E. Giustina

发表

Encephalopathy with status epilepticus during slow sleep: “The Penelope syndrome”

G. Cantalupo, C. Tassinari, G. Rubboli, 2009, Epilepsia.

Neurologic Development and Objective Neurological Examination of the Infant and the Child

E. Giustina, 2017 .

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

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

Enterovirus Encephalitis in Newborns: Not-Periventricular Brain Involvement and Vascular Pathogenesis in a Novel Case

E. Giustina, M. Sintini, C. Giannelli, 2020, Journal of Pediatric Neurology.

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.

Screening of ARHSP‐TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

E. Bertini, M. Tosetti, G. Cioni, 2009, Human mutation.

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.

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.

A Golgi study of the brain malformation in Zellweger's cerebro-hepato-renal disease

A. Goffinet, P. Landrieu, E. Giustina, 2004, Acta Neuropathologica.

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

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

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.

Megalencephaly and perisylvian polymicrogyria with postaxial polydactyly and hydrocephalus (MPPH): report of a new case.

P. J. van der Spek, W. Dobyns, G. Neri, 2007, Neuropediatrics.

Cerebellar atrophy in a child with hereditary methemoglobinemia type II

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

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.

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.

Stress fracture of the peroneal bone secondary to a complex tic

E. Giustina, C. Fusco, G. Bertani, 2006, Brain and Development.

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the gene ZFHX1B (SIP1): Confirmation of the Mowat‐Wilson syndrome

L. Garavelli, A. Rauch, C. Zweier, 2003, American journal of medical genetics. Part A.

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.