Wolfgang Ruf
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View article: Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1‐Linked Amyotrophic Lateral Sclerosis
Targeted Proteomics upon Treatment with Tofersen Identifies Novel Response Markers for Superoxide Dismutase 1‐Linked Amyotrophic Lateral Sclerosis Open
Objective Tofersen is the first effective and approved therapy for superoxide dismutase 1 ( SOD1 )‐associated amyotrophic lateral sclerosis (ALS [SOD1‐ALS]). Following treatment with tofersen, neurofilament levels in patients' cerebrospina…
View article: Population‐Based Versus Hospital‐Based Data in Amyotrophic Lateral Sclerosis—A Factor to Consider?
Population‐Based Versus Hospital‐Based Data in Amyotrophic Lateral Sclerosis—A Factor to Consider? Open
Background Over the past years, some studies in amyotrophic lateral sclerosis (ALS) have provided heterogeneous findings regarding demographic and clinical data as well as the impact of various prognostic factors. It is well known that the…
View article: High Agreement Across Laboratories Between Different Alpha‐Synuclein Seed Amplification Protocols
High Agreement Across Laboratories Between Different Alpha‐Synuclein Seed Amplification Protocols Open
Background Seed amplification assays (SAA) detect alpha‐synuclein (aSYN) pathology in patient biomatrices such as cerebrospinal fluid (CSF)—potentially even before clinical manifestations. As CSF‐based SAA are approaching broader use in cl…
View article: Population‐Based Evidence for the Use of Serum Neurofilaments as Individual Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis
Population‐Based Evidence for the Use of Serum Neurofilaments as Individual Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis Open
Objective Neurofilament light chains (NfL) and phosphorylated neurofilament heavy chains (pNfH), established as diagnostic and prognostic biomarkers in hospital‐based amyotrophic lateral sclerosis (ALS) cohorts, are now surrogate markers i…
View article: Clinical characterization of common pathogenic variants of SOD1-ALS in Germany
Clinical characterization of common pathogenic variants of SOD1-ALS in Germany Open
Pathogenic variants in the Cu/Zn superoxide dismutase ( SOD1 ) gene can be detected in approximately 2% of sporadic and 11% of familial amyotrophic lateral sclerosis (ALS) patients in Europe. We analyzed the clinical phenotypes of 83 SOD1 …
View article: Targeted proteomics upon Tofersen identifies candidate response markers for SOD1-linked amyotrophic lateral sclerosis
Targeted proteomics upon Tofersen identifies candidate response markers for SOD1-linked amyotrophic lateral sclerosis Open
Tofersen is the first effective and approved therapy for familial ALS caused by pathogenic variants in the SOD1 gene. Following treatment with tofersen, neurofilaments in patients CSF and serum display a faster response than clinical param…
View article: A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice
A TBK1 variant causes autophagolysosomal and motoneuron pathology without neuroinflammation in mice Open
Heterozygous mutations in the TBK1 gene can cause amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). The majority of TBK1-ALS/FTD patients carry deleterious loss-of-expression mutations, and it is still unclear which TB…
View article: Population-based Evidence for the Use of Serum Neurofilaments as Individual Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis
Population-based Evidence for the Use of Serum Neurofilaments as Individual Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis Open
OBJECTIVE Neurofilament light (NfL) and phosphorylated heavy chains (pNfH), established as diagnostic and prognostic biomarkers in hospital-based amyotrophic lateral sclerosis (ALS) cohorts, are now surrogate markers in clinical trials. Th…
View article: Population-based Evidence for Using Serum Neurofilaments as Individual Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis
Population-based Evidence for Using Serum Neurofilaments as Individual Diagnostic and Prognostic Biomarkers in Amyotrophic Lateral Sclerosis Open
Neurofilaments are biomarkers for neuroaxonal damage and are being evaluated in Amyotrophic Lateral Sclerosis (ALS) to support diagnosis, estimate prognosis, and monitor treatment effects. This study presents data on serum neurofilament le…
View article: ALS is imprinted in the chromatin accessibility of blood cells
ALS is imprinted in the chromatin accessibility of blood cells Open
Amyotrophic Lateral Sclerosis (ALS) is a complex and incurable neurodegenerative disorder in which genetic and epigenetic factors contribute to the pathogenesis of all forms of ALS. The interplay of genetic predisposition and environmental…
View article: Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis
Spectrum and frequency of genetic variants in sporadic amyotrophic lateral sclerosis Open
Therapy of motoneuron diseases entered a new phase with the use of intrathecal antisense oligonucleotide therapies treating patients with specific gene mutations predominantly in the context of familial amyotrophic lateral sclerosis. With …
View article: Additional file 1 of Mitochondrial genome study in blood of maternally inherited ALS cases
Additional file 1 of Mitochondrial genome study in blood of maternally inherited ALS cases Open
Additional file 1 This excel sheet contains detailed information on all subjects (patients and controls) analyzed in this study including age and sex and disease parameter for ALS patients.
View article: DNA Methylation Analysis in Monozygotic Twins Discordant for ALS in Blood Cells
DNA Methylation Analysis in Monozygotic Twins Discordant for ALS in Blood Cells Open
ALS is a fatal motor neuron disease that displays a broad variety of phenotypes ranging from early fatal courses to slowly progressing and rather benign courses. Such divergence can also be seen in genetic ALS cases with varying phenotypes…
View article: Thoracic trauma promotes alpha-Synuclein oligomerization in murine Parkinson's disease
Thoracic trauma promotes alpha-Synuclein oligomerization in murine Parkinson's disease Open
Background Systemic and neuroinflammatory processes play key roles in neurodegenerative diseases such as Parkinson's disease (PD). Physical trauma which induces considerable systemic inflammatory responses, represents an evident environmen…
View article: Protein Binding Partners of Dysregulated miRNAs in Parkinson’s Disease Serum
Protein Binding Partners of Dysregulated miRNAs in Parkinson’s Disease Serum Open
Accumulating evidence suggests that microRNAs (miRNAs) are a contributing factor to neurodegenerative diseases. Although altered miRNA profiles in serum or plasma have been reported for several neurodegenerative diseases, little is known a…
View article: Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations Open
sponsorship: This work was supported in whole or in part by grants from the German society for patients with muscular diseases (DGM), the German Federal Ministry of Education and Research [JPND 'STRENGTH' consortium (01ED1408); JPND 'PreFr…
View article: A19 BACTERIAL PROTEASES INCREASE SENSITIVITY TO DIETARY ANTIGEN THROUGH PAR-2 SIGNALING
A19 BACTERIAL PROTEASES INCREASE SENSITIVITY TO DIETARY ANTIGEN THROUGH PAR-2 SIGNALING Open
BACKGROUND: Microbial-dietary-host interactions are generally homeostatic but when dysfunctional, can incite food sensitivities such as celiac disease in genetically predisposed people. However, the specific pathways involved and sequence …
View article: Additional file 5: Figure S5. of α-synuclein interacts with SOD1 and promotes its oligomerization
Additional file 5: Figure S5. of α-synuclein interacts with SOD1 and promotes its oligomerization Open
Increase in luciferase activity in presence of α-synuclein and reduced luciferase activity in absence of α-synuclein does not derive from unequal expression levels. A Densitometry of western blots from H4 cell co-transfected with SOD1-1 /-…