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Carlo Fusco

Showing results (21-30 of 148) with videos related to

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Italian Journal of Pediatrics|December 5, 2019
Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case reportCarlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, et al.
Pediatric Neurology|July 9, 2010
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathyDaniele Frattini, Carlo Fusco, Valentina Ucchino, et al.
American Journal of Medical Genetics. Part A|November 16, 2019
IRF2BPL gene variants: One new caseCarlotta Spagnoli, Susanna Rizzi, Grazia G Salerno, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 27, 2011
Acute and chronic corticosteroid treatment of ten patients with paralytic form of Sydenham's choreaCarlo Fusco, Valentina Ucchino, Daniele Frattini, et al.
Seizure|January 7, 2019
Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlationsCarlotta Spagnoli, Daniele Frattini, Susanna Rizzi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 29, 2018
Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old childDaniele Frattini, Elena Pavlidis, Carlotta Spagnoli, et al.
Journal of Child Neurology|November 6, 2008
Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boyCarlo Fusco, Daniele Frattini, Francesco Pisani, et al.
Brain & Development|October 1, 2013
Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutationCarlo Fusco, Angelo Russo, Federica Invernizzi, et al.
Children (Basel, Switzerland)|May 27, 2023
A Novel Family with Demyelinating Charcot-Marie-Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the LiteratureMargherita Baga, Susanna Rizzi, Carlotta Spagnoli, et al.
Italian Journal of Pediatrics|January 22, 2021
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensusCarlo Fusco, Vincenzo Leuzzi, Pasquale Striano, et al.
Pageof 15

Showing results (21-30 of 148) with videos related to

Sort By:
Pageof 15
Italian Journal of Pediatrics|December 5, 2019
Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case reportCarlotta Spagnoli, Susanna Rizzi, Grazia Gabriella Salerno, et al.
Pediatric Neurology|July 9, 2010
Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathyDaniele Frattini, Carlo Fusco, Valentina Ucchino, et al.
American Journal of Medical Genetics. Part A|November 16, 2019
IRF2BPL gene variants: One new caseCarlotta Spagnoli, Susanna Rizzi, Grazia G Salerno, et al.
European Journal of Paediatric Neurology : EJPN : Official Journal of the European Paediatric Neurology Society|December 27, 2011
Acute and chronic corticosteroid treatment of ten patients with paralytic form of Sydenham's choreaCarlo Fusco, Valentina Ucchino, Daniele Frattini, et al.
Seizure|January 7, 2019
Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlationsCarlotta Spagnoli, Daniele Frattini, Susanna Rizzi, et al.
Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology|June 29, 2018
Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old childDaniele Frattini, Elena Pavlidis, Carlotta Spagnoli, et al.
Journal of Child Neurology|November 6, 2008
Isolated vitamin E deficiency mimicking distal hereditary motor neuropathy in a 13-year-old boyCarlo Fusco, Daniele Frattini, Francesco Pisani, et al.
Brain & Development|October 1, 2013
Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutationCarlo Fusco, Angelo Russo, Federica Invernizzi, et al.
Children (Basel, Switzerland)|May 27, 2023
A Novel Family with Demyelinating Charcot-Marie-Tooth Disease Caused by a Mutation in the PMP2 Gene: A Case Series of Nine Patients and a Brief Review of the LiteratureMargherita Baga, Susanna Rizzi, Carlotta Spagnoli, et al.
Italian Journal of Pediatrics|January 22, 2021
Aromatic L-amino Acid Decarboxylase (AADC) deficiency: results from an Italian modified Delphi consensusCarlo Fusco, Vincenzo Leuzzi, Pasquale Striano, et al.
Pageof 15