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Items: 49

1.

A Meta-Analysis of α-Synuclein Multiplication in Familial Parkinsonism.

Book A, Guella I, Candido T, Brice A, Hattori N, Jeon B, Farrer MJ; SNCA Multiplication Investigators of the GEoPD Consortium.

Front Neurol. 2018 Dec 11;9:1021. doi: 10.3389/fneur.2018.01021. eCollection 2018.

2.

Neurobehavioral characterization of adult-onset Alexander disease: A family study.

Lichtenstein ML, Dwosh E, Roy Chowdhury A, Farrer MJ, McKenzie MB, Guella I, Evans DM, Nygaard HB, Shewchuk JR, Hayden S, Barton JJS, Feldman HH.

Neurol Clin Pract. 2017 Oct;7(5):425-429. doi: 10.1212/CPJ.0000000000000356. No abstract available.

3.

Pipeline to gene discovery - Analysing familial Parkinsonism in the Queensland Parkinson's Project.

Bentley SR, Bortnick S, Guella I, Fowdar JY, Silburn PA, Wood SA, Farrer MJ, Mellick GD.

Parkinsonism Relat Disord. 2018 Apr;49:34-41. doi: 10.1016/j.parkreldis.2017.12.033. Epub 2018 Jan 3.

PMID:
29329938
4.

PSEN1 p.Met233Val in a Complex Neurodegenerative Movement and Neuropsychiatric Disorder.

Appel-Cresswell S, Guella I, Lehman A, Foti D, Farrer MJ.

J Mov Disord. 2018 Jan;11(1):45-48. doi: 10.14802/jmd.17066. Epub 2018 Jan 11.

5.

Dopamine receptors and BDNF-haplotypes predict dyskinesia in Parkinson's disease.

Kusters CDJ, Paul KC, Guella I, Bronstein JM, Sinsheimer JS, Farrer MJ, Ritz BR.

Parkinsonism Relat Disord. 2018 Feb;47:39-44. doi: 10.1016/j.parkreldis.2017.11.339. Epub 2017 Nov 24.

6.

DNAJC12 and dopa-responsive nonprogressive parkinsonism.

Straniero L, Guella I, Cilia R, Parkkinen L, Rimoldi V, Young A, Asselta R, Soldà G, Sossi V, Stoessl AJ, Priori A, Nishioka K, Hattori N, Follett J, Rajput A, Blau N, Pezzoli G, Farrer MJ, Goldwurm S, Rajput AH, Duga S.

Ann Neurol. 2017 Oct;82(4):640-646. doi: 10.1002/ana.25048. Epub 2017 Oct 11.

PMID:
28892570
7.

An Infant With Epilepsy and Recurrent Hemiplegia due to Compound Heterozygous Variants in ATP1A2.

Wilbur C, Buerki SE, Guella I, Toyota EB, Evans DM, McKenzie MB, Datta A, Michoulas A, Adam S, Van Allen MI, Nelson TN, Farrer MJ, Connolly MB, Demos M.

Pediatr Neurol. 2017 Oct;75:87-90. doi: 10.1016/j.pediatrneurol.2017.06.003. Epub 2017 Jun 8.

PMID:
28811059
8.

De Novo Mutations in YWHAG Cause Early-Onset Epilepsy.

Guella I, McKenzie MB, Evans DM, Buerki SE, Toyota EB, Van Allen MI; Epilepsy Genomics Study, Suri M, Elmslie F; Deciphering Developmental Disorders Study, Simon MEH, van Gassen KLI, Héron D, Keren B, Nava C, Connolly MB, Demos M, Farrer MJ.

Am J Hum Genet. 2017 Aug 3;101(2):300-310. doi: 10.1016/j.ajhg.2017.07.004.

9.

Loss-of-Function and Gain-of-Function Mutations in KCNQ5 Cause Intellectual Disability or Epileptic Encephalopathy.

Lehman A, Thouta S, Mancini GMS, Naidu S, van Slegtenhorst M, McWalter K, Person R, Mwenifumbo J, Salvarinova R; CAUSES Study; EPGEN Study, Guella I, McKenzie MB, Datta A, Connolly MB, Kalkhoran SM, Poburko D, Friedman JM, Farrer MJ, Demos M, Desai S, Claydon T.

Am J Hum Genet. 2017 Jul 6;101(1):65-74. doi: 10.1016/j.ajhg.2017.05.016. Epub 2017 Jun 29.

10.

SCA2 family presenting as typical Parkinson's disease: 34 year follow up.

