UCL Discovery

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Bandopadhyay, R and Kingsbury, AE and Cookson, MR and Reid, AR and Evans, IM and Hope, AD and Pittman, AM and Lashley, T and Canet-Aviles, R and Miller, DW and McLendon, C and Strand, C and Leonard, AJ and Abou-Sleiman, PM and Healy, DG and Ariga, H and Wood, NW and de Silva, R and Revesz, T and Hardy, JA and Lees, AJ (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 and O'Farrell, C and Daya, S and Ahmad, R and Miller, DW and Hardy, J and Farrer, MJ and Cookson, MR (2003) Co-ordinate transcriptional regulation of dopamine synthesis genes by alpha-synuclein in human neuroblastoma cell lines. JOURNAL OF NEUROCHEMISTRY , 85 (4) 957 - 968. 10.1046/j.1471-4159.2003.01742.x.

Baptista, MJ and O'Farrell, C and Hardy, J and Cookson, MR (2003) Microarray analysis reveals induction of heat shock proteins mRNAs by the torsion dystonia protein, TorsinA. NEUROSCIENCE LETTERS , 343 (1) 5 - 8. 10.1016/S0304-3940(03)00302-1.

Bartolome, F and Wu, H-C and Burchell, VS and Preza, E and Wray, S and Mahoney, CJ and Fox, NC and Calvo, A and Canosa, A and Moglia, C and Mandrioli, J and Chiò, A and Orrell, RW and Houlden, H and Hardy, J and Abramov, AY and Plun-Favreau, H (2013) Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron , 78 (1) 57 - 64.

Bartolome, F and Wu, HC and Burchell, VS and Preza, E and Wray, S and Mahoney, CJ and Fox, NC and Calvo, A and Canosa, A and Moglia, C and Mandrioli, J and Chiò, A and Orrell, RW and Houlden, H and Hardy, J and Abramov, AY and Plun-Favreau, H (2013) Pathogenic VCP Mutations Induce Mitochondrial Uncoupling and Reduced ATP Levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028.

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Beck, J and Poulter, M and Hensman, D and Rohrer, JD and Mahoney, CJ and Adamson, G and Campbell, T and Uphill, J and Borg, A and Fratta, P and Orrell, RW and Malaspina, A and Rowe, J and Brown, J and Hodges, J and Sidle, K and Polke, JM and Houlden, H and Schott, JM and Fox, NC and Rossor, MN and Tabrizi, SJ and Isaacs, AM and Hardy, J and Warren, JD and Collinge, J and Mead, S (2013) Large C9orf72 hexanucleotide repeat expansions are seen in multiple neurodegenerative syndromes and are more frequent than expected in the UK population. American Journal of Human Genetics , 92 (3) 345 - 353.

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Camargos, ST and Gurgel-Giannetti, J and Lees, A and Hardy, J and Singleton, A and Cardoso, F (2011) Low prevalence of PANK2 mutations in Brazilian patients with early onset generalised dystonia and basal ganglia abnormalities on MRI. JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY , 82 (9) 1059 - +. 10.1136/jnnp.2009.200808.

Caselli, RJ and Hentz, JG and Osborne, D and Graff-Radford, NR and Barbieri, CJ and Alexander, GE and Hall, GR and Reiman, EM and Hardy, J and Saunders, AM (2002) Apolipoprotein E and intellectual achievement. JOURNAL OF THE AMERICAN GERIATRICS SOCIETY , 50 (1) 49 - 54. 10.1046/j.1532-5415.2002.50007.x.

Caselli, RJ and Osborne, D and Reiman, EM and Hentz, JG and Barbieri, CJ and Saunders, AM and Hardy, J and Graff-Radford, NR and Hall, GR and Alexander, GE (2001) Preclinical cognitive decline in late middle-aged asymptomatic apolipoprotein E-e4/4 homozygotes: a replication study. JOURNAL OF THE NEUROLOGICAL SCIENCES , 189 (1-2) 93 - 98. 10.1016/S0022-510X(01)00577-9.

