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Metabolic Brain Disease|July 24, 2019
Novel mutations in SLC16A2 associated with a less severe phenotype of MCT8 deficiencySilvia Masnada, Stefan Groenweg, Veronica Saletti, et al.
Pediatric Neurology|August 5, 2023
Repetitive Sleep Starts in Allan-Herndon-Dudley SyndromeRoberta Solazzi, Giuliana Nanni, Silvia Esposito, et al.
Epilepsy & Behavior Reports|May 6, 2022
Successful use of perampanel in GABRA1-related myoclonic epilepsy with photosensitivitySara Olivotto, Anna Freddi, Rossella Lavatelli, et al.
Seizure|March 16, 2017
Alternating Hemiplegia and Epilepsia Partialis Continua: A new phenotype for a novel compound TBC1D24 mutationFrancesca Ragona, Barbara Castellotti, Barbara Salis, et al.
Neurobiology of Aging|March 20, 2012
ATAXIN2 CAG-repeat length in Italian patients with amyotrophic lateral sclerosis: risk factor or variant phenotype? Implication for genetic testing and counselingCinzia Gellera, Nicola Ticozzi, Viviana Pensato, et al.
Brain Communications|September 25, 2025
Impact of age on neurofilament light chain in Friedreich ataxia: a 1-year longitudinal studySara Petrillo, Alessia Mongelli, Anna Castaldo, et al.
Epileptic Disorders : International Epilepsy Journal with Videotape|April 18, 2020
Early Parkinsonism in a Senegalese girl with Lafora diseaseFrancesca Ragona, Laura Canafoglia, Barbara Castellotti, et al.
Movement Disorders Clinical Practice|February 13, 2019
Substantia Nigra Swelling and Dentate Nucleus T2 Hyperintensity May Be Early Magnetic Resonance Imaging Signs of β-Propeller Protein-Associated NeurodegenerationCamilla Russo, Anna Ardissone, Elena Freri, et al.
Human Mutation|November 3, 2016
Clinical and Molecular Characteristics of SLC16A2 (MCT8) Mutations in Three Families with the Allan-Herndon-Dudley SyndromeFrancesca Novara, Stefan Groeneweg, Elena Freri, et al.
Brain Research|August 21, 2016
In-vivo brain H1-MR-Spectroscopy identification and quantification of 2-hydroxyglutarate in L-2-Hydroxyglutaric aciduriaElena Anghileri, Nicola Bertolino, Ettore Salsano, et al.
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