Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

Gillian Rice, Sehoon Park, Francesco Gavazzi, +60

Human Mutation

Developmental Outcomes of Aicardi Goutières Syndrome

Laura Adang, Francesco Gavazzi, Micaela De Simone, +11

Journal of Child Neurology

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots

Thaís Armangué, Joseph J. Orsini, Asako Takanohashi, +18

Molecular Genetics and Metabolism

PediatricsPathologyDiagnosisAicardi Goutières SyndromeBlood Spots +3

The Diagnostic Yield of Array Comparative Genomic Hybridization Is High Regardless of Severity of Intellectual Disability/Developmental Delay in Children

Stefano D’Arrigo, Francesco Gavazzi, Enrico Alfei, +8

Journal of Child Neurology

Genetic TestingGeneticsDisease Gene IdentificationGenomicsDiagnostic Yield +15

Development of a neurologic severity scale for Aicardi Goutières Syndrome

Laura Adang, Francesco Gavazzi, Abbas F. Jawad, +11

Molecular Genetics and Metabolism

Heart FailureCardiovascular DiseaseDiagnosisNeurologyNeuropathology +4

Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features

Cara Piccoli, Nowa Bronner, Francesco Gavazzi, +12

Pediatric Neurology

CardiomyopathyHeart FailureCardiovascular DiseaseDiagnosisLate-onset Aicardi-goutières Syndrome +3

Newborn screening in metachromatic leukodystrophy – European consensus-based recommendations on clinical management

Lucia Laugwitz, Daphne H. Schoenmakers, Laura Adang, +24

European Journal of Paediatric Neurology

Clinical ManagementEarly DiagnosisNeonatologyNewborn ScreeningClinical Epidemiology +7

Reliability of the Telemedicine Application of the Gross Motor Function Measure-88 in Patients With Leukodystrophy

Francesco Gavazzi, Laura Adang, Amy Waldman, +11

Pediatric Neurology

KinesiologyAssistive TechnologySpinal Cord InjuryRemote Patient MonitoringTelehealth +9

Hematologic abnormalities in Aicardi Goutières Syndrome

Laura Adang, Francesco Gavazzi, Russell D’Aiello, +16

Molecular Genetics and Metabolism

Heart FailureCardiovascular DiseaseHematologyCongenital Heart DefectHematologic Abnormalities +3

Hepatic Involvement in Aicardi-Goutières Syndrome

Francesco Gavazzi, Zachary Cross, Sarah Woidill, +7

Neuropediatrics