Charlesworth, G and Gandhi, S and Bras, JM and Barker, RA and Burn, DJ and Chinnery, PF and Gentleman, SM and Guerreiro, R and Hardy, J and Holton, JL and Lees, A and Morrison, K and Sheerin, U-M and Williams, N and Morris, H and Revesz, T and Wood, NW (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiology of Aging , 33 (4) 838.e7 - 838.e11.

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Guerreiro, RJ and Bras, JM and Santana, I and Januario, C and Santiago, B and Morgadinho, AS and Ribeiro, MH and Hardy, J and Singleton, A and Oliveira, C (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. An open access publication. A version is also available from UCL Discovery.

Guerreiro, RJ and Gustafson, DR and Hardy, J (2012) The genetic architecture of Alzheimer's disease: beyond APP, PSENs and APOE. Neurobiol Aging , 33 (3) 437 - 456. 10.1016/j.neurobiolaging.2010.03.025.

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

Guerreiro, RJ and Lohmann, E and Brás, JM and Gibbs, JR and Rohrer, JD and Gurunlian, N and Dursun, B and Bilgic, B and Hanagasi, H and Gurvit, H and Emre, M and Singleton, A and Hardy, J (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 and Santana, I and Bras, JM and Revesz, T and Rebelo, O and Ribeiro, MH and Santiago, B and Oliveira, CR and Singleton, A and Hardy, J (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 and Vaskov, T and Crews, C and Singleton, A and Hardy, J (2009) A Case of Dementia With PRNP D178Ncis-129M and No Insomnia. ALZ DIS ASSOC DIS , 23 (4) 415 - 417.

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

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

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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 (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.

Hardy, J (2012) CSF biomarking for diagnosis and treatment assessment in neurodegeneration. JOURNAL OF NEUROCHEMISTRY , 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 (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. An open access publication

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 A beta 42 have a function related to blood homeostasis? NEUROCHEMICAL RESEARCH , 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 REPORTS , 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) Bad luck: An unappreciated limitation in the interpretation of twin studies. AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS , 141B (6) 681 - 681. 10.1002/ajmg.b.30353.

Hardy, J (2006) Amyloid double trouble. NATURE GENETICS , 38 (1) 11 - 12. 10.1038/ng0106-11.

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

Hardy, J (2004) Is amyloid plaque imaging the key to monitoring brain pathology of Alzheimer's disease in vivo? For. EUROPEAN JOURNAL OF NUCLEAR MEDICINE AND MOLECULAR IMAGING , 31 (11) 1539 - 1540. 10.1007/s00259-004-1676-9.

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

Hardy, J (2004) Toward Alzheimer therapies based on genetic knowledge. ANNUAL REVIEW OF MEDICINE , 55 15 - 25. 10.1146/annurev.med.55.091902.103607.

Hardy, J (2003) Alzheimer's disease: Genetic evidence points to a single pathogenesis. ANNALS OF NEUROLOGY , 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. JOURNAL OF MOLECULAR NEUROSCIENCE , 20 (2) 203 - 206. 10.1385/JMN:20:2:203.

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

Hardy, J (2002) The real problem in association studies. AMERICAN JOURNAL OF MEDICAL GENETICS , 114 (2) 253 - 253. 10.1002/ajmg.10294.

Hardy, J (2002) Testing times for the "amyloid cascade hypothesis". NEUROBIOLOGY OF AGING , 23 (6) , Article PII S0197-4580(02)00042-8. 10.1016/S0197-4580(02)00042-8.

Hardy, J (2001) The human genome is sequenced - What does it mean and why is it important? ARCHIVES OF NEUROLOGY , 58 (11) 1748 - 1749. 10.1001/archneur.58.11.1748.

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 CLINIC PROCEEDINGS , 74 (8) 835 - 837.

