Singleton AB, Revesz T, Bhatia KP, Quinn N, Hardy J, Holton JL, Houlden H.

JAMA Neurol. 2014 Sep;71(9):1162-71. doi: 10.1001/jamaneurol.2014.994.

12.

Visual short-term memory deficits associated with GBA mutation and Parkinson's disease.

Zokaei N, McNeill A, Proukakis C, Beavan M, Jarman P, Korlipara P, Hughes D, Mehta A, Hu MT, Schapira AH, Husain M.

Brain. 2014 Aug;137(Pt 8):2303-11. doi: 10.1093/brain/awu143. Epub 2014 Jun 11.

13.

Analysis of Parkinson's disease brain-derived DNA for alpha-synuclein coding somatic mutations.

Proukakis C, Shoaee M, Morris J, Brier T, Kara E, Sheerin UM, Charlesworth G, Tolosa E, Houlden H, Wood NW, Schapira AH.

Mov Disord. 2014 Jul;29(8):1060-4. doi: 10.1002/mds.25883. Epub 2014 Apr 21.

14.

Genetics of Parkinson's disease: alpha-synuclein and other insights from Greece.

Proukakis C.

Eur J Neurol. 2014 Jul;21(7):946-7. doi: 10.1111/ene.12357. Epub 2014 Jan 25. No abstract available.

PMID:
24460978
15.

Mutations in B4GALNT1 (GM2 synthase) underlie a new disorder of ganglioside biosynthesis.

Harlalka GV, Lehman A, Chioza B, Baple EL, Maroofian R, Cross H, Sreekantan-Nair A, Priestman DA, Al-Turki S, McEntagart ME, Proukakis C, Royle L, Kozak RP, Bastaki L, Patton M, Wagner K, Coblentz R, Price J, Mezei M, Schlade-Bartusiak K, Platt FM, Hurles ME, Crosby AH.

Brain. 2013 Dec;136(Pt 12):3618-24. doi: 10.1093/brain/awt270. Epub 2013 Oct 7.

16.

Somatic alpha-synuclein mutations in Parkinson's disease: hypothesis and preliminary data.

Proukakis C, Houlden H, Schapira AH.

Mov Disord. 2013 Jun;28(6):705-12. doi: 10.1002/mds.25502. Epub 2013 May 14.

17.

α-Synuclein mutations cluster around a putative protein loop.

Kara E, Lewis PA, Ling H, Proukakis C, Houlden H, Hardy J.

Neurosci Lett. 2013 Jun 24;546:67-70. doi: 10.1016/j.neulet.2013.04.058. Epub 2013 May 10.

18.

A novel α-synuclein missense mutation in Parkinson disease.

Proukakis C, Dudzik CG, Brier T, MacKay DS, Cooper JM, Millhauser GL, Houlden H, Schapira AH.

Neurology. 2013 Mar 12;80(11):1062-4. doi: 10.1212/WNL.0b013e31828727ba. Epub 2013 Feb 20.

19.

α-Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy?

Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Quinn N, Lees AJ, Hardy J, Revesz T, Houlden H, Holton JL.

Acta Neuropathol. 2013 May;125(5):753-69. doi: 10.1007/s00401-013-1096-7. Epub 2013 Feb 12.

20.

Hyposmia and cognitive impairment in Gaucher disease patients and carriers.

McNeill A, Duran R, Proukakis C, Bras J, Hughes D, Mehta A, Hardy J, Wood NW, Schapira AH.

Mov Disord. 2012 Apr;27(4):526-32. doi: 10.1002/mds.24945. Epub 2012 Feb 16.

21.

Detection of novel mutations and review of published data suggests that hereditary spastic paraplegia caused by spastin (SPAST) mutations is found more often in males.

Proukakis C, Moore D, Labrum R, Wood NW, Houlden H.

J Neurol Sci. 2011 Jul 15;306(1-2):62-5. doi: 10.1016/j.jns.2011.03.043. Epub 2011 May 5. Review.

PMID:
21546041
22.

Defective mitochondrial mRNA maturation is associated with spastic ataxia.

Crosby AH, Patel H, Chioza BA, Proukakis C, Gurtz K, Patton MA, Sharifi R, Harlalka G, Simpson MA, Dick K, Reed JA, Al-Memar A, Chrzanowska-Lightowlers ZM, Cross HE, Lightowlers RN.

Am J Hum Genet. 2010 Nov 12;87(5):655-60. doi: 10.1016/j.ajhg.2010.09.013. Epub 2010 Oct 21.

23.

Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35).

