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1

10.1038/22006

George-Hyslop, Peter H. St, Westaway, David A.

Journal:

Year:

1999

Language:

english

File:

PDF, 98 KB

english, 1999

2

Bilineal Disease and Trans-Heterozygotes in Autosomal Dominant Polycystic Kidney Disease

York Pei, Andrew D. Paterson, Kai Rong Wang, Ning He, Donna Hefferton, Terry Watnick, Greg G. Germino, Patrick Parfrey, Stefan Somlo, Peter St. George-Hyslop

Journal:

The American Journal of Human Genetics

Year:

2001

Language:

english

File:

PDF, 602 KB

english, 2001

3

Association of apolipoprotein E allele 4 with late-onset familial and sporadic Alzheimer's disease

Saunders, A. M., Strittmatter, W. J., Schmechel, D., St. George-Hyslop, P. H., Pericak-Vance, M. A., Joo, S. H., Rosi, B. L., Gusella, J. F., Crapper-MacLachlan, D. R., Alberts, M. J., Hulette, C., Cr

Journal:

Year:

1993

Language:

english

File:

PDF, 1.04 MB

english, 1993

4

The genetic defect causing familial Alzheimer's disease maps on chromosome 21

St George-Hyslop, P., Tanzi, R., Polinsky, R., Haines, J., Nee, L, Watkins, P., Myers, R., Feldman, R., Pollen, D, Drachman, D, al., e.

Journal:

Year:

1987

Language:

english

File:

PDF, 1.42 MB

english, 1987

5

Anatomic, Metabolic, Neuropsychological, and Molecular Genetic Studies of Three Pairs of Identical Twins Discordant for Dementia of the Alzheimer's Type

Kumar, A., Schapiro, M. B., Grady, C. L., Matocha, M. F., Haxby, J. V., Moore, A. M., Luxenberg, J. S., George-Hyslop, P. H. S., Robinette, C. D., Ball, M. J., Rapoport, S. I.

Journal:

Archives of Neurology

Year:

1991

Language:

english

File:

PDF, 9.72 MB

english, 1991

6

GENETICS OF DEMENTIA

St George-Hyslop, Peter

Journal:

CONTINUUM: Lifelong Learning in Neurology

Year:

2008

Language:

english

File:

PDF, 637 KB

english, 2008

7

Improved Clinical Performance and Teamwork of Pediatric Interprofessional Resuscitation Teams With a Simulation-Based Educational Intervention*

Gilfoyle, Elaine, Koot, Deanna A., Annear, John C., Bhanji, Farhan, Cheng, Adam, Duff, Jonathan P., Grant, Vincent J., St. George-Hyslop, Cecilia E., Delaloye, Nicole J., Kotsakis, Afrothite, McCoy, C

Journal:

Pediatric Critical Care Medicine

Year:

2017

Language:

english

File:

PDF, 599 KB

english, 2017

8

Identification of Small Molecule Inhibitors of Tau Aggregation by Targeting Monomeric Tau As a Potential Therapeutic Approach for Tauopathies

Pickhardt, Marcus, Neumann, Thomas, Schwizer, Daniel, Callaway, Kari, Vendruscolo, Michele, Schenk, Dale, George-Hyslop, Peter, Mandelkow, Eva, Dobson, Christopher, McConlogue, Lisa, Mandelkow, Eckhar

Journal:

Current Alzheimer Research

Year:

2015

Language:

english

File:

PDF, 11.23 MB

english, 2015

9

Genetic markers in the diagnosis of Alzheimer's disease

Rogaeva, Ekaterina, Tandon, Anurag, St. George-Hyslop, Peter H.

