Abstract Charcot–Marie–Tooth disease and the related disorders hereditary motor
neuropathy and hereditary sensory neuropathy, collectively termed CMT, are the …

Glucocerebrosidase (GCase) is a retaining β-glucosidase with acid pH optimum
metabolizing the glycosphingolipid glucosylceramide (GlcCer) to ceramide and glucose …

Homozygosity mapping is a powerful method for identifying mutations in patients with
recessive conditions, especially in consanguineous families or isolated populations …

Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders
characterized by progressive spasticity of the lower limbs due to degeneration of the …

Rare disease patients are more likely to receive a rapid molecular diagnosis nowadays
thanks to the wide adoption of next‐generation sequencing. However, many cases remain …

Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous
neurodegenerative motor neuron disorders characterized by progressive age-dependent …

Parkinson's disease (PD) is a progressive neurodegenerative brain disease presenting with
a variety of motor and non-motor symptoms, loss of midbrain dopaminergic neurons in the …

Spondyloepimetaphyseal dysplasias (SEMD) are a group of genetically heterogeneous
skeletal disorders characterized by abnormal vertebral bodies and epimetaphyseal …

Principal component analysis (PCA), homozygosity rate estimations, and linkage studies in
humans are classically conducted through genome-wide single-nucleotide variant arrays …

Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an
increased risk of autosomal recessive genetic conditions, leading to severe disability or …