Novel ASO Targeting IGHMBP2 Cryptic Splice Variant: Efficacy and Safety
Objective: Our objective was to target a specific cryptic splice site variant affecting immunoglobulin mu‐binding protein 2 (IGHMBP2) protein levels with a novel antisense oligonucleotide…Intraepidermal Nerve Fiber Density at Baseline Associates with One-year Clinical Disease Progression in Multiple System Atrophy
Objective: In a longitudinal manner explore possible diagnostic and prognostic properties of determining intraepidermal nerve fiber density (IENFD), by means of skin punch biopsy, in…SCN9A Gene Variant in a PD Case with Refractory Dysesthesias
Objective: Describe an unusual case of severe pain syndrome associated with a predisposing genetic mutation, and review literature on causes of enhanced pain in PD.…CAPRIN1 defect: a new severe neurodegenerative disorder with childhood dementia, myoclonus-ataxia, and sensorimotor neuropathy
Objective: To present the case of a patient with a severe neurodegenerative disorder with onset in pediatric age carrying a pathogenic variant in CAPRIN1 gene…Potential treatment for CMT2S caused by IGHMBP2 cryptic splice variant, with ASO based therapeutic
Objective: Our objective was to target a specific cryptic splice site variant affecting immunoglobulin mu‐binding protein 2 (IGHMBP2) protein levels with a novel antisense oligonucleotide…Chronotropic incompetence – a possible marker of severe Parkinson’s disease phenotype?
Objective: Perform a retrospective analysis of patients with Parkinson’s disease (PD) who previously have undergone a cardiac stress test, with the aim of comparing clinical…Tremor in patients with chronic inflammatory demyelinating polyneuropathy: prevalence and severity
Objective: To determine prevalence and severity of tremor in patients with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP). Background: Tremor is an underrecognized and possibly disabling symptom…Tremor characteristics in patients with chronic inflammatory demyelinating polyneuropathy
Objective: To describe tremor characteristics in patients with Chronic Inflammatory Demyelinating Polyneuropathy (CIDP). Background: Tremor is an underrecognized symptom of CIDP. There is limited data…Polyneuropathy in Parkinson’s disease: cross-sectional analysis of the Bochum Parkinson Nerve Study cohort
Objective: To describe the prevalence of large-fiber polyneuropathy (PNP) in people with PD and examine differences between subjects with or without PNP. Background: Non-motor symptoms…Presence of neuropathy in most frequent hereditary cerebellar ataxia SCA1, SCA2 and FRDA in Serbian population
Objective: The aim of our study is to determine the frequency and pattern of neuropathy in patients with the most frequent hereditary ataxias in Serbian…
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