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Article

Abbruzzese, G; Agid, Y; Albanese, A; Alf, C; Allen, R; Amar, K; de Andrade, LA; (2001) An open letter to the Committee on the Nobel Prize in Medicine. PARKINSONISM & RELATED DISORDERS , 7 (2) 149 - 155.

Abraham, R; Myers, A; Wavrant-DeVrieze, F; Hamshere, ML; Thomas, HV; Marshall, H; Compton, D; (2001) Substantial linkage disequilibrium across the insulin-degrading enzyme locus but no association with late-onset Alzheimer's disease. Hum Genet , 109 (6) 646 - 652. 10.1007/s00439-001-0614-1.

Adighibe, O; Arepalli, S; Duckworth, J; Hardy, J; Wavrant-De Vrièze, F; (2006) Genetic variability at the LXR gene (NR1H2) may contribute to the risk of Alzheimer's disease. Neurobiol Aging , 27 (10) 1431 - 1434. 10.1016/j.neurobiolaging.2005.08.010.

Adlkofer, F; Aguzzi, A; Baumeister, R; Haass, C; Silva, ODE; DeStrooper, B; Dotti, C; (2002) Early diagnosis of Alzheimer's disease and related dementia (DIADEM) - A research network funded by the European Union. NEUROBIOL AGING , 23 (1) S383 - S383.

Adroer, R; Lopez-Acedo, C; Oliva, R; Hardy, J; Fidani, L; (1993) A novel silent variant at codon 711 and a variant at codon 708 of the APP sequence detected in Spanish Alzheimer and control cases. Neurosci Lett , 150 (1) 33 - 34.

Aggarwal, A; Schneider, SA; Houlden, H; Silverdale, M; Paudel, R; Paisan-Ruiz, C; Desai, S; (2010) Indian-Subcontinent NBIA: Unusual Phenotypes, Novel PANK2 Mutations, and Undetermined Genetic Forms. MOVEMENT DISORD , 25 (10) 1424 - 1431. 10.1002/mds.23095.

Ahmed, R; Guerreiro, R; Rohrer, JD; Guven, G; Rossor, MN; Hardy, J; Fox, NC; (2013) A novel A781V mutation in the CSF1R gene causes hereditary diffuse leucoencephalopathy with axonal spheroids. Journal of the Neurological Sciences , 332 (1-2) pp. 141-144. 10.1016/j.jns.2013.06.007. Green open access
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Almqvist, P; Carlsson, SR; Hardy, JA; Winblad, B; (1986) Regional and subcellular distribution of Thy-1 in human brain assayed by a solid-phase radioimmunoassay. J Neurochem , 46 (3) 681 - 685.

Amtul, Z; Lewis, PA; Piper, S; Crook, R; Baker, M; Findlay, K; Singleton, A; (2002) A presenilin 1 mutation associated with familial frontotemporal dementia inhibits gamma-secretase cleavage of APP and notch. Neurobiol Dis , 9 (2) 269 - 273. 10.1006/nbdi.2001.0473.

Andreasson, U; Lautner, R; Mattsson, N; Wallin, A; Blennow, K; Zetterberg, H; Schott, JM; (2014) CSF biomarkers for Alzheimer's pathology and the effect size of APOE ε4. Molecular Psychiatry , 19 (2) 148 - 149. 10.1038/mp.2013.18.

Andreasson, U; Lautner, R; Schott, JM; Mattsson, N; Hansson, O; Herukka, SK; Helisalmi, S; (2014) CSF biomarkers for Alzheimer's pathology and the effect size of APOE ɛ4. Mol Psychiatry , 19 (2) 148 - 149. 10.1038/mp.2013.18.

Angeli, A; Mencacci, NE; Duran, R; Aviles-Olmos, I; Kefalopoulou, Z; Candelario, J; Rusbridge, S; (2013) Genotype and phenotype in Parkinson's disease: Lessons in heterogeneity from deep brain stimulation. Movement Disorders , 28 (10) pp. 1370-1375. 10.1002/mds.25535. Green open access
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Antonarakis, SE; Chakravarti, A; Cohen, JC; Hardy, J; (2010) Mendelian disorders and multifactorial traits: the big divide or one for all? NAT REV GENET , 11 (5) 380 - 384. 10.1038/nrg2793.

BARTON, A; HARDY, J; (1987) STABILITY OF BRAIN-RNA POSTMORTEM - EFFECT OF ALZHEIMERS-DISEASE. BIOCHEMICAL SOCIETY TRANSACTIONS , 15 (3) 558 - 559.

BROWN, J; ASHWORTH, A; GYDESEN, S; SORENSEN, A; ROSSOR, M; HARDY, J; COLLINGE, J; (1995) FAMILIAL NONSPECIFIC DEMENTIA MAPS TO CHROMOSOME-3. HUM MOL GENET , 4 (9) 1625 - 1628.

BROWN, J; GYDESEN, S; SORENSEN, SA; BRUN, A; DUFF, K; HOULDEN, H; FIDANI, L; (1993) EXCLUSION MAPPING IN FAMILIAL NONSPECIFIC DEMENTIA. DEMENTIA , 4 (3-4) 163 - 166.

BROWN, J; GYDESEN, S; SORENSEN, SA; BRUN, A; SMITH, S; HOULDEN, H; TWELLS, R; (1993) GENETIC-CHARACTERIZATION OF A FAMILIAL NONSPECIFIC DEMENTIA ORIGINATING IN JUTLAND, DENMARK. J NEUROL SCI , 114 (2) 138 - 143.

Baker, M; Graff-Radford, D; Wavrant DeVrièze, F; Graff-Radford, N; Petersen, RC; Kokmen, E; Boeve, B; (2000) No association between TAU haplotype and Alzheimer's disease in population or clinic based series or in familial disease. Neurosci Lett , 285 (2) 147 - 149.

Baker, M; Kwok, JBJ; Kucera, S; Crook, R; Farrer, M; Houlden, H; Isaacs, A; (1997) Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22. ANN NEUROL , 42 (5) 794 - 798.

Baker, M; Litvan, I; Houlden, H; Adamson, J; Dickson, D; Perez-Tur, J; Hardy, J; (1999) Association of an extended haplotype in the tau gene with progressive supranuclear palsy. HUM MOL GENET , 8 (4) 711 - 715.

Balazs, R; Vernon, J; Hardy, J; (2011) Epigenetic mechanisms in Alzheimer's disease: progress but much to do. NEUROBIOL AGING , 32 (7) 1181 - 1187. 10.1016/j.neurobiolaging.2011.02.024.

Bandopadhyay, R; Kingsbury, AE; Cookson, MR; Reid, AR; Evans, IM; Hope, AD; Pittman, AM; (2004) The expression of DJ-1 (PARK7) in normal human CNS and idiopathic Parkinson's disease. BRAIN , 127 420 - 430. 10.1093/brain/awh054.

Baptista, MJ; O'Farrell, C; Daya, S; Ahmad, R; Miller, DW; Hardy, J; Farrer, MJ; (2003) Co-ordinate transcriptional regulation of dopamine synthesis genes by alpha-synuclein in human neuroblastoma cell lines. J Neurochem , 85 (4) 957 - 968.

Baptista, MJ; O'Farrell, C; Hardy, J; Cookson, MR; (2003) Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA. Neurosci Lett , 343 (1) 5 - 8.

Bartolome, F; Wu, H-C; Burchell, VS; Preza, E; Wray, S; Houlden, H; Hardy, J; (2013) Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028.

Bartolome, F; Wu, HC; Burchell, VS; Preza, E; Wray, S; Mahoney, CJ; Fox, NC; (2013) Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028. Green open access
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Barton, AJ; Crook, BW; Karran, EH; Brown, F; Dewar, D; Mann, DM; Pearson, RC; (1996) Alteration in brain presenilin 1 mRNA expression in early onset familial Alzheimer's disease. Neurodegeneration , 5 (3) 213 - 218.

Barton, AJ; Harrison, PJ; Najlerahim, A; Heffernan, J; McDonald, B; Robinson, JR; Davies, DC; (1990) Increased tau messenger RNA in Alzheimer's disease hippocampus. Am J Pathol , 137 (3) 497 - 502.

Baum, AE; Akula, N; Cabanero, M; Cardona, I; Corona, W; Klemens, B; Schulze, TG; (2008) A genome-wide association study implicates diacylglycerol kinase eta (DGKH) and several other genes in the etiology of bipolar disorder. Mol Psychiatry , 13 (2) 197 - 207. 10.1038/sj.mp.4002012.

Beck, J; Pittman, A; Adamson, G; Campbell, T; Kenny, J; Houlden, H; Rohrer, JD; (2014) Validation of next-generation sequencing technologies in genetic diagnosis of dementia. Neurobiol Aging , 35 (1) 261 - 265. 10.1016/j.neurobiolaging.2013.07.017.

Beck, J; Poulter, M; Hensman, D; Rohrer, JD; Mahoney, CJ; Adamson, G; Campbell, T; (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet , 92 (3) 345 - 353. 10.1016/j.ajhg.2013.01.011.

Beck, J; Poulter, M; Hensman, D; Rohrer, JD; Mahoney, CJ; Adamson, G; Campbell, T; (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. Am J Hum Genet , 92 (3) 345 - 353. 10.1016/j.ajhg.2013.01.011.

Beecham, GW; Hamilton, K; Naj, AC; Martin, ER; Huentelman, M; Myers, AJ; Corneveaux, JJ; (2014) Genome-Wide Association Meta-analysis of Neuropathologic Features of Alzheimer's Disease and Related Dementias. PLoS Genetics , 10 (9) , Article e1004606. 10.1371/journal.pgen.1004606. Green open access
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Beilina, A; Rudenko, IN; Kaganovich, A; Civiero, L; Chau, H; Kalia, SK; Kalia, LV; (2014) Unbiased screen for interactors of leucine-rich repeat kinase 2 supports a common pathway for sporadic and familial Parkinson disease. Proc Natl Acad Sci U S A , 111 (7) 2626 - 2631. 10.1073/pnas.1318306111.

Benitez, BA; Jin, SC; Guerreiro, R; Graham, R; Lord, J; Harold, D; Sims, R; (2014) Missense variant in TREML2 protects against Alzheimer's disease. Neurobiol Aging , 35 (6) 1510.e19 - 1510.e26. 10.1016/j.neurobiolaging.2013.12.010.

Benitez, BA; Jin, SC; Harari, O; Bertelsen, S; Goate, AM; Cruchaga, C; Fagan, AM; (2014) Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging , 35 (6) 10.1016/j.neurobiolaging.2013.12.010.

Benitez, BA; Jin, SC; Harari, O; Bertelsen, S; Goate, AM; Cruchaga, C; Fagan, AM; (2014) Missense variant in TREML2 protects against Alzheimer's disease. Neurobiology of Aging , 35 (6) 10.1016/j.neurobiolaging.2013.12.010.

Berg, D; Gasser, T; Postuma, RB; Bloem, B; Chan, P; Dubois, B; Goetz, CG; (2014) Time to redefine PD? Introductory statement of the MDS Task Force on the definition of Parkinson's disease. Movement Disorders , 29 (4) 454 - 462. 10.1002/mds.25844.