Kim YE, Jeon B, Farrer MJ, Scott E, Guella I, Park SS, Kim JM, Park HY, Kim A, Son YD, Cho ZH.

Parkinsonism Relat Disord. 2017 Jul;40:69-72. doi: 10.1016/j.parkreldis.2017.04.003. Epub 2017 Apr 12.

PMID:
28462804
11.

De novo FGF12 mutation in 2 patients with neonatal-onset epilepsy.

Guella I, Huh L, McKenzie MB, Toyota EB, Bebin EM, Thompson ML, Cooper GM, Evans DM, Buerki SE, Adam S, Van Allen MI, Nelson TN, Connolly MB, Farrer MJ, Demos M.

Neurol Genet. 2016 Nov 10;2(6):e120. eCollection 2016 Dec.

12.

Conjugal parkinsonism is coincidental.

Rajput AH, Ferguson LW, Robinson CA, Guella I, Farrer MJ, Rajput A.

Parkinsonism Relat Disord. 2016 Dec;33:149-150. doi: 10.1016/j.parkreldis.2016.10.004. Epub 2016 Oct 7. No abstract available.

PMID:
27743700
13.

Conjugal parkinsonism - Clinical, pathology and genetic study. No evidence of person-to-person transmission.

Rajput AH, Ferguson LW, Robinson CA, Guella I, Farrer MJ, Rajput A.

Parkinsonism Relat Disord. 2016 Oct;31:87-90. doi: 10.1016/j.parkreldis.2016.07.011. Epub 2016 Jul 26.

PMID:
27481034
14.

DCTN1 p.K56R in progressive supranuclear palsy.

Gustavsson EK, Trinh J, Guella I, Szu-Tu C, Khinda J, Lin CH, Wu RM, Stoessl J, Appel-Cresswell S, McKeown M, Rajput A, Rajput AH, Petersen MS, Jeon BS, Aasly JO, Farrer MJ.

Parkinsonism Relat Disord. 2016 Jul;28:56-61. doi: 10.1016/j.parkreldis.2016.04.025. Epub 2016 Apr 23.

PMID:
27132499
15.

α-synuclein genetic variability: A biomarker for dementia in Parkinson disease.

Guella I, Evans DM, Szu-Tu C, Nosova E, Bortnick SF; SNCA Cognition Study Group, Goldman JG, Dalrymple-Alford JC, Geurtsen GJ, Litvan I, Ross OA, Middleton LT, Parkkinen L, Farrer MJ.

Ann Neurol. 2016 Jun;79(6):991-9. doi: 10.1002/ana.24664. Epub 2016 May 5.

16.

Double homozygous mutations (R275W and M432V) in the ParkinGene associated with late-onset Parkinson's disease.

Carr J, Guella I, Szu-Tu C, Boolay S, Glanzmann B, Farrer MJ, Bardien S.

Mov Disord. 2016 Mar;31(3):423-5. doi: 10.1002/mds.26524. Epub 2016 Feb 10. No abstract available.

PMID:
26860075
17.

Novel LRRK2 mutations in Parkinsonism.

Trinh J, Guella I, McKenzie M, Gustavsson EK, Szu-Tu C, Petersen MS, Rajput A, Rajput AH, McKeown M, Jeon BS, Aasly JO, Bardien S, Farrer MJ.

Parkinsonism Relat Disord. 2015 Sep;21(9):1119-21. doi: 10.1016/j.parkreldis.2015.07.011. Epub 2015 Jul 18. No abstract available.

PMID:
26213354
18.

Defining neurodegeneration on Guam by targeted genomic sequencing.

Steele JC, Guella I, Szu-Tu C, Lin MK, Thompson C, Evans DM, Sherman HE, Vilariño-Güell C, Gwinn K, Morris H, Dickson DW, Farrer MJ.

Ann Neurol. 2015 Mar;77(3):458-68. doi: 10.1002/ana.24346. Epub 2015 Feb 3.

PMID:
25558820
19.

Parkinsonism in GTP cyclohydrolase 1 mutation carriers.

Guella I, Sherman HE, Appel-Cresswell S, Rajput A, Rajput AH, Farrer MJ.

Brain. 2015 May;138(Pt 5):e349. doi: 10.1093/brain/awu341. Epub 2014 Dec 13. No abstract available.

20.

LRRK2-Related Parkinson Disease.

Trinh J, Farrer M, Ross OA, Guella I.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2006 Nov 2 [updated 2014 Dec 11].

21.

Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction.

