A Novel Mutation of NKX2-1 Gene: A Rare Presentation of Chorea
Objective: NKX2-1-related disorders encompass a spectrum extending from benign hereditary chorea (BHC) to choreoathetosis, hypothyroidism, neonatal respiratory distress. The prevalence of chorea remains undetermined, albeit…Adult-onset Niemann-Pick C in India: phenotype and genotype
Objective: This study was aimed to describe the clinical, radiological, and molecular profile of adults affected by NPC. Background: Adult-onset Niemann-Pick C (NPC) is a…Spinocerebellar ataxia type 2 specific microRNAs may have an effect on neurodegeneration.
Objective: 1.Identification of microRNA in whole blood PBMCs of SCA2 patients .2.Target prediction and pathway analysis of spinocerebellar ataxia type 2 identified miRNAs. 3.Validation of…Spinocerebellar Ataxia Type 4: a Novel Polyglycine Disease caused by GGC Repeat Expansion in ZFHX3.
Objective: Identification of the mutation causing SCA4. Background: SCA4 is an autosomal dominant disease, originally described in a large Utah pedigree, characterized by sensory and…Challenges of Huntington’s disease and chorea in Guinea: the benefits of genetic testing in tropical environments
Objective: The aim of this study was to identify the genetic underlier of individuals presenting with chorea, allowing for the diagnosis of these patients, and…Dandy-Walker syndrome. A case study.
Objective: Present a case study with rare congenital disease for further сreating a database and developing algorithms for the management of such cases in the…Spinocerebellar Ataxia 34: ELOVL4 Recurrent Mutation in a Different Family
Objective: We present a rare case of Spinocerebellar Ataxia 34 (SCA 34) in a Vietnamese patient. Background: SCA 34 is a subtype of Spinocerebellar Ataxia…Ataxia, tremor, fasciculations and hemiparesis in a GBA1 heterozygous female carrier
Objective: Our aim is to present a woman carrying a heterozygous GBA1 mutation who developed exclusively neurological symptoms in adulthood. Background: The diagnosis of Gaucher…Improving Work Up amongst Patients with Rare Movement Disorders according to Diagnostic Yield Findings– Update from Single Center Neurogenetic Clinic
Objective: We present the genetic testing diagnostic yield in a tertiary center Neurogenetic Clinic, focusing on rare movement disorders. Background: The diagnostic yield of genetic…Variant Ataxia Telangiectasia: A Novel ATM Gene Mutation With Disabling Tremor and Response to Deep Brain Stimulation
Objective: We describe a patient with a novel ATM gene variant presenting with tremor, neuropathy, and late-onset ataxia. Background: Ataxia Telangiectasia (AT) is an autosomal…
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