Artiklar med krav på offentlig åtkomst - Adeline VanderverLäs mer
TotaltNIHFRQSCIHRNHMRCGenome CanadaZonMwNIHRMRCEuropean CommissionGovernment of ItalyWellcomeARCDFGTelethonINSERMNWOBBSRCGovernment of SpainPCORIMedical Research Future Fund, AustraliaHHMIFWOCancer Research UKANRBMBFNSFSNSFDoDBanking Foundation "la Caixa"ESRCFondazione CariploMultiple Sclerosis Society of CanadaAIRC Foundation for Cancer Research in ItalyBrain Research, UKJules Thorn Trust, UKCZI
Inte tillgängliga någonstans: 10
Update on leukodystrophies: a historical perspective and adapted definition
SH Kevelam, ME Steenweg, S Srivastava, G Helman, S Naidu, ...
Neuropediatrics 47 (06), 349-354, 2016
Krav: Netherlands Organisation for Health Research and Development
Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies
RL Piana, D Tonduti, HG Dressman, JL Schmidt, J Murnick, B Brais, ...
Journal of child neurology 29 (2), 214-220, 2014
Krav: Fonds de recherche du Québec - Santé
Self-supervised test-time adaptation for medical image segmentation
H Li, H Liu, D Hu, J Wang, H Johnson, O Sherbini, F Gavazzi, R D’Aiello, ...
International Workshop on Machine Learning in Clinical Neuroimaging, 32-41, 2022
Krav: US National Institutes of Health
Human brain extraction with deep learning
H Li, Q Zhu, D Hu, MR Gunnala, H Johnson, O Sherbini, F Gavazzi, ...
Medical Imaging 2022: Image Processing 12032, 369-375, 2022
Krav: US National Institutes of Health
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
LA Adang, A Sevagamoorthy, O Sherbini, JL Fraser, JL Bonkowsky, ...
Molecular genetics and metabolism, 108453, 2024
Krav: US National Institutes of Health
Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS)
IP de Barcelos, S Woidill, F Gavazzi, NB Modesti, A Sevagamoorthy, ...
Molecular Genetics and Metabolism 142 (1), 108346, 2024
Krav: National Institute for Health Research, UK
The natural history of variable subtypes in pediatric-onset TUBB4A-related leukodystrophy
F Gavazzi, B Charsar, E Hamilton, JA Erler, V Patel, S Woidill, ...
Molecular Genetics and Metabolism 144 (3), 109048, 2025
Krav: Fonds de recherche du Québec - Santé
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy
LA Adang, S Groeschel, C Grzyb, R D'Aiello, F Gavazzi, O Sherbini, ...
Molecular genetics and metabolism 142 (4), 108521, 2024
Krav: Fonds de recherche du Québec - Santé
Approaches to diagnosis for individuals with a suspected inherited white matter disorder
G Helman, JL Orthmann-Murphy, A Vanderver
Handbook of Clinical Neurology 204, 21-35, 2024
Krav: US National Institutes of Health
Adulthood leukodystrophies
KA Wolfgang, J Curiel, A Vanderver
Nature Reviews Neurology 14 (2), 94-106, 2018
Krav: Federal Ministry of Education and Research, Germany
Tillgängliga någonstans: 196
Mutations in ADAR1 cause Aicardi-Goutières syndrome associated with a type I interferon signature
GI Rice, PR Kasher, GMA Forte, NM Mannion, SM Greenwood, ...
Nature genetics 44 (11), 1243-1248, 2012
Krav: US National Institutes of Health
Mutations involved in Aicardi-Goutieres syndrome implicate SAMHD1 as regulator of the innate immune response
GI Rice, J Bond, A Asipu, RL Brunette, IW Manfield, IM Carr, JC Fuller, ...
Nature genetics 41 (7), 829-832, 2009
Krav: US National Institutes of Health
Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
YJ Crow, DS Chase, J Lowenstein Schmidt, M Szynkiewicz, GMA Forte, ...
American journal of medical genetics Part A 167 (2), 296-312, 2015
Krav: US National Institutes of Health, European Commission
Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling
GI Rice, Y del Toro Duany, EM Jenkinson, GMA Forte, BH Anderson, ...
Nature genetics 46 (5), 503-509, 2014
Krav: US National Institutes of Health, National Institute for Health Research, UK …
Clinical and molecular phenotype of Aicardi-Goutieres syndrome
G Rice, T Patrick, R Parmar, CF Taylor, A Aeby, J Aicardi, R Artuch, ...
The American Journal of Human Genetics 81 (4), 713-725, 2007
Krav: Cancer Research UK
Assessment of interferon-related biomarkers in Aicardi-Goutières syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study
GI Rice, GMA Forte, M Szynkiewicz, DS Chase, A Aeby, MS Abdel-Hamid, ...
The lancet neurology 12 (12), 1159-1169, 2013
Krav: US National Institutes of Health, European Commission
Ubiquitous L1 mosaicism in hippocampal neurons
KR Upton, DJ Gerhardt, JS Jesuadian, SR Richardson, ...
Cell 161 (2), 228-239, 2015
Krav: National Health and Medical Research Council, Australia, Wellcome Trust
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
LJC Wong, RK Naviaux, N Brunetti‐Pierri, Q Zhang, ES Schmitt, C Truong, ...
Human mutation 29 (9), E150-E172, 2008
Krav: US National Institutes of Health
Magnetic resonance imaging pattern recognition in hypomyelinating disorders
ME Steenweg, A Vanderver, S Blaser, A Bizzi, TJ De Koning, ...
Brain 133 (10), 2971-2982, 2010
Krav: US National Institutes of Health
Associations of paediatric demyelinating and encephalitic syndromes with myelin oligodendrocyte glycoprotein antibodies: a multicentre observational study
T Armangue, G Olivé-Cirera, E Martínez-Hernandez, M Sepulveda, ...
The Lancet Neurology 19 (3), 234-246, 2020
Krav: Banking Foundation "la Caixa", Government of Spain
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