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Neuropediatrics|July 26, 2024
Early Diagnosis of AP5Z1/SPG48 Spastic Paraplegia: Case Report and Review of the LiteratureFrancesca M A Papoff, Guja Astrea, Serena Mero, et al.
Developmental Medicine and Child Neurology|May 26, 2017
Phenotype and natural history of variant late infantile ceroid-lipofuscinosis 5Alessandro Simonati, Ruth E Williams, Nardo Nardocci, et al.
Frontiers in Neurology|February 29, 2024
Case report: Exploring chemoradiotherapy-induced leukoencephalopathy with 7T imaging and quantitative susceptibility mappingGaetano Celardo, Elena Scaffei, Bianca Buchignani, et al.
Neuromuscular Disorders : NMD|October 23, 2013
Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemiaChiara Fiorillo, Francesca Moro, Guja Astrea, et al.
American Journal of Medical Genetics. Part A|July 3, 2007
Mental retardation and verbal dyspraxia in a new patient with de novo creatine transporter (SLC6A8) mutationRoberta Battini, Anna Chilosi, Davide Mei, et al.
Metabolites|February 25, 2022
2-Year-Old and 3-Year-Old Italian ALS Patients with Novel <i>ALS2</i> Mutations: Identification of Key Metabolites in Their Serum and PlasmaMukesh Gautam, Renata Del Carratore, Benjamin Helmold, et al.
Seizure|August 29, 2024
Combined generalized and focal epilepsy with reflex features in Adaptor protein complex 4-associated hereditary spastic paraplegias: A cohort observational studyEmanuele Bartolini, Anna Rita Ferrari, Filippo Maria Santorelli, et al.
Frontiers in Neurology|October 6, 2023
Case report: Clinical and neuroradiological longitudinal follow-up in Leukoencephalopathy with Calcifications and Cysts during treatment with bevacizumabElena Scaffei, Bianca Buchignani, Rosa Pasquariello, et al.
Biochimica Et Biophysica Acta|February 24, 2006
Identification of nine new IDS alleles in mucopolysaccharidosis II. Quantitative evaluation by real-time RT-PCR of mRNAs sensitive to nonsense-mediated and nonstop decay mechanismsSusanna Lualdi, Maja Di Rocco, Fabio Corsolini, et al.
Orphanet Journal of Rare Diseases|June 21, 2012
Neuropsychological profile and clinical effects of arginine treatment in children with creatine transport deficiencyAnnamaria Chilosi, Manuela Casarano, Alessandro Comparini, et al.
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