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Items: 1 to 50 of 87

1.

The relationship between nosology, etiology and pathogenesis in neurodegenerative diseases.

Hardy J, Gwinn-Hardy K.

Handb Clin Neurol. 2008;89:189-92. doi: 10.1016/S0072-9752(07)01217-1. No abstract available.

PMID:
18631743
2.

Comprehensive screening of a North American Parkinson's disease cohort for LRRK2 mutation.

Johnson J, Paisán-Ruíz C, Lopez G, Crews C, Britton A, Malkani R, Evans EW, McInerney-Leo A, Jain S, Nussbaum RL, Foote KD, Mandel RJ, Crawley A, Reimsnider S, Fernandez HH, Okun MS, Gwinn-Hardy K, Singleton AB.

Neurodegener Dis. 2007;4(5):386-91. Epub 2007 Jul 6.

PMID:
17622782
3.

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans.

van de Leemput J, Chandran J, Knight MA, Holtzclaw LA, Scholz S, Cookson MR, Houlden H, Gwinn-Hardy K, Fung HC, Lin X, Hernandez D, Simon-Sanchez J, Wood NW, Giunti P, Rafferty I, Hardy J, Storey E, Gardner RJ, Forrest SM, Fisher EM, Russell JT, Cai H, Singleton AB.

PLoS Genet. 2007 Jun;3(6):e108. Epub 2007 May 16.

4.

Genotype-phenotype correlation of paroxysmal nonkinesigenic dyskinesia.

Bruno MK, Lee HY, Auburger GW, Friedman A, Nielsen JE, Lang AE, Bertini E, Van Bogaert P, Averyanov Y, Hallett M, Gwinn-Hardy K, Sorenson B, Pandolfo M, Kwiecinski H, Servidei S, Fu YH, Ptácek L.

Neurology. 2007 May 22;68(21):1782-9.

PMID:
17515540
5.

DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers.

Lippa CF, Duda JE, Grossman M, Hurtig HI, Aarsland D, Boeve BF, Brooks DJ, Dickson DW, Dubois B, Emre M, Fahn S, Farmer JM, Galasko D, Galvin JE, Goetz CG, Growdon JH, Gwinn-Hardy KA, Hardy J, Heutink P, Iwatsubo T, Kosaka K, Lee VM, Leverenz JB, Masliah E, McKeith IG, Nussbaum RL, Olanow CW, Ravina BM, Singleton AB, Tanner CM, Trojanowski JQ, Wszolek ZK; DLB/PDD Working Group.

Neurology. 2007 Mar 13;68(11):812-9. Review.

PMID:
17353469
6.

Diagnostic criteria for psychosis in Parkinson's disease: report of an NINDS, NIMH work group.

Ravina B, Marder K, Fernandez HH, Friedman JH, McDonald W, Murphy D, Aarsland D, Babcock D, Cummings J, Endicott J, Factor S, Galpern W, Lees A, Marsh L, Stacy M, Gwinn-Hardy K, Voon V, Goetz C.

Mov Disord. 2007 Jun 15;22(8):1061-8.

PMID:
17266092
7.

How common are the "common" neurologic disorders?

Hirtz D, Thurman DJ, Gwinn-Hardy K, Mohamed M, Chaudhuri AR, Zalutsky R.

Neurology. 2007 Jan 30;68(5):326-37.

PMID:
17261678
8.

BDNF tagging polymorphisms and haplotype analysis in sporadic Parkinson's disease in diverse ethnic groups.

Xiromerisiou G, Hadjigeorgiou GM, Eerola J, Fernandez HH, Tsimourtou V, Mandel R, Hellström O, Gwinn-Hardy K, Okun MS, Tienari PJ, Singleton AB.

Neurosci Lett. 2007 Mar 19;415(1):59-63. Epub 2006 Dec 30.

PMID:
17229524
9.

Pathogenicity of the Lrrk2 R1514Q substitution in Parkinson's disease.

Toft M, Mata IF, Ross OA, Kachergus J, Hulihan MM, Haugarvoll K, Stone JT, Blazquez M, Gibson JM, Aasly JO, White LR, Lynch T, Adler CH, Gwinn-Hardy K, Farrer MJ.

Mov Disord. 2007 Feb 15;22(3):389-92.

PMID:
17216639
10.

Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals.

Simon-Sanchez J, Scholz S, Fung HC, Matarin M, Hernandez D, Gibbs JR, Britton A, de Vrieze FW, Peckham E, Gwinn-Hardy K, Crawley A, Keen JC, Nash J, Borgaonkar D, Hardy J, Singleton A.

Hum Mol Genet. 2007 Jan 1;16(1):1-14. Epub 2006 Nov 20.

PMID:
17116639
11.

Genetics of Parkinson's disease and parkinsonism.

