PPP2R2B Splice Variant Dysregulation Promotes Mitochondrial Association and Neuronal Apoptosis in iPSC-Derived Neurons from Spinocerebellar Ataxia Type 12 Patient
Objective: This study aimed to investigate the impact of PPP2R2B mutation in Spinocerebellar Ataxia Type 12 (SCA12) by analysing PPP2R2B splice variant expression, subcellular localization,…MLR–cerebellar network in body-first vs. brain-first PD: functional connectivity and clinical correlation with gait impairment
Objective: This study aims to clarify subtype-specific changes in mesencephalic locomotor region (MLR)-cerebellar functional connectivity(FC)[1][2] between body-first and brain-first Parkinson’s disease (PD) patients[3][4], and to further characterize…Plasma Proteomics Reveals Altered Redox Balance And Protein Homeostasis In Spinocerebellar Ataxia Type 12
Objective: The current study aims to identify the dysregulated proteome in the plasma through unbiased proteomics analysis in spinocerebellar ataxia type 12 (SCA12) patients. Background:…Pueraria tuberosa improves the locomotion defects in Drosophila model of FRDA
Objective: To study the therapeutic potential of the medicinal herb Pueraria tuberosa on Drosophila model of Friedreich’s ataxia. Background: Reduced levels of the mitochondrial protein…Clinical and Dopaminergic Characteristics of MSA-C Patients with Predominant Cerebellar Asymmetry
Objective: To identify multiple system atrophy–cerebellar type (MSA-C) patients with marked cerebellar asymmetry and compare their features with symmetrically affected patients. Background: While asymmetry is…Novel SPTAN1 Variant in Adult-Onset Cerebellar Ataxia in Active Duty Military Member
Objective: The objective is to investigate the genetic basis of cerebellar ataxia and identify a novel variant associated with this condition in an active-duty military…Adult-onset ataxia with oculomotor apraxia type 4 with severe hypoalbuminemia, generalized edema and obesity
Objective: To report a 45-years-old Swedish man born to non-consanguineous parents affected by an adult-onset syndrome that included insidious pain at onset, hypoalbuminemia, edema, severe…The FGF14-SCA27B GAA•TTC Repeat Shows Marked Somatic Expansion in the Cerebellum
Objective: To characterize somatic instability and molecular mechanisms of the FGF14 GAA•TTC repeat across serial blood samples, fibroblasts, induced pluripotent stem cells (iPSCs), and post-mortem brains. Background: Spinocerebellar…Resting-state EEG analysis defines the signature of CACNA1A and GAA-FGF14 related channelopathies
Objective: The aim of this study was to investigate EEG metrics in patients with CACNA1A and GAA-FGF14 related diseases and to compare them with those…Movement disorders in Brain Sagging Syndrome- A Systematic Review
Objective: Objective: This study aims to systematically review the array of movement disorders observed in patients diagnosed with brain sagging syndrome (BSS) secondary to spontaneous…
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