Investigation of short structural variants in SCAF4, SQSTM1, and VCP as potential genetic modifiersfor amyotrophic lateral sclerosis

Julia Pytte

doi:10.26182/g2fs-z538

Investigation of short structural variants in SCAF4, SQSTM1, and VCP as potential genetic modifiersfor amyotrophic lateral sclerosis

Julia Pytte

School of Human Sciences

Research output: Thesis › Doctoral Thesis

Original language	English
Qualification	Doctor of Philosophy
Awarding Institution	The University of Western Australia
Supervisors/Advisors	Hodgetts, Stuart, Supervisor Akkari, Anthony, Supervisor Flynn, Loren, Supervisor Rodger, Jennifer, Supervisor
Thesis sponsors	Australian Government Research Training Program
Award date	8 Dec 2023
DOIs	https://doi.org/10.26182/g2fs-z538
Publication status	Unpublished - 2023

Embargo information

Embargoed from 08/12/2023 to 01/12/2025. Will become publicly available on 01/12/2025.

Access to Document

10.26182/g2fs-z538

Embargoed Document

THESIS - DOCTOR OF PHILOSOPHY - PYTTE Julia Katherine - 2023
18 MB
Embargo ends: 1/12/25

4 Article

Bridging the gap: Short structural variants in the genetics of anorexia nervosa
Berthold, N., Pytte, J., Bulik, C. M., Tschochner, M., Medland, S. E. & Akkari, P. A., Jun 2022, In: International Journal of Eating Disorders. 55, 6, p. 747-753 7 p.
Research output: Contribution to journal › Article › peer-review

Open Access
3 Citations (Scopus)
Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis
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. & Akkari, P. A., 2020, In: Neurology: Genetics. 6, 2, e406.
Research output: Contribution to journal › Article › peer-review

Open Access
10 Citations (Scopus)
Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort
Pytte, J., Flynn, L. L., Anderton, R. S., Mastaglia, F. L., Theunissen, F., James, I., Pfaff, A., Koks, S., Saunders, A. M., Bedlack, R., Burns, D. K., Lutz, M. W., Siddique, N., Siddique, T., Roses, A. D. & Anthony Akkari, P., 2020, In: Neurology: Genetics. 6, 4, e470.
Research output: Contribution to journal › Article › peer-review

Open Access
9 Citations (Web of Science)

Cite this

@phdthesis{78361f2508374d19a8675e6a8db8c0a2,

title = "Investigation of short structural variants in SCAF4, SQSTM1, and VCP as potential genetic modifiersfor amyotrophic lateral sclerosis",

keywords = "Amyotrophic Lateral Sclerosis, Short structural variants, Genetic modifiers, Patient heterogeneity, Association studies, Inclusion Body Myositis, SCAF4, SQSTM1, VCP",

author = "Julia Pytte",

year = "2023",

doi = "10.26182/g2fs-z538",

language = "English",

school = "The University of Western Australia",

}

TY - BOOK

T1 - Investigation of short structural variants in SCAF4, SQSTM1, and VCP as potential genetic modifiersfor amyotrophic lateral sclerosis

AU - Pytte, Julia

PY - 2023

Y1 - 2023

KW - Amyotrophic Lateral Sclerosis

KW - Short structural variants

KW - Genetic modifiers

KW - Patient heterogeneity

KW - Association studies

KW - Inclusion Body Myositis

KW - SCAF4

KW - SQSTM1

KW - VCP

U2 - 10.26182/g2fs-z538

DO - 10.26182/g2fs-z538

M3 - Doctoral Thesis

ER -

Investigation of short structural variants in SCAF4, SQSTM1, and VCP as potential genetic modifiersfor amyotrophic lateral sclerosis

Embargo information

Access to Document

Embargoed Document

Research output

Bridging the gap: Short structural variants in the genetics of anorexia nervosa

Association of a structural variant within the SQSTM1 gene with amyotrophic lateral sclerosis

Disease-modifying effects of an SCAF4 structural variant in a predominantly SOD1 ALS cohort

Cite this