Berg, D; Postuma, RB; Bloem, B; Chan, P; Dubois, B; Gasser, T; Goetz, CG; (2014) Time to redefine PD? Introductory statement of the MDS Task Force on the definition of Parkinson's disease. Mov Disord , 29 (4) 454 - 462. 10.1002/mds.25844.

Bettencourt, C; Morris, HR; Singleton, AB; Hardy, J; Houlden, H; (2013) Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. Journal of Neurology , 260 (9) pp. 2414-2416. 10.1007/s00415-013-7044-6. Green open access
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Bettencourt, C; Morris, HR; Singleton, AB; Hardy, J; Houlden, H; (2013) Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment. J Neurol , 260 (9) 2414 - 2416. 10.1007/s00415-013-7044-6.

Bettencourt, C; Ryten, M; Forabosco, P; Schorge, S; Hersheson, J; Hardy, J; Houlden, H; (2014) Insights from cerebellar transcriptomic analysis into the pathogenesis of ataxia. JAMA Neurol , 71 (7) 831 - 839. 10.1001/jamaneurol.2014.756.

Blennow, K; Hardy, J; Zetterberg, H; (2012) The neuropathology and neurobiology of traumatic brain injury. Neuron , 76 (5) 886 - 899. 10.1016/j.neuron.2012.11.021.

Blom, ES; Giedraitis, V; Arepalli, S; Hamshere, ML; Adighibe, O; Goate, A; Williams, J; (2009) Further analysis of previously implicated linkage regions for Alzheimer's disease in affected relative pairs. BMC Med Genet , 10 122 - ?. 10.1186/1471-2350-10-122. Gold open access

Blom, ES; Holmans, P; Arepalli, S; Adighibe, O; Hamshere, ML; Gatz, M; Pedersen, NL; (2008) Does APOE explain the linkage of Alzheimer's disease to chromosome 19q13? Am J Med Genet B Neuropsychiatr Genet , 147B (6) 778 - 783. 10.1002/ajmg.b.30681.

Bobb, AJ; Addington, AM; Sidransky, E; Gornick, MC; Lerch, JP; Greenstein, DK; Clasen, LS; (2005) Support for association between ADHD and two candidate genes: NET1 and DRD1. Am J Med Genet B Neuropsychiatr Genet , 134B (1) 67 - 72. 10.1002/ajmg.b.30142.

Boeve, BF; Maraganore, DM; Parisi, JE; Ivnik, RJ; Westmoreland, BF; Dickson, DW; Hutton, M; (2002) Corticobasal degeneration and frontotemporal dementia presentations in a kindred with nonspecific histopathology. Dement Geriatr Cogn Disord , 13 (2) 80 - 90.

Boutoleau-Bretonnière, C; Camuzat, A; Le Ber, I; Bouya-Ahmed, K; Guerreiro, R; Deruet, AL; Evrard, C; (2015) A phenotype of atypical apraxia of speech in a family carrying SQSTM1 mutation. J Alzheimers Dis , 43 (2) 625 - 630. 10.3233/JAD-141512. Green open access
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Bradford, HF; Foley, P; Docherty, M; Fillit, H; Luine, VN; McEwen, B; Bucht, G; (1989) Antibodies in serum of patients with Alzheimer's disease cause immunolysis of cholinergic nerve terminals from the rat cerebral cortex. Can J Neurol Sci , 16 (4 Suppl) 528 - 534.

Bras, J; Alonso, I; Barbot, C; Costa, MM; Darwent, L; Orme, T; Sequeiros, J; (2015) Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. Am J Hum Genet , 96 (3) 474 - 479. 10.1016/j.ajhg.2015.01.005.

Bras, J; Darwent, L; Orme, T; Hardy, J; Guerreiro, R; Alonso, I; Barbot, C; (2015) Mutations in PNKP cause recessive ataxia with oculomotor apraxia type 4. American Journal of Human Genetics , 96 (3) 474 - 479. 10.1016/j.ajhg.2015.01.005. Green open access
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Bras, J; Guerreiro, R; Darwent, L; Parkkinen, L; Ansorge, O; Escott-Price, V; Hernandez, DG; (2014) Genetic analysis implicates APOE, SNCA and suggests lysosomal dysfunction in the etiology of dementia with Lewy bodies. Hum Mol Genet , 23 (23) 6139 - 6146. 10.1093/hmg/ddu334. Green open access
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Bras, J; Guerreiro, R; Hardy, J; (2012) Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease. Nat Rev Neurosci , 13 (7) 453 - 464. 10.1038/nrn3271.

Bras, J; Guerreiro, R; Ribeiro, M; Morgadinho, A; Januario, C; Dias, M; Calado, A; (2008) Analysis of Parkinson disease patients from Portugal for mutations in SNCA, PRKN, PINK1 and LRRK2. BMC Neurology , 8 , Article 1. 10.1186/1471-2377-8-1. Green open access
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Bras, J; Singleton, A; Cookson, MR; Hardy, J; (2008) Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease. FEBS J , 275 (23) 5767 - 5773. 10.1111/j.1742-4658.2008.06709.x.

Bras, JM; Guerreiro, RJ; Ribeiro, MH; Januario, C; Morgadinho, A; Oliveira, CR; Cunha, L; (2005) G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. MOVEMENT DISORD , 20 (12) 1653 - 1655.

Brown, AM; Gordon, D; Lee, H; Caudy, M; Hardy, J; Haroutunian, V; Blass, JP; (2004) Association of the dihydrolipoamide dehydrogenase gene with Alzheimer's disease in an Ashkenazi Jewish population. Am J Med Genet B Neuropsychiatr Genet , 131B (1) 60 - 66. 10.1002/ajmg.b.30008.

Brown, AM; Gordon, D; Lee, H; Wavrant-De Vrièze, F; Cellini, E; Bagnoli, S; Nacmias, B; (2007) Testing for linkage and association across the dihydrolipoyl dehydrogenase gene region with Alzheimer's disease in three sample populations. Neurochem Res , 32 (4-5) 857 - 869. 10.1007/s11064-006-9235-3.

Bruni, AC; Momeni, P; Bernardi, L; Tomaino, C; Frangipane, F; Elder, J; Kawarai, T; (2007) Heterogeneity within a large kindred with frontotemporal dementia: a novel progranulin mutation. Neurology , 69 (2) 140 - 147. 10.1212/01.wnl.0000265220.64396.b4.

Brás, J; Guerreiro, R; Hardy, J; (2015) SnapShot: Genetics of Parkinson's disease. Cell , 160 (3) 570 - 570.e1. 10.1016/j.cell.2015.01.019.

Brändl, B; Schneider, SA; Loring, JF; Hardy, J; Gribbon, P; Müller, FJ; (2015) Stem cell reprogramming: Basic implications and future perspective for movement disorders. Mov Disord , 30 (3) 301 - 312. 10.1002/mds.26113.

Burchell, VS; Delgado-Camprubi, M; Wray, S; Lewis, PA; Houlden, H; Abramov, AY; Hardy, J; (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nature Neuroscience , 16 (9) 1257 - 1265. 10.1038/nn.3489.

Burchell, VS; Nelson, DE; Sanchez-Martinez, A; Delgado-Camprubi, M; Ivatt, RM; Pogson, JH; Randle, SJ; (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. Nat Neurosci , 16 (9) 1257 - 1265. 10.1038/nn.3489.

Busby, J; O'Brien, KK; Gibson, AM; McKeith, IG; Perry, RH; Hardy, JA; Singleton, AB; (2004) Dementia with Lewy bodies: no association of polymorphisms in the human synphilin gene. Neurogenetics , 5 (4) 251 - 252. 10.1007/s10048-004-0188-x.

Busby, V; Goossens, S; Nowotny, P; Hamilton, G; Smemo, S; Harold, D; Turic, D; (2004) Alpha-T-catenin is expressed in human brain and interacts with the Wnt signaling pathway but is not responsible for linkage to chromosome 10 in Alzheimer's disease. Neuromolecular Med , 5 (2) 133 - 146. 10.1385/NMM:5:2:133.

CHARTIER-HARLIN, M; CRAWFORD, F; PERL, D; STEELE, J; HARDY, J; (1993) SEQUENCING OF EXON-16 AND EXON-17 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE REVEALS THE BETA-AMYLOID SEQUENCE TO BE NORMAL IN CASES OF THE PARKINSON DEMENTIA COMPLEX OF GUAM. JOURNAL OF NEURAL TRANSMISSION-PARKINSONS DISEASE AND DEMENTIA SECTION , 5 (1) 63 - 65. 10.1007/BF02260915.

CHARTIERHARLIN, MC; CRAWFORD, F; HOULDEN, H; WARREN, A; HUGHES, D; FIDANI, L; GOATE, A; (1991) EARLY-ONSET ALZHEIMERS-DISEASE CAUSED BY MUTATIONS AT CODON-717 OF THE BETA-AMYLOID PRECURSOR PROTEIN GENE. NATURE , 353 (6347) 844 - 846.

CLARK, RF; HUTTON, M; FULDNER, RA; FROELICH, S; KARRAN, E; TALBOT, C; CROOK, R; (1995) THE STRUCTURE OF THE PRESENILIN-1 (S182) GENE AND IDENTIFICATION OF 6 NOVEL MUTATIONS IN EARLY-ONSET AD FAMILIES. NAT GENET , 11 (2) 219 - 222.

COLLINGE, J; BROWN, J; HARDY, J; MULLAN, M; ROSSOR, MN; BAKER, H; CROW, TJ; (1992) INHERITED PRION DISEASE WITH 144 BASE PAIR GENE INSERTION .2. CLINICAL AND PATHOLOGICAL FEATURES. BRAIN , 115 687 - 710.

COLLINGE, J; OWEN, F; POULTER, M; LEACH, M; CROW, TJ; ROSSOR, MN; HARDY, J; (1990) PRION DEMENTIA WITHOUT CHARACTERISTIC PATHOLOGY. LANCET , 336 (8706) 7 - 9.

COLLINGE, J; PALMER, MS; SIDLE, KCL; MAHAL, SP; CAMPBELL, T; BROWN, J; HARDY, J; (1994) FAMILIAL PICKS-DISEASE AND DEMENTIA IN FRONTAL-LOBE DEGENERATION OF NON-ALZHEIMER TYPE ARE NOT VARIANTS OF PRION DISEASE. J NEUROL NEUROSUR PS , 57 (6) 762 - 762.

COWBURN, R; BARTON, A; HARDY, J; WESTER, P; WINBLAD, B; (1987) REGION-SPECIFIC DEFECTS IN GLUTAMATE AND GAMMA-AMINOBUTYRIC-ACID INNERVATION IN ALZHEIMERS-DISEASE. BIOCHEMICAL SOCIETY TRANSACTIONS , 15 (3) 505 - 506.

Camargos, S; Scholz, S; Simon-Sanchez, J; Paisan-Ruiz, C; Lewis, P; Hernandez, D; Ding, J; (2008) DYT16, a novel young-onset dystonia-parkinson ism disorder: identification of a segregating mutation in the stress-response protein PRKRA. LANCET NEUROL , 7 (3) 207 - 215. 10.1016/S1474-4422(08)70022-X.

