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Pediatric Neurology|May 13, 2009
Seizures versus dystonia in encephalopathic crisis of glutaric aciduria type IAlfredo Cerisola, Jaume Campistol, Belén Pérez-Dueñas, et al.
Medicina|September 15, 2023
[Venous and cerebral sinus thrombosis in newborns and children]Ricardo Mora, Luis Ibarra, Valentina Olivera, et al.
Frontiers in Pediatrics|May 16, 2024
Two compound heterozygous variants in the CLN8 gene are responsible for neuronal cereidolipofuscinoses disorder in a child: a case reportFederico Baltar, Camila Simoes, Francisco Garagorry, et al.
Movement Disorders Clinical Practice|November 20, 2023
Exploring the Spectrum of RHOBTB2 Variants Associated with Developmental Encephalopathy 64: A Case Series and Literature ReviewSonia de Pedro Baena, Andrea Sariego Jamardo, Pedro Castro, et al.
Mitochondrion|March 29, 2016
3697G>A in MT-ND1 is a causative mutation in mitochondrial diseaseLucía Spangenberg, Martín Graña, Gonzalo Greif, et al.
Mitochondrion|September 18, 2021
Blood cell respiration rates and mtDNA copy number: A promising tool for the diagnosis of mitochondrial diseaseMartina Alonso, Cristina Zabala, Santiago Mansilla, et al.
Human Genomics|February 28, 2023
Computational and mitochondrial functional studies of novel compound heterozygous variants in SPATA5 gene support a causal link with epileptogenic encephalopathyVíctor Raggio, Martín Graña, Erik Winiarski, et al.
Neurology. Genetics|September 25, 2025
Deep Intronic SVA_E Insertion Identified as the Most Common Pathogenic Variant Associated With Canavan Disease: A Diagnostic Blind SpotCarlos A Dominguez Gonzalez, Katrina M Bell, Ramakrishnan Rajagopalan, et al.
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