Hardy J, Cai H, Cookson MR, Gwinn-Hardy K, Singleton A.

Ann Neurol. 2006 Oct;60(4):389-98. Review.

PMID:
17068789
12.

Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data.

Fung HC, Scholz S, Matarin M, Simón-Sánchez J, Hernandez D, Britton A, Gibbs JR, Langefeld C, Stiegert ML, Schymick J, Okun MS, Mandel RJ, Fernandez HH, Foote KD, Rodríguez RL, Peckham E, De Vrieze FW, Gwinn-Hardy K, Hardy JA, Singleton A.

Lancet Neurol. 2006 Nov;5(11):911-6.

PMID:
17052657
13.

The SCA17 phenotype can include features of MSA-C, PSP and cognitive impairment.

Lin IS, Wu RM, Lee-Chen GJ, Shan DE, Gwinn-Hardy K.

Parkinsonism Relat Disord. 2007 May;13(4):246-9. Epub 2006 Jun 21.

PMID:
16793320
14.

A MAPT mutation in a regulatory element upstream of exon 10 causes frontotemporal dementia.

Malkani R, D'Souza I, Gwinn-Hardy K, Schellenberg GD, Hardy J, Momeni P.

Neurobiol Dis. 2006 May;22(2):401-3. Epub 2006 Feb 28.

PMID:
16503405
15.

Fostering partnerships: a perspective from the National Institute of Neurologic Disorders and Stroke (NINDS).

Gwinn-Hardy K.

Retina. 2005 Dec;25(8 Suppl):S83. Review. No abstract available.

PMID:
16374354
16.

The human prion gene M129V polymorphism is not associated with idiopathic Parkinson's disease in three distinct populations.

Scholz SW, Xiromerisiou G, Fung HC, Eerola J, Hellström O, Papadimitriou A, Hadjigeorgiou GM, Tienari PJ, Fernandez HH, Mandel R, Okun MS, Gwinn-Hardy K, Singleton AB.

Neurosci Lett. 2006 Mar 13;395(3):227-9. Epub 2005 Nov 18.

PMID:
16298483
17.

Challenges and opportunities in clinical trials for spinal muscular atrophy.

Hirtz D, Iannaccone S, Heemskerk J, Gwinn-Hardy K, Moxley R 3rd, Rowland LP.

Neurology. 2005 Nov 8;65(9):1352-7.

PMID:
16275820
18.

The dardarin G 2019 S mutation is a common cause of Parkinson's disease but not other neurodegenerative diseases.

Hernandez D, Paisan Ruiz C, Crawley A, Malkani R, Werner J, Gwinn-Hardy K, Dickson D, Wavrant Devrieze F, Hardy J, Singleton A.

Neurosci Lett. 2005 Dec 9;389(3):137-9.

PMID:
16102903
19.

Evidence suggesting that Homo neanderthalensis contributed the H2 MAPT haplotype to Homo sapiens.

Hardy J, Pittman A, Myers A, Gwinn-Hardy K, Fung HC, de Silva R, Hutton M, Duckworth J.

Biochem Soc Trans. 2005 Aug;33(Pt 4):582-5. Review.

PMID:
16042549
20.

Analysis of SCA-2 and SCA-3 repeats in Parkinsonism: evidence of SCA-2 expansion in a family with autosomal dominant Parkinson's disease.

Simon-Sanchez J, Hanson M, Singleton A, Hernandez D, McInerney A, Nussbaum R, Werner J, Gallardo M, Weiser R, Gwinn-Hardy K, Singleton AB, Clarimon J.

Neurosci Lett. 2005 Jul 1-8;382(1-2):191-4. Epub 2005 Apr 1.

PMID:
15911147
21.

The role of radiotracer imaging in Parkinson disease.

Ravina B, Eidelberg D, Ahlskog JE, Albin RL, Brooks DJ, Carbon M, Dhawan V, Feigin A, Fahn S, Guttman M, Gwinn-Hardy K, McFarland H, Innis R, Katz RG, Kieburtz K, Kish SJ, Lange N, Langston JW, Marek K, Morin L, Moy C, Murphy D, Oertel WH, Oliver G, Palesch Y, Powers W, Seibyl J, Sethi KD, Shults CW, Sheehy P, Stoessl AJ, Holloway R.

Neurology. 2005 Jan 25;64(2):208-15. Review.

PMID:
15668415
22.

Unaltered alpha-synuclein blood levels in juvenile Parkinsonism with a parkin exon 4 deletion.

Miller DW, Crawley A, Gwinn-Hardy K, Lopez G, Nussbaum R, Cookson MR, Singleton AB, Hardy J, Dogu O.

Neurosci Lett. 2005 Feb 21;374(3):189-91. Epub 2004 Nov 19.

PMID:
15663960
23.

