Evidence for polygenic and oligogenic basis of Australian sporadic amyotrophic lateral sclerosis
McCann, Emily P, Henden, Lyndal, Fifita, Jennifer A, Zhang, Katharine Y, Grima, Natalie, Bauer, Denis C, Chan Moi Fat, Sandrine, Twine, Natalie A, Pamphlett, Roger, Kiernan, Matthew C, Rowe, Dominic B, Williams, Kelly L, Blair, Ian P
Published in Journal of medical genetics (01.02.2021)
Published in Journal of medical genetics (01.02.2021)
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ERBB4 Mutations that Disrupt the Neuregulin-ErbB4 Pathway Cause Amyotrophic Lateral Sclerosis Type 19
Takahashi, Yuji, Fukuda, Yoko, Yoshimura, Jun, Toyoda, Atsushi, Kurppa, Kari, Moritoyo, Hiroyoko, Belzil, Veronique V., Dion, Patrick A., Higasa, Koichiro, Doi, Koichiro, Ishiura, Hiroyuki, Mitsui, Jun, Date, Hidetoshi, Ahsan, Budrul, Matsukawa, Takashi, Ichikawa, Yaeko, Moritoyo, Takashi, Ikoma, Mayumi, Hashimoto, Tsukasa, Kimura, Fumiharu, Murayama, Shigeo, Onodera, Osamu, Nishizawa, Masatoyo, Yoshida, Mari, Atsuta, Naoki, Sobue, Gen, Fifita, Jennifer A., Williams, Kelly L., Blair, Ian P., Nicholson, Garth A., Gonzalez-Perez, Paloma, Brown, Robert H., Nomoto, Masahiro, Elenius, Klaus, Rouleau, Guy A., Fujiyama, Asao, Morishita, Shinichi, Goto, Jun, Tsuji, Shoji
Published in American journal of human genetics (07.11.2013)
Published in American journal of human genetics (07.11.2013)
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Altered SOD1 maturation and post-translational modification in amyotrophic lateral sclerosis spinal cord
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, Van Malderen, Stijn, Falkenberg, Gerald, Paterson, David J, Smith, Bradley, Troakes, Claire, Vance, Caroline, Shaw, Christopher E, Al-Sarraj, Safa, Cordwell, Stuart, Halliday, Glenda, Ortega, Richard, Double, Kay L
Published in Brain (London, England : 1878) (14.09.2022)
Published in Brain (London, England : 1878) (14.09.2022)
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Defects in optineurin- and myosin VI-mediated cellular trafficking in amyotrophic lateral sclerosis
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
Published in Human molecular genetics (01.07.2015)
Published in Human molecular genetics (01.07.2015)
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Co-deposition of SOD1, TDP-43 and p62 proteinopathies in ALS: evidence for multifaceted pathways underlying neurodegeneration
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
Published in Acta neuropathologica communications (25.08.2022)
Published in Acta neuropathologica communications (25.08.2022)
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Cyclin F: A component of an E3 ubiquitin ligase complex with roles in neurodegeneration and cancer
Galper, Jasmin, Rayner, Stephanie L., Hogan, Alison L., Fifita, Jennifer A., Lee, Albert, Chung, Roger S., Blair, Ian P., Yang, Shu
Published in The international journal of biochemistry & cell biology (01.08.2017)
Published in The international journal of biochemistry & cell biology (01.08.2017)
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Expression of ALS/FTD-linked mutant CCNF in zebrafish leads to increased cell death in the spinal cord and an aberrant motor phenotype
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
Published in Human molecular genetics (15.07.2017)
Published in Human molecular genetics (15.07.2017)
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Genetic analysis of GLT8D1 and ARPP21 in Australian familial and sporadic amyotrophic lateral sclerosis
Chan Moi Fat, Sandrine, McCann, Emily P., Williams, Kelly L., Henden, Lyndal, Twine, Natalie A., Bauer, Denis C., Pamphlett, Roger, Kiernan, Matthew C., Rowe, Dominic B., Nicholson, Garth A., Fifita, Jennifer A., Blair, Ian P.
Published in Neurobiology of aging (01.05.2021)
Published in Neurobiology of aging (01.05.2021)
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Accumulation of dysfunctional SOD1 protein in Parkinson’s disease is not associated with mutations in the SOD1 gene
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.
Published in Acta neuropathologica (2018)
Published in Acta neuropathologica (2018)
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Genetic Analysis of Tryptophan Metabolism Genes in Sporadic Amyotrophic Lateral Sclerosis
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
Published in Frontiers in immunology (14.06.2021)
Published in Frontiers in immunology (14.06.2021)
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The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling
Crook, Ashley, McEwen, Alison, Fifita, Jennifer A., Zhang, Katharine, Kwok, John B., Halliday, Glenda, Blair, Ian P., Rowe, Dominic B.
