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Carlo Fusco

Showing results (31-40 of 148) with videos related to

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Brain & Development|May 8, 2014
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case reportDaniele Frattini, Nardo Nardocci, Rosario Pascarella, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|September 8, 2023
Posterior Cranial Fossa Malformation and Vascular Dysplasia in GJB2 Gene MutationCarlo Alberto Cesaroni, Manuela Napoli, Carlotta Spagnoli, et al.
Neuromuscular Disorders : NMD|December 3, 2019
Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotypeGaia Scarpini, Carlotta Spagnoli, Grazia Gabriella Salerno, et al.
Italian Journal of Pediatrics|October 29, 2017
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 geneCarlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, et al.
Brain & Development|March 5, 2015
New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A geneCarlo Fusco, Daniele Frattini, Grazia Gabriella Salerno, et al.
Neuromuscular Disorders : NMD|May 4, 2016
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature updateCarlotta Spagnoli, Alessandro Iodice, Grazia Gabriella Salerno, et al.
American Journal of Medical Genetics. Part A|July 26, 2022
Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case reportCarlotta Spagnoli, Grazia G Salerno, Susanna Rizzi, et al.
Clinical Neurology and Neurosurgery|January 20, 2020
New biallelic GBA2 variant in a patient with SPG46Carlotta Spagnoli, Silvia Schiavoni, Susanna Rizzi, et al.
Seizure|May 31, 2019
Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephalyAlessandro Iodice, Carlotta Spagnoli, Daniele Frattini, et al.
Journal of Child Neurology|March 2, 2012
Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutationCarlo Fusco, Daniele Frattini, Enrico Farnetti, et al.
Pageof 15

Showing results (31-40 of 148) with videos related to

Sort By:
Pageof 15
Brain & Development|May 8, 2014
Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: a case reportDaniele Frattini, Nardo Nardocci, Rosario Pascarella, et al.
The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques|September 8, 2023
Posterior Cranial Fossa Malformation and Vascular Dysplasia in GJB2 Gene MutationCarlo Alberto Cesaroni, Manuela Napoli, Carlotta Spagnoli, et al.
Neuromuscular Disorders : NMD|December 3, 2019
Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotypeGaia Scarpini, Carlotta Spagnoli, Grazia Gabriella Salerno, et al.
Italian Journal of Pediatrics|October 29, 2017
Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 geneCarlo Fusco, Carlotta Spagnoli, Grazia Gabriella Salerno, et al.
Brain & Development|March 5, 2015
New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A geneCarlo Fusco, Daniele Frattini, Grazia Gabriella Salerno, et al.
Neuromuscular Disorders : NMD|May 4, 2016
Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature updateCarlotta Spagnoli, Alessandro Iodice, Grazia Gabriella Salerno, et al.
American Journal of Medical Genetics. Part A|July 26, 2022
Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case reportCarlotta Spagnoli, Grazia G Salerno, Susanna Rizzi, et al.
Clinical Neurology and Neurosurgery|January 20, 2020
New biallelic GBA2 variant in a patient with SPG46Carlotta Spagnoli, Silvia Schiavoni, Susanna Rizzi, et al.
Seizure|May 31, 2019
Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephalyAlessandro Iodice, Carlotta Spagnoli, Daniele Frattini, et al.
Journal of Child Neurology|March 2, 2012
Very early onset and severe complicated phenotype caused by a new spastic paraplegia 3A gene mutationCarlo Fusco, Daniele Frattini, Enrico Farnetti, et al.
Pageof 15