Susanna Rizzi

发表

Outcome after hemispherotomy in patients with intractable epilepsy: Comparison of techniques in the Italian experience

C. Marras, L. Tassi, C. Barba, 2019, Epilepsy & Behavior.

“Neuropsychological and behavioral disorders as presentation symptoms in two brothers with early-infantile Niemann-Pick type C”

Andrea Zangrandi, C. Spagnoli, F. Pisani, 2020, Acta bio-medica : Atenei Parmensis.

SPG6 (NIPA1 variant): A report of a case with early-onset complex hereditary spastic paraplegia and brief literature review

C. Spagnoli, C. Fusco, J. Koskenvuo, 2021, Journal of Clinical Neuroscience.

Paediatric‐onset hereditary spastic paraplegias: a retrospective cohort study

C. Spagnoli, F. Pisani, C. Fusco, 2020, Developmental medicine and child neurology.

Paroxysmal movement disorder with response to carbamazepine in a patient with RHOBTB2 developmental and epileptic encephalopathy.

L. Garavelli, C. Spagnoli, F. Pisani, 2020, Parkinsonism & related disorders.

Infantile-Onset Charcot–Marie–Tooth Disease With Pyramidal Features and White Matter Abnormalities Due to a De novo MORC2 Gene Variant: A Case Report and Brief Review of the Literature

C. Spagnoli, F. Pisani, C. Fusco, 2021, Frontiers in Neurology.

Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy

L. Cimino, C. Spagnoli, C. Fusco, 2020, Cerebellum.

Clinical Features in Aromatic L-Amino Acid Decarboxylase (AADC) Deficiency: A Systematic Review

C. Spagnoli, F. Pisani, C. Fusco, 2022, Behavioural neurology.

Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review

L. Garavelli, R. Pascarella, C. Spagnoli, 2020, American journal of medical genetics. Part A.

Biallelic SZT2 mutation with early onset of focal status epilepticus: Useful diagnostic clues other than epilepsy, intellectual disability and macrocephaly

C. Spagnoli, C. Fusco, Susanna Rizzi, 2019, Seizure.

Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum

M. Tartaglia, L. Garavelli, R. Guerrini, 2021, Genes.

Long-term follow-up until early adulthood in autosomal dominant, complex SPG30 with a novel KIF1A variant: a case report

C. Spagnoli, C. Fusco, Susanna Rizzi, 2019, Italian Journal of Pediatrics.

Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurologic phenotype

C. Spagnoli, C. Fusco, Susanna Rizzi, 2019, Neuromuscular Disorders.

Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy

L. Cimino, C. Spagnoli, C. Fusco, 2020, The Cerebellum.

Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report

C. Spagnoli, C. Fusco, J. Koskenvuo, 2022, American journal of medical genetics. Part A.

Pharmacological Treatment of Severe Breathing Abnormalities in a Case of HNRNPU Epileptic Encephalopathy

C. Spagnoli, C. Fusco, J. Koskenvuo, 2021, Molecular Syndromology.

Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding

L. Garavelli, R. Pascarella, O. Zuffardi, 2020, neurogenetics.

Long-term follow-up in infantile-onset SCAR18: A case report

C. Spagnoli, F. Pisani, C. Fusco, 2020, Journal of Clinical Neuroscience.

New biallelic GBA2 variant in a patient with SPG46

C. Spagnoli, C. Fusco, Susanna Rizzi, 2020, Clinical Neurology and Neurosurgery.

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 Literature

C. Spagnoli, C. Fusco, Susanna Rizzi, 2023, Children.

Case report: Expanding the phenotype of FOXP1-related intellectual disability syndrome and hyperkinetic movement disorder in differential diagnosis with epileptic seizures

M. Tartaglia, L. Garavelli, C. Spagnoli, 2023, Frontiers in neurology.

Further delineation of PIGB-related early infantile epileptic encephalopathy.

C. Spagnoli, F. Pisani, C. Fusco, 2021, European journal of medical genetics.

A Novel De Novo KIF21A Variant in a Patient With Congenital Fibrosis of the Extraocular Muscles With a Syndromic CFEOM Phenotype.

C. Spagnoli, C. Fusco, J. Koskenvuo, 2020, Journal of neuro-ophthalmology : the official journal of the North American Neuro-Ophthalmology Society.

Panhypopituitarism, a Cause of Early Sudden Infant Death Syndrome?

Susanna Rizzi, C. Magnani, F. Ormitti, 2012 .

Severe Neurodevelopmental Disorder in Autosomal Recessive Spinocerebellar Ataxia 13 (SCAR13) Caused by Two Novel Frameshift Variants in GRM1.

C. Spagnoli, C. Fusco, Susanna Rizzi, 2023, Cerebellum.

Expanding Phenotype of SYT1-Related Neurodevelopmental Disorder: Case Report and Literature Review

C. Spagnoli, C. Fusco, M. Pollazzon, 2023, Molecular Syndromology.

Patterns and predictors of language representation and the influence of epilepsy surgery on language reorganization in children and young adults with focal lesional epilepsy

D. Montanaro, C. Barba, A. Cherubini, 2020, PloS one.

‘A novel TRIP4 Variant Associated with Peripheral Neuropathy: Expanding the Clinical and Genetic Spectrum of ASC1-Related Myopathy’

C. Spagnoli, C. Fusco, M. Pollazzon, 2023, Journal of Neuromuscular Diseases.

Tick-Borne Encephalitis in a 6-Year-Old Patient: A Case Report

C. Spagnoli, C. Fusco, Susanna Rizzi, 2023, The Neurohospitalist.