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mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis

Acta neuropathologica, 2013-08, Vol.126 (2), p.207-218

2013

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Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment

Cerebellum (London, England), 2024-04, Vol.23 (2), p.502-511

2024

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Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients

Clinical infectious diseases, 2015-03, Vol.60 (6), p.881-888

2015

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Untargeted Metabolomic Characterization of Glioblastoma Intra-Tumor Heterogeneity Using OrbiSIMS

Analytical chemistry (Washington), 2023-04, Vol.95 (14), p.5994-6001

2023

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A retrospective analysis of recurrent pediatric ependymoma reveals extremely poor survival and ineffectiveness of current treatments across central nervous system locations and molecular subgroups

Pediatric blood & cancer, 2020-09, Vol.67 (9), p.e28426-n/a

2020

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Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence

Genome medicine, 2023-07, Vol.15 (1), p.48-48, Article 48

2023

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Optimizing biomarkers for accurate ependymoma diagnosis, prognostication, and stratification within International Clinical Trials: A BIOMECA study

Neuro-oncology (Charlottesville, Va.), 2023-10, Vol.25 (10), p.1871-1882

2023

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Tissue metabolite profiles for the characterisation of paediatric cerebellar tumours

Scientific reports, 2018-08, Vol.8 (1), p.11992-10, Article 11992

2018

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SIOP Ependymoma I: Final results, long-term follow-up, and molecular analysis of the trial cohort-A BIOMECA Consortium Study

Neuro-oncology (Charlottesville, Va.), 2022-06, Vol.24 (6), p.936-948

2022

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Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

Neuromuscular disorders : NMD, 2013-05, Vol.23 (5), p.391-398

2013

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A case series of Diffuse Glioneuronal Tumours with Oligodendroglioma‐like features and Nuclear Clusters (DGONC)

Neuropathology and applied neurobiology, 2021-04, Vol.47 (3), p.464-467

2021

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Assembly, structure, and function of the 26S proteasome

Trends in cell biology, 2010-07, Vol.20 (7), p.391-401

2010

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Pale body-like inclusion formation and neurodegeneration following depletion of 26S proteasomes in mouse brain neurones are independent of α-synuclein

PloS one, 2013, Vol.8 (1), p.e54711-e54711

2013

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Continued 26S proteasome dysfunction in mouse brain cortical neurons impairs autophagy and the Keap1-Nrf2 oxidative defence pathway

Cell death & disease, 2017-01, Vol.8 (1), p.e2531-e2531

2017

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Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI

Acta neuropathologica, 2012-03, Vol.123 (3), p.453-456

2012

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Review: Neuropathological features of unexplained sudden unexpected death in infancy: current evidence and controversies

Neuropathology and applied neurobiology, 2014-06, Vol.40 (4), p.364-384

2014

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Brain weight in sudden unexpected death in infancy: experience from a large single-centre cohort

Neuropathology and applied neurobiology, 2016-06, Vol.42 (4), p.344-351

2016

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Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy

Muscle & nerve, 2024-07

2024

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Multi-omic approach identifies hypoxic tumor-associated myeloid cells that drive immunobiology of high-risk pediatric ependymoma

iScience, 2023-09, Vol.26 (9), p.107585, Article 107585

2023

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Depletion of 26S Proteasomes in Mouse Brain Neurons Causes Neurodegeneration and Lewy-Like Inclusions Resembling Human Pale Bodies

The Journal of neuroscience, 2008-08, Vol.28 (33), p.8189-8198

2008

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Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis

Neuropathology and applied neurobiology, 2021-10, Vol.47 (6), p.781-795

2021

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Characterization of a population of neural progenitor cells in the infant hippocampus

Neuropathology and applied neurobiology, 2014-08, Vol.40 (5), p.544-550

2014

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Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

Neuropathology and applied neurobiology, 2015-04, Vol.41 (3), p.399-402

2015

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Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic-pathological correlation

Neuropathology and applied neurobiology, 2015-10, Vol.41 (6), p.832-836

2015

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Challenges for the functional diffusion map in pediatric brain tumors

Neuro-oncology (Charlottesville, Va.), 2014-03, Vol.16 (3), p.449-456

2014

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mTOR-dependent abnormalities in autophagy characterize human malformations of cortical development: evidence from focal cortical dysplasia and tuberous sclerosis

Disproportionate Expression of ATM in Cerebellar Cortex During Human Neurodevelopment

Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients

Untargeted Metabolomic Characterization of Glioblastoma Intra-Tumor Heterogeneity Using OrbiSIMS

A retrospective analysis of recurrent pediatric ependymoma reveals extremely poor survival and ineffectiveness of current treatments across central nervous system locations and molecular subgroups

Spatially resolved transcriptomic profiles reveal unique defining molecular features of infiltrative 5ALA-metabolizing cells associated with glioblastoma recurrence

Optimizing biomarkers for accurate ependymoma diagnosis, prognostication, and stratification within International Clinical Trials: A BIOMECA study

Tissue metabolite profiles for the characterisation of paediatric cerebellar tumours

SIOP Ependymoma I: Final results, long-term follow-up, and molecular analysis of the trial cohort-A BIOMECA Consortium Study

Clinical and neuropathological features of X-linked spinal muscular atrophy (SMAX2) associated with a novel mutation in the UBA1 gene

A case series of Diffuse Glioneuronal Tumours with Oligodendroglioma‐like features and Nuclear Clusters (DGONC)

Assembly, structure, and function of the 26S proteasome

Pale body-like inclusion formation and neurodegeneration following depletion of 26S proteasomes in mouse brain neurones are independent of α-synuclein

Continued 26S proteasome dysfunction in mouse brain cortical neurons impairs autophagy and the Keap1-Nrf2 oxidative defence pathway

Neuropathology of neurocutaneous melanosis: histological foci of melanotic neurones and glia may be undetectable on MRI

Review: Neuropathological features of unexplained sudden unexpected death in infancy: current evidence and controversies

Brain weight in sudden unexpected death in infancy: experience from a large single-centre cohort

Dominant stop‐loss HNRNPA1 variants in juvenile‐onset myopathy

Multi-omic approach identifies hypoxic tumor-associated myeloid cells that drive immunobiology of high-risk pediatric ependymoma

Depletion of 26S Proteasomes in Mouse Brain Neurons Causes Neurodegeneration and Lewy-Like Inclusions Resembling Human Pale Bodies

Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis

Characterization of a population of neural progenitor cells in the infant hippocampus

Tubular aggregates caused by serine active site containing 1 (SERAC1) mutations in a patient with a mitochondrial encephalopathy

Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic-pathological correlation

Challenges for the functional diffusion map in pediatric brain tumors

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