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…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…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…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…
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