Cargando…

The genetic landscape and clinical implication of pediatric Moyamoya angiopathy in an international cohort

Pediatric Moyamoya Angiopathy (MMA) is a progressive intracranial occlusive arteriopathy that represents a leading cause of transient ischemic attacks and strokes in childhood. Despite this, up to now no large, exclusively pediatric MMA cohort has been subjected to systematic genetic investigation....

Descripción completa

Detalles Bibliográficos
Autores principales:	Zanoni, Paolo, Steindl, Katharina, Sticht, Heinrich, Oneda, Beatrice, Joset, Pascal, Ivanovski, Ivan, Horn, Anselm H. C., Cabello, Elena M., Laube, Julia, Zweier, Markus, Baumer, Alessandra, Rauch, Anita, Khan, Nadia
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Springer International Publishing 2023
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10325976/ https://www.ncbi.nlm.nih.gov/pubmed/37012328 http://dx.doi.org/10.1038/s41431-023-01320-0

Ejemplares similares

Assessing clinical utility of preconception expanded carrier screening regarding residual risk for neurodevelopmental disorders
por: Boonsawat, Paranchai, et al.
Publicado: (2022)

The current benefit of genome sequencing compared to exome sequencing in patients with developmental or epileptic encephalopathies
por: Grether, Anna, et al.
Publicado: (2023)

Confirmation of Ogden syndrome as an X‐linked recessive fatal disorder due to a recurrent NAA10 variant and review of the literature
por: Gogoll, Laura, et al.
Publicado: (2021)

Elucidation of the phenotypic spectrum and genetic landscape in primary and secondary microcephaly
por: Boonsawat, Paranchai, et al.
Publicado: (2019)

The HHID syndrome of hypertrichosis, hyperkeratosis, abnormal corpus callosum, intellectual disability, and minor anomalies is caused by mutations in ARID1B
por: Zweier, Markus, et al.
Publicado: (2017)

Challenges for the implementation of next generation sequencing-based expanded carrier screening: Lessons learned from the ciliopathies
por: Vintschger, Ella, et al.
Publicado: (2022)

Epidemiology of Moyamoya Angiopathy in Eastern India
por: Das, Shambaditya, et al.
Publicado: (2022)

The angiographic presentation of European Moyamoya angiopathy
por: Pilgram-Pastor, Sara, et al.
Publicado: (2021)

Severe reaction to radiotherapy provoked by hypomorphic germline mutations in ATM (ataxia–telangiectasia mutated gene)
por: Asadollahi, Reza, et al.
Publicado: (2020)

Covid-19 vaccine (covishield) heralding Moyamoya angiopathy()()()
por: Das, Shambaditya, et al.
Publicado: (2022)

Proteome Profiling of the Dura Mater in Patients with Moyamoya Angiopathy
por: Carrozzini, Tatiana, et al.
Publicado: (2023)

The clinical significance of small copy number variants in neurodevelopmental disorders
por: Asadollahi, Reza, et al.
Publicado: (2014)

Predictors of clinical or cerebral lesion progression in adult moyamoya angiopathy
por: Hervé, Dominique, et al.
Publicado: (2019)

COVID-19 Presenting With Thalamic Hemorrhage Unmasking Moyamoya Angiopathy
por: Ghosh, Ritwik, et al.
Publicado: (2020)

Moyamoya angiopathy: radiological follow-up findings in Finnish patients
por: Savolainen, Marika, et al.
Publicado: (2020)

The role of recessive inheritance in early-onset epileptic encephalopathies: a combined whole-exome sequencing and copy number study
por: Papuc, Sorina M., et al.
Publicado: (2018)

Clinical and experimental evidence suggest a link between KIF7 and C5orf42-related ciliopathies through Sonic Hedgehog signaling
por: Asadollahi, Reza, et al.
Publicado: (2018)