Dick KJ, Eckhardt M, Paisán-Ruiz C, Alshehhi AA, Proukakis C, Sibtain NA, Maier H, Sharifi R, Patton MA, Bashir W, Koul R, Raeburn S, Gieselmann V, Houlden H, Crosby AH.

Hum Mutat. 2010 Apr;31(4):E1251-60. doi: 10.1002/humu.21205.

PMID:
20104589
24.

Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype.

Smith BN, Bevan S, Vance C, Renwick P, Wilkinson P, Proukakis C, Squitieri F, Berardelli A, Warner TT, Reid E, Shaw CE.

Clin Genet. 2009 May;75(5):485-9. doi: 10.1111/j.1399-0004.2009.01184.x.

PMID:
19459885
25.

Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms.

Salinas S, Proukakis C, Crosby A, Warner TT.

Lancet Neurol. 2008 Dec;7(12):1127-38. doi: 10.1016/S1474-4422(08)70258-8. Review.

PMID:
19007737
26.

Exit, pursued by a bear.

Proukakis C, Bonakis A, Salman AM, Kalfakis N, Papageorgiou SG.

Lancet. 2008 Jul 19;372(9634):262. doi: 10.1016/S0140-6736(08)61079-X. No abstract available.

PMID:
18640462
27.

Spastin and microtubules: Functions in health and disease.

Salinas S, Carazo-Salas RE, Proukakis C, Schiavo G, Warner TT.

J Neurosci Res. 2007 Sep;85(12):2778-82. Review.

PMID:
17348041
28.

Human spastin has multiple microtubule-related functions.

Salinas S, Carazo-Salas RE, Proukakis C, Cooper JM, Weston AE, Schiavo G, Warner TT.

J Neurochem. 2005 Dec;95(5):1411-20. Epub 2005 Oct 7.

29.

Infantile-onset symptomatic epilepsy syndrome caused by a homozygous loss-of-function mutation of GM3 synthase.

Simpson MA, Cross H, Proukakis C, Priestman DA, Neville DC, Reinkensmeier G, Wang H, Wiznitzer M, Gurtz K, Verganelaki A, Pryde A, Patton MA, Dwek RA, Butters TD, Platt FM, Crosby AH.

Nat Genet. 2004 Nov;36(11):1225-9. Epub 2004 Oct 24.

30.

Troyer syndrome revisited. A clinical and radiological study of a complicated hereditary spastic paraplegia.

Proukakis C, Cross H, Patel H, Patton MA, Valentine A, Crosby AH.

J Neurol. 2004 Sep;251(9):1105-10.

PMID:
15372254
31.

A clinical, genetic and candidate gene study of Silver syndrome, a complicated form of hereditary spastic paraplegia.

Warner TT, Patel H, Proukakis C, Reed JA, McKie L, Wills A, Patton MA, Crosby AH.

J Neurol. 2004 Sep;251(9):1068-74.

PMID:
15372247
32.

Heterozygous missense mutations in BSCL2 are associated with distal hereditary motor neuropathy and Silver syndrome.

Windpassinger C, Auer-Grumbach M, Irobi J, Patel H, Petek E, Hörl G, Malli R, Reed JA, Dierick I, Verpoorten N, Warner TT, Proukakis C, Van den Bergh P, Verellen C, Van Maldergem L, Merlini L, De Jonghe P, Timmerman V, Crosby AH, Wagner K.

Nat Genet. 2004 Mar;36(3):271-6. Epub 2004 Feb 22.

PMID:
14981520
33.

Maspardin is mutated in mast syndrome, a complicated form of hereditary spastic paraplegia associated with dementia.

Simpson MA, Cross H, Proukakis C, Pryde A, Hershberger R, Chatonnet A, Patton MA, Crosby AH.

Am J Hum Genet. 2003 Nov;73(5):1147-56. Epub 2003 Oct 16.

34.

No association with common Caucasian genotypes in exons 8, 13 and 14 of the human cytoplasmic dynein heavy chain gene (DNCHC1) and familial motor neuron disorders.

Ahmad-Annuar A, Shah P, Hafezparast M, Hummerich H, Witherden AS, Morrison KE, Shaw PJ, Kirby J, Warner TT, Crosby A, Proukakis C, Wilkinson P, Orrell RW, Bradley L, Martin JE, Fisher EM.

Amyotroph Lateral Scler Other Motor Neuron Disord. 2003 Sep;4(3):150-7.

PMID:
13129801
35.

The identification of a conserved domain in both spartin and spastin, mutated in hereditary spastic paraplegia.

