Jenn Fifita

Ms, Dr

  • 1171 Citations
  • 14 h-Index
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  • 27 Similar Profiles
Amyotrophic Lateral Sclerosis Medicine & Life Sciences
Mutation Medicine & Life Sciences
Genes Medicine & Life Sciences
Zebrafish Medicine & Life Sciences
Neurodegenerative Diseases Medicine & Life Sciences
Motor Neurons Medicine & Life Sciences
Exome Medicine & Life Sciences
Amyotrophic lateral sclerosis 1 Medicine & Life Sciences

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Projects 2013 2020

Research Outputs 2011 2020

  • 1171 Citations
  • 14 h-Index
  • 28 Article
  • 2 Meeting abstract
  • 1 Letter
  • 1 Review article

Genetic and immunopathological analysis of CHCHD10 in Australian amyotrophic lateral sclerosis and frontotemporal dementia and transgenic TDP-43 mice

McCann, E. P., Fifita, J. A., Grima, N., Galper, J., Mehta, P., Freckleton, S. E., Zhang, K. Y., Henden, L., Hogan, A. L., Chan Moi Fat, S., Wu, S. S. L., Jagaraj, C. J., Berning, B. A., Williams, K. L., Twine, N. A., Bauer, D., Piguet, O., Hodges, J., Kwok, J. B. J., Halliday, G. M. & 7 othersKiernan, M. C., Atkin, J., Rowe, D. B., Nicholson, G. A., Walker, A. K., Blair, I. P. & Yang, S., 1 Feb 2020, In : Journal of Neurology, Neurosurgery and Psychiatry. 91, 2, p. 162-171 10 p.

Research output: Contribution to journalArticleResearchpeer-review

DNA-Binding Proteins
Transgenic Mice
Spinal Cord

A functional pipeline for the validation of novel amyotrophic lateral sclerosis (ALS) candidate genes

Yang, S., Wu, S., Fifita, J., McCann, E., Fat, S. C. M., Galper, J., Freckleton, S., Zhang, K. Y. & Blair, I. P., 1 Nov 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20, Supplement 1, p. 135 1 p., IVT-01.

Research output: Contribution to journalMeeting abstractResearchpeer-review

Amyotrophic Lateral Sclerosis

The C9orf72 hexanucleotide repeat expansion presents a challenge for testing laboratories and genetic counseling

Crook, A., McEwen, A., Fifita, J. A., Zhang, K., Kwok, J. B., Halliday, G., Blair, I. P. & Rowe, D. B., Jul 2019, In : Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 20, 5-6, p. 310-316 7 p.

Research output: Contribution to journalReview articleResearchpeer-review

Genetic Counseling
Genetic Testing
Genetic Phenomena
Motor Neuron Disease
Amyotrophic Lateral Sclerosis

Accumulation of dysfunctional SOD1 protein in Parkinson’s disease is not associated with mutations in the SOD1 gene

Trist, B. G., Fifita, J. A., Freckleton, S. E., Hare, D. J., Lewis, S. J. G., Halliday, G. M., Blair, I. P. & Double, K. L., Jan 2018, In : Acta Neuropathologica. 135, 1, p. 155–156 2 p.

Research output: Contribution to journalLetterResearchpeer-review

Open Access
Gene Fusion
Neurodegenerative Diseases
Embryonic Structures