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2019)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (03.07.2019)
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Mutant human FUS Is ubiquitously mislocalized and generates persistent stress granules in primary cultured transgenic zebrafish cells
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
Published in PloS one (09.06.2014)
Published in PloS one (09.06.2014)
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Mutation analysis and immunopathological studies of PFN1 in familial and sporadic amyotrophic lateral sclerosis
Yang, Shu, Fifita, Jennifer A, Williams, Kelly L, Warraich, Sadaf T, Pamphlett, Roger, Nicholson, Garth A, Blair, Ian P
Published in Neurobiology of aging (01.09.2013)
Published in Neurobiology of aging (01.09.2013)
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Splicing factor proline and glutamine rich intron retention, reduced expression and aggregate formation are pathological features of amyotrophic lateral sclerosis
Hogan, Alison L., Grima, Natalie, Fifita, Jennifer A., McCann, Emily P., Heng, Benjamin, Fat, Sandrine Chan Moi, Wu, Sharlynn, Maharjan, Ram, Cain, Amy K., Henden, Lyndal, Rayner, Stephanie, Tarr, Ingrid, Zhang, Katharine Y., Zhao, Qiongyi, Zhang, Zong‐Hong, Wright, Amanda, Lee, Albert, Morsch, Marco, Yang, Shu, Williams, Kelly L., Blair, Ian P.
Published in Neuropathology and applied neurobiology (01.12.2021)
Published in Neuropathology and applied neurobiology (01.12.2021)
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A novel amyotrophic lateral sclerosis mutation in OPTN induces ER stress and Golgi fragmentation in vitro
Fifita, Jennifer A., Williams, Kelly L., Sundaramoorthy, Vinod, Mccann, Emily P., Nicholson, Garth A., Atkin, Julie D., Blair, Ian P.
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.02.2017)
Published in Amyotrophic lateral sclerosis and frontotemporal degeneration (01.02.2017)
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Novel TBK1 truncating mutation in a familial amyotrophic lateral sclerosis patient of Chinese origin
Williams, Kelly L, McCann, Emily P, Fifita, Jennifer A, Zhang, Katharine, Duncan, Emma L, Leo, Paul J, Marshall, Mhairi, Rowe, Dominic B, Nicholson, Garth A, Blair, Ian P
Published in Neurobiology of aging (01.12.2015)
Published in Neurobiology of aging (01.12.2015)
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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
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
Published in Cells (Basel, Switzerland) (02.09.2020)
Published in Cells (Basel, Switzerland) (02.09.2020)
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Unbiased Label-Free Quantitative Proteomics of Cells Expressing Amyotrophic Lateral Sclerosis (ALS) Mutations in CCNF Reveals Activation of the Apoptosis Pathway: A Workflow to Screen Pathogenic Gene Mutations
Cheng, Flora, De Luca, Alana, Hogan, Alison L, Rayner, Stephanie L, Davidson, Jennilee M, Watchon, Maxinne, Stevens, Claire H, Muñoz, Sonia Sanz, Ooi, Lezanne, Yerbury, Justin J, Don, Emily K, Fifita, Jennifer A, Villalva, Maria D, Suddull, Hannah, Chapman, Tyler R, Hedl, Thomas J, Walker, Adam K, Yang, Shu, Morsch, Marco, Shi, Bingyang, Blair, Ian P, Laird, Angela S, Chung, Roger S, Lee, Albert
Published in Frontiers in molecular neuroscience (27.04.2021)
Published in Frontiers in molecular neuroscience (27.04.2021)
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Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice
McCann, Emily P, Fifita, Jennifer A, Grima, Natalie, Galper, Jasmin, Mehta, Prachi, Freckleton, Sarah E, Zhang, Katharine Y, Henden, Lyndal, Hogan, Alison L, Chan Moi Fat, Sandrine, Wu, Sharlynn SL, Jagaraj, Cyril J, Berning, Britt A, Williams, Kelly Louise, Twine, Natalie A, Bauer, Denis, Piguet, Olivier, Hodges, John, Kwok, John B J, Halliday, Glenda M, Kiernan, Matthew C, Atkin, Julie, Rowe, Dominic B, Nicholson, Garth A, Walker, Adam K, Blair, Ian P, Yang, Shu
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2020)
Published in Journal of neurology, neurosurgery and psychiatry (01.02.2020)
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