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Decision making for health‐related research outcomes that alter diagnosis: A model from paediatric brain tumours.
- Published in:
- Neuropathology & Applied Neurobiology, 2024, v. 50, n. 4, p. 1, doi. 10.1111/nan.12994
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- Publication type:
- Article
Real-time quantitative PCR analysis of pediatric ependymomas identifies novel candidate genes including TPR at 1q25 and CHIBBY at 22q12-q13.
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- Genes, Chromosomes & Cancer, 2008, v. 47, n. 11, p. 1005, doi. 10.1002/gcc.20607
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- Article
Genetic and pathological links between Parkinson's disease and the lysosomal disorder Sanfilippo syndrome.
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- Movement Disorders, 2012, v. 27, n. 2, p. 312, doi. 10.1002/mds.24029
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- Publication type:
- Article
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
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- Child's Nervous System, 2021, v. 37, n. 7, p. 2375, doi. 10.1007/s00381-020-04986-9
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- Publication type:
- Article
Mkp1 Is a c-Jun Target Gene That Antagonizes JNK-Dependent Apoptosis in Sympathetic Neurons.
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- Journal of Neuroscience, 2010, v. 30, n. 32, p. 10820, doi. 10.1523/JNEUROSCI.2824-10.2010
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- Publication type:
- Article
Mutation of SALL2 causes recessive ocular coloboma in humans and mice.
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- Human Molecular Genetics, 2014, v. 23, n. 10, p. 2511, doi. 10.1093/hmg/ddt643
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- Publication type:
- Article
Stem cell senescence drives age-attenuated induction of pituitary tumours in mouse models of paediatric craniopharyngioma.
- Published in:
- Nature Communications, 2017, v. 8, n. 1, p. 1, doi. 10.1038/s41467-017-01992-5
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- Publication type:
- Article
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism-dystonia.
- Published in:
- Nature Communications, 2016, v. 7, n. 5, p. 11601, doi. 10.1038/ncomms11601
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- Publication type:
- Article
Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing.
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- European Journal of Human Genetics, 2013, v. 21, n. 11, p. 1249, doi. 10.1038/ejhg.2013.31
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- Article
Astrovirus VA1/HMO-C: An Increasingly Recognized Neurotropic Pathogen in Immunocompromised Patients.
- Published in:
- 2015
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- Publication type:
- Case Study
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy.
- Published in:
- 2017
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- Publication type:
- journal article
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
- Published in:
- 2016
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- Publication type:
- journal article
Post-mortem apparent resolution of fetal ventriculomegaly: evidence from magnetic resonance imaging.
- Published in:
- Prenatal Diagnosis, 2013, v. 33, n. 4, p. 360, doi. 10.1002/pd.4065
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- Publication type:
- Article
Epigenetic profiling reveals a subset of pediatric-type glioneuronal tumors characterized by oncogenic gene fusions involving several targetable kinases.
- Published in:
- Acta Neuropathologica, 2022, v. 144, n. 5, p. 1049, doi. 10.1007/s00401-022-02492-7
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- Publication type:
- Article
Comprehensive molecular characterisation of epilepsy-associated glioneuronal tumours.
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- Acta Neuropathologica, 2018, v. 135, n. 1, p. 115, doi. 10.1007/s00401-017-1773-z
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- Publication type:
- Article
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.
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- Acta Neuropathologica, 2013, v. 126, n. 6, p. 943, doi. 10.1007/s00401-013-1206-6
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- Publication type:
- Article
RAF gene fusions are specific to pilocytic astrocytoma in a broad paediatric brain tumour cohort.
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- Acta Neuropathologica, 2010, v. 120, n. 2, p. 271, doi. 10.1007/s00401-010-0693-y
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- Publication type:
- Article
Balloon cells in human cortical dysplasia and tuberous sclerosis: isolation of a pathological progenitor-like cell.
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- Acta Neuropathologica, 2010, v. 120, n. 1, p. 85, doi. 10.1007/s00401-010-0677-y
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- Publication type:
- Article
Imaging Invasion: Micro-CT imaging of adamantinomatous craniopharyngioma highlights cell type specific spatial relationships of tissue invasion.
- Published in:
- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0321-8
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- Publication type:
- Article
Molecular analysis of pediatric brain tumorsidentifies microRNAs in pilocytic astrocytomas that target the MAPK and NF-κB pathways.
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- Acta Neuropathologica Communications, 2015, v. 3, p. 1, doi. 10.1186/s40478-015-0266-3
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- Publication type:
- Article
Limb girdle muscular dystrophy type 2B masquerading as inflammatory myopathy: case report.
- Published in:
- 2013
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- Publication type:
- Case Study
The NHS England 100,000 Genomes Project: feasibility and utility of centralised genome sequencing for children with cancer.
- Published in:
- 2022
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- Publication type:
- journal article
Pediatric-type high-grade neuroepithelial tumors with CIC gene fusion share a common DNA methylation signature.
- Published in:
- NPJ Precision Oncology, 2023, v. 7, n. 1, p. 1, doi. 10.1038/s41698-023-00372-1
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- Publication type:
- Article
Muscle Biopsy Findings in Combination With Myositis-Specific Autoantibodies Aid Prediction of Outcomes in Juvenile Dermatomyositis.
- Published in:
- Arthritis & Rheumatology, 2016, v. 68, n. 11, p. 2806, doi. 10.1002/art.39753
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- Publication type:
- Article
Pediatric pan-central nervous system tumor analysis of immune-cell infiltration identifies correlates of antitumor immunity.
- Published in:
- Nature Communications, 2020, v. 11, n. 1, p. N.PAG, doi. 10.1038/s41467-020-18070-y
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- Publication type:
- Article
Melanotic neuroectodermal tumour of infancy: A case report and differential diagnosis.
