V. Fabian

发表

Primary over‐expression of AβPP in muscle does not lead to the development of inclusion body myositis in a new lineage of the MCK‐AβPP transgenic mouse

F. Mastaglia, S. Wilton, S. Fletcher, 2013, International journal of experimental pathology.

Investigation of splicing changes and post-translational processing of LMNA in sporadic inclusion body myositis.

F. Mastaglia, S. Wilton, S. Fletcher, 2013, International journal of clinical and experimental pathology.

An analysis of the sensitivity and specificity of MHC-I and MHC-II immunohistochemical staining in muscle biopsies for the diagnosis of inflammatory myopathies

F. Mastaglia, P. R. Cruz, Yue-Bei Luo, 2014, Neuromuscular Disorders.

Rescue of skeletal muscle alpha-actin-null mice by cardiac ( fetal ) alpha-actin

K. Davies, G. Morahan, S. Clément, 2017 .

Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin

K. Davies, G. Morahan, S. Clément, 2009, The Journal of cell biology.

Investigation of age-related changes in LMNA splicing and expression of progerin in human skeletal muscles.

F. Mastaglia, S. Wilton, S. Fletcher, 2013, International journal of clinical and experimental pathology.

Butyrylcholinesterase K variant and Alzheimer’s disease

S. Vasikaran, P. Panegyres, C. Mamotte, 1999, Journal of Neurology.

Topical tretinoin and fetal malformations

B. Kakulas, V. Fabian, I. Walpole, 1998, The Medical journal of Australia.

Early progressive encephalopathy in boys and MECP2 mutations

W. Kaufmann, M. Friez, J. Christodoulou, 2006, Neurology.

Dominant mutations in KBTBD13, a member of the BTB/Kelch family, cause nemaline myopathy with cores.

F. Mastaglia, H. Kremer, G. Ravenscroft, 2010, American journal of human genetics.

Laing early onset distal myopathy: slow myosin defect with variable abnormalities on muscle biopsy

F. Mastaglia, P. Hedera, N. Laing, 2005, Journal of Neurology, Neurosurgery & Psychiatry.

Ganglioglioma of the optic chiasm: case report and review of the literature.

E. Kirsch, S. Shuangshoti, V. Fabian, 2000, AJNR. American journal of neuroradiology.

Paraspinal and Scapular Myopathy Associated With Scleroderma

F. Mastaglia, S. Walters, P. Zilko, 2010, Journal of clinical neuromuscular disease.

Progressive myopathy with up-regulation of MHC-I associated with statin therapy

F. Mastaglia, P. Panegyres, M. Needham, 2007, Neuromuscular Disorders.

The association of sporadic inclusion body myositis and Sjögren's syndrome in carriers of HLA-DR3 and the 8.1 MHC ancestral haplotype

F. Mastaglia, M. Needham, P. Zilko, 2011, Clinical Neurology and Neurosurgery.

Neuropathological Homology in True Galloway-Mowat Syndrome

Y. Robitaille, R. Sinniah, V. Fabian, 2011, Journal of child neurology.

Expression of cardiac α-actin spares extraocular muscles in skeletal muscle α-actin diseases – Quantification of striated α-actins by MRM-mass spectrometry

S. Clément, G. Ravenscroft, N. Laing, 2008, Neuromuscular Disorders.

Mutations in the slow skeletal muscle fiber myosin heavy chain gene (MYH7) cause laing early-onset distal myopathy (MPD1).

F. Mastaglia, P. Hedera, N. Laing, 2004, American journal of human genetics.

The neuropathology of heat effect. is ‘cerebral swelling’ thermal artefact?

V. Fabian, G. Cadden, J. McCreath, 2013 .

Nemaline rods and complex I deficiency in three infants with hypotonia, motor delay and failure to thrive.

C. Hawkins, N. Laing, Ann Saada, 2004, Neuropediatrics.

Mutations in KLHL40 are a frequent cause of severe autosomal-recessive nemaline myopathy.

