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Association between DNA methylation variability and self-reported exposure to heavy metals.
Published in:
Scientific Reports, 2022, v. 12, n. 1, p. 1, doi. 10.1038/s41598-022-13892-w
By:
- Freydenzon, Anna;
- Nabais, Marta F.;
- Lin, Tian;
- Williams, Kelly L.;
- Wallace, Leanne;
- Henders, Anjali K.;
- Blair, Ian P.;
- Wray, Naomi R.;
- Pamphlett, Roger;
- McRae, Allan F.
Publication type:
Article
Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord.
Published in:
2022
By:
- Trist, Benjamin G;
- Genoud, Sian;
- Roudeau, Stéphane;
- Rookyard, Alexander;
- Abdeen, Amr;
- Cottam, Veronica;
- Hare, Dominic J;
- White, Melanie;
- Altvater, Jens;
- Fifita, Jennifer A;
- Hogan, Alison;
- Grima, Natalie;
- Blair, Ian P;
- Kysenius, Kai;
- Crouch, Peter J;
- Carmona, Asuncion;
- Rufin, Yann;
- Claverol, Stéphane;
- Malderen, Stijn Van;
- Falkenberg, Gerald
Publication type:
journal article
P3-312: Functional consequences of tau haplotype and subhaplotypes in human brains
Published in:
2006
By:
- Loy, Clement T.;
- Kwok, John B.;
- Blair, Ian P.;
- Hallupp, Marianne;
- Todd, Elizabeth;
- Schofield, Peter R.
Publication type:
Abstract
P3-312: Functional consequences of tau haplotype and subhaplotypes in human brains
Published in:
2006
By:
- Loy, Clement T.;
- Kwok, John B.;
- Blair, Ian P.;
- Hallupp, Marianne;
- Todd, Elizabeth;
- Schofield, Peter R.
Publication type:
Abstract
Distinct partitioning of ALS associated TDP-43, FUS and SOD1 mutants into cellular inclusions.
Published in:
Scientific Reports, 2015, p. 13416, doi. 10.1038/srep13416
By:
- Farrawell, Natalie E.;
- Lambert-Smith, Isabella A.;
- Warraich, Sadaf T.;
- Blair, Ian P.;
- Saunders, Darren N.;
- Hatters, Danny M.;
- Yerbury, Justin J.
Publication type:
Article
Meta-analysis of genome-wide DNA methylation identifies shared associations across neurodegenerative disorders.
Published in:
Genome Biology, 2021, v. 22, n. 1, p. 1, doi. 10.1186/s13059-021-02275-5
By:
- Nabais, Marta F.;
- Laws, Simon M.;
- Lin, Tian;
- Vallerga, Costanza L.;
- Armstrong, Nicola J.;
- Blair, Ian P.;
- Kwok, John B.;
- Mather, Karen A.;
- Mellick, George D.;
- Sachdev, Perminder S.;
- Wallace, Leanne;
- Henders, Anjali K.;
- Zwamborn, Ramona A. J.;
- Hop, Paul J.;
- Lunnon, Katie;
- Pishva, Ehsan;
- Roubroeks, Janou A. Y.;
- Soininen, Hilkka;
- Tsolaki, Magda;
- Mecocci, Patrizia
Publication type:
Article
Mutant Human FUS Is Ubiquitously Mislocalized and Generates Persistent Stress Granules in Primary Cultured Transgenic Zebrafish Cells.
Published in:
PLoS ONE, 2014, v. 9, n. 6, p. 1, doi. 10.1371/journal.pone.0090572
By:
- Acosta, Jamie Rae;
- Goldsbury, Claire;
- Winnick, Claire;
- Badrock, Andrew P.;
- Fraser, Stuart T.;
- Laird, Angela S.;
- Hall, Thomas E.;
- Don, Emily K.;
- Fifita, Jennifer A.;
- Blair, Ian P.;
- Nicholson, Garth A.;
- Cole, Nicholas J.
Publication type:
Article
Genetic and Pathological Assessment of hnRNPA1, hnRNPA2/B1, and hnRNPA3 in Familial and Sporadic Amyotrophic Lateral Sclerosis.
Published in:
Neurodegenerative Diseases, 2017, v. 17, n. 6, p. 304, doi. 10.1159/000481258
By:
- Fifita, Jennifer a.;
- Zhang, Katharine Y.;
- Galper, Jasmin;
- Williams, Kelly L.;
- McCann, Emily P.;
- Hogan, alison L.;
- Saunders, Neil;
- Bauer, Denis;
- Tarr, Ingrid S.;
- Pamphlett, Roger;
- Nicholson, Garth a.;
- Rowe, Dominic;
- Yang, Shu;
- Blair, Ian P.
