D. Frattini

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.

Outbreak of acute rheumatic fever in northern Italy.

L. Perletti, D. Frattini, G. Bonora, 1989, The Journal of pediatrics.

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

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

Congenital pes cavus in a Charcot-Marie-tooth disease type 1A newborn.

E. Giustina, C. Fusco, D. Frattini, 2009, Pediatric neurology.

“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.

Very Early Onset and Severe Complicated Phenotype Caused by a New Spastic Paraplegia 3A Gene Mutation

E. Giustina, C. Fusco, D. Nicoli, 2012, Journal of child neurology.

Hereditary spastic paraplegia and axonal motor neuropathy caused by a novel SPG3A de novo mutation

E. Giustina, C. Fusco, F. Fiorentino, 2010, Brain and Development.

The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review

M. Mostacciuolo, E. Giustina, F. Pisani, 2011, Journal of child neurology.

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.

The ring 14 syndrome: Clinical and molecular definition

G. Neri, E. Giustina, G. Gobbi, 2009, American journal of medical genetics. Part A.

Transient Basal Ganglia and Thalamic Involvement Following Mycoplasma pneumoniae Infection Associated With Antiganglioside Antibodies

E. Giustina, C. Fusco, D. Frattini, 2010, Journal of child neurology.

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

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

Epilepsy in ring 14 syndrome: A clinical and EEG study of 22 patients

G. Neri, C. Fusco, G. Gobbi, 2013, Epilepsia.

A novel KCNQ3 gene mutation in a child with infantile convulsions and partial epilepsy with centrotemporal spikes.

C. Fusco, M. Bassi, D. Frattini, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Early onset methylmalonic aciduria and homocystinuria cblC type with demyelinating neuropathy.

C. Fusco, B. Tavazzi, E. Della Giustina, 2010, Pediatric neurology.

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

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

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.

Dilated Virchow-Robin spaces mimicking white matter disease in a XYY syndrome

E. Giustina, C. Fusco, D. Frattini, 2011, Journal of Pediatric Neurology.

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.

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

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

Partial epilepsy complicated by convulsive and nonconvulsive episodes of status epilepticus in a patient with ring chromosome 14 syndrome

E. Giustina, C. Fusco, G. Gobbi, 2010, Epileptic disorders : international epilepsy journal with videotape.

A highly unusual case of osmotic demyelination syndrome and extrapontine myelinolysis in a 3-month-old infant with Bartter syndrome

C. Spagnoli, G. Gargano, M. Manfredi, 2020, The Journal of international medical research.

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.

HCN1 mutation spectrum: from neonatal epileptic encephalopathy to benign generalized epilepsy and beyond

K. Hamacher, C. Mercer, P. Striano, 2018, Brain : a journal of neurology.

Acute and chronic corticosteroid treatment of ten patients with paralytic form of Sydenham's chorea.

F. Pisani, C. Fusco, E. Della Giustina, 2012, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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.

“Minimal” holoprosencephaly in a 14q deletion syndrome patient

G. Neri, C. Spagnoli, C. Fusco, 2017, American journal of medical genetics. Part A.

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.

[The superior thoracic outlet compression syndrome: a report of a case in childhood with complete cervical rib].

L. Perletti, M. Nedbal, D. Frattini, 1995, La Pediatria medica e chirurgica : Medical and surgical pediatrics.

Clinical and Genetic Findings in a Series of Eight Families with Arthrogryposis

L. Garavelli, T. Grimaldi, A. Superti-Furga, 2021, Genes.

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

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

Cerebellar atrophy in a child with hereditary methemoglobinemia type II

P. Bianchi, E. Giustina, C. Fusco, 2011, Brain and Development.

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.

New Niemann-Pick Type C1 Gene Mutation Associated With Very Severe Disease Course and Marked Early Cerebellar Vermis Atrophy

E. Giustina, C. Fusco, A. Russo, 2013, Journal of child neurology.

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

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

Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report

N. Nardocci, R. Pascarella, B. Garavaglia, 2015, Brain and Development.

Case report Downbeat nystagmus as the presenting symptom of infantile neuroaxonal dystrophy: A case report

N. Nardocci, R. Pascarella, B. Garavaglia, 2015 .

Clinical and radiological correlates of activities of daily living in cerebellar atrophy caused by PMM2 mutations (PMM2-CDG)

G. Matthijs, R. Battini, J. Jaeken, 2021, The Cerebellum.

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.

Isolated Vitamin E Deficiency Mimicking Distal Hereditary Motor Neuropathy in a 13-Year-Old Boy

C. Gellera, E. Giustina, F. Pisani, 2008, Journal of child 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.

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 .

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.

Coexistent Central and Peripheral Nervous System Involvement in a Charcot-Marie-Tooth Syndrome X-linked Patient

A. Ferlini, F. Pisani, C. Fusco, 2010, Journal of child neurology.

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.

Split Hand-Foot and Deafness in a Patient with 7q21.13-q21.3 Deletion Not Including the DLX5/6 Genes

V. Guida, L. Bernardini, L. Garavelli, 2023, Genes.

Novel phenotype in a family with infantile convulsions and paroxysmal choreoathetosis syndrome and PRRT2 gene mutation

B. Garavaglia, F. Pisani, C. Fusco, 2014, Brain and Development.

A Case of Infantile Neuroaxonal Dystrophy of Neonatal Onset

R. Pascarella, B. Garavaglia, C. Fusco, 2015, Journal of child neurology.

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.

The Homozygous Ganglioside-Induced Differentiation-Associated Protein 1 Mutation c.373C > T Causes a Very Early-Onset Neuropathy: Case Report and Literature Review

M. Mostacciuolo, E. Giustina, F. Pisani, 2011, Journal of child neurology.

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

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

‘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.