Centre for Neuromuscular & Neurological Disorders

Research Output 1968 2019

2019

A Common Deep Intronic Mutation Causing Collagen VI-Related Muscular Dystrophy: Validation of Splice-Modulating Approaches In Vitro and Development of a Mouse Model

Bolduc, V., Foley, A. R., Solomon-Degefa, H., Sarathy, A., Donkervoort, S., Hu, Y., Chen, G. S., Nalls, M., Zhou, H., Aguti, S., Cummings, B. B., Lek, M., Tukiainen, T., Marshall, J. L., Regev, O., Marek-Yagel, D., Sarkozy, A., Butterfield, R. J., Jou, C., Jimenez-Mallebrera, C. & 15 othersLi, Y., Cheng, J., Garrett, L., Gartioux, C., Mamchaoui, K., Allamand, V., Gualandi, F., Ferlini, A., Hanssen, E., Wilton, S. D., Lamande, S. R., MacArthur, D. G., Wagener, R., Muntoni, F. & Bonnemann, C. G., 22 Apr 2019, In : Molecular Therapy. 27, 4, p. 304-304 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

Altered gut microbiome in Parkinson's disease and the influence of lipopolysaccharide in a human α-synuclein over-expressing mouse model

Gorecki, A. M., Preskey, L., Bakeberg, M. C., Kenna, J. E., Gildenhuys, C., MacDougall, G., Dunlop, S. A., Mastaglia, F. L., Anthony Akkari, P., Koengten, F. & Anderton, R. S., Aug 2019, In : Frontiers in Neuroscience. 13, JUL, 839.

Research output: Contribution to journalArticle

Open Access
Synucleins
Parkinson Disease
Lipopolysaccharides
Gammaproteobacteria
16S Ribosomal RNA

Altered myogenesis and premature senescence underlie human TRIM32-related myopathy

Servián-Morilla, E., Cabrera-Serrano, M., Rivas-Infante, E., Carvajal, A., Lamont, P. J., Pelayo-Negro, A. L., Ravenscroft, G., Junckerstorff, R., Dyke, J. M., Fletcher, S., Adams, A. M., Mavillard, F., Fernández-García, M. A., Nieto-González, J. L., Laing, N. G. & Paradas, C., 1 Mar 2019, In : Acta Neuropathologica Communications. 7, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Muscle Development
Muscular Diseases
Muscles
Bardet-Biedl Syndrome
Mutation

Anodal transcranial direct current stimulation over the vertex enhances leg motor cortex excitability bilaterally

Ghosh, S., Hathorn, D., Eisenhauer, J., Dixon, J. & Cooper, I. D., 1 May 2019, In : Brain Sciences. 9, 5, 98.

Research output: Contribution to journalArticle

Open Access
Motor Cortex
Leg
Motor Evoked Potentials
Gait
Transcranial Magnetic Stimulation

Antisense-mediated splice intervention to treat human disease: the odyssey continues

Pitout, I., Flynn, L. L., Wilton, S. D. & Fletcher, S., 22 May 2019, In : F1000Research. 8, 710.

Research output: Contribution to journalReview article

Open Access
Oligonucleotides
Nucleic Acids
Pharmaceutical Preparations
Safety
Degradation
17 Citations (Scopus)

Association of Initial Disease-Modifying Therapy With Later Conversion to Secondary Progressive Multiple Sclerosis

MSBase Study Grp, 15 Jan 2019, In : JAMA-JOURNAL OF THE AMERICAN MEDICAL ASSOCIATION. 321, 2, p. 175-187 13 p.

Research output: Contribution to journalArticle

Brain histopathological study and prognosis in MOG antibody-associated demyelinating pseudotumor

Shu, Y., Long, Y., Wang, S., Hu, W., Zhou, J., Xu, H., Chen, C., Ou, Y., Lu, Z., Lau, A. Y., Yu, X., Kermode, A. G. & Qiu, W., 1 Feb 2019, In : Annals of Clinical and Translational Neurology. 6, 2, p. 392-396 5 p.

Research output: Contribution to journalArticle

Open Access
Myelin-Oligodendrocyte Glycoprotein
Antibodies
Brain
Steroids
Biopsy

Breakpoint junction features of seven DMD deletion mutations

Keegan, N. P., Wilton, S. D. & Fletcher, S., 1 Dec 2019, In : Human Genome Variation. 6, 1, 39.

