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Radiology Case Reports|December 15, 2018
Late adult-onset adrenomyeloneuropathy evolving with atypical severe frontal lobe syndrome: Importance of neuroimagingClemente Dato, Guglielmo Capaldo, Chiara Terracciano, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|July 22, 2018
Predictors of survival in spinocerebellar ataxia type 2 population from Southern ItalyAntonella Antenora, Dario Bruzzese, Maria Lieto, et al.
Neuromuscular Disorders : NMD|March 5, 2017
Late onset of neutral lipid storage disease due to novel PNPLA2 mutations causing total loss of lipase activity in a patient with myopathy and slight cardiac involvementSara Missaglia, Lorenzo Maggi, Marina Mora, et al.
Annals of Clinical and Translational Neurology|June 5, 2024
SCAR32: Functional characterization and expansion of the clinical-genetic spectrumValentina Naef, Maria Lieto, Sara Satolli, et al.
Molecular Medicine (Cambridge, Mass.)|November 13, 2002
Human mitochondrial transcription factor A reduction and mitochondrial dysfunction in Hashimoto's hypothyroid myopathyGabriele Siciliano, Fabio Monzani, Maria Laura Manca, et al.
Biochemical and Biophysical Research Communications|April 1, 2009
Assaying ATP synthesis in cultured cells: a valuable tool for the diagnosis of patients with mitochondrial disordersTeresa Rizza, Martha Elisa Vazquez-Memije, Maria Chiara Meschini, et al.
Multiple Sclerosis and Related Disorders|June 23, 2020
A new paraplegin mutation in a patient with primary progressive multiple sclerosisAngelo Bellinvia, Luisa Pastò, Claudia Niccolai, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|September 2, 2024
Charcot-Marie-Tooth type 2CC misdiagnosed as Chronic Inflammatory Demyelinating PolyradiculoneuropathyIsabella Di Sarno, Stefano Tozza, Filippo Maria Santorelli, et al.
European Child & Adolescent Psychiatry|July 31, 2015
Temporal lobe connects regression and macrocephaly to autism spectrum disordersGiulia Valvo, Sara Baldini, Alessandra Retico, et al.
Research in Developmental Disabilities|August 11, 2015
Reading impairment in Duchenne muscular dystrophy: A pilot study to investigate similarities and differences with developmental dyslexiaGuja Astrea, Chiara Pecini, Filippo Gasperini, et al.
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