Journal:

Journal of Alzheimer's Disease

Year:

2001

File:

PDF, 156 KB

2001

10

Beta amyloid aggregates induce sensitised TLR4 signalling causing long-term potentiation deficit and ratÂ neuronal cell death

Hughes, Craig, Choi, Minee L., Yi, Jee-Hyun, Kim, Seung-Chan, Drews, Anna, George-Hyslop, Peter St., Bryant, Clare, Gandhi, Sonia, Cho, Kwangwook, Klenerman, David

Journal:

Communications Biology

Year:

2020

Language:

english

File:

PDF, 1.13 MB

english, 2020

11

Familial Alzheimer's disease: Site of mutation influences clinical phenotype

C. F. Lippa, J. M. Swearer, K. J. Kane, D. Nochlin, T. D. Bird, B. Ghetti, L. E. Nee, P. St. George-Hyslop, D. A. Pollen, D. A. Drachman

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 4.48 MB

english, 2000

12

Frontotemporal dementia with novel tau pathology and a Glu342Val tau mutation

Carol F. Lippa, Victoria Zhukareva, T. Kawarai, Kunihiro Uryu, M. Shafiq, L. E. Nee, J. Grafman, Yan Liang, Peter H. St George-Hyslop, John Q. Trojanowski, Virginia M.-Y. Lee

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 8.20 MB

english, 2000

13

Inherited myoclonus-dystonia: Evidence supporting genetic heterogeneity

D.A. Grimes, D. Bulman, P. St. George-Hyslop, A.E. Lang

Journal:

Movement Disorders

Year:

2001

Language:

english

File:

PDF, 46 KB

english, 2001

14

Monozygotic twins concordant for late-onset probable alzheimer disease with suspected alzheimer disease in four sibs

H. Karlinsky, J. M. Berg, A. Lennox, P. N. Ray, P. St. George-Hyslop, L. A. Farrer, M. E. Percy, D. F. Andrews, E. A. Atack

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 781 KB

english, 1992

15

Benign hereditary chorea: Clinical, genetic, and pathological findings

Galit Kleiner-Fisman, Ekaterina Rogaeva, William Halliday, Sylvain Houle, Toshitaka Kawarai, Christine Sato, Helena Medeiros, Peter H. St. George-Hyslop, Anthony E. Lang

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 390 KB

english, 2003

16

New locus for hereditary spastic paraplegia maps to chromosome 1p31.1-1p21.1

Antonio Orlacchio, Toshitaka Kawarai, Fabrizio Gaudiello, Peter H. St George-Hyslop, Roberto Floris, Giorgio Bernardi

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 230 KB

english, 2005

17

A comparison of neurological, metabolic, structural, and genetic evaluations in persons at risk for Huntington's disease

Dr Scott T. Grafton, John C. Mazziotta, Jorg J. Pahl, Peter St. George-Hyslop, Jonathan L. Haines, James Gusella, John M. Hoffman, Lewis R. Baxter, Michael E. Phelps

Journal:

Annals of Neurology

Year:

1990

Language:

english

File:

PDF, 883 KB

english, 1990

18

Are the associations between Alzheimer's disease and polymorphisms in the apolipoprotein E and the apolipoprotein CII genes due to linkage disequilibrium?

T. Tsuda, R. Lopez, E. A. Rogaeva, M. Freedman, E. Rogaev, D. Drachman, D. Pollen, J. Haines, Y. Liang, D. R. Crapper McLachlan, R. Duara, P. St George-Hyslop

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 469 KB

english, 1994

19

Homozygous inheritance of the Machado-Joseph disease gene

Dr. Anthony E. Lang, E. A. Rogaeva, T. Tsuda, J. Hutterer, Peter St George-Hyslop

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 524 KB

english, 1994

20

Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion

P. J. Tuite, E. A. Rogaeva, P. H. St George-Hyslop, Dr A. E. Lang

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 476 KB

english, 1995

21

The Glu318Gly mutation of the presenilin-1 gene does not necessarily cause Alzheimer's disease

Dr. Kari M. Mattila, Charlotte Forsell, Tuula Pirttila, Juha O. Rinne, Terho Lehtimaki, Matias Roytta, Lena Lilius, Anne Eerola, Peter H. St George-Hyslop, Harry Frey, Lars Lannfelt

Journal:

Annals of Neurology

Year:

1998

Language:

english

File:

PDF, 312 KB

english, 1998

22

Partial linkage map of chromosome 13q in the region of the Wilson disease and retinoblastoma genes