Genetic and Proteomic Contributions to the Pathophysiology of Moyamoya Angiopathy and Related Vascular Diseases
por: Dorschel, Kirsten B, et al.
Publicado: (2021)

Myelin damage and cortical atrophy in watershed regions in patients with moyamoya angiopathy
por: Filimonova, Elena, et al.
Publicado: (2022)

Aneurysm Associated with Moyamoya Angiopathy: Indian Perspective and Review of Management Strategies
por: Das, Shambaditya, et al.
Publicado: (2022)

Further corroboration of distinct functional features in SCN2A variants causing intellectual disability or epileptic phenotypes
por: Begemann, Anaïs, et al.
Publicado: (2019)

Moyamoya angiopathy: long-term follow-up study in a Finnish population
por: Savolainen, Marika, et al.
Publicado: (2018)

Profile of precipitating factors and its implication in 160 Indian patients with Moyamoya angiopathy
por: Das, Shambaditya, et al.
Publicado: (2022)

Modified pedicled temporoparietal fascial flap combined revascularization in adult moyamoya angiopathy
por: Zhang, Wenchao, et al.
Publicado: (2022)

Arterial spin labeling for moyamoya angiopathy: A preoperative and postoperative evaluation method
por: Yuxue, Sun, et al.
Publicado: (2023)

Vascular Remodeling in Moyamoya Angiopathy: From Peripheral Blood Mononuclear Cells to Endothelial Cells
por: Tinelli, Francesca, et al.
Publicado: (2020)

Synthetic Protein Scaffolds Based on Peptide Motifs and Cognate Adaptor Domains for Improving Metabolic Productivity
por: Horn, Anselm H. C., et al.
Publicado: (2015)

Pathogenic SCN2A variants cause early-stage dysfunction in patient-derived neurons
por: Asadollahi, R, et al.
Publicado: (2023)

Stability of single and double layer fibrillar amyloid-β oligomers
por: Kahler, Anna, et al.
Publicado: (2013)

Is the novel amyloid-β tetramer fold a stable conformation?
por: Socher, Eileen, et al.
Publicado: (2013)

Is there a sodium effect in fibrillar amyloid-β oligomers?
por: Horn, Anselm HC, et al.
Publicado: (2014)

Preoperative Collateral Perfusion Using Arterial Spin Labeling: A Predictor of Surgical Collaterals in Moyamoya Angiopathy
por: Wang, Maoxue, et al.
Publicado: (2022)

Validation of the Berlin Grading System for moyamoya angiopathy with the use of [(15)O]H(2)O PET
por: Mertens, R., et al.
Publicado: (2022)

Physiological and pathophysiological mechanisms of the molecular and cellular biology of angiogenesis and inflammation in moyamoya angiopathy and related vascular diseases
por: Dorschel, Kirsten B., et al.
Publicado: (2023)

Conformational Stability of Fibrillar Amyloid-Beta Oligomers via Protofilament Pair Formation – A Systematic Computational Study
por: Kahler, Anna, et al.
Publicado: (2013)

Computational Analysis of Histamine Protonation Effects on H(1)R Binding
por: Conrad, Marcus, et al.
Publicado: (2023)

Decreased frontal white-matter diffusion and improved cognitive flexibility after burr-hole surgery in moyamoya angiopathy
por: Calviere, Lionel, et al.
Publicado: (2020)

Impact of COVID-19 pandemic in natural course of Moyamoya Angiopathy: an experience from tertiary-care-center in India
por: Das, Shambaditya, et al.
Publicado: (2021)

Longitudinal angiographic characterization of the efficacy of combined cerebral revascularization using minimally invasive encephalodurosynangiosis in patients with moyamoya angiopathy
por: Lucia, K., et al.
Publicado: (2022)

Interaction of Glycolipids with the Macrophage Surface Receptor Mincle – a Systematic Molecular Dynamics Study
por: Söldner, Christian A., et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_55i5jpa062q217gvjnefili6ei