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- Neuroradiology Journal, 2018, v. 31, n. 4, p. 434, doi. 10.1177/1971400917741770
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- Publication type:
- Article
Methylation-based algorithms for diagnosis: experience from neuro-oncology.
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- Journal of Pathology, 2020, v. 250, n. 5, p. 510, doi. 10.1002/path.5397
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- Publication type:
- Article
Methylation‐based algorithms for diagnosis: experience from neuro‐oncology.
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- Journal of Pathology, 2020, v. 250, n. 4, p. 510, doi. 10.1002/path.5397
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- Publication type:
- Article
Cortical laminar necrosis mimicking leptomeningeal recurrence in a child with medulloblastoma and epilepsy.
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- Pediatric Blood & Cancer, 2023, v. 70, n. 11, p. 1, doi. 10.1002/pbc.30641
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- Publication type:
- Article
A retrospective analysis of recurrent pediatric ependymoma reveals extremely poor survival and ineffectiveness of current treatments across central nervous system locations and molecular subgroups.
- Published in:
- 2020
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- Publication type:
- journal article
Childhood neoplasms presenting at autopsy: A 20-year experience.
- Published in:
- 2017
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- Publication type:
- journal article
2021 WHO classification of tumours of the central nervous system: a review for the neuroradiologist.
- Published in:
- Neuroradiology, 2022, v. 64, n. 10, p. 1919, doi. 10.1007/s00234-022-03008-6
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- Publication type:
- Article
Advanced molecular pathology for rare tumours: A national feasibility study and model for centralised medulloblastoma diagnostics.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 736, doi. 10.1111/nan.12716
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- Publication type:
- Article
Identifying cellular signalling molecules in developmental disorders of the brain: Evidence from focal cortical dysplasia and tuberous sclerosis.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 781, doi. 10.1111/nan.12715
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- Publication type:
- Article
A rare case of paediatric astroblastoma with concomitant MN1‐GTSE1 and EWSR1‐PATZ1 gene fusions altering management.
- Published in:
- Neuropathology & Applied Neurobiology, 2021, v. 47, n. 6, p. 882, doi. 10.1111/nan.12701
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- Publication type:
- Article
Brain weight in sudden unexpected death in infancy: experience from a large single-centre cohort.
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- Neuropathology & Applied Neurobiology, 2016, v. 42, n. 4, p. 344, doi. 10.1111/nan.12251
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- Publication type:
- Article
Genetic heterogeneity for SMARCB1, H3F3A and BRAF in a malignant childhood brain tumour: genetic-pathological correlation.
- Published in:
- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 6, p. 832, doi. 10.1111/nan.12257
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- Publication type:
- Article
Tubular aggregates caused by serine active site containing 1 ( SERAC1) mutations in a patient with a mitochondrial encephalopathy.
- Published in:
- Neuropathology & Applied Neurobiology, 2015, v. 41, n. 3, p. 399, doi. 10.1111/nan.12190
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- Publication type:
- Article
Characterization of a population of neural progenitor cells in the infant hippocampus.
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- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 5, p. 544, doi. 10.1111/nan.12065
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- Publication type:
- Article
Review: Neuropathological features of unexplained sudden unexpected death in infancy: current evidence and controversies.
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- Neuropathology & Applied Neurobiology, 2014, v. 40, n. 4, p. 364, doi. 10.1111/nan.12095
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- Publication type:
- Article
Human IFNAR2 deficiency: Lessons for antiviral immunity.
- Published in:
- Science Translational Medicine, 2015, v. 7, n. 307, p. 1, doi. 10.1126/scitranslmed.aac4227
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- Publication type:
- Article
Combinations of genetic mutations in the adult neural stem cell compartment determine brain tumour phenotypes.
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- EMBO Journal, 2010, v. 29, n. 1, p. 222, doi. 10.1038/emboj.2009.327
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- Publication type:
- Article
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
- Published in:
- 2018
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- Publication type:
- journal article
Mosaic RAS/MAPK variants cause sporadic vascular malformations which respond to targeted therapy.
- Published in:
- 2018
- By:
- Publication type:
- journal article
Free virtual issue: Novel paradigms for inborn errors with muscular and central neuropathology.
- Published in:
- Journal of Inherited Metabolic Disease, 2020, v. 43, n. 5, p. 903, doi. 10.1002/jimd.12299
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- Publication type:
- Article
Embryonal tumor with multilayered rosettes: Overview of diagnosis and therapy.
- Published in:
- 2023
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- Publication type:
- Case Study
Anti-MDA5 autoantibodies in juvenile dermatomyositis identify a distinct clinical phenotype: a prospective cohort study.
- Published in:
- Arthritis Research & Therapy, 2014, v. 16, n. 4, p. 2, doi. 10.1186/ar4600
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- Publication type:
- Article
Genotype‐phenotype correlations in focal malformations of cortical development: a pathway to integrated pathological diagnosis in epilepsy surgery.
- Published in:
- Brain Pathology, 2019, v. 29, n. 4, p. 473, doi. 10.1111/bpa.12686
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- Publication type:
- Article
Preclinical transgenic and patient‐derived xenograft models recapitulate the radiological features of human adamantinomatous craniopharyngioma.
- Published in:
- Brain Pathology, 2018, v. 28, n. 4, p. 475, doi. 10.1111/bpa.12525
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- Publication type:
- Article
Acute flaccid myelitis caused by enterovirus D68 unmasking primary intracranial tumour in a previously healthy child.
- Published in:
- Journal of Paediatrics & Child Health, 2021, v. 57, n. 10, p. 1713, doi. 10.1111/jpc.15374
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- Publication type:
- Article