Ciccarelli FD, Proukakis C, Patel H, Cross H, Azam S, Patton MA, Bork P, Crosby AH.

Genomics. 2003 Apr;81(4):437-41.

PMID:
12676568
36.

Infecton: a 99mTc-ciprofloxacin radiopharmaceutical for the detection of bone infection.

Malamitsi J, Giamarellou H, Kanellakopoulou K, Dounis E, Grecka V, Christakopoulos J, Koratzanis G, Antoniadou A, Panoutsopoulos G, Batsakis C, Proukakis C.

Clin Microbiol Infect. 2003 Feb;9(2):101-9.

37.

Screening of patients with hereditary spastic paraplegia reveals seven novel mutations in the SPG4 (Spastin) gene.

Proukakis C, Auer-Grumbach M, Wagner K, Wilkinson PA, Reid E, Patton MA, Warner TT, Crosby AH.

Hum Mutat. 2003 Feb;21(2):170.

PMID:
12552568
38.

Radon survey in Greece--risk assesment.

Nikolopoulos D, Louizi A, Koukouliou V, Serefoglou A, Georgiou E, Ntalles K, Proukakis C.

J Environ Radioact. 2002;63(2):173-86.

PMID:
12363269
39.

Is the transportation highway the right road for hereditary spastic paraplegia?

Crosby AH, Proukakis C.

Am J Hum Genet. 2002 Nov;71(5):1009-16. Epub 2002 Sep 24. Review.

40.

Three novel spastin (SPG4) mutations in families with autosomal dominant hereditary spastic paraplegia.

Proukakis C, Hart PE, Cornish A, Warner TT, Crosby AH.

J Neurol Sci. 2002 Sep 15;201(1-2):65-9.

PMID:
12163196
41.

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia.

Patel H, Cross H, Proukakis C, Hershberger R, Bork P, Ciccarelli FD, Patton MA, McKusick VA, Crosby AH.

Nat Genet. 2002 Aug;31(4):347-8. Epub 2002 Jul 22.

PMID:
12134148
42.

Blood pressure elevation after phenylephrine infusion may adversely affect myocardial perfusion in patients with coronary artery disease.

Antonopoulos A, Nikolopoulos D, Georgiou EK, Kyriakidis M, Proukakis C.

Int J Cardiol. 2002 Aug;84(2-3):201-9.

PMID:
12127373
44.

Differences in effective dose estimation from dose-area product and entrance surface dose measurements in intravenous urography.

Yakoumakis E, Tsalafoutas IA, Nikolaou D, Nazos I, Koulentianos E, Proukakis C.

Br J Radiol. 2001 Aug;74(884):727-34.

PMID:
11511498
45.

The diagnostic X-ray protection characteristics of Panelcrete, Aquapanel, Betopan and Gypsoplak Superboard.

Tsalafoutas IA, Yakoumakis E, Sandilos P, Vlahos L, Proukakis C.

Br J Radiol. 2001 Apr;74(880):351-7.

PMID:
11387154
46.

Image quality assessment and radiation doses in intraoral radiography.

Yakoumakis EN, Tierris CE, Stefanou EP, Phanourakis IG, Proukakis CC.

Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2001 Mar;91(3):362-8.

PMID:
11250637
47.

Diagnostic value of anti-alpha FP antibody levels in a metastatic germ cell tumor of unknown primary site.

Malamitsi J, Stathopoulos G, Kittas C, Chorti M, Colialexi A, Hadziyannis S, Proukakis C.

Anticancer Res. 1999 May-Jun;19(3B):2201-4.

PMID:
10472331
48.

Patient doses from barium meal and barium enema examinations and potential for reduction through proper set-up of equipment.

Yakoumakis E, Tsalafoutas IA, Sandilos P, Koulentianos H, Kasfiki A, Vlahos L, Proukakis C.

Br J Radiol. 1999 Feb;72(854):173-8.

PMID:
10365069
49.

Body composition assessment by dual-energy x-ray absorptiometry: comparison of prone and supine measurements.

Lambrinoudaki I, Georgiou E, Douskas G, Tsekes G, Kyriakidis M, Proukakis C.

Metabolism. 1998 Nov;47(11):1379-82.

PMID:
9826217
50.

Thallium-201 for detection of myocardial viability: comparison of early postexercise reinjection and imaging with 4 and 18-24 hours redistribution imaging.

Antonopoulos A, Georgiou E, Kyriakidis M, Nikolopoulos D, Proukakis C, Toutouzas P.

Cardiology. 1998 Oct;90(2):137-44.

PMID:
9778552

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