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1

CYLD is a causative gene for frontotemporal dementia â amyotrophic lateral sclerosis

Dobson-Stone, Carol, Hallupp, Marianne, Shahheydari, Hamideh, Ragagnin, Audrey M G, Chatterton, Zac, Carew-Jones, Francine, Shepherd, Claire E, Stefen, Holly, Paric, Esmeralda, Fath, Thomas, Thompson,

Journal:

Year:

2020

Language:

english

File:

PDF, 1.14 MB

english, 2020

2

Novel Leu723Pro amyloid precursor protein mutation increases amyloid β42(43) peptide levels and induces apoptosis

John B. J. Kwok, Qiao-Xin Li, Marianne Hallupp, Scott Whyte, David Ames, Konrad Beyreuther, Colin L. Masters, Peter R. Schofield

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 3.23 MB

english, 2000

3

Variable phenotype of Alzheimer's disease with spastic paraparesis

Margaret J. Smith, John B.J. Kwok, Catriona A. McLean, Jillian J. Kril, G. Anthony Broe, Garth A. Nicholson, Roberto Cappai, Marianne Hallupp, Richard G.H. Cotton, Colin L. Masters, Peter R. Schofield

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 6.37 MB

english, 2001

4

Tau haplotypes regulate transcription and are associated with Parkinson's disease

John B. J. Kwok, Erdahl T. Teber, Clement Loy, Marianne Hallupp, Garth Nicholson, George D. Mellick, Daniel D. Buchanan, Peter A. Silburn, Peter R. Schofield

Journal:

Annals of Neurology

Year:

2004

Language:

english

File:

PDF, 195 KB

english, 2004

5

GSK3B polymorphisms alter transcription and splicing in Parkinson's disease

John B. J. Kwok, Marianne Hallupp, Clement T. Loy, Daniel K. Y. Chan, Jean Woo, George D. Mellick, Daniel D. Buchanan, Peter A. Silburn, Glenda M. Halliday, Peter R. Schofield

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 472 KB

english, 2005

6

Glycogen synthase kinase-3β and tau genes interact in Alzheimer's disease

John B. J. Kwok, Clement T. Loy, Gillian Hamilton, Edmond Lau, Marianne Hallupp, Julie Williams, Michael J. Owen, G. Anthony Broe, Nelson Tang, Linda Lam, John F. Powell, Simon Lovestone, Peter R. Sch

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 258 KB

english, 2008

7

Frequency of tau mutations in familial and sporadic frontotemporal dementia and other tauopathies

Prudence M. Stanford, William S. Brooks, Erdahl T. Teber, Marianne Hallupp, Catriona McLean, Glenda M. Halliday, Ralph N. Martins, John B. J. Kwok, Peter R. Schofield

Journal:

Journal of Neurology

Year:

2004

Language:

english

File:

PDF, 250 KB

english, 2004

8

Variable presentation of Alzheimer's disease and/or spastic paraparesis phenotypes in pedigrees with a novel PS-1 exon 9 gene deletion or exon 9 splice acceptor mutations

John B.J. Kwok, Magaret J. Smith, William S. Brooks, Jillian Kril, Catriona Mclean, Marianne Hallupp, Peter R. Schofield

Journal:

Neurobiology of Aging

Year:

2000

Language:

english

File:

PDF, 188 KB

english, 2000

9

P1-332: Glycogen synthase kinase -3 beta polymorphisms interact with Tau haplotypes in Alzheimer’s disease

John B. Kwok, Marianne Hallupp, Clement T. Loy, Denise H. Harold, Julie Williams, Michael J. Owen, Simon Lovestone, John Powell, G. Anthony Broe, Peter R. Schofield

Journal:

Alzheimer's & Dementia

Year:

2006

Language:

english

File:

PDF, 67 KB

english, 2006

10

Sigma non-opioid intracellular receptor 1 and neurodegeneration: prevalence of mutations and therapeutic implications

Carol Dobson-Stone, Agnes Luty, Marianne Hallupp, Kirsten Coupland, William Brooks, Peter Panegyres, Olivier Piguet, G Anthony Broe, Tomasz Sobow, Cezary Zekanowski, Glenda Halliday, Peter Schofield,

Journal:

Alzheimer's & Dementia

Year:

2011

Language:

english

File:

PDF, 88 KB

english, 2011

11

P3-312

Loy, Clement T., Kwok, John B., Blair, Ian P., Hallupp, Marianne, Todd, Elizabeth, Schofield, Peter R.

