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Pharmacological Research|January 7, 2019
Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gateAlessandro Farinato, Concetta Altamura, Paola Imbrici, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|December 17, 2018
Italian recommendations for diagnosis and management of congenital myasthenic syndromesLorenzo Maggi, Pia Bernasconi, Adele D'Amico, et al.
Journal of Human Genetics|June 7, 2013
A large cohort of myotonia congenita probands: novel mutations and a high-frequency mutation region in exons 4 and 5 of the CLCN1 geneRaffaella Brugnoni, Dimos Kapetis, Paola Imbrici, et al.
Epilepsia Open|June 7, 2019
Therapeutic effect of Anakinra in the relapsing chronic phase of febrile infection-related epilepsy syndromeRobertino Dilena, Eleonora Mauri, Eleonora Aronica, et al.
Immunobiology|July 9, 2016
A novel infection- and inflammation-associated molecular signature in peripheral blood of myasthenia gravis patientsClaudia Barzago, Josephine Lum, Paola Cavalcante, et al.
Biomedicines|January 30, 2020
Circulating MyomiRs as Potential Biomarkers to Monitor Response to Nusinersen in Pediatric SMA PatientsSilvia Bonanno, Stefania Marcuzzo, Claudia Malacarne, et al.
Frontiers in Physiology|February 3, 2015
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) geneMaria C D'Adamo, Constanze Gallenmüller, Ilenio Servettini, et al.
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