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Frontiers in Genetics|December 23, 2024
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenitaSabrina Lucchiari, Francesco Fortunato, Giovanni Meola, et al.
Journal of Neurology|March 22, 2017
The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: redefinition and evidence of new markers of disease progressionAndrea Mignarri, Maria Teresa Dotti, Antonio Federico, et al.
Frontiers in Pediatrics|August 9, 2020
Case Report: Early Treatment With Chenodeoxycholic Acid in Cerebrotendinous Xanthomatosis Presenting as Neonatal CholestasisIrene Degrassi, Chiara Amoruso, Giuseppe Giordano, et al.
JIMD Reports|February 23, 2013
Zellweger Spectrum Disorder with Mild Phenotype Caused by PEX2 Gene MutationsAndrea Mignarri, Claudia Vinciguerra, Antonio Giorgio, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|March 21, 2014
Hand muscles corticomotor excitability in hereditary spastic paraparesis type 4Federica Ginanneschi, Maria A Carluccio, Andrea Mignarri, et al.
Calcified Tissue International|December 6, 2012
Long-term bone density evaluation in cerebrotendinous xanthomatosis: evidence of improvement after chenodeoxycholic acid treatmentGiuseppe Martini, Andrea Mignarri, Martina Ruvio, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|August 13, 2021
Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotoniaSara Locci, Rosanna Cardani, Paola Brunori, et al.
Neuromuscular Disorders : NMD|June 2, 2012
The first Italian patient with oculopharyngodistal myopathy: case report and considerations on differential diagnosisAndrea Mignarri, Maria Alessandra Carluccio, Alessandro Malandrini, et al.
Biochemical and Biophysical Research Communications|April 7, 2018
Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW geneElena Cardaioli, Andrea Mignarri, Teresa Anna Cantisani, et al.
European Journal of Neurology|November 11, 2025
Miglustat in Alzheimer's Disease Associated With Heterozygous NPC1 Mutation: Exploratory Case Series and Preliminary FindingsDiego Lopergolo, Daniele Gasparini, Silvia Bianchi, et al.
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