Camargos, S; Scholz, S; Simón-Sánchez, J; Paisán-Ruiz, C; Lewis, P; Hernandez, D; Ding, J; (2008) DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. The Lancet Neurology , 7 (3) 207 - 215. 10.1016/S1474-4422(08)70022-X.

Camargos, ST; Cardoso, F; Momeni, P; Gianetti, JG; Lees, A; Hardy, J; Singleton, A; (2008) Novel GCH1 mutation in a Brazilian family with dopa-responsive dystonia. MOVEMENT DISORD , 23 (2) 299 - 302. 10.1002/mds.21842.

Camargos, ST; Dornas, LO; Momeni, P; Lees, A; Hardy, J; Singleton, A; Cardoso, F; (2009) Familial Parkinsonism and Early Onset Parkinson's Disease in a Brazilian Movement Disorders Clinic: Phenotypic Characterization and Frequency of SNCA, PRKN, PINK1, and LRRK2 Mutations. MOVEMENT DISORD , 24 (5) 662 - 666. 10.1002/mds.22365.

Camargos, ST; Gurgel-Giannetti, J; Lees, A; Hardy, J; Singleton, A; Cardoso, F; (2011) Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI. J Neurol Neurosurg Psychiatry , 82 (9) 1059 - 1060. 10.1136/jnnp.2009.200808.

Casas, JP; Hingorani, AD; (2012) The interleukin-6 receptor as a target for prevention of coronary heart disease: a mendelian randomisation analysis. Lancet , 379 (9822) 1214 - 1224. 10.1016/S0140-6736(12)60110-X. Green open access
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Caselli, RJ; Hentz, JG; Osborne, D; Graff-Radford, NR; Barbieri, CJ; Alexander, GE; Hall, GR; (2002) Apolipoprotein E and intellectual achievement. J Am Geriatr Soc , 50 (1) 49 - 54.

Caselli, RJ; Osborne, D; Reiman, EM; Hentz, JG; Barbieri, CJ; Saunders, AM; Hardy, J; (2001) Preclinical cognitive decline in late middle-aged asymptomatic apolipoprotein E-e4/4 homozygotes: a replication study. J Neurol Sci , 189 (1-2) 93 - 98.

Chang, C-W; Hsu, W-C; Wu, Y-R; Fung, H-C; Pittman, A; Hardy, J; Structural study of the microtubule-associated protein tau locus of Alzheimer′s disease in Taiwan. Biomedical Journal , 37 (3) 127 - 132. 10.4103/2319-4170.117891. Gold open access

Charlesworth, G; Gandhi, S; Bras, JM; Barker, RA; Burn, DJ; Chinnery, PF; Gentleman, SM; (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging , 33 (4) 838.e7 - 838.11. 10.1016/j.neurobiolaging.2011.11.001.

Charlesworth, G; Gandhi, S; Bras, JM; Guerreiro, R; Hardy, J; Sheerin, U-M; Wood, NW; (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiology of Aging , 33 (4) 10.1016/j.neurobiolaging.2011.11.001.

Chartier-Harlin, MC; Crawford, F; Hamandi, K; Mullan, M; Goate, A; Hardy, J; Backhovens, H; (1991) Screening for the beta-amyloid precursor protein mutation (APP717: Val----Ile) in extended pedigrees with early onset Alzheimer's disease. Neurosci Lett , 129 (1) 134 - 135.

Chibnik, LB; Shulman, JM; Leurgans, SE; Schneider, JA; Wilson, RS; Tran, D; Aubin, C; (2011) CR1 Is Associated with Amyloid Plaque Burden and Age-Related Cognitive Decline. ANN NEUROL , 69 (3) 560 - 569. 10.1002/ana.22277.

Chio, A; Schymick, JC; Restagno, G; Scholz, SW; Lombardo, F; Lai, SL; Mora, G; (2009) A two-stage genome-wide association study of sporadic amyotrophic lateral sclerosis. HUM MOL GENET , 18 (8) 1524 - 1532. 10.1093/hmg/ddp059.

Choi, P; Golts, N; Snyder, H; Chong, M; Petrucelli, L; Hardy, J; Sparkman, D; (2001) Co-association of parkin and alpha-synuclein. Neuroreport , 12 (13) 2839 - 2843.

Clarimon, J; Asgeirsson, H; Singleton, A; Jakobsson, F; Hjaltason, H; Hardy, J; Sveinbjornsdottir, S; (2005) Torsin A haplotype predisposes to idiopathic dystonia. Ann Neurol , 57 (5) 765 - 767. 10.1002/ana.20485.

Clarimon, J; Djaldetti, R; Lleo, A; Guerreiro, RJ; Molinuevo, JL; Paisan-Ruiz, C; Gomez-Isla, T; (2009) Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. Neurobiology of Aging , 30 (12) 1986 - 1991. 10.1016/j.neurobiolaging.2008.02.008.

Clarimon, J; Djaldetti, R; Lleo, A; Guerreiro, RJ; Molinuevo, JL; Paisan-Ruiz, C; Gomez-Isla, T; (2009) Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. NEUROBIOL AGING , 30 (12) 1986 - 1991. 10.1016/j.neurobiolaging.2008.02.008.

Clarimon, J; Johnson, J; Dogu, O; Horta, W; Khan, N; Lees, AJ; Hardy, J; (2005) Defining the ends of Parkin Exon 4 deletions in two different families with Parkinson's disease. AM J MED GENET B , 133B (1) 120 - 123. 10.1002/ajmg.b.30119.

Clarimon, J; Scholz, S; Fung, HC; Hardy, J; Eerola, J; Hellstrom, O; Chen, CM; (2006) Conflicting results regarding the semaphorin gene (SEMA5A) and the risk for Parkinson disease. Am J Hum Genet , 78 (6) 1082 - 1084. 10.1086/504727.

Clark, LN; Afridi, S; Mejia-Santana, H; Harris, J; Louis, ED; Cote, LJ; Andrews, H; (2004) Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. Mov Disord , 19 (7) 796 - 800. 10.1002/mds.20131.

Cleeter, MW; Chau, KY; Gluck, C; Mehta, A; Hughes, DA; Duchen, M; Wood, NW; (2013) Glucocerebrosidase inhibition causes mitochondrial dysfunction and free radical damage. Neurochem Int , 62 (1) 1 - 7. 10.1016/j.neuint.2012.10.010. Gold open access

Coleman, P; Kurlan, R; Crook, R; Werner, J; Hardy, J; (2004) A new presenilin Alzheimer's disease case confirms the helical alignment of pathogenic mutations in transmembrane domain 5. Neurosci Lett , 364 (3) 139 - 140. 10.1016/j.neulet.2004.04.030.

Compton, D; DeVrieze, FW; Petersen, RC; Tangalos, E; Li, L; Hardy, J; (2002) Possible association between genetic variability at the apolipoprotein(a) locus and Alzheimer's disease in apolipoprotein E2 carriers. NEUROSCI LETT , 331 (1) 60 - 62.

Cookson, MR; Hardy, J; (2006) The persistence of memory. N Engl J Med , 355 (25) 2697 - 2698. 10.1056/NEJMcibr065999.

Cookson, MR; Hardy, J; Lewis, PA; (2008) Genetic Neuropathology of Parkinson's Disease. INT J CLIN EXP PATHO , 1 (3) 217 - 231. Gold open access

Coon, KD; Myers, AJ; Craig, DW; Webster, JA; Pearson, JV; Lince, DH; Zismann, VL; (2007) A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J Clin Psychiatry , 68 (4) 613 - 618.

Cooper-Knock, J; Hewitt, C; Highley, JR; Brockington, A; Milano, A; Man, S; Martindale, J; (2012) Clinico-pathological features in amyotrophic lateral sclerosis with expansions in C9ORF72. Brain , 135 (3) 751 - 764. 10.1093/brain/awr365. Green open access
file

Coppola, G; Chinnathambi, S; Lee, JJ; Dombroski, BA; Baker, MC; Soto-Ortolaza, AI; Lee, SE; (2012) Evidence for a role of the rare p.A152T variant in MAPT in increasing the risk for FTD-spectrum and Alzheimer's diseases. Hum Mol Genet , 21 (15) 3500 - 3512. 10.1093/hmg/dds161.

Corneveaux, JJ; Allen, AN; Pruzin, JJ; Chewning, K; Villa, SE; Meechoovet, HB; Gerber, JD; (2010) Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. Human Molecular Genetics , 19 (16) 3295 - 3301. 10.1093/hmg/ddq221.

Corneveaux, JJ; Myers, AJ; Allen, AN; Pruzin, JJ; Ramirez, M; Engel, A; Nalls, MA; (2010) Association of CR1, CLU and PICALM with Alzheimer's disease in a cohort of clinically characterized and neuropathologically verified individuals. HUM MOL GENET , 19 (16) 3295 - 3301. 10.1093/hmg/ddq221.

Cortese, A; Tucci, A; Piccolo, G; Galimberti, CA; Fratta, P; Marchioni, E; Grampa, G; (2014) Novel CLN3 mutation causing autophagic vacuolar myopathy. Neurology , 82 (23) 2072 - 2076. 10.1212/WNL.0000000000000490.

Cowburn, R; Hardy, J; Roberts, P; Briggs, R; (1988) Regional distribution of pre- and postsynaptic glutamatergic function in Alzheimer's disease. Brain Res , 452 (1-2) 403 - 407.

Cowburn, R; Hardy, J; Roberts, P; Briggs, R; (1988) Presynaptic and postsynaptic glutamatergic function in Alzheimer's disease. Neurosci Lett , 86 (1) 109 - 113.

Cowburn, RF; Dodd, PR; Hardy, JA; Johnston, GA; (1987) A comparison of high affinity synaptosomal uptake of d-aspartate in rat and human brain. Neurochem Int , 10 (3) 339 - 346.

Cowburn, RF; Hardy, JA; Briggs, RS; Roberts, PJ; (1989) Characterisation, density, and distribution of kainate receptors in normal and Alzheimer's diseased human brain. J Neurochem , 52 (1) 140 - 147.

Cowburn, RF; Hardy, JA; Roberts, PJ; (1988) Characterisation of Na+-independent L-[3H]glutamate binding sites in human temporal cortex. J Neurochem , 50 (6) 1872 - 1878.

Crawford, F; Hardy, J; Mullan, M; Goate, A; Hughes, D; Fidani, L; Roques, P; (1991) Sequencing of exons 16 and 17 of the beta-amyloid precursor protein gene in 14 families with early onset Alzheimer's disease fails to reveal mutations in the beta-amyloid sequence. Neurosci Lett , 133 (1) 1 - 2.

Crehan, H; Hardy, J; Pocock, J; (2013) Blockage of CR1 prevents activation of rodent microglia. Neurobiol Dis , 54 139 - 149. 10.1016/j.nbd.2013.02.003.

