Jörg B. Schulz
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View article: Anle138b mitigates post-hypoxic cognitive impairment, α-Synuclein aggregation and UPR activation in Drosophila melanogaster
Anle138b mitigates post-hypoxic cognitive impairment, α-Synuclein aggregation and UPR activation in Drosophila melanogaster Open
Cerebral ischemia increases the risk of post-stroke cognitive impairment (PSCI), but the underlying molecular mechanisms remain unclear. Emerging evidence suggests that hypoxia/ischemia-induced oxidative and endoplasmic reticulum (ER) stre…
View article: Feasibility of the development and psychometric properties of a standardized screening instrument for mental disorders in patients with suspected rare diseases: results of the ZSE-DUO study
Feasibility of the development and psychometric properties of a standardized screening instrument for mental disorders in patients with suspected rare diseases: results of the ZSE-DUO study Open
Introduction Patients presenting in centers for rare diseases (CRDs) show complex symptoms, requiring multiprofessional expertise. Many patients suffer from unnoticed mental disorders. Currently, mental health experts (MHEs) are rarely inv…
View article: Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the <scp>EFACTS</scp> Study
Analysis of a Modified Version of the Inventory of Non‐Ataxia Signs Over 12 Years in Patients with Friedreich's Ataxia in the <span>EFACTS</span> Study Open
Background Friedreich's ataxia is a rare, neurodegenerative, multisystem disorder. While ataxia is a hallmark, non‐ataxia signs, including muscle weakness, spasticity, and dysphagia are equally disabling. The Inventory of Non‐Ataxia Signs …
View article: Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late
Scoliosis Surgery in a Patient With Advanced Friedreich's Ataxia—It Is Not Too Late Open
Friedreich's ataxia is a multisystem disorder with scoliosis being the most common non‐neurological manifestation. While scoliosis surgery is typically performed in adolescent, ambulatory patients, few data exist on surgical outcomes in pa…
View article: Profiles of blood–brain barrier and neurodegeneration markers in cerebrospinal fluid of patients with cerebral amyloid angiopathy
Profiles of blood–brain barrier and neurodegeneration markers in cerebrospinal fluid of patients with cerebral amyloid angiopathy Open
INTRODUCTION There are few studies analyzing cerebrospinal fluid (CSF) in patients with cerebral amyloid angiopathy (CAA). Our goal was to compare blood–brain barrier and neurodegeneration markers in CSF in CAA patients with and without he…
View article: Visuospatial processing in patients with Alzheimer’s disease and cerebral amyloid angiopathy
Visuospatial processing in patients with Alzheimer’s disease and cerebral amyloid angiopathy Open
Introduction There is a well-established but poorly understood pathological and clinical overlap between cerebral amyloid angiopathy (CAA) and Alzheimer’s disease (AD). Some studies have suggested a posterior predominance of CAA-related le…
View article: Progression to Parkinson's dementia is not modulated by genetic risk variants for Alzheimer's or Parkinson's disease
Progression to Parkinson's dementia is not modulated by genetic risk variants for Alzheimer's or Parkinson's disease Open
Parkinson's disease (PD) is marked by motor symptoms and often accompanied by mild cognitive impairment (PD-MCI), affecting up to 50% of patients and preceding PD dementia (PDD). Genetic factors may influence this progression, yet the unde…
View article: Climate anxiety - impairment and/or activation? Exploring the roles of mindfulness and emotion regulation
Climate anxiety - impairment and/or activation? Exploring the roles of mindfulness and emotion regulation Open
Climate anxiety is gaining increasing attention but how it is related to both impairment and climate change activism through the use of emotion-focused coping strategies is still poorly understood. We conducted two studies to help understa…
View article: Friedreich's ataxia—a rare multisystem disease
Friedreich's ataxia—a rare multisystem disease Open
Friedreich's ataxia is a rare autosomal recessive neurodegenerative disease. Most patients have a homozygous GAA repeat expansion in the FXN gene, resulting in a deficiency of the mitochondrial protein frataxin. Disease onset occurs typica…
View article: Correction: A natural history study to track brain and spinal cord changes in individuals with Friedreich’s ataxia: TRACK-FA study protocol
Correction: A natural history study to track brain and spinal cord changes in individuals with Friedreich’s ataxia: TRACK-FA study protocol Open
[This corrects the article DOI: 10.1371/journal.pone.0269649.].