Research output: Contribution to journalArticle

Open Access
Duchenne Muscular Dystrophy
Sequence Deletion
Bioinformatics
Muscle
Exons
1 Citation (Scopus)

Clinical course, treatment responses and outcomes in Chinese paediatric neuromyelitis optica spectrum disorder

Zhou, Y., Zhong, X., Shu, Y., Cui, C., Wang, J., Wang, Y., Li, X., Chen, Z., Peng, L., Kermode, A. & Qiu, W., 1 Feb 2019, In : Multiple Sclerosis and Related Disorders. 28, p. 213-220 8 p.

Research output: Contribution to journalArticle

Neuromyelitis Optica
Pediatrics
Transverse Myelitis
Mycophenolic Acid
Immunoglobulin G

De novo and inherited pathogenic variants in collagen-related osteogenesis imperfecta

Zhytnik, L., Maasalu, K., Binh Ho Duy, Pashenko, A., Khmyzov, S., Reimann, E., Prans, E., Koks, S. & Martson, A., Mar 2019, In : Molecular genetics & genomic medicine. 7, 3, 11 p., 559.

Research output: Contribution to journalArticle

Open Access

Dimethyl fumarate–associated transient bone marrow oedema syndrome

Triplett, J., Vijayan, S., Prince, R. & Kermode, A., May 2019, In : Multiple Sclerosis Journal. 25, 6, p. 876-879

Research output: Contribution to journalArticle

Edema
Bone Marrow
Relapsing-Remitting Multiple Sclerosis
Fumarates
Tenofovir
2 Citations (Scopus)

Diminished membrane recruitment of Akt is instrumental in alcohol-associated osteopenia via the PTEN/Akt/GSK-3 beta/beta-catenin axis

Chen, Y-X., Zhu, D-Y., Gao, J., Xu, Z-L., Tao, S-C., Yin, W-J., Zhang, Y-L., Gao, Y-S. & Zhang, C-Q., Mar 2019, In : FEBS Journal. 286, 6, p. 1101-1119 19 p.

Research output: Contribution to journalArticle

Elevated Serum Homocysteine Levels Have Differential Gender-Specific Associations with Motor and Cognitive States in Parkinson's Disease

Bakeberg, M. C., Jefferson, A., Riley, M., Byrnes, M., Ghosh, S., Mastaglia, F. L., Horne, M. K., McGregor, S., Stell, R., Kenna, J., Walters, S., Hince, D. & Anderton, R. S., 2019, In : Parkinson's Disease. 8 p., 3124295.

Research output: Contribution to journalArticle

Open Access

Exosomes-the enigmatic regulators of bone homeostasis (vol 6, 36, 2018)

Gao, M., Gao, W., Papadimitriou, J. M., Zhang, C., Gao, J. & Zheng, M., 25 Jan 2019, In : Bone Research. 7, 2 p., 3.

Research output: Contribution to journalArticle

Open Access

Genetic predictors of match performance in sub-elite Australian football players: A pilot study

Jacob, Y., Chivers, P. & Anderton, R. S., 20 Jan 2019, In : Journal of Exercise Science and Fitness. 17, 2, p. 41-46 6 p.

Research output: Contribution to journalArticle

Open Access
Football
Genotype

Harding's disease: an important MS mimic

Joshi, S. & Kermode, A., Jul 2019, In : Journal of Neurology Neurosurgery and Psychiatry. 90, E7, 1 p.

Research output: Contribution to journalAbstract/Meeting Abstract

IFITM5 pathogenic variant causes osteogenesis imperfecta V with various phenotype severity in Ukrainian and Vietnamese patients

Zhytnik, L., Maasalu, K., Duy, B. H., Pashenko, A., Khmyzov, S., Reimann, E., Prans, E., Koks, S. & Martson, A., 3 Jun 2019, In : Human genomics. 13, 11 p., 25.

Research output: Contribution to journalArticle

Open Access

Imaging in the diagnosis of idiopathic inflammatory myopathies; indications and utility

Paramalingam, S., Counsel, P., Mastaglia, F. L., Keen, H. & Needham, M., 1 Feb 2019, In : Expert Review of Neurotherapeutics. 19, 2, p. 173-184 12 p.

Research output: Contribution to journalReview article

Myositis
Expert Testimony
Diagnostic Imaging
PubMed
Early Diagnosis

Improvement of gait and balance by non-invasive brain stimulation: its use in rehabilitation

Ghosh, S., 1 Feb 2019, In : Expert Review of Neurotherapeutics. 19, 2, p. 133-144 12 p.

