Research graph
References from Advanced neuroimaging in rare diseases: The paradigm of quantification in the era of personalized medicine. Local targets link to admitted publications; unresolved targets remain external evidence.
Operational description of rare diseases: a reference to improve the recognition and visibility of rare diseases
10.1186/s13023-024-03322-7 · 2024 · External reference
Leaving no patient behind! Expert recommendation in the use of innovative technologies for diagnosing rare diseases
10.1186/s13023-024-03361-0 · 2024 · External reference
Imaging techniques in the evaluation of rare diseases
2024 · External reference
The primary role of radiological imaging in the diagnosis of rare musculoskeletal diseases. Emphasis on ultrasound
10.15557/jou.2019.0028 · 2019 · External reference
A review of neuroimaging in rare neurodegenerative diseases
10.1159/000512543 · 2021 · External reference
Is advanced neuroimaging for neuroradiologists? A systematic review of the scientific literature of the last decade
10.1007/s00234-016-1761-3 · 2016 · External reference
Developing patient-centred MRI safety culture: a quality improvement report
2019 · External reference
MRI safety—developing the right culture
10.1007/s00247-025-06179-5 · 2025 · External reference
A multimodal concept for invasive diagnostics and surgery based on neuronavigated voxel-based morphometric MRI postprocessing data in previously nonlesional epilepsy
10.3171/2016.12.jns161676 · 2018 · External reference
MRI segmentation of the human brain: challenges, methods, and applications
2015 · External reference
A survey of methods for brain tumor segmentation-based MRI images
2023 · External reference
Advanced MRI for pediatric brain tumors with emphasis on clinical benefits
10.3348/kjr.2017.18.1.194 · 2017 · External reference
Utility of advanced brain MRI techniques for clinical and research purposes in a low-resource setting: a multicentre survey
10.1016/j.nexres.2025.100638 · 2025 · External reference
Advanced MRI imaging techniques in pediatric brain tumors
10.1007/s00247-024-05966-w · 2024 · External reference
The future impact of advanced imaging and artificial intelligence on the diagnosis and R&D of rare diseases
2025 · External reference
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations
10.1093/brain/awac117 · 2022 · External reference
Malformations of cortical development: what's new?
2024 · External reference
Classification issues in malformations caused by abnormalities of cortical development
10.1016/s1042-3680(02)80002-x · 2002 · External reference
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies
10.1093/brain/awr357 · 2012 · External reference
White matter disruptions related to inattention and autism spectrum symptoms in tuberous sclerosis complex
2022 · External reference
Fragile X premutation carriers: a systematic review of neuroimaging findings
10.1016/j.jns.2015.03.031 · 2015 · External reference
Zellweger syndrome: depiction of MRI findings in early infancy at 3.0T
10.1177/1971400917700670 · 2017 · External reference
Visual interpretability in 3D brain tumor segmentation network
2021 · External reference
Brain tumor segmentation from 3D MRI scans using U-Net
10.1007/s42979-023-01854-6 · 2023 · External reference
Segmentation and classification of brain tumor using 3D-UNet deep neural networks
2022 · External reference
Genetic syndromes associated with craniosynostosis
10.3340/jkns.2016.59.3.187 · 2016 · External reference
Craniosinostosis en la infancia: diagnóstico por TC 3D y técnica quirúrgica de remodelación craneal
10.36557/2674-8169.2025v7n12p1419-1433 · 2025 · External reference
Hybrid computed tomography and magnetic resonance imaging 3D printed models for neurosurgery planning
10.21037/atm.2019.10.109 · 2019 · External reference
Neuroimaging in Fabry disease: current knowledge and future directions
10.1007/s13244-018-0664-8 · 2018 · External reference
MRI surveillance of boys with X-linked adrenoleukodystrophy identified by newborn screening: meta-analysis and consensus guidelines
10.1002/jimd.12356 · 2021 · External reference
Advanced diffusion MRI and biomarkers in the central nervous system: a new approach
2017 · External reference
Brain MRI correlations with disease burden and biomarkers in Fabry disease
10.1007/s00415-023-11826-8 · 2023 · External reference