Do R, Stitziel NO, Won HH, Jørgensen AB, Duga S, Angelica Merlini P, Kiezun A, Farrall M, Goel A, Zuk O, Guella I, Asselta R, Lange LA, Peloso GM, Auer PL; NHLBI Exome Sequencing Project, Girelli D, Martinelli N, Farlow DN, DePristo MA, Roberts R, Stewart AF, Saleheen D, Danesh J, Epstein SE, Sivapalaratnam S, Hovingh GK, Kastelein JJ, Samani NJ, Schunkert H, Erdmann J, Shah SH, Kraus WE, Davies R, Nikpay M, Johansen CT, Wang J, Hegele RA, Hechter E, Marz W, Kleber ME, Huang J, Johnson AD, Li M, Burke GL, Gross M, Liu Y, Assimes TL, Heiss G, Lange EM, Folsom AR, Taylor HA, Olivieri O, Hamsten A, Clarke R, Reilly DF, Yin W, Rivas MA, Donnelly P, Rossouw JE, Psaty BM, Herrington DM, Wilson JG, Rich SS, Bamshad MJ, Tracy RP, Cupples LA, Rader DJ, Reilly MP, Spertus JA, Cresci S, Hartiala J, Tang WH, Hazen SL, Allayee H, Reiner AP, Carlson CS, Kooperberg C, Jackson RD, Boerwinkle E, Lander ES, Schwartz SM, Siscovick DS, McPherson R, Tybjaerg-Hansen A, Abecasis GR, Watkins H, Nickerson DA, Ardissino D, Sunyaev SR, O'Donnell CJ, Altshuler D, Gabriel S, Kathiresan S.

Nature. 2015 Feb 5;518(7537):102-6. doi: 10.1038/nature13917. Epub 2014 Dec 10.

22.

Genetic variability of the retromer cargo recognition complex in parkinsonism.

Gustavsson EK, Guella I, Trinh J, Szu-Tu C, Rajput A, Rajput AH, Steele JC, McKeown M, Jeon BS, Aasly JO, Farrer MJ.

Mov Disord. 2015 Apr;30(4):580-4. doi: 10.1002/mds.26104. Epub 2014 Dec 5.

PMID:
25475142
23.

Parkinson's disease, genetic variability and the Faroe Islands.

Petersen MS, Guella I, Bech S, Gustavsson E, Farrer MJ.

Parkinsonism Relat Disord. 2015 Jan;21(1):75-8. doi: 10.1016/j.parkreldis.2014.10.027. Epub 2014 Nov 4.

PMID:
25466404
24.

Clinical and molecular characterisation of 21 patients affected by quantitative fibrinogen deficiency.

Asselta R, Platè M, Robusto M, Borhany M, Guella I, Soldà G, Afrasiabi A, Menegatti M, Shamsi T, Peyvandi F, Duga S.

Thromb Haemost. 2015 Mar;113(3):567-76. doi: 10.1160/TH14-07-0629. Epub 2014 Nov 27.

PMID:
25427968
25.

DNAJC13 genetic variants in parkinsonism.

Gustavsson EK, Trinh J, Guella I, Vilariño-Güell C, Appel-Cresswell S, Stoessl AJ, Tsui JK, McKeown M, Rajput A, Rajput AH, Aasly JO, Farrer MJ.

Mov Disord. 2015 Feb;30(2):273-8. doi: 10.1002/mds.26064. Epub 2014 Nov 12.

PMID:
25393719
26.

Disease penetrance of late-onset parkinsonism: a meta-analysis.

Trinh J, Guella I, Farrer MJ.

JAMA Neurol. 2014 Dec;71(12):1535-9. doi: 10.1001/jamaneurol.2014.1909.

PMID:
25330418
27.

The role of SNCA and MAPT in Parkinson disease and LRRK2 parkinsonism in the Tunisian Arab-Berber population.

Trinh J, Gustavsson EK, Guella I, Vilariño-Güell C, Evans D, Encarnacion M, Sherman H, Hentati F, Farrer MJ.

Eur J Neurol. 2014 Nov;21(11):e91-2. doi: 10.1111/ene.12489. No abstract available.

PMID:
25303626
28.

Glucocerebrosidase mutations in primary parkinsonism.

Asselta R, Rimoldi V, Siri C, Cilia R, Guella I, Tesei S, Soldà G, Pezzoli G, Duga S, Goldwurm S.

Parkinsonism Relat Disord. 2014 Nov;20(11):1215-20. doi: 10.1016/j.parkreldis.2014.09.003. Epub 2014 Sep 9.

29.

Identification of pathways for bipolar disorder: a meta-analysis.

