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Publications

Isolated homozygous R217X OPTN mutation causes knock-out of functional C-terminal optineurin domains and associated oligodendrogliopathy-dominant ALS-TDP.

Nolan M. et al, (2021), J Neurol Neurosurg Psychiatry

Detection and Quantification of Novel C-terminal TDP-43 Fragments in ALS-TDP.

Feneberg E. et al, (2020), Brain Pathol

Amyotrophic lateral sclerosis with a heterozygous D91A SOD1 variant and classical ALS-TDP neuropathology.

Feneberg E. et al, (2020), Neurology, 95, 595 - 596

Quantitative patterns of motor cortex proteinopathy across ALS genotypes.

Nolan M. et al, (2020), Acta Neuropathol Commun, 8

A Noninvasive Comparison Study between Human Gliomas with IDH1 and IDH2 Mutations by MR Spectroscopy.

Shen X. et al, (2019), Metabolites, 9

Dissecting the pathobiology of altered MRI signal in amyotrophic lateral sclerosis: A post mortem whole brain sampling strategy for the integration of ultra-high-field MRI and quantitative neuropathology.

Pallebage-Gamarallage M. et al, (2018), BMC Neurosci, 19

Evaluating fibre orientation dispersion in white matter: Comparison of diffusion MRI, histology and polarized light imaging.

Mollink J. et al, (2017), Neuroimage, 157, 561 - 574

Pathogenesis of FUS-associated ALS and FTD: insights from rodent models.

Nolan M. et al, (2016), Acta Neuropathol Commun, 4

BRAF V600E mutations are characteristic for papillary craniopharyngioma and may coexist with CTNNB1-mutated adamantinomatous craniopharyngioma.

Larkin SJ. et al, (2014), Acta Neuropathol, 127, 927 - 929

Rathke's cleft cyst.

Larkin S. et al, (2014), Handb Clin Neurol, 124, 255 - 269

Expression of vascular Notch ligands Delta-like 4 and Jagged-1 in glioblastoma.

Jubb AM. et al, (2012), Histopathology, 60, 740 - 747

Rathke's cleft cysts.

Trifanescu R. et al, (2012), Clin Endocrinol (Oxf), 76, 151 - 160

Concurrent multiple sclerosis and amyotrophic lateral sclerosis: where inflammation and neurodegeneration meet?

Li G. et al, (2012), J Neuroinflammation, 9

Adenomas of the pituitary gland: Diagnostic challenges, pitfalls and controversies

Roncaroli F. et al, (2011), Diagnostic Histopathology, 17, 476 - 485

The neuropathological approach to the diagnosis of brain tumours

Ansorge O., (2011), Diagnostic Histopathology, 17, 465 - 475

FET proteins TAF15 and EWS are selective markers that distinguish FTLD with FUS pathology from amyotrophic lateral sclerosis with FUS mutations.

Neumann M. et al, (2011), Brain, 134, 2595 - 2609

Progressive encephalomyelitis with rigidity and myoclonus: glycine and NMDA receptor antibodies.

Turner MR. et al, (2011), Neurology, 77, 439 - 443

Outcome in surgically treated Rathke's cleft cysts: long-term monitoring needed.

Trifanescu R. et al, (2011), Eur J Endocrinol, 165, 33 - 37

Pathological heterogeneity in amyotrophic lateral sclerosis with FUS mutations: two distinct patterns correlating with disease severity and mutation.

Mackenzie IRA. et al, (2011), Acta Neuropathol, 122, 87 - 98

Catastrophic hyperkalaemia following administration of suxamethonium chloride to a patient with undiagnosed amyotrophic lateral sclerosis.

Turner MR. et al, (2011), Clin Med (Lond), 11, 292 - 293

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