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BMJ Case Reports|February 16, 2018
Biopsy-proven multiple sclerosis in an adult patient with atypical craniometaphyseal dysplasiaJacopo C DiFrancesco, Giuseppe Isimbaldi, Maria Francesca Bedeschi, et al.
Frontiers in Neurology|August 7, 2023
Case report: A novel pathogenic FRMD7 variant in a Turner syndrome patient with familial idiopathic infantile nystagmusSara Hafdaoui, Claudia Ciaccio, Barbara Castellotti, et al.
Neuropediatrics|June 4, 2014
Refractory absence epilepsy and glut1 deficiency syndrome: a new case report and literature reviewFrancesca Ragona, Sara Matricardi, Barbara Castellotti, et al.
Journal of Child Neurology|April 12, 2008
Ataxia with oculomotor apraxia type 1 (AOA1): clinical and neuropsychological features in 2 new patients and differential diagnosisStefano D'Arrigo, Daria Riva, Sara Bulgheroni, et al.
Neurogenetics|August 19, 2007
Frataxin gene point mutations in Italian Friedreich ataxia patientsCinzia Gellera, Barbara Castellotti, Caterina Mariotti, et al.
Parkinsonism & Related Disorders|May 3, 2011
Paroxysmal exercise-induced dyskinesia with self-limiting partial epilepsy: a novel GLUT-1 mutation with benign phenotypeTommaso Bovi, Alfonso Fasano, Ina Juergenson, et al.
Neurosci|May 27, 2026
ARFGEF2-Related Periventricular Nodular Heterotopia: A Case Report and Literature ReviewLuca Andreoli, Davide Caputo, Fabio M Doniselli, et al.
Neurogenetics|December 19, 2007
Identification of new ANG gene mutations in a large cohort of Italian patients with amyotrophic lateral sclerosisCinzia Gellera, Claudia Colombrita, Nicola Ticozzi, et al.
Frontiers in Neuroscience|July 17, 2023
Case report: SLC6A1 mutations presenting with isolated absence seizures: description of 2 novel casesDavide Caputo, Silvana Franceschetti, Barbara Castellotti, et al.
Pediatric Neurology|July 6, 2014
Hyperargininemia: 7-month follow-up under sodium benzoate therapy in an Italian child presenting progressive spastic paraparesis, cognitive decline, and novel mutation in ARG1 geneGiovanni Baranello, Enrico Alfei, Diego Martinelli, et al.
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