Parkin mutations and early-onset parkinsonism in a Taiwanese cohort.

Wu RM, Bounds R, Lincoln S, Hulihan M, Lin CH, Hwu WL, Chen J, Gwinn-Hardy K, Farrer M.

Arch Neurol. 2005 Jan;62(1):82-7.

PMID:
15642853
24.

Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria.

Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ.

Neurology. 2004 Dec 28;63(12):2280-7. Review.

PMID:
15623687
25.

Analysis of the PINK1 gene in a large cohort of cases with Parkinson disease.

Rogaeva E, Johnson J, Lang AE, Gulick C, Gwinn-Hardy K, Kawarai T, Sato C, Morgan A, Werner J, Nussbaum R, Petit A, Okun MS, McInerney A, Mandel R, Groen JL, Fernandez HH, Postuma R, Foote KD, Salehi-Rad S, Liang Y, Reimsnider S, Tandon A, Hardy J, St George-Hyslop P, Singleton AB.

Arch Neurol. 2004 Dec;61(12):1898-904.

PMID:
15596610
26.

Genome-wide analysis of the parkinsonism-dementia complex of Guam.

Morris HR, Steele JC, Crook R, Wavrant-De Vrièze F, Onstead-Cardinale L, Gwinn-Hardy K, Wood NW, Farrer M, Lees AJ, McGeer PL, Siddique T, Hardy J, Perez-Tur J.

Arch Neurol. 2004 Dec;61(12):1889-97.

PMID:
15596609
27.

Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features.

Hanson M, Honour M, Singleton A, Crawley A, Singleton A, Hardy J, Gwinn-Hardy K.

J Neurol. 2004 Nov;251(11):1398-401.

PMID:
15592737
28.

Genetic testing in Parkinson's disease.

McInerney-Leo A, Hadley DW, Gwinn-Hardy K, Hardy J.

Mov Disord. 2005 Jan;20(1):1-10. Review.

PMID:
15503301
29.

Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study.

Evidente VG, Esteban RP, Hernandez JL, Natividad FF, Advincula J, Gwinn-Hardy K, Hardy J, Singleton A, Singleton A.

Parkinsonism Relat Disord. 2004 Oct;10(7):407-10.

PMID:
15465396
30.

Parkinson's disease and dementia with Lewy bodies: a difference in dose?

Singleton A, Gwinn-Hardy K.

Lancet. 2004 Sep 25-Oct 1;364(9440):1105-7. No abstract available.

PMID:
15451205
31.

Analysis of polyglutamine-coding repeats in the TATA-binding protein in different neurodegenerative diseases.

Wu YR, Fung HC, Lee-Chen GJ, Gwinn-Hardy K, Ro LS, Chen ST, Hsieh-Li HM, Lin HY, Lin CY, Li SN, Chen CM.

J Neural Transm (Vienna). 2005 Apr;112(4):539-46. Epub 2004 Sep 10.

PMID:
15365789
32.

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies.

Johnson J, Hague SM, Hanson M, Gibson A, Wilson KE, Evans EW, Singleton AA, McInerney-Leo A, Nussbaum RL, Hernandez DG, Gallardo M, McKeith IG, Burn DJ, Ryu M, Hellstrom O, Ravina B, Eerola J, Perry RH, Jaros E, Tienari P, Weiser R, Gwinn-Hardy K, Morris CM, Hardy J, Singleton AB.

Neurology. 2004 Aug 10;63(3):554-6.

PMID:
15304594
33.

DNA haplotype analysis of CAG repeat in Taiwanese Huntington's disease patients.

Wang CK, Wu YR, Hwu WL, Chen CM, Ro LS, Chen ST, Gwinn-Hardy K, Yang CC, Wu RM, Chen TF, Wang HC, Chao MC, Chiu MJ, Lu CJ, Lee-Chen GJ.

Eur Neurol. 2004;52(2):96-100. Epub 2004 Jul 22.

PMID:
15273431
34.

A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion.

Dogu O, Johnson J, Hernandez D, Hanson M, Hardy J, Apaydin H, Özekmekçi S, Sevim S, Gwinn-Hardy K, Singleton A.

Mov Disord. 2004 Jul;19(7):812-816. doi: 10.1002/mds.20028.

PMID:
15254940
35.

Prevalence of Parkinson's disease in populations of African ancestry: a review.

McInerney-Leo A, Gwinn-Hardy K, Nussbaum RL.

J Natl Med Assoc. 2004 Jul;96(7):974-9. Review.

36.

Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2).

Furtado S, Payami H, Lockhart PJ, Hanson M, Nutt JG, Singleton AA, Singleton A, Bower J, Utti RJ, Bird TD, de la Fuente-Fernandez R, Tsuboi Y, Klimek ML, Suchowersky O, Hardy J, Calne DB, Wszolek ZK, Farrer M, Gwinn-Hardy K, Stoessl AJ.

