OpenURL Connection Search

Select item for more details and to access through your institution.

Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis.
Published in:
2000
By:
- Kwok, John B. J.;
- Li, Qiao-Xin;
- Hallupp, Marianne;
- Whyte, Scott;
- Ames, David;
- Beyreuther, Konrad;
- Masters, Colin L.;
- Schofield, Peter R.;
- Kwok, J B;
- Li, Q X;
- Hallupp, M;
- Whyte, S;
- Ames, D;
- Beyreuther, K;
- Masters, C L;
- Schofield, P R
Publication type:
journal article
TDP-43 proteinopathies: pathological identification of brain regions differentiating clinical phenotypes.
Published in:
2015
By:
- Tan, Rachel H.;
- Kril, Jillian J.;
- Fatima, Manaal;
- McGeachie, Andrew;
- McCann, Heather;
- Shepherd, Claire;
- Forrest, Shelley L.;
- Affleck, Andrew;
- Kwok, John B. J.;
- Hodges, John R.;
- Kiernan, Matthew C.;
- Halliday, Glenda M.
Publication type:
journal article
Is CHCHD10 Pro34Ser pathogenic for frontotemporal dementia and amyotrophic lateral sclerosis?
Published in:
2015
By:
- Dobson-Stone, Carol;
- Shaw, Alex D.;
- Hallupp, Marianne;
- Bartley, Lauren;
- McCann, Heather;
- Brooks, William S.;
- Loy, Clement T.;
- Schofield, Peter R.;
- Mather, Karen A.;
- Kochan, Nicole A.;
- Sachdev, Perminder S.;
- Halliday, Glenda M.;
- Piguet, Olivier;
- Hodges, John R.;
- Kwok, John B. J.;
- Bannwarth, Sylvie;
- Ait-El-Mkadem, Samira;
- Chaussenot, Annabelle;
- Genin, Emmanuelle C.;
- Lacas-Gervais, Sandra
Publication type:
commentary
SNCA Gene, but Not MAPT, Influences Onset Age of Parkinson’s Disease in Chinese and Australians.
Published in:
BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/135674
By:
- Huang, Yue;
- Wang, Gang;
- Rowe, Dominic;
- Wang, Ying;
- Kwok, John B. J.;
- Xiao, Qin;
- Mastaglia, Frank;
- Liu, Jun;
- Chen, Sheng-Di;
- Halliday, Glenda
Publication type:
Article
Genetics of Microstructure of the Corpus Callosum in Older Adults.
Published in:
PLoS ONE, 2014, v. 9, n. 12, p. 1, doi. 10.1371/journal.pone.0113181
By:
- Kanchibhotla, Sri C.;
- Mather, Karen A.;
- Thalamuthu, Anbupalam;
- Zhuang, Lin;
- Schofield, Peter R.;
- Kwok, John B. J.;
- Ames, David;
- Wright, Margaret J.;
- Trollor, Julian N.;
- Wen, Wei;
- Sachdev, Perminder S.
Publication type:
Article
GSK3B and MAPT Polymorphisms Are Associated with Grey Matter and Intracranial Volume in Healthy Individuals.
Published in:
PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0071750
By:
- Dobson-Stone, Carol;
- Polly, Patsie;
- Korgaonkar, Mayuresh S.;
- Williams, Leanne M.;
- Gordon, Evian;
- Schofield, Peter R.;
- Mather, Karen;
- Armstrong, Nicola J.;
- Wen, Wei;
- Sachdev, Perminder S.;
- Kwok, John B. J.
Publication type:
Article
C9ORF72 Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients.
Published in:
PLoS ONE, 2013, v. 8, n. 2, p. 1, doi. 10.1371/journal.pone.0056899
By:
- 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;
- Campdelacreu, Jaume;
- Schmoll, Birgit;
- Volk, Alexander E.;
- Brooks, William S.;
- Schofield, Peter R.;
- Pastor, Pau;
- Kwok, John B. J.
Publication type:
Article
A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome.
Published in:
PLoS ONE, 2012, v. 7, n. 10, p. 1, doi. 10.1371/journal.pone.0047457
By:
- Porter, Melanie A.;
- Dobson-Stone, Carol;
- Kwok, John B. J.;
- Schofield, Peter R.;
- Beckett, William;
- Tassabehji, May
Publication type:
Article
Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.
