Hereditary spastic paraplegia (HSP) describes a heterogeneous group of genetic
neurodegenerative disorders in which the most severely affected neurons are those of the …

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 …

Background Arrhythmogenic right ventricular cardiomyopathy (ARVC) is an autosomal
dominant heart muscle disorder that causes arrhythmia, heart failure, and sudden death …

Noonan syndrome (NS) is a developmental disorder characterized by facial dysmorphia,
short stature, cardiac defects, and skeletal malformations. We recently demonstrated that …

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 …

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 …

Background—Arrhythmogenic right ventricular cardiomyopathy (ARVC) is a familial heart
muscle disease characterized by structural, electrical, and pathological abnormalities of the …

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 …