Publication type:
Article
A novel locus for distal motor neuron degeneration maps to chromosome 7q34-q36.
Published in:
Human Genetics, 2007, v. 121, n. 5, p. 559, doi. 10.1007/s00439-007-0348-9
By:
- Gopinath, Sumana;
- Blair, Ian P.;
- Kennerson, Marina L.;
- Durnall, Jennifer C.;
- Nicholson, Garth A.
Publication type:
Article
Exclusion of NFIL3 as the gene causing hereditary sensory neuropathy type I by mutation analysis.
Published in:
Human Genetics, 2000, v. 106, n. 6, p. 594, doi. 10.1007/s004390000306
By:
- Hulme, Dennis J.;
- Blair, Ian P.;
- Dawkins, Jennifer L.;
- Nicholson, Garth A.
Publication type:
Article
Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases.
Published in:
NPJ Genomic Medicine, 2020, v. 5, n. 1, p. 1, doi. 10.1038/s41525-020-00139-8
By:
- Henden, Lyndal;
- Twine, Natalie A.;
- Szul, Piotr;
- McCann, Emily P.;
- Nicholson, Garth A.;
- Rowe, Dominic B.;
- Kiernan, Matthew C.;
- Bauer, Denis C.;
- Blair, Ian P.;
- Williams, Kelly L.
Publication type:
Article
Sensitive Detection of Motor Neuron Disease Derived Exosomal miRNA Using Electrocatalytic Activity of Gold‐Loaded Superparamagnetic Ferric Oxide Nanocubes.
Published in:
ChemElectroChem, 2020, v. 7, n. 16, p. 3459, doi. 10.1002/celc.202000828
By:
- Masud, Mostafa Kamal;
- Mahmudunnabi, Rabbee G.;
- Aziz, Nahian Binte;
- Stevens, Claire H.;
- Do‐Ha, Dzung;
- Yang, Shu;
- Blair, Ian P.;
- Hossain, Md. Shahriar A.;
- Shim, Yoon‐Bo;
- Ooi, Lezanne;
- Yamauchi, Yusuke;
- Shiddiky, Muhammad J. A.
Publication type:
Article
Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration.
Published in:
Acta Neuropathologica Communications, 2022, v. 10, n. 1, p. 1, doi. 10.1186/s40478-022-01421-9
By:
- Trist, Benjamin G.;
- Fifita, Jennifer A.;
- Hogan, Alison;
- Grima, Natalie;
- Smith, Bradley;
- Troakes, Claire;
- Vance, Caroline;
- Shaw, Christopher;
- Al-Sarraj, Safa;
- Blair, Ian P.;
- Double, Kay L.
Publication type:
Article
Monozygotic twins and triplets discordant for amyotrophic lateral sclerosis display differential methylation and gene expression.
Published in:
Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-44765-4
By:
- Tarr, Ingrid S.;
- McCann, Emily P.;
- Benyamin, Beben;
- Peters, Timothy J.;
- Twine, Natalie A.;
- Zhang, Katharine Y.;
- Zhao, Qiongyi;
- Zhang, Zong-Hong;
- Rowe, Dominic B.;
- Nicholson, Garth A.;
- Bauer, Denis;
- Clark, Susan J.;
- Blair, Ian P.;
- Williams, Kelly L.
Publication type:
Article
RNA sequencing of peripheral blood in amyotrophic lateral sclerosis reveals distinct molecular subtypes: Considerations for biomarker discovery.
Published in:
Neuropathology & Applied Neurobiology, 2023, v. 49, n. 6, p. 1, doi. 10.1111/nan.12943
By:
- Grima, Natalie;
- Liu, Sidong;
- Southwood, Dean;
- Henden, Lyndal;
- Smith, Andrew;
- Lee, Albert;
- Rowe, Dominic B.;
- D'Silva, Susan;
- Blair, Ian P.;
- Williams, Kelly L.
Publication type:
Article
Techniques for the identification of genes involved in psychiatric disorders.
Published in:
Australian & New Zealand Journal of Psychiatry, 2005, v. 39, n. 7, p. 542, doi. 10.1080/j.1440-1614.2005.01625.x
By:
- Blair, Ian P.;
- Mitchell, Philip B.;
- Schofield, Peter R.
Publication type:
Article
Protein Disulfide Isomerase Endoplasmic Reticulum Protein 57 (ERp57) is Protective Against ALS-Associated Mutant TDP-43 in Neuronal Cells.