Crehan, H; Hardy, J; Pocock, J; (2012) Microglia, Alzheimer's disease, and complement. Int J Alzheimers Dis , 2012 983640 - ?. 10.1155/2012/983640. Gold open access

Crehan, H; Holton, P; Wray, S; Pocock, J; Guerreiro, R; Hardy, J; (2012) Complement receptor 1 (CR1) and Alzheimer's disease. Immunobiology , 217 (2) 244 - 250. 10.1016/j.imbio.2011.07.017.

Crook, R; Ellis, R; Shanks, M; Thal, LJ; Perez-Tur, J; Baker, M; Hutton, M; (1997) Early-onset Alzheimer's disease with a presenilin-1 mutation at the site corresponding to the Volga German presenilin-2 mutation. Ann Neurol , 42 (1) 124 - 128. 10.1002/ana.410420121.

Crook, R; Hardy, J; Duff, K; (1994) Single-day apolipoprotein E genotyping. J Neurosci Methods , 53 (2) 125 - 127.

Crook, R; Verkkoniemi, A; Perez-Tur, J; Mehta, N; Baker, M; Houlden, H; Farrer, M; (1998) A variant of Alzheimer's disease with spastic paraparesis and unusual plaques due to deletion of exon 9 of presenilin 1. NAT MED , 4 (4) 452 - 455.

Cruchaga, C; Karch, CM; Jin, SC; Benitez, BA; Cai, Y; Guerreiro, R; Harari, O; (2014) Rare coding variants in the phospholipase D3 gene confer risk for Alzheimer's disease. Nature , 505 (7484) 550 - 554. 10.1038/nature12825.

Cruts, M; van Duijn, CM; Backhovens, H; Van den Broeck, M; Wehnert, A; Serneels, S; Sherrington, R; (1998) Estimation of the genetic contribution of presenilin-1 and -2 mutations in a population-based study of presenile Alzheimer disease. Hum Mol Genet , 7 (1) 43 - 51.

Davies, DC; Hardy, JA; (1988) Blood brain barrier in ageing and Alzheimer's disease. Neurobiol Aging , 9 (1) 46 - 48.

De Ferrari, GV; Papassotiropoulos, A; Biechele, T; Wavrant De-Vrieze, F; Avila, ME; Major, MB; Myers, A; (2007) Common genetic variation within the low-density lipoprotein receptor-related protein 6 and late-onset Alzheimer's disease. Proc Natl Acad Sci U S A , 104 (22) 9434 - 9439. 10.1073/pnas.0603523104.

De Jonghe, C; Cruts, M; Rogaeva, EA; Tysoe, C; Singleton, A; Vanderstichele, H; Meschino, W; (1999) Aberrant splicing in the presenilin-1 intron 4 mutation causes presenile Alzheimer's disease by increased Abeta42 secretion. Hum Mol Genet , 8 (8) 1529 - 1540.

Desikan, RS; Schork, AJ; Wang, Y; Thompson, WK; Dehghan, A; Ridker, PM; Chasman, DI; (2015) Polygenic Overlap Between C-Reactive Protein, Plasma Lipids and Alzheimer's Disease. Circulation 10.1161/CIRCULATIONAHA.115.015489.

Desikan, RS; Schork, AJ; Wang, Y; Witoelar, A; Sharma, M; McEvoy, LK; Holland, D; (2015) Genetic overlap between Alzheimer's disease and Parkinson's disease at the MAPT locus. Mol Psychiatry 10.1038/mp.2015.6.

Devine, MJ; Gwinn, K; Singleton, A; Hardy, J; (2011) Parkinson's Disease and alpha-Synuclein Expression. MOVEMENT DISORD , 26 (12) 2160 - 2168. 10.1002/mds.23948.

Devine, MJ; Kaganovich, A; Ryten, M; Mamais, A; Trabzuni, D; Manzoni, C; McGoldrick, P; (2011) Pathogenic LRRK2 Mutations Do Not Alter Gene Expression in Cell Model Systems or Human Brain Tissue. PLOS ONE , 6 (7) , Article e22489. 10.1371/journal.pone.0022489. Green open access
file

Devine, MJ; Ryten, M; Vodicka, P; Thomson, AJ; Burdon, T; Houlden, H; Cavaleri, F; (2011) Parkinson's disease induced pluripotent stem cells with triplication of the alpha-synuclein locus. NAT COMMUN , 2 , Article 440. 10.1038/ncomms1453. Gold open access

Dickson, D; Farrer, M; Lincoln, S; Mason, RP; Zimmerman, TR; Golbe, LI; Hardy, J; (2001) Pathology of PD in monozygotic twins with a 20-year discordance interval. Neurology , 56 (7) 981 - 982.

Dickson, DW; Braak, H; Duda, JE; Duyckaerts, C; Gasser, T; Halliday, GM; Hardy, J; (2009) Neuropathological assessment of Parkinson's disease: refining the diagnostic criteria. LANCET NEUROL , 8 (12) 1150 - 1157.

Dickson, DW; Liu, W; Hardy, J; Farrer, M; Mehta, N; Uitti, R; Mark, M; (1999) Widespread alterations of alpha-synuclein in multiple system atrophy. Am J Pathol , 155 (4) 1241 - 1251.

Do, R; Stitziel, NO; Won, HH; Jørgensen, AB; Duga, S; Angelica Merlini, P; Kiezun, A; (2015) Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction. Nature , 518 (7537) 102 - 106. 10.1038/nature13917.

Dobricic, V; Stefanova, E; Jankovic, M; Gurunlian, N; Novakovic, I; Hardy, J; Kostic, V; (2012) Genetic testing in familial and young-onset Alzheimer's disease: mutation spectrum in a Serbian cohort. Neurobiol Aging , 33 (7) 1481.e7 - 1481.12. 10.1016/j.neurobiolaging.2011.12.007.

Dodd, P; Hardy, JA; Oakley, AE; Strong, AJ; (1981) Synaptosomes prepared from fresh human cerebral cortex; morphology, respiration and release of transmitter amino acids. Brain Res , 224 (2) 419 - 425.

Dodd, PR; Hambley, JW; Cowburn, RF; Hardy, JA; (1988) A comparison of methodologies for the study of functional transmitter neurochemistry in human brain. J Neurochem , 50 (5) 1333 - 1345.

Dodd, PR; Hardy, JA; Baig, EB; Kidd, AM; Bird, ED; Watson, WE; Johnston, GA; (1986) Optimization of freezing, storage, and thawing conditions for the preparation of metabolically active synaptosomes from frozen rat and human brain. Neurochem Pathol , 4 (3) 177 - 198.

Dodd, PR; Hardy, JA; Bradford, HF; Bennett, GW; Edwardson, JA; Harding, BN; (1979) Metabolic and secretory processes in nerve-endings isolated from post-mortem brain. Neurosci Lett , 11 (1) 87 - 92.

Dodd, PR; Hardy, JA; Oakley, AE; Edwardson, JA; Perry, EK; Delaunoy, JP; (1981) A rapid method for preparing synaptosomes: comparison, with alternative procedures. Brain Res , 226 (1-2) 107 - 118.

Dodd, PR; Watson, WE; Morrison, MM; Johnston, GA; Bird, ED; Cowburn, RF; Hardy, JA; (1989) Uptake of gamma-aminobutyric acid and L-glutamic acid by synaptosomes from postmortem human cerebral cortex: multiple sites, sodium dependence and effect of tissue preparation. Brain Res , 490 (2) 320 - 331.

Dogu, O; Johnson, J; Hernandez, D; Hanson, M; Hardy, J; Apaydin, H; Ozekmekçi, S; (2004) A consanguineous Turkish family with early-onset Parkinson's disease and an exon 4 parkin deletion. Mov Disord , 19 (7) 812 - 816. 10.1002/mds.20028.

Doherty, KM; Hardy, J; (2013) Parkin disease and the Lewy body conundrum. Movement Disorders , 28 (6) pp. 702-704. 10.1002/mds.25486. Green open access
file

Doherty, KM; Moriyama, LS; Parkkinen, L; Healy, DG; Farrell, M; Mencacci, NE; Ahmed, Z; (2013) Parkin disease-a clinicopathological entity? J Neurol Neurosurg Psychiatry , 84 (11) e2 - ?. 10.1136/jnnp-2013-306573.13.

Doherty, KM; Silveira-Moriyama, L; Hardy, J; Revesz, T; Lees, AJ; Holton, JL; Ahmed, Z; (2013) Parkin disease: A clinicopathologic entity? JAMA Neurology , 70 (5) 571 - 579. 10.1001/jamaneurol.2013.172.

Doherty, KM; Silveira-Moriyama, L; Parkkinen, L; Healy, DG; Farrell, M; Mencacci, NE; Ahmed, Z; (2013) Parkin disease: a clinicopathologic entity? JAMA Neurol , 70 (5) 571 - 579. 10.1001/jamaneurol.2013.172.

Dong, J; Gao, J; Nalls, M; Gao, X; Huang, X; Han, J; Singleton, AB; (2014) Susceptibility loci for pigmentation and melanoma in relation to Parkinson's disease. Neurobiol Aging , 35 (6) 1512.e5 - 1512.10. 10.1016/j.neurobiolaging.2013.12.020.

Duff, K; Eckman, C; Zehr, C; Yu, X; Prada, CM; Perez-tur, J; Hutton, M; (1996) Increased amyloid-beta42(43) in brains of mice expressing mutant presenilin 1. Nature , 383 (6602) 710 - 713. 10.1038/383710a0.

Duff, K; Hardy, J; (1995) Alzheimer's disease. Mouse model made. Nature , 373 (6514) 476 - 477. 10.1038/373476a0.

Duff, K; McGuigan, A; Huxley, C; Schulz, F; Hardy, J; (1994) Insertion of a pathogenic mutation into a yeast artificial chromosome containing the human amyloid precursor protein gene. Gene Ther , 1 (1) 70 - 75.

Duncan, AJ; Bitner-Glindzicz, M; Meunier, B; Costello, H; Hargreaves, IP; Lopez, LC; Hirano, M; (2009) A Nonsense Mutation in COQ9 Causes Autosomal-Recessive Neonatal-Onset Primary Coenzyme Q(10) Deficiency: A Potentially Treatable Form of Mitochondrial Disease. AM J HUM GENET , 84 (5) 558 - 566. 10.1016/j.ajhg.2009.03.018. Gold open access

Duran, R; Hardy, J; McNeill, A; Schapira, AHV; Mehta, A; Hughes, D; Cox, T; (2012) Novel pathogenic mutations in the glucocerebrosidase locus. Molecular Genetics and Metabolism , 106 (4) 495 - 497. 10.1016/j.ymgme.2012.05.006.

Duran, R; McNeill, A; Mehta, A; Hughes, D; Cox, T; Deegan, P; Schapira, AH; (2012) Novel pathogenic mutations in the glucocerebrosidase locus. Mol Genet Metab , 106 (4) 495 - 497. 10.1016/j.ymgme.2012.05.006. Gold open access

Duran, R; Mencacci, NE; Angeli, AV; Shoai, M; Deas, E; Houlden, H; Mehta, A; (2013) The glucocerobrosidase E326K variant predisposes to Parkinson's disease, but does not cause Gaucher's disease. Movement Disorders , 28 (2) 232 - 236. 10.1002/mds.25248. Green open access
file

Eckman, CB; Mehta, ND; Crook, R; Perez-tur, J; Prihar, G; Pfeiffer, E; Graff-Radford, N; (1997) A new pathogenic mutation in the APP gene (I716V) increases the relative proportion of A beta 42(43). Hum Mol Genet , 6 (12) 2087 - 2089.