Research output: Contribution to journalReview article

Intraoperative neurophysiology monitoring in scoliosis surgery in children

Nagarajan, L., Ghosh, S., Dillon, D., Palumbo, L., Woodland, P., Thalayasingam, P. & Lethbridge, M., 1 Jan 2019, In : Clinical Neurophysiology Practice. 4, p. 11-17 7 p.

Research output: Contribution to journalArticle

Open Access
Intraoperative Monitoring
Neurophysiology
Scoliosis
Anesthetics
Intravenous Anesthesia

Microglia are both a source and target of extracellular cyclophilin A

Flora, G. K., Anderton, R. S., Meloni, B. P., Guillemin, G. J., Knuckey, N. W., MacDougall, G., Matthews, V. & Boulos, S., 1 Sep 2019, In : Heliyon. 5, 9, e02390.

Research output: Contribution to journalArticle

Open Access
Cyclophilin A
Microglia
Glioblastoma
Chemokines
Oxidative Stress
3 Citations (Scopus)
3 Citations (Scopus)

Myelin oligodendrocyte glycoprotein antibody-associated demyelination: comparison between onset phenotypes

Zhou, Y., Jia, X., Yang, H., Chen, C., Sun, X., Peng, L., Kermode, A. G. & Qiu, W., Jan 2019, In : European Journal of Neurology. 26, 1, p. 175-183 9 p.

Research output: Contribution to journalArticle

Myelin Oligodendrocyte Glycoprotein-IgG Contributes to Oligodendrocytopathy in the Presence of Complement, Distinct from Astrocytopathy Induced by AQP4-IgG

Fang, L., Kang, X., Wang, Z., Wang, S., Wang, J., Zhou, Y., Chen, C., Sun, X., Yan, Y., Kermode, A. G., Peng, L. & Qiu, W., 30 Apr 2019, In : Neuroscience Bulletin.

Research output: Contribution to journalArticle

Myelin-Oligodendrocyte Glycoprotein
Immunoglobulin G
Neuromyelitis Optica
Astrocytes
Cell Death
1 Citation (Scopus)
Open Access
Long Evans Rats
Arginine
Peptides
Rats
Brain

Poly-Arginine Peptides R18 and R18D Improve Functional Outcomes After Endothelin-1-Induced Stroke in the Sprague Dawley Rat

Meloni, B. P., South, S. M., Gill, D. A., Marriott, A. L., Déziel, R. A., Jacques, A., Blacker, D. J. & Knuckey, N. W., 1 May 2019, In : Journal of Neuropathology and Experimental Neurology. 78, 5, p. 426-435 10 p.

Research output: Contribution to journalArticle

Endothelin-1
Sprague Dawley Rats
Arginine
Stroke
Benchmarking
Open Access

Reduction of integrin alpha 4 activity through splice modulating antisense oligonucleotides

Aung-Htut, M. T., Comerford, I., Johnsen, R., Foyle, K., Fletcher, S. & Wilton, S. D., 10 Sep 2019, In : Scientific Reports. 9, 1, 1 p.

Research output: Contribution to journalArticle

Open Access
Integrin alpha Chains
Antisense Oligonucleotides
RNA Precursors
Disease Progression
Exons

Relapsing optic neuritis and meningoencephalitis in a child: Case report of delayed diagnosis of MOG-IgG syndrome

Zhong, X., Chang, Y., Tan, S., Wang, J., Sun, X., Wu, A., Peng, L., Lau, A. Y., Kermode, A. G. & Qiu, W., 9 May 2019, In : BMC Neurology. 19, 1, p. 490-490 94.

Research output: Contribution to journalArticle

Open Access
Myelin-Oligodendrocyte Glycoprotein
Optic Neuritis
Meningoencephalitis
Delayed Diagnosis
Immunoglobulin G
1 Citation (Scopus)

Screening for HIV-Associated Neurocognitive Impairment: Relevance of Psychological Factors and Era of Commencement of Antiretroviral Therapy

Herrmann, S., McKinnon, E., Skinner, M., Duracinsky, M., Chaney, R., Locke, V. & Mastaglia, F., 2019, In : Journal of the Association of Nurses in AIDS Care. 30, 1, p. 42-50 9 p.

