The Molecular Link Between TDP-43, Endogenous Retroviruses and Inflammatory Neurodegeneration in Amyotrophic Lateral Sclerosis: a Potential Target for Triumeq, an Antiretroviral Th...

por Dubowsky, Megan, Theunissen, Frances, Carr, Jillian M., Rogers, Mary-Louise
Publicado 2023

Short structural variants as informative genetic markers for ALS disease risk and progression

por Theunissen, Frances, Flynn, Loren L., Anderton, Ryan S., Akkari, P. Anthony
Publicado 2022

Synucleinopathy in Amyotrophic Lateral Sclerosis: A Potential Avenue for Antisense Therapeutics?

por Roberts, Bradley, Theunissen, Frances, Mastaglia, Francis L., Akkari, P. Anthony, Flynn, Loren L.
Publicado 2022

Intronic NEFH variant is associated with reduced risk for sporadic ALS and later age of disease onset

por Theunissen, Frances, Anderton, Ryan S., Mastaglia, Frank L., James, Ian, Bedlack, Richard, Akkari, P. Anthony
Publicado 2022

New perspectives on cytoskeletal dysregulation and mitochondrial mislocalization in amyotrophic lateral sclerosis

por Theunissen, Frances, West, Phillip K., Brennan, Samuel, Petrović, Bojan, Hooshmand, Kosar, Akkari, P. Anthony, Keon, Matt, Guennewig, Boris
Publicado 2021

Structural Variants May Be a Source of Missing Heritability in sALS

por Theunissen, Frances, Flynn, Loren L., Anderton, Ryan S., Mastaglia, Frank, Pytte, Julia, Jiang, Leanne, Hodgetts, Stuart, Burns, Daniel K., Saunders, Ann, Fletcher, Sue, Wilton, Steve D., Akkari, Patrick Anthony
Publicado 2020

The TOMM40 ‘523’ polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson’s disease

por Bakeberg, Megan C., Hoes, Madison E., Gorecki, Anastazja M., Theunissen, Frances, Pfaff, Abigail L., Kenna, Jade E., Plunkett, Kai, Kõks, Sulev, Akkari, P. Anthony, Mastaglia, Frank L., Anderton, Ryan S.
Publicado 2021

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

por Pytte, Julia, Anderton, Ryan S., Flynn, Loren L., Theunissen, Frances, Jiang, Leanne, Pitout, Ianthe, James, Ian, Mastaglia, Frank L., Saunders, Ann M., Bedlack, Richard, Siddique, Teepu, Siddique, Nailah, Akkari, P. Anthony
Publicado 2020

Single Nucleotide Polymorphisms Associated With Gut Homeostasis Influence Risk and Age-at-Onset of Parkinson's Disease

por Gorecki, Anastazja M., Bakeberg, Megan C., Theunissen, Frances, Kenna, Jade E., Hoes, Madison E., Pfaff, Abigail L., Akkari, P. Anthony, Dunlop, Sarah A., Kõks, Sulev, Mastaglia, Frank L., Anderton, Ryan S.
Publicado 2020

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

por Pytte, Julia, Flynn, Loren L., Anderton, Ryan S., Mastaglia, Frank L., Theunissen, Frances, James, Ian, Pfaff, Abigail, Koks, Sulev, Saunders, Ann M., Bedlack, Richard, Burns, Daniel K., Lutz, Michael W., Siddique, Nailah, Siddique, Teepu, Roses, Allen D., Akkari, P. Anthony
Publicado 2020

Novel STMN2 Variant Linked to Amyotrophic Lateral Sclerosis Risk and Clinical Phenotype

por Theunissen, Frances, Anderton, Ryan S., Mastaglia, Frank L., Flynn, Loren L., Winter, Samantha J., James, Ian, Bedlack, Richard, Hodgetts, Stuart, Fletcher, Sue, Wilton, Steve D., Laing, Nigel G., MacShane, Mandi, Needham, Merrilee, Saunders, Ann, Mackay-Sim, Alan, Melamed, Ze’ev, Ravits, John, Cleveland, Don W., Akkari, P. Anthony
Publicado 2021