Edwards-Lee, T; Ringman, JM; Chung, J; Werner, J; Morgan, A; St George Hyslop, P; Thompson, P; (2005) An African American family with early-onset Alzheimer disease and an APP (T714I) mutation. Neurology , 64 (2) 377 - 379. 10.1212/01.WNL.0000149761.70566.3E.

Edwards-Lee, T; Wen, J; Bell, J; Hardy, J; Chung, J; Momeni, P; (2006) A presenilin-1 mutation (T245P) in transmembrane domain 6 causes early onset Alzheimer's disease. Neurosci Lett , 398 (3) 251 - 252. 10.1016/j.neulet.2006.01.006.

Eerola, J; Hernandez, D; Launes, J; Hellström, O; Hague, S; Gulick, C; Johnson, J; (2003) Assessment of a DJ-1 (PARK7) polymorphism in Finnish PD. Neurology , 61 (7) 1000 - 1002.

El-Agnaf, OM; Salem, SA; Paleologou, KE; Cooper, LJ; Fullwood, NJ; Gibson, MJ; Curran, MD; (2003) Alpha-synuclein implicated in Parkinson's disease is present in extracellular biological fluids, including human plasma. FASEB J , 17 (13) 1945 - 1947. 10.1096/fj.03-0098fje.

Englund, E; Gustafson, L; Passant, U; Majounie, E; Renton, AE; Traynor, BJ; Rohrer, JD; (2012) Familial Lund frontotemporal dementia caused by C9ORF72 hexanucleotide expansion. Neurobiol Aging , 33 (8) 1850.e13 - 1850.e16. 10.1016/j.neurobiolaging.2012.02.019.

Erro, R; Bhatia, KP; Hardy, J; (2014) GNAL mutations and dystonia. JAMA Neurol , 71 (8) 1052 - 1053. 10.1001/jamaneurol.2014.1506.

Erro, R; Hersheson, J; Ganos, C; Mencacci, NE; Stamelou, M; Batla, A; Thust, SC; (2014) H-ABC syndrome and DYT4: Variable expressivity or pleiotropy of TUBB4 mutations? Mov Disord 10.1002/mds.26129.

Escott-Price, V; Bellenguez, C; Wang, LS; Choi, SH; Harold, D; Jones, L; Holmans, P; (2014) Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. PLoS One , 9 (6) , Article e94661. 10.1371/journal.pone.0094661. Green open access
file

Escott-Price, V; International Parkinson's Disease Genomics Consortium, ; Nalls, MA; Morris, HR; Lubbe, S; Brice, A; Gasser, T; (2015) Polygenic risk of Parkinson disease is correlated with disease age at onset. Ann Neurol , 77 (4) 582 - 591. 10.1002/ana.24335.

Evans, W; Fung, HC; Steele, J; Eerola, J; Tienari, P; Pittman, A; de Silva, R; (2004) The tau H2 haplotype is almost exclusively Caucasian in origin. NEUROSCI LETT , 369 (3) 183 - 185. 10.1016/j.neulet.2004.05.119.

Evidente, VG; Advincula, J; Esteban, R; Pasco, P; Alfon, JA; Natividad, FF; Cuanang, J; (2002) Phenomenology of "Lubag" or X-linked dystonia-parkinsonism. Mov Disord , 17 (6) 1271 - 1277. 10.1002/mds.10271.

Evidente, VG; Esteban, RP; Hernandez, JL; Natividad, FF; Advincula, J; Gwinn-Hardy, K; Hardy, J; (2004) Smell testing is abnormal in 'lubag' or X-linked dystonia-parkinsonism: a pilot study. Parkinsonism Relat Disord , 10 (7) 407 - 410. 10.1016/j.parkreldis.2004.04.011.

Evidente, VG; Gwinn-Hardy, K; Hardy, J; Hernandez, D; Singleton, A; (2002) X-linked dystonia ("Lubag") presenting predominantly with parkinsonism: a more benign phenotype? Mov Disord , 17 (1) 200 - 202.

FOLEY, P; BRADFORD, H; DOCHERTY, M; FILLIT, H; LUINE, V; MCEWEN, B; BUCHT, G; (1987) EVIDENCE FOR THE PRESENCE OF ANTIBODIES TO CHOLINERGIC NEURONS IN THE SERUM OF PATIENTS WITH ALZHEIMERS-DISEASE. BIOCHEMICAL SOCIETY TRANSACTIONS , 15 (6) 1034 - 1036.

Farrer, M; Chan, P; Chen, R; Tan, L; Lincoln, S; Hernandez, D; Forno, L; (2001) Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol , 50 (3) 293 - 300.

Farrer, M; Destée, A; Levecque, C; Singleton, A; Engelender, S; Becquet, E; Mouroux, V; (2001) Genetic analysis of synphilin-1 in familial Parkinson's disease. Neurobiol Dis , 8 (2) 317 - 323. 10.1006/nbdi.2000.0326.

Farrer, M; Destée, T; Becquet, E; Wavrant-De Vrièze, F; Mouroux, V; Richard, F; Defebvre, L; (2000) Linkage exclusion in French families with probable Parkinson' s disease. Mov Disord , 15 (6) 1075 - 1083.

Farrer, M; Gwinn-Hardy, K; Hutton, M; Hardy, J; (1999) The genetics of disorders with synuclein pathology and parkinsonism. Hum Mol Genet , 8 (10) 1901 - 1905.

Farrer, M; Gwinn-Hardy, K; Muenter, M; DeVrieze, FW; Crook, R; Perez-Tur, J; Lincoln, S; (1999) A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet , 8 (1) 81 - 85.

Farrer, M; Maraganore, DM; Lockhart, P; Singleton, A; Lesnick, TG; de Andrade, M; West, A; (2001) alpha-synuclein gene haplotypes are associated with Parkinson's disease. HUM MOL GENET , 10 (17) 1847 - 1851.

Farrer, M; Skipper, L; Berg, M; Bisceglio, G; Hanson, M; Hardy, J; Adam, A; (2002) The tau H1 haplotype is associated with Parkinson's disease in the Norwegian population. Neurosci Lett , 322 (2) 83 - 86.

Farrer, M; Wavrant-De Vrieze, F; Crook, R; Boles, L; Perez-Tur, J; Hardy, J; Johnson, WG; (1998) Low frequency of alpha-synuclein mutations in familial Parkinson's disease. Ann Neurol , 43 (3) 394 - 397. 10.1002/ana.410430320.

Ferrari, R; Hardy, J; Momeni, P; (2011) Frontotemporal dementia: from Mendelian genetics towards genome wide association studies. J Mol Neurosci , 45 (3) 500 - 515. 10.1007/s12031-011-9635-y.

Ferrari, R; Hernandez, DG; Nalls, MA; Rohrer, JD; Ramasamy, A; Kwok, JB; Dobson-Stone, C; (2014) Frontotemporal dementia and its subtypes: a genome-wide association study. Lancet Neurol , 13 (7) 686 - 699. 10.1016/S1474-4422(14)70065-1.

Ferrari, R; Kapogiannis, D; Huey, ED; Grafman, J; Hardy, J; Momeni, P; (2010) Novel Missense Mutation in Charged Multivesicular Body Protein 2B in a Patient With Frontotemporal Dementia. ALZ DIS ASSOC DIS , 24 (4) 397 - 401. 10.1097/WAD.0b013e3181df20c7.

Ferrari, R; Kero, M; Mok, K; Paetau, A; Tienari, PJ; Tynninen, O; Hardy, J; (2014) Familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. Neurobiol Aging , 35 (2) 444.e11 - 444.e14. 10.1016/j.neurobiolaging.2013.08.021.

Ferrari, R; Mok, K; Moreno, JH; Cosentino, S; Goldman, J; Pietrini, P; Mayeux, R; (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiol Aging , 33 (8) 1850.e1 - 1850.11. 10.1016/j.neurobiolaging.2012.02.017.

Ferrari, R; Momeni, P; Mok, K; Hardy, J; Kero, M; Paetau, A; Tynninen, O; (2014) A familial frontotemporal dementia associated with C9orf72 repeat expansion and dysplastic gangliocytoma. Neurobiology of Aging , 35 (2) 10.1016/j.neurobiolaging.2013.08.021.

Ferrari, R; Momeni, P; Simone, R; Nicolaou, N; Hondhamuni, G; Vandrovcova, J; Lees, AJ; (2014) Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiology of Aging , 35 (6) 10.1016/j.neurobiolaging.2014.01.010.

Ferrari, R; Momeni, P; Simone, R; Nicolaou, N; Hondhamuni, G; Vandrovcova, J; Lees, AJ; (2014) Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiology of Aging , 35 (6) 10.1016/j.neurobiolaging.2014.01.010.

Ferrari, R; Moreno, JH; Momeni, P; Mok, K; Hardy, J; Cosentino, S; Goldman, J; (2012) Screening for C9ORF72 repeat expansion in FTLD. Neurobiology of Aging , 33 (8) 10.1016/j.neurobiolaging.2012.02.017.

Ferrari, R; Ryten, M; Simone, R; Trabzuni, D; Nicolaou, N; Hondhamuni, G; Ramasamy, A; (2014) Assessment of common variability and expression quantitative trait loci for genome-wide associations for progressive supranuclear palsy. Neurobiol Aging , 35 (6) 1514.e1 - 1514.12. 10.1016/j.neurobiolaging.2014.01.010.

Fidani, L; Clarimon, J; Goulas, A; Hatzitolios, AI; Evans, W; Tsirogianni, E; Hardy, J; (2007) Association of phosphodiesterase 4D gene G0 haplotype and ischaemic stroke in a Greek population. Eur J Neurol , 14 (7) 745 - 749. 10.1111/j.1468-1331.2007.01767.x.

Fidani, L; Compton, D; Hardy, J; Petersen, RC; Tangalos, E; Mirtsou, V; Goulas, A; (2002) No association between the lipoprotein lipase S447X polymorphism and Alzheimer's disease. NEUROSCI LETT , 322 (3) 192 - 194.

Fidani, L; Goulas, A; Crook, R; Petersen, RC; Tangalos, E; Kotsis, A; Hardy, J; (2004) An association study of the cholesteryl ester transfer protein TaqI B polymorphism with late onset Alzheimer's disease. Neurosci Lett , 357 (2) 152 - 154. 10.1016/j.neulet.2003.11.071.

Fidani, L; Goulas, A; Mirtsou, V; Petersen, RC; Tangalos, E; Crook, R; Hardy, J; (2002) Interleukin-1A polymorphism is not associated with late onset Alzheimer's disease. Neurosci Lett , 323 (1) 81 - 83.

