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Susanna Rizzi

Showing results (1-10 of 54) with videos related to

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Behavioural Neurology|October 21, 2022
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic ReviewSusanna Rizzi, Carlotta Spagnoli, Daniele Frattini, et al.
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.
American Journal of Medical Genetics. Part A|November 16, 2019
IRF2BPL gene variants: One new caseCarlotta Spagnoli, Susanna Rizzi, Grazia G Salerno, et al.
Seizure|January 7, 2019
Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlationsCarlotta Spagnoli, Daniele Frattini, Susanna Rizzi, 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.
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.
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.
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.
Pageof 6

Showing results (1-10 of 54) with videos related to

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Pageof 6
Behavioural Neurology|October 21, 2022
Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic ReviewSusanna Rizzi, Carlotta Spagnoli, Daniele Frattini, et al.
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.
American Journal of Medical Genetics. Part A|November 16, 2019
IRF2BPL gene variants: One new caseCarlotta Spagnoli, Susanna Rizzi, Grazia G Salerno, et al.
Seizure|January 7, 2019
Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlationsCarlotta Spagnoli, Daniele Frattini, Susanna Rizzi, 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.
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.
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.
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.
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