Hardy, J (1999) The shorter amyloid cascade hypothesis. NEUROBIOLOGY OF AGING , 20 (1) 85 - 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 IN NEUROSCIENCES , 20 (4) 154 - 159. 10.1016/S0166-2236(96)01030-2.

Hardy, J (1997) The Alzheimer family of diseases: Many etiologies, one pathogenesis? PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA , 94 (6) 2095 - 2097. 10.1073/pnas.94.6.2095.

Hardy, J (1996) New insights into the genetics of Alzheimer's disease. ANNALS OF MEDICINE , 28 (3) 255 - 258. 10.3109/07853899609033127.

HARDY, J (1995) APOLIPOPROTEIN-E IN THE GENETICS AND EPIDEMIOLOGY OF ALZHEIMERS-DISEASE. AMERICAN JOURNAL OF MEDICAL GENETICS , 60 (5) 456 - 460. 10.1002/ajmg.1320600519.

HARDY, J (1994) LEWY BODIES IN ALZHEIMERS-DISEASE IN WHICH THE PRIMARY LESION IS A MUTATION IN THE AMYLOID PRECURSOR PROTEIN. NEUROSCIENCE LETTERS , 180 (2) 290 - 291. 10.1016/0304-3940(94)90541-X.

HARDY, J (1994) ALZHEIMERS-DISEASE - CLINICAL MOLECULAR-GENETICS. CLINICS IN GERIATRIC MEDICINE , 10 (2) 239 - 247.

HARDY, J (1994) APOE, AMYLOID, AND ALZHEIMERS-DISEASE. SCIENCE , 263 (5146) 454 - 455. 10.1126/science.8290946.

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HARDY, J (1992) FRAMING BETA-AMYLOID. NATURE GENETICS , 1 (4) 233 - 234. 10.1038/ng0792-233.

HARDY, J (1992) AN ANATOMICAL CASCADE HYPOTHESIS FOR ALZHEIMERS-DISEASE. TRENDS IN NEUROSCIENCES , 15 (6) 200 - 201. 10.1016/0166-2236(92)90033-5.

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HARDY, J and ADOLFSSON, R and ALAFUZOFF, I and BUCHT, G and MARCUSSON, J and NYBERG, P and PERDAHL, E and WESTER, P and WINBLAD, B (1985) TRANSMITTER DEFICITS IN ALZHEIMERS-DISEASE. NEUROCHEMISTRY INTERNATIONAL , 7 (4) 545 - 563. 10.1016/0197-0186(85)90050-6.

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HARDY, J and BARTON, A and LOFDAHL, E and CHEETHAM, S and JOHNSTON, G and DODD, P (1986) UPTAKE OF GAMMA-AMINOBUTYRIC-ACID AND GLYCINE BY SYNAPTOSOMES FROM POSTMEM HUMAN-BRAIN. JOURNAL OF NEUROCHEMISTRY , 47 (2) 460 - 467.

HARDY, J and BATEMAN, D and KIDD, A and EDWARDSON, J and SINGH, G and DODD, P (1984) AMINO-ACID-TRANSPORT BY SYNAPTOSOMES ISOLATED FROM POST-MORTEM HUMAN-BRAIN. JOURNAL OF NEURAL TRANSMISSION , 60 (1) 57 - 62. 10.1007/BF01254765.

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HARDY, J and BOAKES, R and THOMAS, D and KIDD, A and EDWARDSON, J and VIRMANI, M and TURNER, J and DODD, P (1984) RELEASE OF ASPARTATE AND GLUTAMATE CAUSED BY CHLORIDE REDUCTION IN SYNAPTOSOMAL INCUBATION MEDIA. JOURNAL OF NEUROCHEMISTRY , 42 (3) 875 - 877. 10.1111/j.1471-4159.1984.tb02763.x.

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

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Hardy, J and 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 and Cookson, MR and Singleton, A (2003) Genes and parkinsonism. LANCET NEUROLOGY , 2 (4) 221 - 228. 10.1016/S1474-4422(03)00350-8.