Magnetic resonance imaging, susceptibility weighted imaging and quantitative susceptibility mapping findings of pantothenate kinase-associated neurodegeneration
10.1016/j.jocn.2018.10.090 · 2019 · External reference
Quantitative brain MRI morphology in severe and attenuated forms of mucopolysaccharidosis type I
10.1016/j.ymgme.2022.01.001 · 2022 · External reference
Diffusion tensor imaging with free-water correction reveals distinctions between severe and attenuated subtypes in Mucopolysaccharidosis type I
10.1002/jimd.12830 · 2025 · External reference
MRI features of stroke-like episodes in mitochondrial encephalomyopathy with lactic acidosis and stroke-like episodes
2022 · External reference
Multiparametric MRI detection of cerebral metabolism: a tool for early differentiation between MELAS and ischemic cerebral infarction
10.21037/qims-24-2396 · 2025 · External reference
Epidemiology of brain and other CNS tumors
10.1007/s11910-021-01152-9 · 2021 · External reference
Alterations in brain morphology by MRI in adults with neurofibromatosis 1
10.1186/s13023-021-02097-5 · 2021 · External reference
Hemangioblastomas and other vascular origating tumors of brain or spinal cord
10.1007/978-3-031-23705-8_14 · 2023 · External reference
Gadolinium-based contrast agents (GBCAs) for MRI: a benefit–risk balance analysis from a chemical, biomedical, and environmental point of view
2025 · External reference
Clinical imaging of tumor metabolism with 1H magnetic resonance spectroscopy
10.1016/j.mric.2015.09.002 · 2016 · External reference
Correlation between arterial spin-labeling perfusion and histopathological vascular density of pediatric intracranial tumors
10.1007/s11060-017-2604-8 · 2017 · External reference
Applying amide proton transfer-weighted imaging (APTWI) to distinguish papillary thyroid carcinomas and predominantly solid adenomatous nodules: comparison with diffusion-weighted imaging
2020 · External reference
Current and future MR contrast agents: seeking a better chemical stability and relaxivity for optimal safety and efficacy
10.1097/rli.0000000000000684 · 2020 · External reference
Revisiting the risks of MRI with Gadolinium based contrast agents? Review of literature and guidelines
10.1007/s13244-015-0420-2 · 2015 · External reference
Gadolinium deposition within the dentate nucleus and globus pallidus after repeated administrations of gadolinium-based contrast agents—current status
10.1007/s00234-016-1658-1 · 2016 · External reference
Advanced MRI assessment of non-enhancing peritumoral signal abnormality in brain lesions
2021 · External reference
European reference network for rare vascular diseases (VASCERN): when and how to use intravenous bevacizumab in Hereditary Haemorrhagic Telangiectasia (HHT)?
10.1016/j.ejmg.2022.104575 · 2022 · External reference
CADASIL: an overview of a rare cerebrovascular disease
10.30574/gscarr.2025.23.3.0165 · 2025 · External reference
Diffusion tensor imaging to map brain microstructural changes in CADASIL
10.1111/jon.12374 · 2017 · External reference
Effects of cerebral blood flow and white matter integrity on cognition in CADASIL patients
2019 · External reference
Hereditary hemorrhagic telangiectasia and arterio-venous malformations—from diagnosis to therapeutic challenges
10.3390/jcm11092634 · 2022 · External reference
Non-contrast magnetic resonance angiography: techniques, principles, and applications
10.1016/j.mric.2023.04.001 · 2023 · External reference
Non-contrast magnetic resonance angiography/venography techniques: what are my options?
10.1007/s00247-021-05067-y · 2022 · External reference
From 2D to 4D phase-contrast MRI in the neurovascular system: will it be a quantum jump or a fancy decoration?
10.1002/jmri.27430 · 2022 · External reference
Conventional and advanced MRI evaluation of brain vascular malformations
10.1111/jon.12853 · 2021 · External reference
Artificial intelligence in radiology: relevance of collaborative work between radiologists and engineers for building a multidisciplinary team
10.1016/j.crad.2020.11.113 · 2021 · External reference
Relevance of advanced imaging analysis units in radiology departments: a narrative review
10.1007/s11548-025-03529-4 · 2025 · External reference
Challenges in the clinical management of rare diseases and center-based multidisciplinary approach to creating solutions
10.1007/s00431-025-06101-z · 2025 · External reference