Published in:
2008
By:
- Luty, Agnes A.;
- Kwok, John B. J.;
- Thompson, Elizabeth M.;
- Blumbergs, Peter;
- Brooks, William S.;
- Loy, Clement T.;
- Dobson-Stone, Carol;
- Panegyres, Peter K.;
- Hecker, Jane;
- Nicholson, Garth A.;
- Halliday, Glenda M.;
- Schofield, Peter R.
Publication type:
journal article
Are mutations in MAPT associated with GGT type III?
Published in:
Neuropathology & Applied Neurobiology, 2020, v. 46, n. 4, p. 406, doi. 10.1111/nan.12583
By:
- Forrest, S. L.;
- Halliday, G. M.;
- Shepherd, C. E.;
- Kwok, J. B.;
- Hallupp, M.;
- Kril, J. J.
Publication type:
Article
Mutations in progranulin explain atypical phenotypes with variants in MAPT.
Published in:
Brain: A Journal of Neurology, 2006, v. 129, n. 11, p. 3124, doi. 10.1093/brain/awl289
By:
- Stuart M. Pickering-Brown;
- Matt Baker;
- Jenny Gass;
- Bradley F. Boeve;
- Clement T. Loy;
- William S. Brooks;
- Ian R. A. Mackenzie;
- Ralph N. Martins;
- John B. J. Kwok;
- Glenda M. Halliday;
- Jillian Kril;
- Peter R. Schofield;
- David M. A. Mann;
- Mike Hutton
Publication type:
Article
Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.
Published in:
2003
By:
- Brooks WS;
- Kwok JBJ;
- Kril JJ;
- Broe GA;
- Blumbergs PC;
- Tannenberg AE;
- Lamont PJ;
- Hedges P;
- Schofield PR;
- Brooks, William S;
- Kwok, John B J;
- Kril, Jillian J;
- Broe, G Anthony;
- Blumbergs, Peter C;
- Tannenberg, Anthony E;
- Lamont, Phillipa J;
- Hedges, Philippa;
- Schofield, Peter R
Publication type:
journal article
Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.
Published in:
2000
By:
- Stanford, P M;
- Halliday, G M;
- Brooks, W S;
- Kwok, J B;
- Storey, C E;
- Creasey, H;
- Morris, J G;
- Fulham, M J;
- Schofield, P R
Publication type:
journal article
Reply to García-Gorostiaga, et al.
Published in:
Annals of Neurology, 2009, v. 65, n. 6, p. 761, doi. 10.1002/ana.21718
By:
- Loy, Clement T.;
- Schofield, Peter R.;
- Kwok, John B. J.
Publication type:
Article
Glycogen synthase kinase-3beta and tau genes interact in Alzheimer's disease.
Published in:
2008
By:
- Kwok JB;
- Loy CT;
- Hamilton G;
- Lau E;
- Hallupp M;
- Williams J;
- Owen MJ;
- Broe GA;
- Tang N;
- Lam L;
- Powell JF;
- Lovestone S;
- Schofield PR;
- Kwok, John B J;
- Loy, Clement T;
- Hamilton, Gillian;
- Lau, Edmond;
- Hallupp, Marianne;
- Williams, Julie;
- Owen, Michael J
Publication type:
journal article
Glycogen synthase kinase-3β and tau genes interact in Alzheimer's disease.
Published in:
Annals of Neurology, 2008, v. 64, n. 4, p. 446, doi. 10.1002/ana.21476
By:
- Kwok, John B. J.;
- Loy, Clement T.;
- Hamilton, Gillian;
- Lau, Edmond;
- Hallupp, Marianne;
- Williams, Julie;
- Owen, Michael J.;
- Broe, G. Anthony;
- Tang, Nelson;
- Lam, Linda;
- Powell, John F.;
- Lovestone, Simon;
- Schofield, Peter R.
Publication type:
Article
GSK3B polymorphisms alter transcription and splicing in Parkinson's disease.
Published in:
Annals of Neurology, 2005, v. 58, n. 6, p. 829
By:
- 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
Publication type:
Article
Tau haplotypes regulate transcription and are associated with Parkinson's disease.
Published in:
Annals of Neurology, 2004, v. 55, n. 3, p. 329
By:
- 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
Publication type:
Article
Srp20 regulates TrkB pre-mRNA splicing to generate TrkB-Shc transcripts with implications for Alzheimer's disease.