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

HARDY, J and COWBURN, R and BARTON, A and REYNOLDS, G and DODD, P and WESTER, P and OCARROLL, A and LOFDAHL, E and WINBLAD, B (1987) A DISORDER OF CORTICAL GABAERGIC INNERVATION IN ALZHEIMERS-DISEASE. NEUROSCIENCE LETTERS , 73 (2) 192 - 196. 10.1016/0304-3940(87)90016-4.

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

HARDY, J and COWBURN, R and BARTON, A and REYNOLDS, G and LOFDAHL, E and OCARROLL, A and WESTER, P and WINBLAD, B (1987) REGION-SPECIFIC LOSS OF GLUTAMATE INNERVATION IN ALZHEIMERS-DISEASE. NEUROSCIENCE LETTERS , 73 (1) 77 - 80. 10.1016/0304-3940(87)90034-6.

Hardy, J and Crook, R (2001) Presenilin mutations line up along transmembrane alpha-helices. NEUROSCIENCE LETTERS , 306 (3) 203 - 205. 10.1016/S0304-3940(01)01910-3.

HARDY, J and CROOK, R and PERRY, R and RAGHAVAN, R and ROBERTS, G (1994) APOE GENOTYPE AND DOWNS-SYNDROME. LANCET , 343 (8903) 979 - 980. 10.1016/S0140-6736(94)90106-6.

HARDY, J and CROOK, R and PRIHAR, G and ROBERTS, G and RAGHAVAN, R and PERRY, R (1994) SENILE DEMENTIA OF THE LEWY BODY TYPE HAS AN APOLIPOPROTEIN-E EPSILON-4 ALLELE FREQUENCY INTERMEDIATE BETWEEN CONTROLS AND ALZHEIMERS-DISEASE. NEUROSCIENCE LETTERS , 182 (1) 1 - 2. 10.1016/0304-3940(94)90190-2.

Hardy, J and Cullen, K (2006) Amyloid at the blood vessel wall. NATURE MEDICINE , 12 (7) 756 - 757. 10.1038/nm0706-756.

HARDY, J and DAVIES, D (1988) ALZHEIMERS-DISEASE. BRITISH JOURNAL OF HOSPITAL MEDICINE , 39 (5) 372 - &.

HARDY, J and DODD, P (1983) METABOLIC AND FUNCTIONAL-STUDIES ON POSTMORTEM HUMAN-BRAIN. NEUROCHEMISTRY INTERNATIONAL , 5 (3) 253 - 266. 10.1016/0197-0186(83)90027-X.

HARDY, J and DODD, P and OAKLEY, A and KIDD, A and PERRY, R and EDWARDSON, J (1982) USE OF POSTMORTEM HUMAN SYNAPTOSOMES FOR STUDIES OF METABOLISM AND TRANSMITTER AMINO-ACID RELEASE. NEUROSCIENCE LETTERS , 33 (3) 317 - 322. 10.1016/0304-3940(82)90392-5.

HARDY, J and DODD, P and OAKLEY, A and PERRY, R and EDWARDSON, J and KIDD, A (1983) METABOLICALLY ACTIVE SYNAPTOSOMES CAN BE PREPARED FROM FROZEN RAT AND HUMAN-BRAIN. JOURNAL OF NEUROCHEMISTRY , 40 (3) 608 - 614. 10.1111/j.1471-4159.1983.tb08024.x.

HARDY, J and DUFF, K (1993) HETEROGENEITY IN ALZHEIMERS-DISEASE. ANNALS OF MEDICINE , 25 (5) 437 - 440. 10.3109/07853899309147308.

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

Hardy, J and Goate, A and Owen, M and Rossor, M (1989) Presenile dementia associated with mosaic trisomy 21 in a patient with a Down syndrome child. Lancet , 2 (8665) 743 - ?.

Hardy, J and Guerreiro, R (2011) A new way APP mismetabolism can lead to Alzheimer's disease. EMBO MOL MED , 3 (5) 247 - 248. 10.1002/emmm.201100139. An open access publication

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