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Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma

Acta neuropathologica, 2012-08, Vol.124 (2), p.259-271

2012

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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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Recurrent adamantinomatous craniopharyngiomas show MAPK pathway activation, clonal evolution and rare TP53-loss-mediated malignant progression

Acta neuropathologica communications, 2024-08, Vol.12 (1), p.127-15, Article 127

2024

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2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist

Neuroradiology, 2022-10, Vol.64 (10), p.1919-1950

2022

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Free virtual issue: Novel paradigms for inborn errors with muscular and central neuropathology

Journal of inherited metabolic disease, 2020-09, Vol.43 (5), p.903-903

2020

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Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell

Acta neuropathologica, 2010-07, Vol.120 (1), p.85-96

2010

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Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target

Acta neuropathologica, 2018-05, Vol.135 (5), p.757-777

2018

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Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours

Acta neuropathologica, 2018-01, Vol.135 (1), p.115-129

2018

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Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

Acta neuropathologica, 2020-01, Vol.139 (1), p.193-209

2020

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Anti-MDA5 autoantibodies in juvenile dermatomyositis identify a distinct clinical phenotype: a prospective cohort study

Arthritis research & therapy, 2014-07, Vol.16 (4), p.R138-R138

2014

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The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Genetics in medicine, 2017-11, Vol.19 (11), p.1217-1225

2017

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Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development—a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis

Child's nervous system, 2021-07, Vol.37 (7), p.2375-2379

2021

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Epigenetic profiling reveals a subset of pediatric-type glioneuronal tumors characterized by oncogenic gene fusions involving several targetable kinases

Acta neuropathologica, 2022-11, Vol.144 (5), p.1049-1052

2022

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Comparison of diagnostic performance for perinatal and paediatric post-mortem imaging: CT versus MRI

European radiology, 2016-07, Vol.26 (7), p.2327-2336

2016

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Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis

Acta neuropathologica, 2017-01, Vol.133 (1), p.139-147

2017

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Copy number abnormalities in new or progressive ‘neurocutaneous melanosis’ confirm it to be primary CNS melanoma

Acta neuropathologica, 2017-02, Vol.133 (2), p.329-331

2017

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Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Genetics in medicine, 2019-04, Vol.21 (4), p.1027-1027

2019

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Histologically defined central nervous system primitive neuro-ectodermal tumours (CNS-PNETs) display heterogeneous DNA methylation profiles and show relationships to other paediatric brain tumour types

Acta neuropathologica, 2013-12, Vol.126 (6), p.943-946

2013

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Imaging Invasion: Micro-CT imaging of adamantinomatous craniopharyngioma highlights cell type specific spatial relationships of tissue invasion

Acta neuropathologica communications, 2016-06, Vol.4 (1), p.57-57, Article 57

2016

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Histopathology and molecular characterisation of intrauterine-diagnosed congenital craniopharyngioma

Pituitary, 2016-02, Vol.19 (1), p.50-56

2016

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Molecular analysis of pediatric brain tumors identifies microRNAs in pilocytic astrocytomas that target the MAPK and NF-κB pathways

Acta neuropathologica communications, 2015-12, Vol.3 (1), p.86-86, Article 86

2015

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RAF gene fusions are specific to pilocytic astrocytoma in a broad paediatric brain tumour cohort

Acta neuropathologica, 2010-08, Vol.120 (2), p.271-273

2010

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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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Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report

Pediatric rheumatology online journal, 2013-05, Vol.11 (1), p.19-19, Article 19

2013

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Identification of novel pathways involved in the pathogenesis of human adamantinomatous craniopharyngioma

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

Recurrent adamantinomatous craniopharyngiomas show MAPK pathway activation, clonal evolution and rare TP53-loss-mediated malignant progression

2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist

Free virtual issue: Novel paradigms for inborn errors with muscular and central neuropathology

Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell

Tumour compartment transcriptomics demonstrates the activation of inflammatory and odontogenic programmes in human adamantinomatous craniopharyngioma and identifies the MAPK/ERK pathway as a novel therapeutic target

Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours

Isomorphic diffuse glioma is a morphologically and molecularly distinct tumour entity with recurrent gene fusions of MYBL1 or MYB and a benign disease course

Pituitary blastoma: a pathognomonic feature of germ-line DICER1 mutations

Anti-MDA5 autoantibodies in juvenile dermatomyositis identify a distinct clinical phenotype: a prospective cohort study

The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Constitutional mismatch repair deficiency (CMMRD) presenting with high-grade glioma, multiple developmental venous anomalies and malformations of cortical development—a multidisciplinary/multicentre approach and neuroimaging clues to clinching the diagnosis

Epigenetic profiling reveals a subset of pediatric-type glioneuronal tumors characterized by oncogenic gene fusions involving several targetable kinases

Comparison of diagnostic performance for perinatal and paediatric post-mortem imaging: CT versus MRI

Deep sequencing reveals persistence of cell-associated mumps vaccine virus in chronic encephalitis

Copy number abnormalities in new or progressive ‘neurocutaneous melanosis’ confirm it to be primary CNS melanoma

Correction: The clinical spectrum and natural history of early-onset diseases due to DNA polymerase gamma mutations

Histologically defined central nervous system primitive neuro-ectodermal tumours (CNS-PNETs) display heterogeneous DNA methylation profiles and show relationships to other paediatric brain tumour types

Imaging Invasion: Micro-CT imaging of adamantinomatous craniopharyngioma highlights cell type specific spatial relationships of tissue invasion

Histopathology and molecular characterisation of intrauterine-diagnosed congenital craniopharyngioma

Molecular analysis of pediatric brain tumors identifies microRNAs in pilocytic astrocytomas that target the MAPK and NF-κB pathways

RAF gene fusions are specific to pilocytic astrocytoma in a broad paediatric brain tumour cohort

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

Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report

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