Fidani, L; Kalinderi, K; Bostantjopoulou, S; Clarimon, J; Goulas, A; Katsarou, Z; Hardy, J; (2006) Association of the Tau haplotype with Parkinson's disease in the Greek population. Mov Disord , 21 (7) 1036 - 1039. 10.1002/mds.20864.

Foley, P; Bradford, HF; Docherty, M; Fillit, H; Luine, VN; McEwen, B; Bucht, G; (1988) Evidence for the presence of antibodies to cholinergic neurons in the serum of patients with Alzheimer's disease. J Neurol , 235 (8) 466 - 471.

Forabosco, P; Ramasamy, A; Trabzuni, D; Bras, J; Hardy, J; Guerreiro, R; Ryten, M; (2013) Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiology of Aging , 34 (12) 2699 - 2714. 10.1016/j.neurobiolaging.2013.05.001.

Forabosco, P; Ramasamy, A; Trabzuni, D; Walker, R; Smith, C; Bras, J; Levine, AP; (2013) Insights into TREM2 biology by network analysis of human brain gene expression data. Neurobiol Aging , 34 (12) pp. 2699-2714. 10.1016/j.neurobiolaging.2013.05.001. Green open access
file

Fox, NC; Kennedy, AM; Harvey, RJ; Lantos, PL; Roques, PK; Collinge, J; Hardy, J; (1997) Clinicopathological features of familial Alzheimer's disease associated with the M139V mutation in the presenilin 1 gene - Pedigree but not mutation specific age at onset provides evidence for a further genetic factor. BRAIN , 120 491 - 501.

Frank, RA; Galasko, D; Hampel, H; Hardy, J; de Leon, MJ; Mehta, PD; Rogers, J; (2003) Biological markers for therapeutic trials in Alzheimer's disease. Proceedings of the biological markers working group; NIA initiative on neuroimaging in Alzheimer's disease. Neurobiol Aging , 24 (4) 521 - 536.

Fratta, P; Charnock, J; Collins, T; Devoy, A; Howard, R; Malaspina, A; Orrell, R; (2013) Profilin1 E117G is a moderate risk factor for amyotrophic lateral sclerosis. J Neurol Neurosurg Psychiatry , 85 pp. 506-508. 10.1136/jnnp-2013-306761. Green open access
file

Friedland, RP; Shah, JJ; Rebolledo-Mendez, JD; Farrer, LA; Vardarajan, B; Mok, K; Hardy, J; (2012) Behavioral variant frontotemporal lobar degeneration with amyotrophic lateral sclerosis with a chromosome 9p21 hexanucleotide repeat. Frontiers in Neurology , OCT 10.3389/fneur.2012.00136. Gold open access

Froelich, S; Houlden, H; Rizzu, P; Chakraverty, S; Baker, M; Kwon, J; Nowotny, P; (1999) Construction of a detailed physical and transcript map of the FTDP-17 candidate region on chromosome 17q21. GENOMICS , 60 (2) 129 - 136.

Fung, HC; Chen, CM; Hardy, J; Hernandez, D; Singleton, A; Wu, YR; (2006) Lack of G2019S LRRK2 mutation in a cohort of Taiwanese with sporadic Parkinson's disease. MOVEMENT DISORD , 21 (6) 880 - 881. 10.1002/mds.20814.

Fung, HC; Chen, CM; Hardy, J; Singleton, AB; Lee-Chen, GJ; Wu, YR; (2006) Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. NEUROSCI LETT , 394 (1) 33 - 36. 10.1016/j.neulet.2005.10.005.

Fung, HC; Chen, CM; Hardy, J; Singleton, AB; Wu, YR; (2006) A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan. BMC Neurology , 6 , Article 47. 10.1186/1471-2377-6-47. Green open access
file

Fung, HC; Evans, J; Evans, W; Duckworth, J; Pittman, A; de Silva, R; Myers, A; (2005) The architecture of the tau haplotype block in different ethnicities. NEUROSCI LETT , 377 (2) 81 - 84. 10.1016/j.neulet.2004.11.072.

Fung, HC; Scholz, S; Matarin, M; Simon-Sanchez, J; Hernandez, D; Britton, A; Gibbs, JR; (2006) Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. LANCET NEUROL , 5 (11) 911 - 916. 10.1016/S1474-4422(06)70578-6.

Fung, HC; Xiromerisiou, G; Gibbs, JR; Wu, YR; Eerola, J; Gourbali, V; Hellstrom, O; (2006) Association of tau haplotype-tagging polymorphisms with Parkinson's disease in diverse ethnic Parkinson's disease cohorts. NEURODEGENER DIS , 3 (6) 327 - 333. 10.1159/000097301.

Furtado, S; Payami, H; Lockhart, PJ; Hanson, M; Nutt, JG; Singleton, AA; Singleton, A; (2004) Profile of families with parkinsonism-predominant spinocerebellar ataxia type 2 (SCA2). Mov Disord , 19 (6) 622 - 629. 10.1002/mds.20074.

GOATE, AM; HAYNES, AR; OWEN, MJ; FARRALL, M; JAMES, LA; LAI, LYC; MULLAN, MJ; (1989) PREDISPOSING LOCUS FOR ALZHEIMERS-DISEASE ON CHROMOSOME-21. LANCET , 1 (8634) 352 - 355.

Garcia, ML; Singleton, AB; Hernandez, D; Ward, CM; Evey, C; Sapp, PA; Hardy, J; (2006) Mutations in neurofilament genes are not a significant primary cause of non-SOD1-mediated amyotrophic lateral sclerosis. Neurobiol Dis , 21 (1) 102 - 109. 10.1016/j.nbd.2005.06.016.

Gasser, T; Hardy, J; Mizuno, Y; (2011) Milestones in PD Genetics. MOVEMENT DISORD , 26 (6) 1042 - 1048. 10.1002/mds.23637.

Gegg, ME; Burke, D; Heales, SJ; Cooper, JM; Hardy, J; Wood, NW; Schapira, AH; (2012) Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol , 72 (3) 455 - 463. 10.1002/ana.23614.

Gerrish, A; Russo, G; Richards, A; Moskvina, V; Ivanov, D; Harold, D; Sims, R; (2012) The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. Journal of Alzheimer's Disease , 28 (2) 377 - 387. 10.3233/JAD-2011-110824.

Gerrish, A; Russo, G; Richards, A; Moskvina, V; Ivanov, D; Harold, D; Sims, R; (2012) The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease. J Alzheimers Dis , 28 (2) 377 - 387. 10.3233/JAD-2011-110824.

Goate, A; Chartier-Harlin, MC; Mullan, M; Brown, J; Crawford, F; Fidani, L; Giuffra, L; (1991) Segregation of a missense mutation in the amyloid precursor protein gene with familial Alzheimer's disease. Nature , 349 (6311) 704 - 706. 10.1038/349704a0.

Goate, A; Hardy, J; (2012) Twenty years of Alzheimer's disease-causing mutations. J Neurochem , 120 Suppl 1 3 - 8. 10.1111/j.1471-4159.2011.07575.x.

Goldstein, DS; Imrich, R; Peckham, E; Holmes, C; Lopez, G; Crews, C; Hardy, J; (2007) Neurocirculatory and nigrostriatal abnormalities in Parkinson disease from LRRK2 mutation. Neurology , 69 (16) 1580 - 1584. 10.1212/01.wnl.0000268696.57912.64.

Goudreau, JL; Maraganore, DM; Farrer, MJ; Lesnick, TG; Singleton, AB; Bower, JH; Hardy, JA; (2002) Case-control study of dopamine transporter-1, monoamine oxidase-B, and catechol-O-methyl transferase polymorphisms in Parkinson's disease. Mov Disord , 17 (6) 1305 - 1311. 10.1002/mds.10268.

Goulas, A; Fidani, L; Kotsis, A; Mirtsou, V; Petersen, RC; Tangalos, E; Hardy, J; (2002) An association study of a functional catalase gene polymorphism,-262C -> T, and patients with Alzheimer's disease. NEUROSCI LETT , 330 (2) 210 - 212.

Grupe, A; Li, Y; Rowland, C; Nowotny, P; Hinrichs, AL; Smemo, S; Kauwe, JS; (2006) A scan of chromosome 10 identifies a novel locus showing strong association with late-onset Alzheimer disease. Am J Hum Genet , 78 (1) 78 - 88. 10.1086/498851.

Grünberg, J; Walter, J; Eckman, C; Capell, A; Schindzielorz, A; Younkin, S; Mehta, N; (1998) Truncated presenilin 2 derived from differentially spliced mRNA does not affect the ratio of amyloid beta-peptide 1-42/1-40. Neuroreport , 9 (14) 3293 - 3299.

Guerreiro, R; Bras, J; Toombs, J; Heslegrave, A; Hardy, J; Zetterberg, H; (2015) Genetic Variants and Related Biomarkers in Sporadic Alzheimer's Disease. Curr Genet Med Rep , 3 19 - 25. 10.1007/s40142-014-0062-6. Green open access
file

Guerreiro, R; Brás, J; Hardy, J; (2015) SnapShot: Genetics of ALS and FTD. Cell , 160 (4) 798.e1 - 798.e1. 10.1016/j.cell.2015.01.052.

Guerreiro, R; Brás, J; Hardy, J; (2015) SnapShot: Genetics of ALS and FTD. Cell , 160 (4) 798.e1 - ?. 10.1016/j.cell.2015.01.052.

Guerreiro, R; Brás, J; Hardy, J; (2013) SnapShot: genetics of Alzheimer's disease. Cell , 155 (4) 968 - 968.e1. 10.1016/j.cell.2013.10.037.

Guerreiro, R; Brás, J; Hardy, J; Singleton, A; (2014) Next generation sequencing techniques in neurological diseases: redefining clinical and molecular associations. Hum Mol Genet , 23 (R1) R47-R53. 10.1093/hmg/ddu203. Green open access
file

Guerreiro, R; Brás, J; Hardy, J; Wojtas, A; Rademakers, R; Graff-Radford, N; (2014) A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiology of Aging , 35 (11) 2656.e13 - e16. 10.1016/j.neurobiolaging.2014.05.013.

Guerreiro, R; Brás, J; Wojtas, A; Rademakers, R; Hardy, J; Graff-Radford, N; (2014) A nonsense mutation in PRNP associated with clinical Alzheimer's disease. Neurobiol Aging 10.1016/j.neurobiolaging.2014.05.013.

Guerreiro, R; Hardy, J; (2014) Genetics of Alzheimer's Disease. NEUROTHERAPEUTICS , 11 (4) 732 - 737. 10.1007/s13311-014-0295-9. Green open access
file

Guerreiro, R; Hardy, J; (2014) Genetics of Alzheimer's Disease. Neurotherapeutics , 11 (4) pp. 732-737. 10.1007/s13311-014-0295-9. Green open access
file

Guerreiro, R; Hardy, J; (2013) TREM2 and neurodegenerative disease. N Engl J Med , 369 (16) 1569 - 1570.

Guerreiro, R; Hardy, J; (2013) Drs. Kuerreiro and Hardy reply. New England Journal of Medicine , 369 (16) 1569 - 1570. 10.1056/NEJMc1306509.