E. Bertini, F. Muntoni, R. Bryson-Richardson, 2013, American journal of human genetics.

Classic and desmoplastic medulloblastoma: Complete case reports and characterizations of two new cell lines

P. Dallas, U. Kees, G. Wong, 2009, Neuropathology : official journal of the Japanese Society of Neuropathology.

Consensus neuropathological diagnosis of common dementia syndromes: testing and standardising the use of multiple diagnostic criteria

C. Masters, J. Kril, G. Halliday, 2002, Acta Neuropathologica.

Collecting duct carcinoma of the kidney: A report of three cases and review of the literature

B. Latham, J. Vivian, V. Fabian, 1997, Pathology.

A 22-year-old Australian woman with atypical subacute sclerosing panencephalitis diagnosed at postmortem

Hwei Yee Lee, E. Stewart-Wynne, V. Fabian, 2010, Journal of Clinical Neuroscience.

Familial inclusion body myositis in a mother and son with different ancestral MHC haplotypes

Susan Walters, Patricia Price, F. Mastaglia, 2006, Neuromuscular Disorders.

Adult onset distal and proximal myopathy with complete ophthalmoplegia associated with a novel de novo p.(Leu1877Pro) mutation in MYH2

N. Laing, J. Boutilier, P. Lamont, 2015, Clinical genetics.

Prevalence of sporadic inclusion body myositis and factors contributing to delayed diagnosis

Timothy Day, Frank Christiansen, F. Christiansen, 2008, Journal of Clinical Neuroscience.

Creutzfeldt-Jakob syndrome presenting as epilepsia partialis continua

V. Fabian, W. Knezevic, P. Tuch, 2001, Journal of Clinical Neuroscience.

Intraneural perineurioma

R. Edis, R. Manasseh, V. Fabian, 2009, Journal of Clinical Neuroscience.

Consensus report of the working group on: 'Molecular and biochemical markers of Alzheimer's disease'

Giovanni B. Frisoni, Alfredo Robles, Takeshi Iwatsubo, 1998 .

Normative data of muscle fiber diameter of vastus lateralis during childhood: a field test

Ashleigh L Thornton, E. Blair, C. Elliott, 2019, Muscle & nerve.

Muscle histopathology in children with spastic cerebral palsy receiving botulinum toxin type A

C. Elliott, J. Valentine, S. Reid, 2016, Muscle & nerve.

Fatal Cerebellar Hemorrhage Following Australian Brown Snake Envenomation

J. Keith, V. Fabian, Jodi White, 2012, Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques.

Dominantly inherited proximal myotonic myopathy and leukoencephalopathy in a family with an incidental CLCN1 mutation

G. Hankey, F. Mastaglia, N. Laing, 1998, Journal of neurology, neurosurgery, and psychiatry.

Complement-mediated muscle cell lysis: A possible mechanism of myonecrosis in anti-SRP associated necrotizing myopathy (ASANM)

F. Mastaglia, S. Wilton, C. Mitrpant, 2013, Journal of Neuroimmunology.

Lethal X-linked microcephaly with dysmorphic features, bilateral optic pathway aplasia and normal eyes

J. Nelson, H. Urich, V. Fabian, 2001, Acta Neuropathologica.

Apolipoprotein E and Alzheimer's disease

S. Wilton, B. Kakulas, Steve D. Wilton, 1995 .

P2.50 Discovery of novel proteins, polyalanine and pre-B-cell leukaemia transcription factor 2 (PBX2), upregulated in inflammatory myopathies

B. Brais, G. Ravenscroft, N. Laing, 2010, Neuromuscular Disorders.

Uva-dare (digital Academic Repository) Mutations in the Slow Skeletal Muscle Fiber Myosin Heavy Chain Gene (myh7) Cause Laing Early-onset Distal Myopathy (mpd1)

F. Mastaglia, P. Hedera, N. Laing, 2022 .

Rescue of skeletal muscle α-actin–null mice by cardiac (fetal) α-actin

K. Davies, G. Morahan, S. Clément, 2009, The Journal of cell biology.

Prevalence of sporadic inclusion body myositis and factors contributing to delayed diagnosis

F. Christiansen, F. Mastaglia, T. Day, 2008, Journal of Clinical Neuroscience.