Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia
…, E Bernard, C Desnuelle, MH Soriani, J Dorst… - Nature …, 2015 - nature.com
Amyotrophic lateral sclerosis (ALS) is a genetically heterogeneous neurodegenerative
syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of …
syndrome hallmarked by adult-onset loss of motor neurons. We performed exome sequencing of …
Safety and effectiveness of long-term intravenous administration of edaravone for treatment of patients with amyotrophic lateral sclerosis
…, B Koch, S Spittel, K Günther, S Michels, J Dorst… - JAMA …, 2022 - jamanetwork.com
Importance Intravenous edaravone is approved as a disease-modifying drug for patients
with amyotrophic lateral sclerosis (ALS), but evidence for efficacy is limited to short-term …
with amyotrophic lateral sclerosis (ALS), but evidence for efficacy is limited to short-term …
Neurofilament light chain in serum for the diagnosis of amyotrophic lateral sclerosis
…, H Tumani, CAF von Arnim, J Dorst… - Journal of Neurology …, 2019 - jnnp.bmj.com
Objective To determine the diagnostic and prognostic performance of serum neurofilament
light chain (NFL) in amyotrophic lateral sclerosis (ALS). Methods This single-centre, …
light chain (NFL) in amyotrophic lateral sclerosis (ALS). Methods This single-centre, …
Hot-spot KIF5A mutations cause familial ALS
, … Andrea Young Peter Bogdahn Ulrich Prudlo Johannes … - Brain, 2018 - academic.oup.com
Heterozygous missense mutations in the N-terminal motor or coiled-coil domains of the
kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and …
kinesin family member 5A (KIF5A) gene cause monogenic spastic paraplegia (HSP10) and …
Effect of high‐caloric nutrition on survival in amyotrophic lateral sclerosis
AC Ludolph, J Dorst, J Dreyhaupt… - Annals of …, 2020 - Wiley Online Library
Objective Weight loss has been identified as a negative prognostic factor in amyotrophic
lateral sclerosis, but there is no evidence regarding whether a high‐caloric diet increases …
lateral sclerosis, but there is no evidence regarding whether a high‐caloric diet increases …
[HTML][HTML] Effects of tofersen treatment in patients with SOD1-ALS in a “real-world” setting–a 12-month multicenter cohort study from the German early access program
M Wiesenfarth, J Dorst, D Brenner, Z Elmas… - …, 2024 - thelancet.com
Background In April 2023, the antisense oligonucleotide tofersen was approved by the US
Food and Drug Administration (FDA) for treatment of SOD1-amyotrophic lateral sclerosis (ALS…
Food and Drug Administration (FDA) for treatment of SOD1-amyotrophic lateral sclerosis (ALS…
A phase II− III trial of olesoxime in subjects with amyotrophic lateral sclerosis
…, M Rafiq, A Ludolph, J Dorst… - European journal of …, 2014 - Wiley Online Library
Background and purpose To assess the efficacy and safety of olesoxime, a molecule with
neuroprotective properties, in patients with amyotrophic lateral sclerosis ( ALS ) treated with …
neuroprotective properties, in patients with amyotrophic lateral sclerosis ( ALS ) treated with …
Disease-modifying and symptomatic treatment of amyotrophic lateral sclerosis
J Dorst, AC Ludolph, A Huebers - Therapeutic advances in …, 2018 - journals.sagepub.com
In this review, we summarize the most important recent developments in the treatment of
amyotrophic lateral sclerosis (ALS). In terms of disease-modifying treatment options, several …
amyotrophic lateral sclerosis (ALS). In terms of disease-modifying treatment options, several …
Comprehensive analysis of the mutation spectrum in 301 German ALS families
…, AD Sperfeld, A Hübers, M Otto, J Dorst… - Journal of Neurology …, 2018 - jnnp.bmj.com
Objectives Recent advances in amyotrophic lateral sclerosis (ALS) genetics have revealed
that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal-…
that mutations in any of more than 25 genes can cause ALS, mostly as an autosomal-…
Percutaneous endoscopic gastrostomy in amyotrophic lateral sclerosis: a prospective observational study
Weight loss is increasingly considered as a negative prognostic marker in amyotrophic
lateral sclerosis (ALS). Despite the critical importance of nutritional issues in ALS, and the …
lateral sclerosis (ALS). Despite the critical importance of nutritional issues in ALS, and the …