Mov Disord. 2004 Jun;19(6):622-9. Review.

PMID:
15197699
37.

Alpha-synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication.

Miller DW, Hague SM, Clarimon J, Baptista M, Gwinn-Hardy K, Cookson MR, Singleton AB.

Neurology. 2004 May 25;62(10):1835-8.

PMID:
15159488
38.

Limb cooling and focal dystonia.

Evidente VG, Cooper C, Gwinn-Hardy K.

Mov Disord. 2004 Feb;19(2):238. No abstract available.

PMID:
14978687
39.

Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease.

Bruno MK, Ravina B, Garraux G, Hallett M, Ptacek L, Singleton A, Johnson J, Singleton A, Hanson M, Considine E, Gwinn-Hardy K.

Mov Disord. 2004 Feb;19(2):228-30.

PMID:
14978684
40.

Genetic testing in spinocerebellar ataxia in Taiwan: expansions of trinucleotide repeats in SCA8 and SCA17 are associated with typical Parkinson's disease.

Wu YR, Lin HY, Chen CM, Gwinn-Hardy K, Ro LS, Wang YC, Li SH, Hwang JC, Fang K, Hsieh-Li HM, Li ML, Tung LC, Su MT, Lu KT, Lee-Chen GJ.

Clin Genet. 2004 Mar;65(3):209-14.

PMID:
14756671
41.

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications.

Farrer M, Kachergus J, Forno L, Lincoln S, Wang DS, Hulihan M, Maraganore D, Gwinn-Hardy K, Wszolek Z, Dickson D, Langston JW.

Ann Neurol. 2004 Feb;55(2):174-9.

PMID:
14755720
42.

Association between cardiac denervation and parkinsonism caused by alpha-synuclein gene triplication.

Singleton A, Gwinn-Hardy K, Sharabi Y, Li ST, Holmes C, Dendi R, Hardy J, Singleton A, Crawley A, Goldstein DS.

Brain. 2004 Apr;127(Pt 4):768-72. Epub 2004 Jan 21.

PMID:
14736756
43.

When is ataxia not ataxia?

Gwinn-Hardy K.

Arch Neurol. 2004 Jan;61(1):25-6. Review. No abstract available.

PMID:
14732614
44.

alpha-Synuclein locus triplication causes Parkinson's disease.

Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K.

Science. 2003 Oct 31;302(5646):841. No abstract available.

45.

Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation.

Hague S, Rogaeva E, Hernandez D, Gulick C, Singleton A, Hanson M, Johnson J, Weiser R, Gallardo M, Ravina B, Gwinn-Hardy K, Crawley A, St George-Hyslop PH, Lang AE, Heutink P, Bonifati V, Hardy J, Singleton A.

Ann Neurol. 2003 Aug;54(2):271-4.

PMID:
12891685
46.

Mutation at the SCA17 locus is not a common cause of parkinsonism.

Hernandez D, Hanson M, Singleton A, Gwinn-Hardy K, Freeman J, Ravina B, Doheny D, Gallardo M, Weiser R, Hardy J, Singleton A.

Parkinsonism Relat Disord. 2003 Aug;9(6):317-20.

PMID:
12853230
47.

Hereditary dysautonomias: current knowledge and collaborations for the future.

Cuajungco MP, Ando Y, Axelrod FB, Biaggioni I, Goldstein DS, Guttmacher AE, Gwinn-Hardy K, Hahn MK, Hilz MJ, Jacob G, Jens J, Kennedy WR, Liggett SB, O'Connor DT, Peltzer SR, Robertson D, Rubin BY, Scudder Q, Smith LJ, Sonenshein GE, Svejstrup JQ, Xu Y, Slaugenhaupt SA.

Clin Auton Res. 2003 Jun;13(3):180-95. Review.

PMID:
12822040
48.

Ethnic differences and disease phenotypes.

Hardy J, Singleton A, Gwinn-Hardy K.

Science. 2003 May 2;300(5620):739-40. No abstract available.

PMID:
12730580
49.

SCA2 may present as levodopa-responsive parkinsonism.

Payami H, Nutt J, Gancher S, Bird T, McNeal MG, Seltzer WK, Hussey J, Lockhart P, Gwinn-Hardy K, Singleton AA, Singleton AB, Hardy J, Farrer M.

Mov Disord. 2003 Apr;18(4):425-9.

PMID:
12671950
50.

Accurate determination of ataxin-2 polyglutamine expansion in patients with intermediate-range repeats.

Hussey J, Lockhart PJ, Seltzer W, Wszolek ZK, Payami H, Hanson M, Gwinn-Hardy K, Farrer M.

Genet Test. 2002 Fall;6(3):217-20.

PMID:
12490063

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