Jonathan L. Haines, Laurie Ozelius, Peter St George-Hyslop, Nancy S. Wexler, James F. Gusella, P. Michael Conneally, G. P. Vogler

Journal:

Genetic Epidemiology

Year:

1988

Language:

english

File:

PDF, 345 KB

english, 1988

23

Linkage analysis in familial Alzheimer disease: Description of the Duke and Boston data sets

Dr. M. A. Pericak-Vance, P. H. St. George-Hyslop, P. C. Gaskell Jr., J. Growdon, B. J. Crain, C. Hulette, J. F. Gusella, L. Yamaoka, R. E. Tanzi, A. D. Roses, J. L. Haines

Journal:

Genetic Epidemiology

Year:

1993

Language:

english

File:

PDF, 221 KB

english, 1993

24

The effect of alcohol and tobacco consumption, and apolipoprotein E genotype, on the age of onset in Alzheimer's disease

Dylan G. Harwood, Ari Kalechstein, Warren W. Barker, Silvia Strauman, Peter St. George-Hyslop, Casandra Iglesias, David Loewenstein, Ranjan Duara

Journal:

International Journal of Geriatric Psychiatry

Year:

2010

Language:

english

File:

PDF, 137 KB

english, 2010

25

Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease

Shinji Sato, Kouzin Kamino, Tetsuro Miki, Akira Doi, Kunio Ii, Peter H. St George-Hyslop, Toshio Ogihara, Yoshiyuki Sakaki

Journal:

Year:

1998

Language:

english

File:

PDF, 368 KB

english, 1998

26

Dopa-responsive dystonia presenting with prominent isolated bilateral resting leg tremor: Evidence for a role of parkin?

Ronald B. Postuma, Yoshiaki Furukawa, Ekaterina Rogaeva, Peter H. St. George-Hyslop, Matt J. Farrer, Anthony E. Lang

Journal:

Movement Disorders

Year:

2003

Language:

english

File:

PDF, 725 KB

english, 2003

27

Analysis of the glucocerebrosidase gene in Parkinson's disease

Christine Sato, Angharad Morgan, Anthony E. Lang, Shabnam Salehi-Rad, Toshitaka Kawarai, Yan Meng, Peter N. Ray, Lindsay A. Farrer, Peter St George-Hyslop, Ekaterina Rogaeva

Journal:

Movement Disorders

Year:

2005

Language:

english

File:

PDF, 184 KB

english, 2005

28

Clinical and genetic study of a large SPG4 Italian family

Antonio Orlacchio, Toshitaka Kawarai, Fabrizio Gaudiello, Antonio Totaro, Orazio Schillaci, Alessandro Stefani, Roberto Floris, Peter H. St. George-Hyslop, Sandro Sorbi, Giorgio Bernardi

Journal:

Movement Disorders

Year:

2005

Language:

english

File:

PDF, 173 KB

english, 2005

29

Clinical and genetic study of a Brazilian family with spastic paraplegia (SPG6 locus)

Renato P. Munhoz, Toshitaka Kawarai, Helio A. Teive, Salmo Raskin, Christine Sato, Yan Liang, Peter H. St. George-Hyslop, Ekaterina Rogaeva

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 82 KB

english, 2006

30

Homozygous and heterozygous PINK1 mutations: Considerations for diagnosis and care of Parkinson's disease patients

Cindy Zadikoff, Ekaterina Rogaeva, Ana Djarmati, Christine Sato, Shabnam Salehi-Rad, Peter St. George-Hyslop, Christine Klein, Anthony E. Lang

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 142 KB

english, 2006

31

Novel SPG6 mutation p.A100T in a Japanese family with autosomal dominant form of hereditary spastic paraplegia

Satoshi Kaneko, Toshitaka Kawarai, Edwin Yip, Shabnam Salehi-Rad, Christine Sato, Antonio Orlacchio, Giorgio Bernardi, Yan Liang, Hiroshi Hasegawa, Ekaterina Rogaeva, Peter St George-Hyslop

