Publications: Theunissen, Frances

Journal Article

Theunissen, F., Anderton, R.S., Mastaglia, F.L., James, I., Bedlack, R. and Akkari, P.A. (2022) Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset. Scientific Reports, 12 (1). Art. 14739.

Theunissen, F., Flynn, L.L., Anderton, R.S. and Akkari, P.A. (2022) Short structural variants as informative genetic markers for ALS disease risk and progression. BMC Medicine, 20 (1). Art. 11.

Roberts, B., Theunissen, F., Mastaglia, F.L., Akkari, P.A. and Flynn, L.L. (2022) Synucleinopathy in amyotrophic lateral sclerosis: A potential avenue for antisense therapeutics? International Journal of Molecular Sciences, 23 (16). Article 9364.

Theunissen, F., West, P.K., Brennan, S., Petrović, B., Hooshmand, K., Akkari, P.A., Keon, M. and Guennewig, B. (2021) New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis. Translational Neurodegeneration, 10 (1). Art. 46.

Theunissen, F., Anderton, R.S., Mastaglia, F.L., Flynn, L.L., Winter, S.J., James, I., Bedlack, R., Hodgetts, S., Fletcher, S., Wilton, S.D., Laing, N.G., MacShane, M., Needham, M., Saunders, A., MacKay-Sim, A., Melamed, Z., Ravits, J., Cleveland, D.W. and Akkari, P.A. (2021) Novel STMN2 variant linked to amyotrophic lateral sclerosis risk and clinical phenotype. Frontiers in Aging Neuroscience, 13 . Art. 658226.

Bakeberg, M.C., Hoes, M.E., Gorecki, A.M., Theunissen, F., Pfaff, A.L.ORCID: 0000-0002-2231-9800, Kenna, J.E., Plunkett, K., Kõks, S., Akkari, P.A., Mastaglia, F.L. and Anderton, R.S. (2021) The TOMM40 ‘523’ polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson’s disease. Scientific Reports, 11 . Article 6363.

Pytte, J., Anderton, R.S., Flynn, L.L., Theunissen, F., Jiang, L., Pitout, I., James, I., Mastaglia, F.L., Saunders, A.M., Bedlack, R., Siddique, T., Siddique, N. and Akkari, P.A. (2020) Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis. Neurology Genetics, 6 (2). Art. e406.

Pytte, J., Flynn, L.L., Anderton, R.S., Mastaglia, F.L., Theunissen, F., James, I., Pfaff, A.ORCID: 0000-0002-2231-9800, Kõks, S., Saunders, A.M., Bedlack, R., Burns, D.K., Lutz, M.W., Siddique, N., Siddique, T., Roses, A.D. and Akkari, P.A. (2020) Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort. Neurology Genetics, 6 (4). e470.

Gorecki, A.M., Bakeberg, M.C., Theunissen, F., Kenna, J.E., Hoes, M.E., Pfaff, A.L.ORCID: 0000-0002-2231-9800, Akkari, P.A., Dunlop, S.A., Kõks, S., Mastaglia, F.L. and Anderton, R.S. (2020) Single nucleotide polymorphisms associated with gut homeostasis influence risk and age-at-onset of Parkinson's disease. Frontiers in Aging Neuroscience, 12 . Article 603849.

Theunissen, F., Flynn, L.L., Anderton, R.S., Mastaglia, F., Pytte, J., Jiang, L., Hodgetts, S., Burns, D.K., Saunders, A., Fletcher, S., Wilton, S.D. and Akkari, P.A. (2020) Structural variants may be a source of missing heritability in sALS. Frontiers in Neuroscience, 14 .