View article: Mental disorders in people with undiagnosed diseases presenting to German centres for rare diseases – prevalence, type and relevance
Mental disorders in people with undiagnosed diseases presenting to German centres for rare diseases – prevalence, type and relevance Open
People presenting to centres for rare diseases (CRD) for diagnostic work-up often suffer from mental disorders. The prevalence and distribution of these mental disorders and their relevance for care remain largely unclear and well-controll…
View article: Neuroimaging Biomarkers for Friedreich Ataxia: A Cross‐Sectional Analysis of the <scp>TRACK</scp>‐<scp>FA</scp> Study
Neuroimaging Biomarkers for Friedreich Ataxia: A Cross‐Sectional Analysis of the <span>TRACK</span>‐<span>FA</span> Study Open
Objective We aimed to quantify differences in the brain and spinal cord between Friedreich ataxia and controls, stratified by age and disease stage, including for the first time in young children. Methods TRACK‐FA is the largest prospectiv…
View article: Correction: A natural history study to track brain and spinal cord changes in individuals with Friedreich’s ataxia: TRACK-FA study protocol
Correction: A natural history study to track brain and spinal cord changes in individuals with Friedreich’s ataxia: TRACK-FA study protocol Open
[This corrects the article DOI: 10.1371/journal.pone.0269649.].
View article: An Unusual Presentation of Peri‐Lead Edema Following Deep Brain Stimulation for Parkinson's Disease: A Case Report and Review of the Literature
An Unusual Presentation of Peri‐Lead Edema Following Deep Brain Stimulation for Parkinson's Disease: A Case Report and Review of the Literature Open
Peri‐lead edema (PLE) after deep brain stimulation may mimic brain infection on magnetic resonance imaging (MRI). We present a case of symptomatic PLE with annular contrast enhancement on MRI suggestive of an infectious cause. We show that…
View article: Refining Ligand Poses in RNA/Ligand Complexes of Pharmaceutical Relevance: A Perspective by QM/MM Simulations and NMR Measurements
Refining Ligand Poses in RNA/Ligand Complexes of Pharmaceutical Relevance: A Perspective by QM/MM Simulations and NMR Measurements Open
Predicting the binding poses of ligands targeting RNAs is challenging. Here, we propose that using first-principles quantum mechanics/molecular mechanics (QM/MM) simulations, which incorporate automatically polarization effects, can help r…
View article: Two‐year impact of <scp>COVID</scp>‐19: Longitudinal <scp>MRI</scp> brain changes and neuropsychiatric trajectories
Two‐year impact of <span>COVID</span>‐19: Longitudinal <span>MRI</span> brain changes and neuropsychiatric trajectories Open
Aim Up to 10% of SARS‐CoV‐2 infected individuals suffer from post‐COVID‐19 condition, marked by fatigue and cognitive dysfunction as major symptoms. Longitudinal studies on neuropsychological and clinical trajectories and related brain cha…
View article: Point-of-care ultrasound of the common carotid arteries for detection of large vessel occlusion stroke: Results of the POCUS-LVO study
Point-of-care ultrasound of the common carotid arteries for detection of large vessel occlusion stroke: Results of the POCUS-LVO study Open
Introduction: Distal arterial occlusions can cause measurable changes in the flow wave profile in proximal segments of the feeding artery. Our objective was to study the diagnostic accuracy of point-of-care ultrasound (POCUS) of the common…
View article: A network perspective on cognition in individuals with Parkinson's disease
A network perspective on cognition in individuals with Parkinson's disease Open
INTRODUCTION In neuropsychological diagnostics, the assignment of cognitive tests to domains is usually not empirically based. Hence, we aimed to assess the dimensionality structure of cognition in individuals with Parkinson's disease (PD)…
View article: Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the <scp>EFACTS</scp> natural history study
Longitudinal analysis of anthropometric measures over 5 years in patients with Friedreich ataxia in the <span>EFACTS</span> natural history study Open
Background Friedreich ataxia is a rare neurodegenerative disorder caused by frataxin deficiency. Both underweight and overweight occur in mitochondrial disorders, each with adverse health outcomes. We investigated the longitudinal evolutio…
View article: Evidence of clinical and brain recovery in post-COVID-19 condition: a three-year follow-up study
Evidence of clinical and brain recovery in post-COVID-19 condition: a three-year follow-up study Open
Fatigue and cognitive dysfunction linked to persistent brain changes have been reported for up to two years after COVID-19. In this study, we followed the clinical, neuroimaging and fluid biomarker trajectories over three years post SARS-C…
View article: Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension
Health-Related Quality of Life in Patients with Friedreich Ataxia Using Mobility Assistive Technologies: Limited Fit of the EQ-5D-3L Mobility Dimension Open
ClinicalTrials.gov identifier NCT02069509.
View article: The State of Earth Observing System Today: Updates Compiled from Recent EUMETSAT Meteorological Satellite Conferences
The State of Earth Observing System Today: Updates Compiled from Recent EUMETSAT Meteorological Satellite Conferences Open
This work presents highlights from the 2021 and 2022 EUMETSAT conferences, drawn from their presentations, posters, and panel discussions and placed into the wider context of the global Earth Observing (EO) system. These highlights collect…
View article: Multimodal Perspective on the Influence of Physical Activity on Alzheimer’s Disease
Multimodal Perspective on the Influence of Physical Activity on Alzheimer’s Disease Open
Background Physical exercise presents a viable low‐cost, low‐risk, individual, and widely available non‐pharmacological treatment candidate in cognitive decline such as in Alzheimer’s disease (AD). There are even indications that it can re…