Published in:
NeuroMolecular Medicine, 2024, v. 26, n. 1, p. 1, doi. 10.1007/s12017-024-08787-0
By:
- Parakh, Sonam;
- Perri, Emma R.;
- Vidal, Marta;
- Takalloo, Zeinab;
- Jagaraj, Cyril J.;
- Mehta, Prachi;
- Yang, Shu;
- Thomas, Colleen J.;
- Blair, Ian P.;
- Hong, Yuning;
- Atkin, Julie D.
Publication type:
Article
Pathogenic mutation in the ALS/FTD gene, CCNF, causes elevated Lys48-linked ubiquitylation and defective autophagy.
Published in:
Cellular & Molecular Life Sciences, 2018, v. 75, n. 2, p. 335, doi. 10.1007/s00018-017-2632-8
By:
- Lee, Albert;
- Rayner, Stephanie L.;
- Gwee, Serene S. L.;
- De Luca, Alana;
- Shahheydari, Hamideh;
- Sundaramoorthy, Vinod;
- Ragagnin, Audrey;
- Morsch, Marco;
- Radford, Rowan;
- Galper, Jasmin;
- Freckleton, Sarah;
- Shi, Bingyang;
- Walker, Adam K.;
- Don, Emily K.;
- Cole, Nicholas J.;
- Yang, Shu;
- Williams, Kelly L.;
- Yerbury, Justin J.;
- Blair, Ian P.;
- Atkin, Julie D.
Publication type:
Article
Characterising the Genetic Landscape of Amyotrophic Lateral Sclerosis: A Catalogue and Assessment of Over 1,000 Published Genetic Variants.
Published in:
Journal of Neuromuscular Diseases, 2023, v. 10, n. 6, p. 1127, doi. 10.3233/JND-230148
By:
- McCann, Emily P.;
- Grima, Natalie;
- Fifita, Jennifer A.;
- Chan Moi Fat, Sandrine;
- Lehnert, Klaus;
- Henden, Lyndal;
- Blair, Ian P.;
- Williams, Kelly L.
Publication type:
Article
Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis.
Published in:
Frontiers in Immunology, 2021, v. 12, p. 1, doi. 10.3389/fimmu.2021.701550
By:
- Fifita, Jennifer A.;
- Chan Moi Fat, Sandrine;
- McCann, Emily P.;
- Williams, Kelly L.;
- Twine, Natalie A.;
- Bauer, Denis C.;
- Rowe, Dominic B.;
- Pamphlett, Roger;
- Kiernan, Matthew C.;
- Tan, Vanessa X.;
- Blair, Ian P.;
- Guillemin, Gilles J.
Publication type:
Article
ALS-linked CCNF variant disrupts motor neuron ubiquitin homeostasis.
Published in:
Human Molecular Genetics, 2023, v. 32, n. 14, p. 2386, doi. 10.1093/hmg/ddad063
By:
- Farrawell, Natalie E;
- Bax, Monique;
- McAlary, Luke;
- McKenna, Jessie;
- Maksour, Simon;
- Do-Ha, Dzung;
- Rayner, Stephanie L;
- Blair, Ian P;
- Chung, Roger S;
- Yerbury, Justin J;
- Ooi, Lezanne;
- Saunders, Darren N
Publication type:
Article
Distribution of ubiquilin 2 and TDP‐43 aggregates throughout the CNS in UBQLN2 p.T487I‐linked amyotrophic lateral sclerosis and frontotemporal dementia.
Published in:
Brain Pathology, 2024, v. 34, n. 3, p. 1, doi. 10.1111/bpa.13230
By:
- Nementzik, Laura R.;
- Thumbadoo, Kyrah M.;
- Murray, Helen C.;
- Gordon, David;
- Yang, Shu;
- Blair, Ian P.;
- Turner, Clinton;
- Faull, Richard L. M.;
- Curtis, Maurice A.;
- McLean, Catriona;
- Nicholson, Garth A.;
- Swanson, Molly E. V.;
- Scotter, Emma L.
Publication type:
Article
Sigma nonopioid intracellular receptor 1 mutations cause frontotemporal lobar degeneration-motor neuron disease.
Published in:
Annals of Neurology, 2010, v. 68, n. 5, p. 639, doi. 10.1002/ana.22274
By:
- Luty, Agnes A.;
- Kwok, John B.J.;
- Dobson-Stone, Carol;
- Loy, Clement T.;
- Coupland, Kirsten G.;
- Karlström, Helena;
- Sobow, Tomasz;
- Tchorzewska, Joanna;
- Maruszak, Aleksandra;
- Barcikowska, Maria;
- Panegyres, Peter K.;
- Zekanowski, Cezary;
- Brooks, William S.;
- Williams, Kelly L.;
- Blair, Ian P.;
- Mather, Karen A.;
- Sachdev, Perminder S.;
- Halliday, Glenda M.;
- Schofield, Peter R.