Journal:

Alzheimer's & Dementia

Year:

2006

Language:

english

File:

PDF, 57 KB

english, 2006

12

SIGMAR1 Association Analysis With Dementia And Parkinsonism Phenotypes

Dobson-Stone, Carol, Hallupp, Marianne, Schofield, Peter R., Kwok, John B.J.

Journal:

Alzheimer's & Dementia

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

13

DNA methylation of the MAPT gene in Parkinson's disease cohorts and modulation by vitamin E In Vitro

Coupland, Kirsten G., Mellick, George D., Silburn, Peter A., Mather, Karen, Armstrong, Nicola J., Sachdev, Perminder S., Brodaty, Henry, Huang, Yue, Halliday, Glenda M., Hallupp, Marianne, Kim, Woojin

Journal:

Movement Disorders

Year:

2014

Language:

english

File:

PDF, 514 KB

english, 2014

14

C9ORF72 repeat expansion in clinical and neuropathologic frontotemporal dementia cohorts

Dobson-Stone, C., Hallupp, M., Bartley, L., Shepherd, C. E., Halliday, G. M., Schofield, P. R., Hodges, J. R., Kwok, J. B. J.

Journal:

Year:

2012

Language:

english

File:

PDF, 387 KB

english, 2012

15

A functional assay for enhancer-binding proteins

Hallupp, M., Strãtling, W.H.

Journal:

Nucleic Acids Research

Year:

1988

Language:

english

File:

PDF, 67 KB

english, 1988

16

Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?

Dobson-Stone, C., Shaw, A. D., Hallupp, M., Bartley, L., McCann, H., Brooks, W. S., Loy, C. T., Schofield, P. R., Mather, K. A., Kochan, N. A., Sachdev, P. S., Halliday, G. M., Piguet, O., Hodges, J.

Journal:

Year:

2015

Language:

english

File:

PDF, 343 KB

english, 2015

17

Endogenous progesterone levels and frontotemporal dementia: modulation of TDP-43 and Tau levels in vitro and treatment of the A315T TARDBP mouse model

Dang, T. N. T., Dobson-Stone, C., Glaros, E. N., Kim, W. S., Hallupp, M., Bartley, L., Piguet, O., Hodges, J. R., Halliday, G. M., Double, K. L., Schofield, P. R., Crouch, P. J., Kwok, J. B. J.

Journal:

Disease Models & Mechanisms

Year:

2013

Language:

english

File:

PDF, 340 KB

english, 2013

18

Two novel (M233T and ρ278T) presenilin-1 mutations in early-onset Alzheimerʼs disease pedigrees and preliminary evidence for association of presenilin-1 mutations with a novel phenotype

Kwok, John B. J., Taddei, Kevin, Hallupp, Marianne, Fisher, Christopher, Brooks, William S., Broe, Gerald A., Hardy, John, Fulham, Michael J., Nicholson, Garth A., Stell, Rick, St. George Hyslop, Pete

Journal:

Year:

1997

Language:

english

File:

PDF, 734 KB

english, 1997

19

Two novel presenilin-1 mutations (Ser169Leu and Pro436Gln) associated with very early onset Alzheimerʼs disease

Taddei, Kevin, Kwok, John B. J., Kril, Jillian J., Halliday, Glenda M., Creasey, Helen, Hallupp, Marianne, Fisher, Christopher, Brooks, William S., Chung, Christopher, Andrews, Colin, Masters, Colin L

Journal:

Year:

1998

Language:

english

File:

PDF, 260 KB

english, 1998

20

Intraneuronal advanced glycation endproducts in presenilin-1 Alzheimer??s disease

M??nch, Gerald, Shepherd, Claire E., McCann, Heather, Brooks, William S., Kwok, John B. J., Arendt, Thomas, Hallupp, Marianne, Schofield, Peter R., Martins, Ralph N., Halliday, Glenda M.

