G. Salerno

发表

Expanding phenotype of PRRT2 gene mutations: A new case with epilepsy and benign myoclonus of early infancy.

C. Spagnoli, C. Fusco, A. Iodice, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum

L. Veneziano, N. Mencacci, B. Garavaglia, 2019, Brain and Development.

“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.

Hereditary neuropathy with liability to pressure palsy (HNPP): report of a family with a new point mutation in PMP22 gene

E. Pavlidis, C. Spagnoli, F. Pisani, 2017, Italian Journal of Pediatrics.

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.

CMV-associated axonal sensory-motor Guillain-Barré syndrome in a child: Case report and review of the literature.

C. Spagnoli, F. Pisani, C. Fusco, 2016, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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.

Charcot-Marie-Tooth disease with pyramidal features due to a new mutation of EGR2 gene.

E. Pavlidis, C. Spagnoli, F. Pisani, 2019, Acta bio-medica : Atenei Parmensis.

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

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

New phenotype and neonatal onset of sodium channel myotonia in a child with a novel mutation of SCN4A gene

L. Maggi, C. Fusco, P. Bernasconi, 2015, Brain and Development.

Case of Congenital Paramyotonia with Atypical Features in a Family with a New Variation of SCN 4 A Gene

E. Pavlidis, C. Spagnoli, Pisani, 2018 .

Co-occurrence of an HSPG2 Missense Variant and Functional Polymorphisms in Atypical Schwartz–Jampel Syndrome Type 1 with Obesity: A Case Report

E. Pavlidis, C. Spagnoli, C. Fusco, 2018, Journal of Pediatric 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.

On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure

C. Spagnoli, C. Fusco, G. Salerno, 2018, Genetics in Medicine.

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.

Hereditary neuropathy with liability to pressure palsies in childhood: Case series and literature update

C. Spagnoli, C. Fusco, A. Iodice, 2016, Neuromuscular Disorders.

Refining the mutational spectrum and gene–phenotype correlates in pontocerebellar hypoplasia: results of a multicentric study

E. Bertini, R. Borgatti, T. Mazza, 2021, Journal of Medical Genetics.

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.

On CALFAN syndrome: report of a patient with a novel variant in SCYL1 gene and recurrent respiratory failure

C. Spagnoli, C. Fusco, G. Salerno, 2018, Genetics in Medicine.

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.

RNASEH2B Pathogenic Gene Variant in Uncomplicated Hereditary Spastic Paraplegia: Report of a New Patient

C. Spagnoli, C. Fusco, G. Salerno, 2018, Neuropediatrics.

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

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

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis

C. Spagnoli, F. Pisani, C. Fusco, 2017, Brain and Development.

Vagus nerve stimulation during pregnancy: an instructive case

Alessandro Cecchi, C. Passamonti, N. Zamponi, 2015, Child's Nervous System.

Long-term follow-up in spastic paraplegia due to SPG56/CYP2U1: age-dependency rather than genetic variability?

B. Garavaglia, C. Spagnoli, C. Fusco, 2017, Journal of Neurology.

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

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

Steroids efficacy in the acute management of seizure clusters in one case of PCDH19 female epilepsy

C. Spagnoli, C. Fusco, A. Iodice, 2015, Seizure.

Refractory absence seizures: An Italian multicenter retrospective study.

P. Striano, C. Cottone, P. Curatolo, 2015, European journal of paediatric neurology.

New biallelic GBA2 variant in a patient with SPG46

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

Two Cases of KNQ2 Encephalopathy with Unusual Findings: Clinical and Neurophysiological Follow-Up

C. Spagnoli, C. Fusco, G. Salerno, 2016 .

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.

Infantile neuroaxonal dystrophy and PLA2G6-associated neurodegeneration: An update for the diagnosis

C. Spagnoli, F. Pisani, C. Fusco, 2017, Brain and Development.