Journal:

Movement Disorders

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

32

Biology of presenilins as causative molecules for Alzheimer disease

Masaki Nishimura, Gang Yu, Peter H St George-Hyslop

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 234 KB

english, 1999

33

Mutation of conserved aspartates affect maturation of presenilin 1 and presenilin 2 complexes

G. Yu, F. Chen, M. Nishimura, H. Steiner, A. Tandon, T. Kawarai, S. Arawaka, A. Supala, Y-Q. Song, E. Rogaeva, E. Holmes, D. M. Zhang, P. Milman, P. Fraser, C. Haass, P. St George-Hyslop

Journal:

Acta Neurologica Scandinavica

Year:

2000

Language:

english

File:

PDF, 281 KB

english, 2000

34

The levels of mature glycosylated nicastrin are regulated and correlate with γ-secretase processing of amyloid β-precursor protein

Shigeki Arawaka, Hiroshi Hasegawa, Anurag Tandon, Christopher Janus, Fusheng Chen, Gang Yu, Kenji Kikuchi, Shingo Koyama, Takeo Kato, Paul E. Fraser, Peter St George-Hyslop

Journal:

Journal of Neurochemistry

Year:

2002

Language:

english

File:

PDF, 294 KB

english, 2002

35

A novel frameshift mutation induced by an adenosine insertion in the polycystic kidney disease 2 (PKD2) gene

Pei, York, Wang, Kairong, Kasenda, Margareth, Paterson, Andrew D., Liang, Yan, Huang, Eric, Lian, Jeromy, Rogovea, Ekaterina, Somlo, Stefan, St. George-Hyslop, Peter

Journal:

Kidney International

Year:

1998

Language:

english

File:

PDF, 243 KB

english, 1998

36

Gerstmann-Sträussler-Scheinker disease with the Q217R mutation mimicking frontotemporal dementia

John Woulfe, Andrew Kertesz, Inge Frohn, Sharon Bauer, Peter St. George-Hyslop, Catherine Bergeron

Journal:

Acta Neuropathologica

Year:

2005

Language:

english

File:

PDF, 348 KB

english, 2005

37

Widespread immunoreactivity of presenilin in neurons of normal and Alzheimer’s disease brains: double-labeling immunohistochemical study

Toshiki Uchihara, H. K. El Hachimi, C. Duyckaerts, J.-F. Foncin, Paul E. Fraser, Lyne Levesque, Peter H. S. George-Hyslop, Jean-Jacques Hauw

Journal:

Acta Neuropathologica

Year:

1996

Language:

english

File:

PDF, 643 KB

english, 1996

38

A novel mutation in the SPG3A gene (atlastin) in hereditary spastic paraplegia

M. Matsui, T. Kawarai, Y. Hase, H. Tomimoto, K. Iseki, E. Rogaeva, A. Orlacchio, G. Bernardi, P. St. George-Hyslop, R. Takahashi, M. Matsui

Journal:

Journal of Neurology

Year:

2007

Language:

english

File:

PDF, 1.30 MB

english, 2007

39

Further examination of the candidate genes in chromosome 12p13 locus for late-onset Alzheimer disease

Joseph H. Lee, Rong Cheng, Ekaterina Rogaeva, Yan Meng, Yaakov Stern, Vincent Santana, Rafael Lantigua, Martin Medrano, Ivonne Z. Jimenez-Velazquez, Lindsay A. Farrer, Peter St. George-Hyslop, Richard

Journal:

Year:

2008

Language:

english

File:

PDF, 309 KB

english, 2008

40

Mutations in the open reading frame of the β-site APP cleaving enzyme (BACE) locus are not a common cause of Alzheimer's disease

M. Nicolaou, Y.-Q. Song, C. Sato, A. Orlacchio, T. Kawarai, H. Medeiros, Y. Liang, S. Sorbi, E. Richard, E. Rogaev, Y. Moliaka, A. Bruni, R. Jorge, M. Percy, R. Duara, L. Farrer, P. St George-Hyslop,

Journal:

