List of works - Carlo Fusco

"Minimal" holoprosencephaly in a 14q deletion syndrome patient.

scientific article published in December 2017

A 15-year epileptogenic period after perinatal brain injury

scientific article published on January 2017

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

scientific article published on 04 May 2019

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

scientific article published on 19 May 2019

Brain MRI abnormalities resembling Unidentified Bright Objects in a patient with Phelan-McDermid syndrome

scientific article published on 31 January 2018

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

scientific article

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

article

Corrigendum to "Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum" [Brain Dev. 41 (2019) 250-256]

scientific article published on 30 April 2019

Corticosteroid treatment in Sydenham's chorea.

scientific article published on 16 December 2017

Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations

scientific article published on 02 January 2019

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

scientific article published on 14 October 2016

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

scientific article published in October 2013

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

scientific article published on 01 November 2018

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

scientific article

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

scientific article published on 27 October 2017

IRF2BPL gene variants: One new case

scientific article published on 15 November 2019

Ictal and interictal EEG findings inchildren with migraine.

scientific article

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

scientific article published on 21 November 2016

KCNQ2 encephalopathy: A case due to a de novo deletion

scientific article

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

scientific article

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

scientific article published on 03 December 2019

Neuroimaging Changes in Menkes Disease, Part 2.

scientific article

New biallelic GBA2 variant in a patient with SPG46

scientific article published on 13 January 2020

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

scientific article

Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child

scientific article published on 27 June 2018

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

scientific article published on 10 December 2018

Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association

scientific article published on 17 December 2018

Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant

scientific article published on 01 April 2019

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

scientific article published on 17 September 2018

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

scientific article published on 21 October 2018

List of works by Carlo Fusco

"Minimal" holoprosencephaly in a 14q deletion syndrome patient.

A 15-year epileptogenic period after perinatal brain injury

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

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

Brain MRI abnormalities resembling Unidentified Bright Objects in a patient with Phelan-McDermid syndrome

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

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

Corrigendum to "Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum" [Brain Dev. 41 (2019) 250-256]

Corticosteroid treatment in Sydenham's chorea.

Early infantile SCN1A epileptic encephalopathy: Expanding the genotype-phenotype correlations

Endocrinological Abnormalities Are a Main Feature of 17p13.1 Microduplication Syndrome: A New Case and Literature Review

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

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

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

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

IRF2BPL gene variants: One new case

Ictal and interictal EEG findings inchildren with migraine.

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

KCNQ2 encephalopathy: A case due to a de novo deletion

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

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

Neuroimaging Changes in Menkes Disease, Part 2.

New biallelic GBA2 variant in a patient with SPG46

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

Ocular flutter, generalized myoclonus, and ataxia associated with anti-GM1, GD1a, and GD1b antibodies in a 6-year-old child

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

Peripheral neuropathy and gastroenterologic disorders: an overview on an underrecognized association

Prolonged survival in a patient with a novel pyrroline-5-carboxylase reductase 2 genetic variant

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

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