SLC6A17 mutations are not a common cause of intellectual disability and movement disorders in a large cohort of consanguineous Iranian families
Objective: To determine the prevalence of SLC6A17 mutations in a cohort of Iranian patients with intellectual disability and movement disorders. Background: Mutations in the SLC6A17…Paediatric and adult-onset parkinsonism in Chediak-Higashi disease: A new family
Objective: To report two siblings affected by Chediak-Higashi syndrome (CHS) presenting with a pure neurological phenotype including paediatric and adult-onset parkinsonism. Background: CHS is a…Study on association between physical and genetics role in essential tremor – A case control study
Objective: To elucidate the relationships between physical and genetics parameters in essential tremor patients and controls. Tremor is an involuntary, rhythmic shaking of any part…Risk prediction modeling in Parkinson’s disease using genetic and environmental/lifestyle factors
Objective: To assess the potential of Parkinson's disease (PD) risk prediction using a comprehensive list of genetic and environmental/lifestyle factors associated with PD. Background: Parkinson's…Triple X syndrome: Are tremors part of its phenotype?
Objective: To present the case of a woman 47 XXX karyotype who developed tremors, with a background of mild learning disability and epilepsy since childhood.…L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency
Objective: To report a patient with L-dopa-responsive, diurnally fluctuating auricular tremor with tetrahydrobiopterin (BH4) deficiency. Background: Although segmental dystonia of the cranial muscles is recognized,…Analysis of LINGO1 and LINGO2 genes in essential tremor and Parkinson’s disease
Objective: We studied the involvement of LINGO1 and LINGO2 in Russian patients with ET and PD. Background: Genetics of ET is unclear. Three candidate loci…Fragile X-associated tremor/ataxia syndrome in two female patients
Objective: To report two cases of female patients with FXTAS. Background: Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder with core features of action…
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