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Journal of Human Genetics
|
March 31, 2021
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation
Davide Tonduti, Eleonora Mura, Silvia Masnada, et al.
Brain and Behavior
|
February 5, 2019
Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome
Valentina De Giorgis, Silvia Masnada, Costanza Varesio, et al.
Seizure
|
February 16, 2021
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings
Valentina De Giorgis, Costanza Varesio, Maurizio Viri, et al.
Frontiers in Immunology
|
May 13, 2021
Case Report: Novel Compound Heterozygous <i>RNASEH2B</i> Mutations Cause Aicardi-Goutières Syndrome
Jessica Garau, Silvia Masnada, Francesca Dragoni, et al.
Metabolic Brain Disease
|
March 15, 2021
Ruxolitinib in Aicardi-Goutières syndrome
Eleonora Mura, Silvia Masnada, Clara Antonello, et al.
Seizure
|
September 19, 2025
Prediction of evolution to epilepsy or genetic epilepsy with febrile seizures plus (GEFS+) in children presenting with febrile seizures: a retrospective multicenter longitudinal study
Pietro Baso, Silvia Masnada, Monica Maria Lodi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
April 12, 2023
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
Silvia Masnada, Roberto Previtali, Paola Erba, et al.
European Journal of Clinical Nutrition
|
May 15, 2020
Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis
Simona Bertoli, Silvia Masnada, Ramona De Amicis, et al.
Pediatric Neurology
|
December 11, 2020
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features
Cara Piccoli, Nowa Bronner, Francesco Gavazzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 18, 2020
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency
Silvia Masnada, Cecilia Parazzini, Paolo Bini, et al.
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Search research articles
Search
Showing results (11-20 of 36) with videos related to
Sort By:
Page
of 4
Journal of Human Genetics
|
March 31, 2021
Spinal cord involvement and paroxysmal events in "Infantile Onset Transient Hypomyelination" due to TMEM63A mutation
Davide Tonduti, Eleonora Mura, Silvia Masnada, et al.
Brain and Behavior
|
February 5, 2019
Overall cognitive profiles in patients with GLUT1 Deficiency Syndrome
Valentina De Giorgis, Silvia Masnada, Costanza Varesio, et al.
Seizure
|
February 16, 2021
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings
Valentina De Giorgis, Costanza Varesio, Maurizio Viri, et al.
Frontiers in Immunology
|
May 13, 2021
Case Report: Novel Compound Heterozygous <i>RNASEH2B</i> Mutations Cause Aicardi-Goutières Syndrome
Jessica Garau, Silvia Masnada, Francesca Dragoni, et al.
Metabolic Brain Disease
|
March 15, 2021
Ruxolitinib in Aicardi-Goutières syndrome
Eleonora Mura, Silvia Masnada, Clara Antonello, et al.
Seizure
|
September 19, 2025
Prediction of evolution to epilepsy or genetic epilepsy with febrile seizures plus (GEFS+) in children presenting with febrile seizures: a retrospective multicenter longitudinal study
Pietro Baso, Silvia Masnada, Monica Maria Lodi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology
|
April 12, 2023
FDXR-associated disease: a challenging differential diagnosis with inflammatory peripheral neuropathy
Silvia Masnada, Roberto Previtali, Paola Erba, et al.
European Journal of Clinical Nutrition
|
May 15, 2020
Glucose transporter 1 deficiency syndrome: nutritional and growth pattern phenotypes at diagnosis
Simona Bertoli, Silvia Masnada, Ramona De Amicis, et al.
Pediatric Neurology
|
December 11, 2020
Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features
Cara Piccoli, Nowa Bronner, Francesco Gavazzi, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society
|
August 18, 2020
Phenotypic spectrum of short-chain enoyl-Coa hydratase-1 (ECHS1) deficiency
Silvia Masnada, Cecilia Parazzini, Paolo Bini, et al.
Page
of 4