Guerreiro, R; Kara, E; Le Ber, I; Bras, J; Rohrer, JD; Taipa, R; Lashley, T; (2013) Genetic analysis of inherited leukodystrophies: genotype-phenotype correlations in the CSF1R gene. JAMA Neurol , 70 (7) 875 - 882. 10.1001/jamaneurol.2013.698.

Guerreiro, R; Wojtas, A; Bras, J; Carrasquillo, M; Rogaeva, E; Majounie, E; Cruchaga, C; (2013) TREM2 variants in Alzheimer's disease. N Engl J Med , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, R; Wojtas, A; Bras, J; Carrasquillo, M; Rogaeva, E; Majounie, E; Cruchaga, C; (2013) TREM2 Variants in Alzheimer's Disease. NEW ENGLAND JOURNAL OF MEDICINE , 368 (2) 117 - 127. 10.1056/NEJMoa1211851.

Guerreiro, RJ; Baquero, M; Blesa, R; Boada, M; Bras, JM; Bullido, MJ; Calado, A; (2010) Genetic screening of Alzheimer's disease genes in Iberian and African samples yields novel mutations in presenilins and APP. NEUROBIOL AGING , 31 (5) 725 - 731. 10.1016/j.neurobiolaging.2008.06.012.

Guerreiro, RJ; Beck, J; Gibbs, JR; Santana, I; Rossor, MN; Schott, JM; Nalls, MA; (2010) Genetic Variability in CLU and Its Association with Alzheimer's Disease. PLOS ONE , 5 (3) , Article e9510. 10.1371/journal.pone.0009510. Green open access
file

Guerreiro, RJ; Bras, JM; Santana, I; Januario, C; Santiago, B; Morgadinho, AS; Ribeiro, MH; (2006) Association of HFE common mutations with Parkinson's disease, Alzheimer's disease and mild cognitive impairment in a Portuguese cohort. BMC Neurology , 6 , Article 24. 10.1186/1471-2377-6-24. Green open access
file

Guerreiro, RJ; Gustafson, DR; Hardy, J; (2012) The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. Neurobiology of Disease , 33 (3) 437 - 456. 10.1016/j.neurobiolaging.2010.03.025. Green open access
file

Guerreiro, RJ; Hardy, J; (2012) TOMM40 Association With Alzheimer Disease Tales of APOE and Linkage Disequilibrium. ARCHIVES OF NEUROLOGY , 69 (10) 1243 - 1244. 10.1001/archneurol.2012.1935.

Guerreiro, RJ; Hardy, J; (2011) Alzheimer's disease genetics: lessons to improve disease modelling. BIOCHEM SOC T , 39 910 - 916. 10.1042/BST0390910.

Guerreiro, RJ; Lohmann, E; Brás, JM; Gibbs, JR; Rohrer, JD; Gurunlian, N; Dursun, B; (2013) Using exome sequencing to reveal mutations in TREM2 presenting as a frontotemporal dementia-like syndrome without bone involvement. JAMA Neurol , 70 (1) 78 - 84. 10.1001/jamaneurol.2013.579.

Guerreiro, RJ; Santana, I; Bras, JM; Revesz, T; Rebelo, O; Ribeiro, MH; Santiago, B; (2008) Novel progranulin mutation: Screening for PGRN mutations in a Portuguese series of FTD/CBS cases. MOVEMENT DISORD , 23 (9) 1269 - 1273. 10.1002/mds.22078.

Guerreiro, RJ; Vaskov, T; Crews, C; Singleton, A; Hardy, J; (2009) A Case of Dementia With PRNP D178Ncis-129M and No Insomnia. ALZ DIS ASSOC DIS , 23 (4) 415 - 417.

Guerreiro, RJ; Washecka, N; Hardy, J; Singleton, A; (2010) A Thorough Assessment of Benign Genetic Variability in GRN and MAPT. HUM MUTAT , 31 (2) E1126 - E1140. 10.1002/humu.21152.

Gwinn, K; Corriveau, RA; Mitsumoto, H; Bednarz, K; Jr, BRH; Cudkowicz, M; Gordon, PH; (2007) Amyotrophic Lateral Sclerosis: An Emerging Era of Collaborative Gene Discovery. PLOS ONE , 2 (12) , Article e1254. 10.1371/journal.pone.0001254. Green open access
file

Gwinn, K; Devine, MJ; Jin, LW; Johnson, J; Bird, T; Muenter, M; Waters, C; (2011) Clinical Features, with Video Documentation, of the Original Familial Lewy Body Parkinsonism Caused By alpha-Synuclein Triplication (Iowa Kindred). MOVEMENT DISORD , 26 (11) 2134 - 2136. 10.1002/mds.23776.

Gwinn-Hardy, K; Chen, JY; Liu, HC; Liu, TY; Boss, M; Seltzer, W; Adam, A; (2000) Spinocerebellar ataxia type 2 with parkinsonism in ethnic Chinese. Neurology , 55 (6) 800 - 805.

Gwinn-Hardy, K; Evidente, VG; Waters, C; Muenter, MD; Hardy, J; (1999) L-dopa slows the progression of familial parkinsonism. Lancet , 353 (9167) 1850 - 1851. 10.1016/S0140-6736(99)01398-7.

Gwinn-Hardy, K; Mehta, ND; Farrer, M; Maraganore, D; Muenter, M; Yen, SH; Hardy, J; (2000) Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathol , 99 (6) 663 - 672.

Gwinn-Hardy, K; Singleton, A; O'Suilleabhain, P; Boss, M; Nicholl, D; Adam, A; Hussey, J; (2001) Spinocerebellar ataxia type 3 phenotypically resembling parkinson disease in a black family. Arch Neurol , 58 (2) 296 - 299.

Gwinn-Hardy, KA; Crook, R; Lincoln, S; Adler, CH; Caviness, JN; Hardy, J; Farrer, M; (2000) A kindred with Parkinson's disease not showing genetic linkage to established loci. Neurology , 54 (2) 504 - 507.

HALTIA, M; VIITANEN, M; SULKAVA, R; ALAHURULA, V; POYHONEN, M; GOLDFARB, L; BROWN, P; (1994) CHROMOSOME 14-ENCODED ALZHEIMERS-DISEASE - GENETIC AND CLINICOPATHOLOGICAL DESCRIPTION. ANN NEUROL , 36 (3) 362 - 367.

HARDY, J; (1991) MOLECULAR CLASSIFICATION OF ALZHEIMERS-DISEASE. LANCET , 337 (8753) 1342 - 1343.

HARDY, J; COWBURN, R; (1987) GLUTAMATE NEUROTOXICITY AND ALZHEIMERS-DISEASE. TRENDS IN NEUROSCIENCES , 10 (10) 406 - 406. 10.1016/0166-2236(87)90008-7.

HARDY, J; COWBURN, R; BARTON, A; REYNOLDS, G; LOFDAHL, E; OCARROLL, A; WESTER, P; (1987) GLUTAMATE DEFICITS IN ALZHEIMERS-DISEASE. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 50 (3) 356 - 357.

HARDY, J; HOULDEN, H; COLLINGE, J; KENNEDY, A; NEWMAN, S; ROSSOR, M; LANNFELT, L; (1993) APOLIPOPROTEIN-E GENOTYPE AND ALZHEIMERS-DISEASE. LANCET , 342 (8873) 737 - 738.

HARDY, JA; GOATE, AM; OWEN, MJ; MULLAN, MJ; ROSSOR, MN; PEARSON, RCA; (1989) MODELING THE OCCURRENCE AND PATHOLOGY OF ALZHEIMERS-DISEASE. NEUROBIOL AGING , 10 (5) 429 - 431.

HARDY, JA; OWEN, MJ; GOATE, AM; JAMES, LA; HAYNES, AR; ROSSOR, MN; ROQUES, P; (1989) MOLECULAR-GENETICS OF ALZHEIMERS-DISEASE. BIOCHEM SOC T , 17 (1) 75 - 76.

HOULDEN, H; CROOK, R; DUFF, K; COLLINGE, J; ROQUES, P; ROSSOR, M; HARDY, J; (1993) CONFIRMATION THAT THE APOLIPOPROTEIN E4 ALLELE IS ASSOCIATED WITH LATE-ONSET, FAMILIAL ALZHEIMERS-DISEASE. NEURODEGENERATION , 2 (4) 283 - 286.

HOULDEN, H; CROOK, R; DUFF, K; HUTTON, M; COLLINGE, J; ROQUES, P; ROSSOR, M; (1995) APOLIPOPROTEIN-E ALLELES BUT NEITHER APOLIPOPROTEIN-B NOR APOLIPOPROTEIN AI/CIII ALLELES ARE ASSOCIATED WITH LATE-ONSET, FAMILIAL ALZHEIMERS-DISEASE. NEUROSCI LETT , 188 (3) 202 - 204.

HOULDEN, H; CROOK, R; HARDY, J; ROQUES, P; COLLINGE, J; ROSSER, M; (1994) CONFIRMATION THAT FAMILIAL CLUSTERING AND AGE-OF-ONSET IN LATE-ONSET ALZHEIMERS-DISEASE ARE DETERMINED AT THE APOLIPOPROTEIN-E LOCUS. NEUROSCI LETT , 174 (2) 222 - 224.

Haack, TB; Cuno, SM; Strom, TM; Meitinger, T; Prokisch, H; Wieland, T; Schwarzmayr, T; (2012) Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. American Journal of Human Genetics , 91 (6) 1144 - 1149. 10.1016/j.ajhg.2012.10.019.

Haack, TB; Hogarth, P; Kruer, MC; Gregory, A; Wieland, T; Schwarzmayr, T; Graf, E; (2012) Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Am J Hum Genet , 91 (6) 1144 - 1149. 10.1016/j.ajhg.2012.10.019.

Haan, J; Hardy, JA; Roos, RA; (1991) Hereditary cerebral hemorrhage with amyloidosis--Dutch type: its importance for Alzheimer research. Trends Neurosci , 14 (6) 231 - 234.

Hague, S; Rogaeva, E; Hernandez, D; Gulick, C; Singleton, A; Hanson, M; Johnson, J; (2003) Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol , 54 (2) 271 - 274. 10.1002/ana.10663.

Hampel, H; Frank, R; Broich, K; Teipel, SJ; Katz, RG; Hardy, J; Herholz, K; (2010) Biomarkers for Alzheimer's disease: academic, industry and regulatory perspectives. NAT REV DRUG DISCOV , 9 (7) 560 - 574. 10.1038/nrd3115.

Hamshere, ML; Holmans, PA; Avramopoulos, D; Bassett, SS; Blacker, D; Bertram, L; Wiener, H; (2007) Genome-wide linkage analysis of 723 affected relative pairs with late-onset Alzheimer's disease. HUM MOL GENET , 16 (22) 2703 - 2712. 10.1093/hmg/ddm224.

Hanson, M; Honour, M; Singleton, A; Crawley, A; Singleton, A; Hardy, J; Gwinn-Hardy, K; (2004) Analysis of familial and sporadic restless legs syndrome in age of onset, gender, and severity features. J Neurol , 251 (11) 1398 - 1401. 10.1007/s00415-004-0552-7.