Research output: Contribution to journalArticle

HIV
Psychology
Quality of Life
AIDS Dementia Complex
Mood Disorders
1 Citation (Scopus)

Seizure and Myelin Oligodendrocyte Glycoprotein Antibody-Associated Encephalomyelitis in a Retrospective Cohort of Chinese Patients

Zhong, X., Zhou, Y., Chang, Y., Wang, J., Shu, Y., Sun, X., Peng, L., Lau, A. Y., Kermode, A. G. & Qiu, W., 26 Apr 2019, In : Frontiers in Neurology. 10, 9 p., 415.

Research output: Contribution to journalArticle

Open Access

Serum Amyloid Alpha Is Downregulated in Peripheral Tissues of Parkinson's Disease Patients

Kurvits, L., Reimann, E., Kadastik-Eerme, L., Truu, L., Kingo, K., Erm, T., Koks, S., Taba, P. & Planken, A., 29 Jan 2019, In : Frontiers in Neuroscience. 13, 6 p., 13.

Research output: Contribution to journalArticle

Open Access

Short-term changes in frequencies of circulating leukocytes associated with narrowband UVB phototherapy in people with clinically isolated syndrome

Trend, S., Jones, A. P., Cha, L., Cooper, M. N., Geldenhuys, S., Fabis-Pedrini, M. J., Carroll, W. M., Cole, J. M., Booth, D. R., Lucas, R. M., French, M. A., Byrne, S. N., Kermode, A. G. & Hart, P. H., 28 May 2019, In : Scientific Reports. 9, 1, 13 p., 7980.

Research output: Contribution to journalArticle

Open Access

The potential influence of bone-derived modulators on the progression of Alzheimer's disease

Yuan, J., Meloni, B. P., Shi, T., Bonser, A., Papadimitriou, J. M., Mastaglia, F. L., Zhang, C., Zheng, M. & Gao, J., 7 May 2019, In : Journal of Alzheimer's Disease. 69, 1, p. 59-70 12 p.

Research output: Contribution to journalReview article

Alzheimer Disease
Bone and Bones
Human Body
Neurodegenerative Diseases
Osteoporosis
Open Access
Mental Health
Video Games
Sexuality
Focus Groups
Attempted Suicide
1 Citation (Scopus)
Cholecalciferol
Vitamin D
Skin
Irradiation
Ultraviolet radiation
2018

2018 Editors’ commentary

Thompson, A., Antel, J., Carroll, W. M. & Geurts, J. J. G., 1 Oct 2018, In : Multiple Sclerosis Journal. 24, 11, p. 1394-1395 2 p.

Research output: Contribution to journalEditorial

6 Citations (Scopus)

A platform for discovery of functional cell-penetrating peptides for efficient multi-cargo intracellular delivery

Hoffmann, K., Milech, N., Juraja, S. M., Cunningham, P. T., Stone, S. R., Francis, R. W., Anastasas, M., Hall, C. M., Heinrich, T., Bogdawa, H. M., Winslow, S., Scobie, M. N., Dewhurst, R. E., Florez, L., Ong, F., Kerfoot, M., Champain, D., Adams, A. M., Fletcher, S., Viola, H. M. & 10 othersHool, L. C., Connor, T., Longville, B. A. C., Tan, Y. F., Kroeger, K., Morath, V., Weiss, G. A., Skerra, A., Hopkins, R. M. & Watt, P. M., 1 Dec 2018, In : Scientific Reports. 8, 1, 12538.

Research output: Contribution to journalArticle

Open Access
Cell-Penetrating Peptides
Cytoplasm
Peptide Nucleic Acids
Cell Engineering
Bacterial Genomes

A randomised, controlled clinical trial of narrowband UVB phototherapy for clinically isolated syndrome: The PhoCIS study

Hart, P. H., Jones, A. P., Trend, S., Cha, L., Fabis-Pedrini, M. J., Cooper, M. N., d'Este, C., Geldenhuys, S., Carroll, W. M., Byrne, S. N., Booth, D. R., Cole, J. M., Lucas, R. M. & Kermode, A. G., 22 May 2018, In : Multiple Sclerosis Journal - Experimental, Translational and Clinical. 4, 2, 6 p.

Research output: Contribution to journalArticle

Open Access
Phototherapy
Multiple Sclerosis
Randomized Controlled Trials
Radiation
Calcifediol
1 Citation (Scopus)

Assessment of therapeutic window for poly-arginine-18D (R18D) in a P7 rat model of perinatal hypoxic-ischaemic encephalopathy

Edwards, A. B., Anderton, R. S., Knuckey, N. W. & Meloni, B. P., 1 Nov 2018, In : Journal of Neuroscience Research. 96, 11, p. 1816-1826 11 p.

