Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic
neurodegenerative diseases characterised by progressive spasticity of the lower limbs. The …

Noonan syndrome (MIM 163950) is an autosomal dominant disorder characterized by
dysmorphic facial features, proportionate short stature and heart disease (most commonly …

We identified an autosomal recessive infantile-onset symptomatic epilepsy syndrome
associated with developmental stagnation and blindness. Assuming a founder effect in a …

Distal hereditary motor neuropathy (dHMN) or distal spinal muscular atrophy (OMIM#
182960) is a heterogeneous group of disorders characterized by an almost exclusive …

Background: Cerebral autosomal dominant arteriopathy with subcortical infarcts and
leukoencephalopathy (CADASIL) is an inherited autosomal dominant condition …

The term" hereditary spastic paraplegia"(HSP) refers to a genetically and clinically diverse
group of disorders whose primary feature is progressive spasticity of the lower extremities …

Spinal muscular atrophies (SMA, also known as hereditary motor neuropathies) and
hereditary motor and sensory neuropathies (HMSN) are clinically and genetically …

Troyer syndrome (TRS) is an autosomal recessive complicated hereditary spastic
paraplegia (HSP) that occurs with high frequency in the Old Order Amish. We report …

Adenosine diphosphate (ADP)‐ribosylation is a post‐translational protein modification
implicated in the regulation of a range of cellular processes. A family of proteins that catalyse …

Objective: To define better the adult phenotype and natural history of Noonan syndrome.
Design: A prospective observational study of a large cohort. Results: Data are presented for …