Hardy, J; (2013) The ignoble art. NEW SCIENTIST , 219 (2929) 26 - 27.

Hardy, J; (2013) Psychiatric genetics: are we there yet? JAMA Psychiatry , 70 (6) 569 - 570. 10.1001/jamapsychiatry.2013.216.

Hardy, J; (2013) Reply to Letter: Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Movement Disorders , 28 (4) 561 - 562. 10.1002/mds.25415.

Hardy, J; (2013) Reply to Letter: Identical twins with leucine rich repeat kinase type 2 mutations discordant for Parkinson's disease. Mov Disord , 28 (4) 561 - 562. 10.1002/mds.25415.

Hardy, J; (2012) CSF biomarking for diagnosis and treatment assessment in neurodegeneration. J Neurochem , 123 (3) 339 - 341. 10.1111/j.1471-4159.2012.07928.x.

Hardy, J; (2012) Genetic analysis of disease in the era of whole genome analysis and public databases. Neurobiol Aging , 33 (4) 635 - ?. 10.1016/j.neurobiolaging.2011.12.039.

Hardy, J; (2012) Alzheimer’s disease and related dementias. Neurogenetics: A Guide for Clinicians 17 - 31. 10.1017/CBO9781139087711.003.

Hardy, J; (2011) Read all about it! NEW SCI , 211 (2822) 22 - 23.

Hardy, J; (2010) Genetic Analysis of Pathways to Parkinson Disease. NEURON , 68 (2) 201 - 206. 10.1016/j.neuron.2010.10.014. Gold open access

Hardy, J; (2010) Sample Tracking and Use in Published Genome-wide Association Studies. ARCH NEUROL-CHICAGO , 67 (10) 1267 - 1268.

Hardy, J; (2010) Neurological Diagnoses Identify Molecular Processes. ARCH NEUROL-CHICAGO , 67 (4) 400 - 401.

Hardy, J; (2009) The amyloid hypothesis for Alzheimer's disease: a critical reappraisal. J NEUROCHEM , 110 (4) 1129 - 1134. 10.1111/j.1471-4159.2009.06181.x.

Hardy, J; (2008) Race, genetics, and medicine at a crossroads. LANCET S85 - S89.

Hardy, J; (2007) Does Abeta 42 have a function related to blood homeostasis? Neurochem Res , 32 (4-5) 833 - 835. 10.1007/s11064-006-9221-9.

Hardy, J; (2007) Putting presenilins centre stage. Introduction to the Talking Point on the role of presenilin mutations in Alzheimer disease. EMBO Rep , 8 (2) 134 - 135. 10.1038/sj.embor.7400899.

Hardy, J; (2006) A hundred years of Alzheimer's disease research. NEURON , 52 (1) 3 - 13. 10.1016/j.neuron.2006.09.016.

Hardy, J; (2006) No definitive evidence for a role for the environment in the etiology of Parkinson's disease. Mov Disord , 21 (10) 1790 - 1791. 10.1002/mds.21067.

Hardy, J; (2006) Bad luck: an unappreciated limitation in the interpretation of twin studies. Am J Med Genet B Neuropsychiatr Genet , 141B (6) 681 - ?. 10.1002/ajmg.b.30353.

Hardy, J; (2006) Amyloid double trouble. Nat Genet , 38 (1) 11 - 12. 10.1038/ng0106-11.

Hardy, J; (2004) Is amyloid plaque imaging the key to monitoring brain pathology of Alzheimer's disease in vivo? Eur J Nucl Med Mol Imaging , 31 (11) 1539 - 1540. 10.1007/s00259-004-1676-9.

Hardy, J; (2004) The uncertain anatomy of Alzheimer's disease. Neurobiol Aging , 25 (6) 719 - 720. 10.1016/j.neurobiolaging.2003.12.012.

Hardy, J; (2004) Toward Alzheimer therapies based on genetic knowledge. Annu Rev Med , 55 15 - 25. 10.1146/annurev.med.55.091902.103607.

Hardy, J; (2003) Alzheimer's disease: genetic evidence points to a single pathogenesis. Ann Neurol , 54 (2) 143 - 144. 10.1002/ana.10624.

Hardy, J; (2003) The relationship between Lewy body disease, Parkinson's disease, and Alzheimer's disease. Annals of the New York Academy of Sciences , 991 167 - 170.

Hardy, J; (2003) The relationship between amyloid and tau. J Mol Neurosci , 20 (2) 203 - 206. 10.1385/JMN:20:2:203.

Hardy, J; (2002) Testing times for the "amyloid cascade hypothesis". Neurobiol Aging , 23 (6) 1073 - 1074.

Hardy, J; (2002) Pathways to primary neurodegenerative disease. Neurologia , 17 (8) 399 - 401.

Hardy, J; (2002) The real problem in association studies. Am J Med Genet , 114 (2) 253 - ?.

Hardy, J; (2001) The human genome is sequenced: what does it mean and why is it important? Arch Neurol , 58 (11) 1748 - 1749.

Hardy, J; (2001) Genetic dissection of neurodegenerative disease. CLINICAL NEUROSCIENCE RESEARCH , 1 (1-2) , Article PII S1566-2772(00)00013-X. 10.1016/S1566-2772(00)00013-X.

Hardy, J; (1999) Pathways to primary neurodegenerative disease. Mayo Clin Proc , 74 (8) 835 - 837. 10.4065/74.8.835.

Hardy, J; (1999) The shorter amyloid cascade hypothesis. Neurobiol Aging , 20 (1) 85 - ?.

Hardy, J; (1997) The 'amyloid cascade hypothesis' of AD: decoy or real McCoy? Reply. TRENDS IN NEUROSCIENCES , 20 (12) 559 - 559.

Hardy, J; (1997) Amyloid, the presenilins and Alzheimer's disease. Trends Neurosci , 20 (4) 154 - 159.

Hardy, J; (1997) The Alzheimer family of diseases: many etiologies, one pathogenesis? Proc Natl Acad Sci U S A , 94 (6) 2095 - 2097.

Hardy, J; (1996) New insights into the genetics of Alzheimer's disease. Ann Med , 28 (3) 255 - 258.

Hardy, J; (1995) Apolipoprotein E in the genetics and epidemiology of Alzheimer's disease. Am J Med Genet , 60 (5) 456 - 460. 10.1002/ajmg.1320600519.

Hardy, J; (1994) Lewy bodies in Alzheimer's disease in which the primary lesion is a mutation in the amyloid precursor protein. Neurosci Lett , 180 (2) 290 - 291.

Hardy, J; (1994) Alzheimer's disease. Clinical molecular genetics. Clin Geriatr Med , 10 (2) 239 - 247.

Hardy, J; (1994) ApoE, amyloid, and Alzheimer's disease. Science , 263 (5146) 454 - 455.

Hardy, J; (1993) "Prion dementia". Lancet , 341 (8845) 626 - 627.

Hardy, J; (1992) Framing beta-amyloid. Nat Genet , 1 (4) 233 - 234. 10.1038/ng0792-233.

Hardy, J; (1992) An 'anatomical cascade hypothesis' for Alzheimer's disease. Trends Neurosci , 15 (6) 200 - 201.

Hardy, J; (1991) Prion dimers: a deadly duo? Trends Neurosci , 14 (10) 423 - 424.

Hardy, J; (1989) 'Slow virus' dementias: prion gene holds the key. Trends Neurosci , 12 (5) 168 - 169.

Hardy, J; (1988) Friedreich's ataxia gene localized to chromosome 9. Trends Neurosci , 11 (11) 479 - ?.

Hardy, J; (1988) Molecular biology and Alzheimer's disease: more questions than answers. Trends Neurosci , 11 (7) 293 - 294.

Hardy, J; (1988) Mouse models of human neurogenetic disorders. Trends Neurosci , 11 (3) 89 - 90.

Hardy, J; Adolfsson, R; Alafuzoff, I; Bucht, G; Marcusson, J; Nyberg, P; Perdahl, E; (1985) Transmitter deficits in Alzheimer's disease. Neurochem Int , 7 (4) 545 - 563.

Hardy, J; Allsop, D; (1991) Amyloid deposition as the central event in the aetiology of Alzheimer's disease. Trends Pharmacol Sci , 12 (10) 383 - 388.

Hardy, J; Bogdanovic, N; Winblad, B; Portelius, E; Andreasen, N; Cedazo-Minguez, A; Zetterberg, H; (2014) Pathways to Alzheimer's disease. J Intern Med , 275 (3) 296 - 303.

Hardy, J; Cai, H; Cookson, MR; Gwinn-Hardy, K; Singleton, A; (2006) Genetics of Parkinson's disease and parkinsonism. Ann Neurol , 60 (4) 389 - 398. 10.1002/ana.21022.

Hardy, J; Chartier-Harlin, MC; Mullan, M; (1992) Alzheimer disease: the new agenda. Am J Hum Genet , 50 (3) 648 - 651.

Hardy, J; Coleman, PD; (2009) Genetic Analysis Publications in Neurobiology of Aging. NEUROBIOLOGY OF AGING , 30 (4) 506 - 506. 10.1016/j.neurobiolaging.2009.01.003.

Hardy, J; Cookson, MR; Singleton, A; (2003) Genes and parkinsonism. Lancet Neurol , 2 (4) 221 - 228.

Hardy, J; Cowburn, R; Barton, A; Reynolds, G; Dodd, P; Wester, P; O'Carroll, AM; (1987) A disorder of cortical GABAergic innervation in Alzheimer's disease. Neurosci Lett , 73 (2) 192 - 196.

Hardy, J; Cowburn, R; Barton, A; Reynolds, G; Lofdahl, E; O'Carroll, AM; Wester, P; (1987) Region-specific loss of glutamate innervation in Alzheimer's disease. Neurosci Lett , 73 (1) 77 - 80.

Hardy, J; Crook, R; (2001) Presenilin mutations line up along transmembrane alpha-helices. Neurosci Lett , 306 (3) 203 - 205.

Hardy, J; Crook, R; Perry, R; Raghavan, R; Roberts, G; (1994) ApoE genotype and Down's syndrome. Lancet , 343 (8903) 979 - 980.

Hardy, J; Crook, R; Prihar, G; Roberts, G; Raghavan, R; Perry, R; (1994) Senile dementia of the Lewy body type has an apolipoprotein E epsilon 4 allele frequency intermediate between controls and Alzheimer's disease. Neurosci Lett , 182 (1) 1 - 2.

Hardy, J; Cullen, K; (2006) Amyloid at the blood vessel wall. Nat Med , 12 (7) 756 - 757. 10.1038/nm0706-756.

Hardy, J; Duff, K; (1993) Heterogeneity in Alzheimer's disease. Ann Med , 25 (5) 437 - 440.

Hardy, J; Duff, K; Hardy, KG; Perez-Tur, J; Hutton, M; (1998) Genetic dissection of Alzheimer's disease and related dementias: amyloid and its relationship to tau. Nat Neurosci , 1 (5) 355 - 358. 10.1038/1565.

Hardy, J; Goate, A; Owen, M; Rossor, M; (1989) Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child.