Research output: Contribution to journalArticle

Brain Hypoxia-Ischemia
Arginine
Peptides
Neuroprotective Agents
Therapeutics

Association of serum Cystatin C with neuromyelitis optica spectrum disorders

Shu, Y., Zhang, L., Chang, Y., Li, R., Sun, X., Li, J., Wu, H., Yang, Y., Peng, L., Lu, Z., Kermode, A. G. & Qiu, W., 1 Jul 2018, In : European Journal of Neurology. 25, 7, p. 999-1002 4 p.

Research output: Contribution to journalArticle

Neuromyelitis Optica
Cystatin C
Serum
Magnetic Resonance Imaging
Recurrence
1 Citation (Scopus)

A systematic review of psychological interventions in total hip and knee arthroplasty

Bay, S., Kuster, L., McLean, N., Byrnes, M. & Kuster, M. S., 21 Jun 2018, In : BMC Musculoskeletal Disorders. 19, 1, 201.

Research output: Contribution to journalReview article

Open Access
Knee Replacement Arthroplasties
Hip
Tacrine
Psychology
Orthopedics
1 Citation (Scopus)

B cell depleting therapy for multiple sclerosis overlapping with neuromyelitis optica spectrum disorder

Lu, T., Shu, Y., Dai, Y., Liu, X., Chang, Y., Huang, Q., Kermode, A. G. & Qiu, W., 1 May 2018, In : Multiple Sclerosis and Related Disorders. 22, p. 83-85 3 p.

Research output: Contribution to journalArticle

Neuromyelitis Optica
Cell- and Tissue-Based Therapy
Multiple Sclerosis
B-Lymphocytes
Azathioprine
6 Citations (Scopus)
Open Access
Enantiomers
Middle Cerebral Artery Infarction
enantiomers
toxicity testing
arteries
2 Citations (Scopus)

Demographic and Clinical Predictors of Trait Impulsivity in Parkinson's Disease Patients

Riley, M., Bakeberg, M., Byrnes, M., Jefferson, A., Ghosh, S., Stell, R., Mastaglia, F. L., Hince, D. & Anderton, R. S., 2018, In : Parkinson's Disease. 2018, 7 p., 9472120.

Research output: Contribution to journalArticle

Open Access
2 Citations (Scopus)

Ectrodactyly in a Chinese patient born to a mother with neuromyelitis optica spectrum disorder

Chang, Y., Shu, Y., Sun, X., Xu, C., He, D., Fang, L., Chen, C., Hu, X., Kermode, A. & Qiu, W., 1 Jan 2018, In : Multiple Sclerosis and Related Disorders. 19, p. 70-72 3 p.

Research output: Contribution to journalArticle

Neuromyelitis Optica
Immunoglobulin G
Mothers
Neuritis
Spontaneous Abortion
1 Citation (Scopus)

Higher serum immunoglobulin G3 levels may predict the development of multiple sclerosis in individuals with clinically isolated syndrome

Trend, S., Jones, A. P., Cha, L., Byrne, S. N., Geldenhuys, S., Fabis-Pedrini, M. J., Carroll, W. M., Cole, J. M., Booth, D. R., Lucas, R. M., Kermode, A. G., French, M. A. & Hart, P. H., 13 Jul 2018, In : Frontiers in Immunology. 9, JUL, 1590.

Research output: Contribution to journalArticle

Open Access
Multiple Sclerosis
Immunoglobulins
Immunoglobulin G
Serum
Immunoglobulin M
116 Downloads (Pure)
File
Western Australia
Wounds and Injuries
Growth
Population
Survivors

Improved Biological Properties of Calcium Phosphate Cement by Nacre Incorporation: An In Vitro Study

Ruan, R., Zheng, M., Gao, J., Landao-Bassonga, E., Chen, L., Chen, P., Wang, T. & Zhao, X., Jan 2018, In : Journal of Biomaterials and Tissue Engineering. 8, 1, p. 67-79 13 p.

Research output: Contribution to journalArticle

3 Citations (Scopus)

Infections in neuromyelitis optica spectrum disorder

Zhong, X., Zhou, Y., Lu, T., Wang, Z., Fang, L., Peng, L., Kermode, A. G. & Qiu, W., 1 Jan 2018, In : Journal of Clinical Neuroscience. 47, p. 14-19 6 p.

Research output: Contribution to journalReview article

Neuromyelitis Optica
Infection
Hygiene Hypothesis
Autoimmune Diseases