Moritz Metelmann
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View article: Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult‐Onset Metachromatic Leukodystrophy
Psychological Framing of Illness: Early Family Trauma and Diagnostic Delay in Adult‐Onset Metachromatic Leukodystrophy Open
Metachromatic leukodystrophy (MLD) is a rare, autosomal recessive disorder of lipid metabolism characterized by deficiency of arylsulfatase A (ARSA), which leads to an accumulation of sulfatides in central and peripheral nerve system and e…
View article: Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial
Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial Open
Framework of the E-Rare Joint Transnational Call 2016 "Clinical research for new therapeutic uses of already existing molecules (repurposing) in rare diseases".
View article: <i>SOD1</i> gene screening in ALS – frequency of mutations, patients’ attitudes to genetic information and transition to tofersen treatment in a multi-center program
<i>SOD1</i> gene screening in ALS – frequency of mutations, patients’ attitudes to genetic information and transition to tofersen treatment in a multi-center program Open
The finding of SOD1 variants in patients with a negative family history underscores the need for a broad genetic screening in ALS. In SOD1-ALS, the treatment option with tofersen was mostly utilized. The wide range in the transition time t…
View article: Patients’ and caregivers’ perception of multidimensional and palliative care in amyotrophic lateral sclerosis – protocol of a German multicentre study
Patients’ and caregivers’ perception of multidimensional and palliative care in amyotrophic lateral sclerosis – protocol of a German multicentre study Open
Introduction Amyotrophic lateral sclerosis (ALS) is an inevitably fatal condition that leads to a progressive loss of physical functioning, which results in a high psychosocial burden and organizational challenges related to medical care. …
View article: Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study
Serum neurofilament light chain in distinct phenotypes of amyotrophic lateral sclerosis: A longitudinal, multicenter study Open
Objective To assess the performance of serum neurofilament light chain (sNfL) in clinical phenotypes of amyotrophic lateral sclerosis (ALS). Method s In 2949 ALS patients at 16 ALS centers in Germany and Austria, clinical characteristics a…
View article: Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany
Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany Open
Background and objectives Motor Neuron Diseases (MND) are rare diseases but have a high impact on affected individuals and society. This study aims to perform an economic evaluation of MND in Germany. Methods Primary patient-reported data …
View article: Performance of serum neurofilament light chain in a wide spectrum of clinical courses of amyotrophic lateral sclerosis—a cross‐sectional multicenter study
Performance of serum neurofilament light chain in a wide spectrum of clinical courses of amyotrophic lateral sclerosis—a cross‐sectional multicenter study Open
Background and purpose The objective was to assess the performance of serum neurofilament light chain (sNfL) in amyotrophic lateral sclerosis (ALS) in a wide range of disease courses, in terms of progression, duration and tracheostomy inva…
View article: Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study
Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study Open
Remote self-assessment of the revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) using digital data capture was investigated for its feasibility as an add-on to ALSFRS-R assessments during multidisciplinary clinic vis…
View article: Use and subjective experience of the impact of a motor-assisted movement exerciser in people with amyotrophic lateral sclerosis: a multicentre observational study
Use and subjective experience of the impact of a motor-assisted movement exerciser in people with amyotrophic lateral sclerosis: a multicentre observational study Open
Objective: Motor-assisted movement exercisers (MME) enable device-assisted physical therapy delivered in domestic settings. This observational study captures the frequency of MME use, subjective experience of the therapy provided and MME r…
View article: Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study
Remote digital assessment of amyotrophic lateral sclerosis functional rating scale – a multicenter observational study Open
Remote self-assessment of the revised amyotrophic lateral sclerosis functional rating scale (ALSFRS-R) using digital data capture was investigated for its feasibility as an add-on to ALSFRS-R assessments during multidisciplinary clinic vis…
View article: Multimodal assessment of autonomic dysfunction in amyotrophic lateral sclerosis
Multimodal assessment of autonomic dysfunction in amyotrophic lateral sclerosis Open
Background and purpose Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder with predominant progressive degeneration of motor neurons and motor deficits, but non‐motor symptoms (NMS) such as cognitive and behavioural defici…
View article: Pathological laughter and crying: insights from lesion network-symptom-mapping
Pathological laughter and crying: insights from lesion network-symptom-mapping Open
The study of pathological laughter and crying (PLC) allows insights into the neural basis of laughter and crying, two hallmarks of human nature. PLC is defined by brief, intense and frequent episodes of uncontrollable laughter or crying pr…
View article: Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives
Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers’ Lives Open
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease that causes progressive autonomy loss and need for care. This does not only affect patients themselves, but also the patients’ informal caregivers (CGs) in their heal…
View article: A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany
A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany Open
Improving quality of life (QoL) is central to amyotrophic lateral sclerosis (ALS) treatment. This Germany-wide, multicenter cross-sectional study analyses the impact of different symptom-specific treatments and ALS variants on QoL. Health-…