Year:

2001

Language:

english

File:

PDF, 42 KB

english, 2001

41

Loss of γ-secretase function impairs endocytosis of lipoprotein particles and membrane cholesterol homeostasis

Dieter Lütjohann, Irfan Y. Tamboli, Kai Prager, Dietmar R. Thal, Karin M. Thelen, Ilse Dewachter, Claus U. Pietrzik, Peter St. George-Hyslop, Sangram S. Sisodia, Ulrike Müller, Fred van Leuven, Jochen

Journal:

Chemistry and Physics of Lipids

Year:

2008

Language:

english

File:

PDF, 50 KB

english, 2008

42

Occult risk factor for the development of cerebral edema in children with diabetic ketoacidosis: possible role for stomach emptying

Ana PCP Carlotti, C St George-Hyslop, A-M Guerguerian, D Bohn, KS Kamel, ML Halperin

Journal:

Pediatric Diabetes

Year:

2009

Language:

english

File:

PDF, 570 KB

english, 2009

43

A novel presenilin 2 mutation (V393M) in early-onset dementia with profound language impairment

S. G. Lindquist, L. Hasholt, J. M. C. Bahl, N. H. H. Heegaard, B. B. Andersen, A. Nørremølle, J. Stokholm, M. Schwartz, M. Batbayli, H. Laursen, R. Pardossi-Piquard, F. Chen, P. St George-Hyslop, G.

Journal:

European Journal of Neurology

Year:

2008

Language:

english

File:

PDF, 222 KB

english, 2008

44

Presenilin-directed inhibitors of γ-secretase trigger caspase 3 activation in presenilin-expressing and presenilin-deficient cells

Cristine Alves da Costa, Erwan Ayral, Jean-François Hernandez, Peter St George-Hyslop, Frédéric Checler

Journal:

Journal of Neurochemistry

Year:

2004

Language:

english

File:

PDF, 215 KB

english, 2004

45

Neprilysin activity and expression are controlled by nicastrin

R. Pardossi-Piquard, J. Dunys, G. Yu, P. St. George-Hyslop, C. Alves da Costa, F. Checler

Journal:

Journal of Neurochemistry

Year:

2006

Language:

english

File:

PDF, 392 KB

english, 2006

46

p53-Dependent control of cell death by nicastrin: lack of requirement for presenilin-dependent γ-secretase complex

Raphaëlle Pardossi-Piquard, Julie Dunys, Emilie Giaime, Marie-Victoire Guillot-Sestier, Peter St. George-Hyslop, Frédéric Checler, Cristine Alves da Costa

Journal:

Journal of Neurochemistry

Year:

2009

Language:

english

File:

PDF, 871 KB

english, 2009

47

Assembly of the presenilin γ-/ε-secretase complex

P. St George-Hyslop, P. E. Fraser

Journal:

Journal of Neurochemistry

Year:

2012

Language:

english

File:

PDF, 301 KB

english, 2012

48

Genetic Factors in the Genesis of Alzheimer's Disease

P. H. ST GEORGE-HYSLOP

Journal:

Annals of the New York Academy of Sciences

Year:

2000

Language:

english

File:

PDF, 187 KB

english, 2000

49

The genetic defect in familial Alzheimer's disease is not tightly linked to the amyloid β-protein gene

Tanzi, Rudolph E., George-Hyslop, Peter H. St, Haines, Jonathan L., Polinsky, Ronald J., Nee, Linda, Foncin, Jean-Francois, Neve, Rachael L., McClatchey, Andrea I., Conneally, P. Michael, Gusella, Jam

Journal:

Year:

1987

File:

PDF, 269 KB

1987

50

Genetic linkage studies suggest that Alzheimer's disease is not a single homogeneous disorder

St George-Hyslop, P. H., Haines, J. L., Farrer, L. A., Polinsky, R., Broeckhoven, C. Van, Goate, A., McLachlan, D. R. Crapper, Orr, H., Bruni, A. C., Sorbi, S.

Journal:

Year:

1990

File:

PDF, 451 KB

1990

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