Published in:
Journal of Neurochemistry, 2012, v. 123, n. 1, p. 159, doi. 10.1111/j.1471-4159.2012.07873.x
By:
- Wong, Jenny;
- Garner, Brett;
- Halliday, Glenda M.;
- Kwok, John B. J.
Publication type:
Article
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis.
Published in:
Scientific Reports, 2020, v. 10, n. 1, p. 1, doi. 10.1038/s41598-020-68848-9
By:
- Gao, Yixin;
- Wang, Ting;
- Yu, Xinghao;
- International FTD-Genomics Consortium (IFGC);
- Ferrari, Raffaele;
- Hernandez, Dena G.;
- Nalls, Michael A.;
- Rohrer, Jonathan D.;
- Ramasamy, Adaikalavan;
- Kwok, John B. J.;
- Dobson-Stone, Carol;
- Brooks, William S.;
- Schofield, Peter R.;
- Halliday, Glenda M.;
- Hodges, John R.;
- Piguet, Olivier;
- Bartley, Lauren;
- Thompson, Elizabeth;
- Haan, Eric;
- Hernández, Isabel
Publication type:
Article
Role of the Long Non-Coding RNA MAPT-AS1 in Regulation of Microtubule Associated Protein Tau (MAPT) Expression in Parkinson's Disease.
Published in:
PLoS ONE, 2016, v. 11, n. 6, p. 1, doi. 10.1371/journal.pone.0157924
By:
- Coupland, Kirsten G.;
- Kim, Woojin S.;
- Halliday, Glenda M.;
- Hallupp, Marianne;
- Dobson-Stone, Carol;
- Kwok, John B. J.
Publication type:
Article
Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele.
Published in:
Molecular Psychiatry, 2006, v. 11, n. 4, p. 372, doi. 10.1038/sj.mp.4001784
By:
- Blair, I. P.;
- Chetcuti, A. F.;
- Badenhop, R. F.;
- Scimone, A.;
- Moses, M. J.;
- Adams, L. J.;
- Craddock, N.;
- Green, E.;
- Kirov, G.;
- Owen, M. J.;
- Kwok, J. B. J.;
- Donald, J. A.;
- Mitchell, P. B.;
- Schofield, P. R.
Publication type:
Article
Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB).
Published in:
Human Molecular Genetics, 2002, v. 11, n. 7, p. 853, doi. 10.1093/hmg/11.7.853
By:
- Rees, Mark I.;
- Lewis, Trevor M.;
- Kwok, John B. J.;
- Mortier, Geert R.;
- Govaert, Paul;
- Snell, Russell G.;
- Schofield, Peter R.;
- Owen, Michael J.
Publication type:
Article
Variable phenotype of Alzheimer's disease with spastic paraparesis.
Published in:
2001
By:
- Smith, Margaret J.;
- Kwok, John B.J.;
- McLean, Catriona A.;
- Kril, Jillian J.;
- Broe, G. Anthony;
- Nicholson, Garth A.;
- Cappai, Roberto;
- Hallupp, Marianne;
- Cotton, Richard G.H.;
- Masters, Colin L.;
- Schofield, Peter R.;
- Brooks, William S.;
- Smith, M J;
- Kwok, J B;
- McLean, C A;
- Kril, J J;
- Broe, G A;
- Nicholson, G A;
- Cappai, R;
- Hallupp, M
Publication type:
journal article
Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.
Published in:
Annals of Neurology, 1997, v. 42, n. 5, p. 794, doi. 10.1002/ana.410420516
By:
- Baker, Matt;
- Kwok, John B. J.;
- Kucera, Steve;
- Crook, Richard;
- Farrer, Matthew;
- Houlden, Henry;
- Isaacs, Adrian;
- Lincoln, Sarah;
- Onstead, Luisa;
- Hardy, John;
- Wittenberg, Leonie;
- Dodd, Peter;
- Webb, Sonja;
- Hayward, Nick;
- Tannenberg, Tony;
- Andreadis, Athena;
- Hallupp, Marianne;
- Schofield, Peter;
- Dark, Frances;
- Hutton, Michael
Publication type:
Article
Variable phenotype of Alzheimer’s disease with spastic paraparesis.
Published in:
Journal of Neurochemistry, 2008, v. 104, n. 3, p. 573, doi. 10.1111/j.1471-4159.2007.05038.x
By:
- Karlstrom, Helena;
- Brooks, William S.;
- Kwok, John B. J.;
- Broe, G. Anthony;
- Kril, Jillian J.;
- McCann, Heather;
- Halliday, Glenda M.;
- Schofield, Peter R.
Publication type:
Article

