[HTML][HTML] West syndrome: a comprehensive review

P Pavone, A Polizzi, SD Marino, G Corsello… - Neurological …, 2020 - Springer
Since its first clinical description (on his son) by William James West (1793–1848) in 1841,
and the definition of the classical triad of (1) infantile spasms;(2) hypsarrhythmia, and (3) …

Antibodies in myasthenia gravis and related disorders

A Vincent, J McCONVILLE, ME Farrugia… - Annals of the New …, 2003 - Wiley Online Library
Acetylcholine receptor (AChR) antibodies are present in around 85% of patients with
myasthenia gravis (MG) as measured by the conventional radioimmunoprecipitation assay …

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

M Ruggieri, A Polizzi, A Spalice, V Salpietro… - Clinical …, 2015 - Wiley Online Library
Spinal neurofibromatosis (SNF) is a related form of neurofibromatosis 1 (NF1), characterized
by bilateral neurofibromas (histologically proven) of all spinal roots (and, eventually, of all …

Multiple sclerosis in children under 6 years of age

M Ruggieri, A Polizzi, L Pavone, LME Grimaldi - Neurology, 1999 - AAN Enterprises
Objectives: To characterize MS patients with the earliest onset of disease. Background: MS—
primarily a disease of young adulthood—begins in childhood in 3 to 5% of cases. However …

Ohtahara syndrome with emphasis on recent genetic discovery

P Pavone, A Spalice, A Polizzi, P Parisi… - Brain and Development, 2012 - Elsevier
Ohtahara syndrome or Early Infantile Epileptic Encephalopathy (EIEE) with Suppression-
Burst, is the most severe and the earliest developing age-related epileptic encephalopathy …

Septo-optic dysplasia complex: a heterogeneous malformation syndrome

A Polizzi, P Pavone, P Iannetti, L Manfré, M Ruggieri - Pediatric neurology, 2006 - Elsevier
Septo-optic dysplasia is defined by a variable combination of dysgenesis of midline brain
structures including optic nerve hypoplasia and hypothalamic-pituitary dysfunction often …

Early history of the different forms of neurofibromatosis from ancient Egypt to the British Empire and beyond: first descriptions, medical curiosities, misconceptions …

M Ruggieri, AD Praticò, R Caltabiano… - American Journal of …, 2018 - Wiley Online Library
The earliest examples of neurofibromatosis (in this case type 1, NF1) can be traced in the
Ebers Papyrus (Ancient Egypt, 1.500 BC), in a Hellenistic statuette (Smyrna, 323 BC), in the …

Low prevalence of neurologic and psychiatric manifestations in children with gluten sensitivity

M Ruggieri, G Incorpora, A Polizzi, E Parano… - The Journal of …, 2008 - Elsevier
OBJECTIVE: To determine the frequency of neurologic manifestations in children with gluten
sensitivity (GS) and the frequency of GS in children with neurologic disease. STUDY …

[PDF][PDF] Idiopathic intracranial hypertension: a unifying neuroendocrine hypothesis through the adrenal-brain axis

V Salpietro, A Polizzi, LF Bertè, R Chimenz… - Neuroendocrinol …, 2012 - researchgate.net
The clinical syndrome idiopathic intracranial hypertension (IIH), also termed pseudotumor
cerebri, consists of symptoms of headache, nausea, vomiting and visual field defects in …

Introduction to phacomatoses (neurocutaneous disorders) in childhood

M Ruggieri, A Polizzi, GP Marceca, S Catanzaro… - Child's Nervous …, 2020 - Springer
Abstract The Dutch ophthalmologist, Jan van der Hoeve, first introduced the terms
phakoma/phakomata (from the old Greek word “ϕαχοσ”= lentil, spot, lens-shaped) to define …