Publication type:
Article
Corrigendum to: Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.
Published in:
Human Molecular Genetics, 2020, v. 29, n. 4, p. 703, doi. 10.1093/hmg/ddz313
By:
- Farg, Manal A;
- Soo, Kai Y;
- Warraich, Sadaf T;
- Sundaramoorthy, Vinod;
- Blair, Ian P;
- Atkin, Julie D
Publication type:
Article
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.
Published in:
Human Molecular Genetics, 2019, v. 28, n. 4, p. 698, doi. 10.1093/hmg/ddy362
By:
- Hogan, Alison L;
- Don, Emily K;
- Rayner, Stephanie L;
- Lee, Albert;
- Laird, Angela S;
- Watchon, Maxinne;
- Winnick, Claire;
- Tarr, Ingrid S;
- Morsch, Marco;
- Fifita, Jennifer A;
- Gwee, Serene S L;
- Formella, Isabel;
- Hortle, Elinor;
- Yuan, Kristy C;
- Molloy, Mark P;
- Williams, Kelly L;
- Nicholson, Garth A;
- Chung, Roger S;
- Blair, Ian P;
- Cole, Nicholas J
Publication type:
Article
ERp57 is protective against mutant SOD1-induced cellular pathology in amyotrophic lateral sclerosis.
Published in:
Human Molecular Genetics, 2018, v. 27, n. 8, p. 1311, doi. 10.1093/hmg/ddy041
By:
- Parakh, Sonam;
- Jagaraj, Cyril J.;
- Vidal, Marta;
- Ragagnin, Audrey M. G.;
- Perri, Emma R.;
- Konopka, Anna;
- Toth, Reka P.;
- Galper, Jasmin;
- Blair, Ian P.;
- Thomas, Colleen J.;
- Walker, Adam K.;
- Shu Yang;
- Spencer, Damian M.;
- Atkin, Julie D.
Publication type:
Article
Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 17, p. 3452, doi. 10.1093/hmg/ddx268
By:
- Sundaramoorthy, Vinod;
- Walker, Adam K.;
- Tan, Vanessa;
- Fifita, Jennifer A.;
- Mccann, Emily P.;
- Williams, Kelly L.;
- Blair, Ian P.;
- Guillemin, Gilles J.;
- Farg, Manal A.;
- Atkin, Julie D.
Publication type:
Article
Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype.
Published in:
Human Molecular Genetics, 2017, v. 26, n. 14, p. 2616, doi. 10.1093/hmg/ddx136
By:
- Hogan, Alison L.;
- Don, Emily K.;
- Rayner, Stephanie L.;
- Lee, Albert;
- Laird, Angela S.;
- Watchon, Maxinne;
- Winnick, Claire;
- Tarr, Ingrid S.;
- Morsch, Marco;
- Fifita, Jennifer A.;
- Gwee, Serene S. L.;
- Formella, Isabel;
- Hortle, Elinor;
- Yuan, Kristy C.;
- Molloy, Mark P.;
- Williams, Kelly L.;
- Nicholson, Garth A.;
- Chung, Roger S.;
- Blair, Ian P.;
- Cole, Nicholas J.
Publication type:
Article
Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis.
Published in:
Human Molecular Genetics, 2015, v. 24, n. 13, p. 3830, doi. 10.1093/hmg/ddv126
By:
- Sundaramoorthy, Vinod;
- Walker, Adam K.;
- Tan, Vanessa;
- Fifita, Jennifer A.;
- Mccann, Emily P.;
- Williams, Kelly L.;
- Blair, Ian P.;
- Guillemin, Gilles J.;
- Farg, Manal A.;
- Atkin, Julie D.
Publication type:
Article
C9ORF72, implicated in amytrophic lateral sclerosis and frontotemporal dementia, regulates endosomal trafficking.
Published in:
Human Molecular Genetics, 2014, v. 23, n. 13, p. 3579, doi. 10.1093/hmg/ddu068
By:
- Farg, Manal A.;
- Sundaramoorthy, Vinod;
- Sultana, Jessica M.;
- Yang, Shu;
- Atkinson, Rachel A.K.;
- Levina, Vita;
- Halloran, Mark A.;
- Gleeson, Paul A.;
- Blair, Ian P.;
- Soo, Kai Y.;
- King, Anna E.;
- Atkin, Julie D.