Nurnberger JI Jr, Koller DL, Jung J, Edenberg HJ, Foroud T, Guella I, Vawter MP, Kelsoe JR; Psychiatric Genomics Consortium Bipolar Group.

JAMA Psychiatry. 2014 Jun;71(6):657-64. doi: 10.1001/jamapsychiatry.2014.176.

30.

Allelic imbalance associated with the schizophrenia risk SNP rs1344706 indicates a cis-acting variant in ZNF804A.

Guella I, Vawter MP.

Schizophr Res. 2014 Mar;153(1-3):243-5. doi: 10.1016/j.schres.2014.01.005. Epub 2014 Jan 23. No abstract available.

31.

Evidence of allelic imbalance in the schizophrenia susceptibility gene ZNF804A in human dorsolateral prefrontal cortex.

Guella I, Sequeira A, Rollins B, Morgan L, Myers RM, Watson SJ, Akil H, Bunney WE, Delisi LE, Byerley W, Vawter MP.

Schizophr Res. 2014 Jan;152(1):111-6. doi: 10.1016/j.schres.2013.11.021. Epub 2013 Dec 7.

32.

Schizophrenia miR-137 locus risk genotype is associated with dorsolateral prefrontal cortex hyperactivation.

van Erp TG, Guella I, Vawter MP, Turner J, Brown GG, McCarthy G, Greve DN, Glover GH, Calhoun VD, Lim KO, Bustillo JR, Belger A, Ford JM, Mathalon DH, Diaz M, Preda A, Nguyen D, Macciardi F, Potkin SG.

Biol Psychiatry. 2014 Mar 1;75(5):398-405. doi: 10.1016/j.biopsych.2013.06.016. Epub 2013 Aug 1.

33.

Analysis of miR-137 expression and rs1625579 in dorsolateral prefrontal cortex.

Guella I, Sequeira A, Rollins B, Morgan L, Torri F, van Erp TG, Myers RM, Barchas JD, Schatzberg AF, Watson SJ, Akil H, Bunney WE, Potkin SG, Macciardi F, Vawter MP.

J Psychiatr Res. 2013 Sep;47(9):1215-21. doi: 10.1016/j.jpsychires.2013.05.021. Epub 2013 Jun 17.

34.

No association of GBA mutations and multiple system atrophy.

Srulijes K, Hauser AK, Guella I, Asselta R, Brockmann K, Schulte C, Soldà G, Cilia R, Maetzler W, Schols L, Wenning GK, Poewe W, Barone P, Wüllner U, Oertel W, Berg D, Goldwurm S, Gasser T.

Eur J Neurol. 2013 Apr;20(4):e61-2. doi: 10.1111/ene.12086. No abstract available.

PMID:
23490118
35.

The Asp620asn mutation in VPS35 is not a common cause of familial Parkinson's disease.

Guella I, Soldà G, Cilia R, Pezzoli G, Asselta R, Duga S, Goldwurm S.

Mov Disord. 2012 May;27(6):800-1. doi: 10.1002/mds.24927. Epub 2012 Jan 25. No abstract available.

PMID:
22278960
36.

SNCA and MAPT genes: Independent and joint effects in Parkinson disease in the Italian population.

Trotta L, Guella I, Soldà G, Sironi F, Tesei S, Canesi M, Pezzoli G, Goldwurm S, Duga S, Asselta R.

Parkinsonism Relat Disord. 2012 Mar;18(3):257-62. doi: 10.1016/j.parkreldis.2011.10.014. Epub 2011 Nov 21.

37.

Common variants in the haemostatic gene pathway contribute to risk of early-onset myocardial infarction in the Italian population.

Guella I, Duga S, Ardissino D, Merlini PA, Peyvandi F, Mannucci PM, Asselta R.

Thromb Haemost. 2011 Oct;106(4):655-64. doi: 10.1160/TH11-04-0247. Epub 2011 Sep 8.

PMID:
21901231
38.

Functional characterization of a novel missense mutation identified in a Turkish patient affected by severe coagulation factor V deficiency.

Paraboschi EM, Kayiran SM, Özbek N, Gürakan B, Peyvandi F, Guella I, Duga S, Asselta R.

Haemophilia. 2012 Mar;18(2):205-10. doi: 10.1111/j.1365-2516.2011.02621.x. Epub 2011 Jul 21.

PMID:
21777354
39.

Identification of the first Alu-mediated large deletion involving the F5 gene in a compound heterozygous patient with severe factor V deficiency.