Journal:

Year:

2002

Language:

english

File:

PDF, 138 KB

english, 2002

21

Genetic Polymorphisms in Sigma-1 Receptor and Apolipoprotein E Interact to Influence the Severity of Alzheimers Disease

Huang, Yue, Zheng, Lan, Halliday, Glenda, Dobson-Stone, Carol, Wang, Ying, Tang, Hui-Dong, Cao, Li, Deng, Yu-Lei, Wang, Gang, Zhang, Yu-Mei, Wang, Jian-Hua, Hallupp, Marianne, Kwok, John, Chen, Sheng-

Journal:

Current Alzheimer Research

Year:

2011

Language:

english

File:

PDF, 96 KB

english, 2011

22

No association of spastic paraparesis genes in PSEN1 Alzheimer??s disease with spastic paraparesis

Karlstrom, Helena, Kwok, John B.J., Gregory, Gillian C., Hallupp, Marianne, Brooks, William S., Schofield, Peter R.

Journal:

Year:

2007

Language:

english

File:

PDF, 124 KB

english, 2007

23

Structure analysis of purified histone H5 and of H5 in nuclei by limited proteolysis

Hallupp, M, Buck, F, Strätling, W H

Journal:

Biochemical Journal

Year:

1992

Language:

english

File:

PDF, 1.99 MB

english, 1992

24

Retiring the term FTDP-17 as MAPT mutations are genetic forms of sporadic frontotemporal tauopathies

Forrest, Shelley L, Kril, Jillian J, Stevens, Claire H, Kwok, John B, Hallupp, Marianne, Kim, Woojin S, Huang, Yue, McGinley, Ciara V, Werka, Hellen, Kiernan, Matthew C, Götz, Jürgen, Spillantini, Mar

Journal:

Year:

2017

Language:

english

File:

PDF, 597 KB

english, 2017

25

Effect of Fluvoxamine on Amyloid-β Peptide Generation and Memory

Kim, Woojin Scott, Fu, Yuhong, Dobson-Stone, Carol, Hsiao, Jen-Hsiang T., Shang, Kani, Hallupp, Marianne, Schofield, Peter R., Garner, Brett, Karl, Tim, Kwok, John B.J.

Journal:

Journal of Alzheimer's Disease

Year:

2018

Language:

english

File:

PDF, 333 KB

english, 2018

26

C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients

Dobson-Stone, Carol, Hallupp, Marianne, Loy, Clement T., Thompson, Elizabeth M., Haan, Eric, Sue, Carolyn M., Panegyres, Peter K., Razquin, Cristina, Seijo-Martínez, Manuel, Rene, Ramon, Gascon, Jordi

Journal:

Year:

2013

Language:

english

File:

PDF, 204 KB

english, 2013

27

Role of the Long Non-Coding RNA MAPT-AS1 in Regulation of Microtubule Associated Protein Tau (MAPT) Expression in Parkinson's Disease

Coupland, Kirsten G., Kim, Woojin S., Halliday, Glenda M., Hallupp, Marianne, Dobson-Stone, Carol, Kwok, John B. J., Lewis, Patrick

Journal:

Year:

2016

Language:

english

File:

PDF, 764 KB

english, 2016

28

Are mutations in MAPT associated with GGT type III?

Forrest, S. L., Halliday, G. M., Shepherd, C. E., Kwok, J. B., Hallupp, M., Kril, J. J.

Journal:

Neuropathology and Applied Neurobiology

Year:

2019

Language:

english

File:

PDF, 464 KB

english, 2019

29

Are mutations in MAPT associated with GGT type III?

Forrest, S. L., Halliday, G. M., Shepherd, C. E., Kwok, J. B., Hallupp, M., Kril, J. J.

Journal:

Neuropathology and Applied Neurobiology

Year:

2019

File:

PDF, 464 KB

2019

30

Reply: CYLD variants in frontotemporal dementia associated with severe memory impairment in a Portuguese cohort

Oyston, Lisa J, Chatterton, Zac, Hallupp, Marianne, Rajan, Neil, Kwok, John B, Dobson-Stone, Carol

Journal:

Year:

2020

File:

PDF, 208 KB

2020