Publication type:
Article
Ataxin-2 interacts with FUS and intermediate-length polyglutamine expansions enhance FUS-related pathology in amyotrophic lateral sclerosis.
Published in:
Human Molecular Genetics, 2013, v. 22, n. 4, p. 717, doi. 10.1093/hmg/dds479
By:
- Farg, Manal A.;
- Soo, Kai Y.;
- Warraich, Sadaf T.;
- Sundaramoorthy, Vinod;
- Blair, Ian P.;
- Atkin, Julie D.
Publication type:
Article
Accumulation of dysfunctional SOD1 protein in Parkinson's disease is not associated with mutations in the SOD1 gene.
Published in:
2018
By:
- Trist, Benjamin G.;
- Fifita, Jennifer A.;
- Freckleton, Sarah E.;
- Hare, Dominic J.;
- Lewis, Simon J. G.;
- Halliday, Glenda M.;
- Blair, Ian P.;
- Double, Kay L.
Publication type:
Letter
A Simple Differentiation Protocol for Generation of Induced Pluripotent Stem Cell-Derived Basal Forebrain-Like Cholinergic Neurons for Alzheimer's Disease and Frontotemporal Dementia Disease Modeling.
Published in:
Cells (2073-4409), 2020, v. 9, n. 9, p. 2018, doi. 10.3390/cells9092018
By:
- Muñoz, Sonia Sanz;
- Engel, Martin;
- Balez, Rachelle;
- Do-Ha, Dzung;
- Cabral-da-Silva, Mauricio Castro;
- Hernández, Damian;
- Berg, Tracey;
- Fifita, Jennifer A.;
- Grima, Natalie;
- Yang, Shu;
- Blair, Ian P.;
- Nicholson, Garth;
- Cook, Anthony L.;
- Hewitt, Alex W.;
- Pébay, Alice;
- Ooi, Lezanne
Publication type:
Article
Exome sequencing to identify de novo mutations in sporadic ALS trios.
Published in:
Nature Neuroscience, 2013, v. 16, n. 7, p. 851, doi. 10.1038/nn.3412
By:
- Chesi, Alessandra;
- Staahl, Brett T;
- Jovičić, Ana;
- Couthouis, Julien;
- Fasolino, Maria;
- Raphael, Alya R;
- Yamazaki, Tomohiro;
- Elias, Laura;
- Polak, Meraida;
- Kelly, Crystal;
- Williams, Kelly L;
- Fifita, Jennifer A;
- Maragakis, Nicholas J;
- Nicholson, Garth A;
- King, Oliver D;
- Reed, Robin;
- Crabtree, Gerald R;
- Blair, Ian P;
- Glass, Jonathan D;
- Gitler, Aaron D
Publication type:
Article
The E3 Ubiquitin Ligase SCF Cyclin F Promotes Sequestosome-1/p62 Insolubility and Foci Formation and is Dysregulated in ALS and FTD Pathogenesis.
Published in:
Molecular Neurobiology, 2023, v. 60, n. 9, p. 5034, doi. 10.1007/s12035-023-03355-2
By:
- Davidson, Jennilee M.;
- Wu, Sharlynn S. L.;
- Rayner, Stephanie L.;
- Cheng, Flora;
- Duncan, Kimberley;
- Russo, Carlo;
- Newbery, Michelle;
- Ding, Kunjie;
- Scherer, Natalie M.;
- Balez, Rachelle;
- García-Redondo, Alberto;
- Rábano, Alberto;
- Rosa-Fernandes, Livia;
- Ooi, Lezanne;
- Williams, Kelly L.;
- Morsch, Marco;
- Blair, Ian P.;
- Di Ieva, Antonio;
- Yang, Shu;
- Chung, Roger S.
Publication type:
Article
ALS/FTD-associated mutation in cyclin F inhibits ER-Golgi trafficking, inducing ER stress, ERAD and Golgi fragmentation.
Published in:
Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-46802-9
By:
- Ragagnin, Audrey M. G.;
- Sundaramoorthy, Vinod;
- Farzana, Fabiha;
- Gautam, Shashi;
- Saravanabavan, Sayanthooran;
- Takalloo, Zeinab;
- Mehta, Prachi;
- Do-Ha, Dzung;
- Parakh, Sonam;
- Shadfar, Sina;
- Hunter, Julie;
- Vidal, Marta;
- Jagaraj, Cyril J.;
- Brocardo, Mariana;
- Konopka, Anna;
- Yang, Shu;
- Rayner, Stephanie L.;
- Williams, Kelly L.;
- Blair, Ian P.;
- Chung, Roger S.
Publication type:
Article

Found: 36