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…Painful arm spasms after remote electrical injury: focal epilepsy begets causalgia-dystonia?
Objective: We describe a case of episodic, painful arm spasms with involuntary tremulous movements, after remote electrocution injury. Background: A variety of movement disorders have…A corneal nerve density possible progression biomarker in Parkinson’s disease (PD) patients: pilot study
Objective: To evaluate corneal sub-basal nerve plexus density in PD compared to age-matched healthy subjects using confocal microscopy Background: Cornea is the most densely innervated…Idiopathic Parkinson’s disease and Sensory disorders: A complication of dopatherpy or an intrinsic feature of the disease?
Objective: Evaluate the occurrence of sensory disorders (SD) in Idiopathic Parkinson’s disease (IPD) and the impact of treatment in developing peripheral neuropathy (PN). Background: SD…Association of TTPA mutation and peripheral nerve involvement in Gait disturbances in Ataxia With Vitamin E Deficiency (AVED)
Objective: To determine if peripheral nerve involvement and the type of TTPA mutation are determinant for gait ataxia in patients with AVED in vitamin E…
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