The hereditary spastic paraplegias (HSPs) are a heterogeneous group of disorders characterized
by degeneration of the corticospinal and spinocerebellar tracts leading to progressive …

… In the present study, we retrospectively reviewed clinical and genetic features of patients
diagnosed with an AID in an adult reference center for AID or referred for treatment and control. …

Manifesting carriers of DMD gene mutations may present diagnostic challenges, particularly
in the absence of a family history of dystrophinopathy. We review the clinical and genetic …

… focused and whole exome sequencing in the diagnosis of genetic leukoencephalopathies.
Here we provide an overview of the clinical and genetic features of these disorders in adults. …

Objective . We report the experience of the Italian Registry of patients affected by chronic
infantile neurological, cutaneous, articular (CINCA) syndrome. The clinical and genetic features …

Cyclooxygenase-2 (COX-2) is associated with breast tumour progression. Clinical and molecular
studies implicate human epidermal growth factor receptor 2 (HER2) in the regulation of …

We describe the clinical features, muscle pathology features, and molecular studies of seven
patients with Chanarin–Dorfman syndrome (CDS) or neutral lipid storage disease and …

… The aim of the present study was in vivo characterization of both probands and relatives in
a genetically heterogeneous sample, using gadolinium-enhanced cardiovascular magnetic …

… There is significant heterogeneity in the clinical features … clinical manifestations and the
genetic characterization in a large group of families. We therefore sequenced the triple A gene in …

Myoclonus dystonia syndrome is a childhood onset hyperkinetic movement disorder
characterized by predominant alcohol responsive upper body myoclonus and dystonia. A …