Rett syndrome (RTT) is a severe neurodevelopmental disorder almost exclusively affecting
females and characterized by a wide spectrum of clinical manifestations. Most patients …

Ethylmalonic encephalopathy (EE) is a devastating infantile metabolic disorder affecting the
brain, gastrointestinal tract, and peripheral vessels. High levels of ethylmalonic acid are …

<p id="p001">Deletions in the azoospermia factor region <italic>AZFa</italic> on the
human Y chromosome and, more specifically, in the region that encompasses the ubiquitin-specific …

Purpose: To evaluate how diagnostic criteria influence remission rates for patients with
childhood absence epilepsy (CAE) and to assess clinical and EEG parameters as predictors of …

By way of whole‐exome sequencing, we identified a homozygous missense mutation in VARS2
in one subject with microcephaly and epilepsy associated with isolated deficiency of the …

Neurofibromatosis 1 is the most common neurocutaneous disease. Neurologic manifestations
are mainly represented by tumors such as optic gliomas, focal areas of high T 2 -weighted …

PURPOSE: To assess the clinical characteristics and the outcome of benign convulsions
associated with mild gastroenteritis (CwG) in Italian children. METHODS: We studied clinical …

Background Floating-Harbor syndrome (FHS) is a rare condition characterized by short
stature, delays in expressive language, and a distinctive facial appearance. Recently, …

Grosso S, Margollicci MA, Bargagli E, Buccoliero R, Perrone A, Galimberti D, Morgese G,
Balestri P, Rottoli P. Serum levels of chitotriosidase as a marker of disease activity and clinical …

Objective: celiac disease (CD) is an immune-mediated chronic inflammatory disease associated
with HLA-DQ2 and DQ8 molecules. We evaluated the role of HLA in the CD diagnostic …