Found: 26

Novel Leu723Pro amyloid precursor protein mutation increases amyloid beta42(43) peptide levels and induces apoptosis.

TDP-43 proteinopathies: pathological identification of brain regions differentiating clinical phenotypes.

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

SNCA Gene, but Not MAPT, Influences Onset Age of Parkinson’s Disease in Chinese and Australians.

Genetics of Microstructure of the Corpus Callosum in Older Adults.

<i>GSK3B</i> and <i>MAPT</i> Polymorphisms Are Associated with Grey Matter and Intracranial Volume in Healthy Individuals.

<i>C9ORF72</i> Repeat Expansion in Australian and Spanish Frontotemporal Dementia Patients.

A Role for Transcription Factor GTF2IRD2 in Executive Function in Williams-Beuren Syndrome.

Pedigree with frontotemporal lobar degeneration--motor neuron disease and Tar DNA binding protein-43 positive neuropathology: genetic linkage to chromosome 9.

Are mutations in MAPT associated with GGT type III?

Mutations in progranulin explain atypical phenotypes with variants in MAPT.

Alzheimer's disease with spastic paraparesis and 'cotton wool' plaques: two pedigrees with PS-1 exon 9 deletions.

Progressive supranuclear palsy pathology caused by a novel silent mutation in exon 10 of the tau gene: expansion of the disease phenotype caused by tau gene mutations.

Reply to García-Gorostiaga, et al.

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

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

GSK3B polymorphisms alter transcription and splicing in Parkinson's disease.

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

Srp20 regulates TrkB pre-mRNA splicing to generate TrkB-Shc transcripts with implications for Alzheimer's disease.

Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis.

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

Positional cloning, association analysis and expression studies provide convergent evidence that the cadherin gene FAT contains a bipolar disorder susceptibility allele.

Hyperekplexia associated with compound heterozygote mutations in the β-subunit of the human inhibitory glycine receptor (GLRB).

Variable phenotype of Alzheimer's disease with spastic paraparesis.

Localization of frontotemporal dementia with parkinsonism in an Australian kindred to chromosome 17q21-22.

Variable phenotype of Alzheimer’s disease with spastic paraparesis.