Guella I, Paraboschi EM, van Schalkwyk WA, Asselta R, Duga S.

Thromb Haemost. 2011 Aug;106(2):296-303. doi: 10.1160/TH11-03-0149. Epub 2011 May 26.

PMID:
21614419
40.

Effects of PCSK9 genetic variants on plasma LDL cholesterol levels and risk of premature myocardial infarction in the Italian population.

Guella I, Asselta R, Ardissino D, Merlini PA, Peyvandi F, Kathiresan S, Mannucci PM, Tubaro M, Duga S.

J Lipid Res. 2010 Nov;51(11):3342-9. doi: 10.1194/jlr.M010009. Epub 2010 Aug 10.

41.

The association of factor V Leiden with myocardial infarction is replicated in 1880 patients with premature disease.

Mannucci PM, Asselta R, Duga S, Guella I, Spreafico M, Lotta L, Merlini PA, Peyvandi F, Kathiresan S, Ardissino D.

J Thromb Haemost. 2010 Oct;8(10):2116-21. doi: 10.1111/j.1538-7836.2010.03982.x.

42.

The PDXK rs2010795 variant is not associated with Parkinson disease in Italy.

Guella I, Asselta R, Tesei S, Zini M, Pezzoli G, Duga S.

Ann Neurol. 2010 Mar;67(3):411-2; author reply 412. doi: 10.1002/ana.21964. No abstract available.

PMID:
20373357
43.

Mutational screening and zebrafish functional analysis of GIGYF2 as a Parkinson-disease gene.

Guella I, Pistocchi A, Asselta R, Rimoldi V, Ghilardi A, Sironi F, Trotta L, Primignani P, Zini M, Zecchinelli A, Coviello D, Pezzoli G, Del Giacco L, Duga S, Goldwurm S.

Neurobiol Aging. 2011 Nov;32(11):1994-2005. doi: 10.1016/j.neurobiolaging.2009.12.016. Epub 2010 Jan 8.

PMID:
20060621
44.

Molecular characterization of in-frame and out-of-frame alternative splicings in coagulation factor XI pre-mRNA.

Asselta R, Rimoldi V, Guella I, Soldà G, De Cristofaro R, Peyvandi F, Duga S.

Blood. 2010 Mar 11;115(10):2065-72. doi: 10.1182/blood-2009-09-245092. Epub 2009 Dec 30.

45.

Association and functional analyses of MEF2A as a susceptibility gene for premature myocardial infarction and coronary artery disease.

Guella I, Rimoldi V, Asselta R, Ardissino D, Francolini M, Martinelli N, Girelli D, Peyvandi F, Tubaro M, Merlini PA, Mannucci PM, Duga S.

Circ Cardiovasc Genet. 2009 Apr;2(2):165-72. doi: 10.1161/CIRCGENETICS.108.819326. Epub 2009 Feb 12.

PMID:
20031581
46.

A novel in-frame deletion in the factor V C1 domain associated with severe coagulation factor V deficiency in a Korean family.

Song J, Guella I, Kwon KY, Cho H, Park R, Asselta R, Choi JR.

Blood Coagul Fibrinolysis. 2009 Mar;20(2):150-6. doi: 10.1097/MBC.0b013e32832545db.

PMID:
19786944
47.

Factor XI deficiency in Southern Iran: identification of a novel missense mutation.

Karimi M, Jafari H, Lahsaeizadeh S, Afrasiabi A, Akbari A, Dehbozorgian J, Ardeshiri R, Guella I, Asselta R, Peyvandi F.

Ann Hematol. 2009 Apr;88(4):359-63. doi: 10.1007/s00277-008-0595-4. Epub 2008 Aug 29.

PMID:
18758779
48.

Molecular characterization of three novel splicing mutations causing factor V deficiency and analysis of the F5 gene splicing pattern.

Dall'Osso C, Guella I, Duga S, Locatelli N, Paraboschi EM, Spreafico M, Afrasiabi A, Pechlaner C, Peyvandi F, Tenchini ML, Asselta R.

Haematologica. 2008 Oct;93(10):1505-13. doi: 10.3324/haematol.12934. Epub 2008 Aug 25.

49.

Molecular characterization of two novel mutations causing factor XI deficiency: A splicing defect and a missense mutation responsible for a CRM+ defect.

Guella I, Soldà G, Spena S, Asselta R, Ghiotto R, Tenchini ML, Castaman G, Duga S.

Thromb Haemost. 2008 Mar;99(3):523-30. doi: 10.1160/TH07-12-0723.

PMID:
18327400

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