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Pediatric Neurology|October 25, 2023
Lissencephaly With Cerebellar Hypoplasia Due To a New RELN MutationLiliana Igreja, Catarina Menezes, Pedro S Pinto, et al.
Cureus|March 2, 2026
Episodic Ataxia Associated With Synaptosomal-Associated Protein 25 (SNAP25) Variant: Beyond Epilepsy and Developmental DelayInês F Fernandes, Ana Cristina Figueiredo, João Parente Freixo, et al.
Annals of Allergy, Asthma & Immunology : Official Publication of the American College of Allergy, Asthma, & Immunology|February 11, 2024
Hereditary angioedema with normal C1-inhibitor: Clinical and genetic characterization of 15 Portuguese unrelated familiesEunice Dias de Castro, Ana Luísa Pinhal, Mariana Bragança, et al.
Molecular Genetics and Metabolism Reports|November 14, 2024
A novel disease-causing variant associated with a milder phenotype of AARS2-related leukodystrophy - A case reportJoana Fernandes, João Moura, João Tarrio, et al.
Neurogenetics|May 24, 2023
Aberrant Splicing Caused by a Novel VPS16 Variant Linked to Dystonia Type 30Mariana Santos, João Massano, Alexandra Manuel Lopes, et al.
American Journal of Medical Genetics. Part A|January 8, 2022
Congenital heart defects associated with pathogenic variants in WAC gene: Expanding the phenotypic and genotypic spectrum of DeSanto-Shinawi syndromeRita Quental, Daniel Gonçalves, Esmeralda Rodrigues, et al.
Cureus|March 27, 2023
Clinical Role of Codon 87 of the CYFIP2 Gene in Early Infantile Epileptic Encephalopathy: A Clinical Case DescriptionJuliana Da Silva Cardoso, Rita Gomes, Maria Abreu, et al.
Frontiers in Pediatrics|June 30, 2023
Case Report: Patient with deficiency of ADA2 presenting leukocytoclastic vasculitis and pericarditis during infliximab treatmentDiana Simão Raimundo, Ana Isabel Cordeiro, João Parente Freixo, et al.
Neurology|September 15, 2025
Pearls & Oy-sters: Adult-Onset Coats Plus: A Case of Leukoencephalopathy With Calcifications, a Tumefactive Brain Lesion, and a Presumed Autoimmune DiseaseCatarina Serrão, Romana Rodrigues, Carla Leão Guerreiro, et al.
Pediatric Neurology|August 10, 2023
TANGO2 Deficiency Disorder: Two Cases of Developmental Delay Preceding Metabolic CrisisJoana Valente Dias, Ana Araújo Carvalho, João Parente Freixo, et al.
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