A5021553008- Genetic Neurodegenerative Diseases
- Glycogen Storage Diseases and Myoclonus
- Lysosomal Storage Disorders Research
- Parkinson's Disease Mechanisms and Treatments
- Muscle Physiology and Disorders
- Mitochondrial Function and Pathology
- Cardiomyopathy and Myosin Studies
- Inflammatory Myopathies and Dermatomyositis
- Child Nutrition and Feeding Issues
- Neurogenetic and Muscular Disorders Research
- Advanced MRI Techniques and Applications
- Advanced Neuroimaging Techniques and Applications
- Neurology and Historical Studies
- Carbohydrate Chemistry and Synthesis
- Botulinum Toxin and Related Neurological Disorders
- Neurological disorders and treatments
- RNA modifications and cancer
- Neurotransmitter Receptor Influence on Behavior
- Immunodeficiency and Autoimmune Disorders
- Cannabis and Cannabinoid Research
- Hereditary Neurological Disorders
- Cardiovascular Effects of Exercise
- Ion channel regulation and function
- Moyamoya disease diagnosis and treatment
- Trypanosoma species research and implications
Friedrich Baur Stiftung
2016-2025
Ludwig-Maximilians-Universität München
2016-2024
SMART Reading
2024
LMU Klinikum
2020-2022
Pitié-Salpêtrière Hospital
2021
Sorbonne Université
2021
Institut de Myologie
2021
Assistance Publique – Hôpitaux de Paris
2021
München Klinik
2016-2020
Medical University of Warsaw
2019
Pompe disease is one of the few neuromuscular diseases with an approved drug therapy, which has been available since 2006. Our study aimed to determine real-world long-term efficacy and safety alglucosidase alfa.This multicenter retrospective (NCT02824068) collected data from adult patients receiving ERT for at least 3 years. Demographics baseline characteristics, muscle strength, lung function (FVC), walking capability (6MWT), were assessed once a year. Evaluation was done on group...
Abstract Genetic diagnosis of facioscapulohumeral muscular dystrophy (FSHD) remains a challenge in clinical practice as it cannot be detected by standard sequencing methods despite being the third most common dystrophy. The conventional diagnostic strategy addresses known genetic parameters FSHD: required presence permissive haplotype, size reduction D4Z4 repeat chromosome 4q35 (defining FSHD1) or pathogenic variant an epigenetic suppressor gene (consistent with FSHD2). Incomplete penetrance...
Abstract Myositis with anti-Ku-autoantibodies is a rare inflammatory myopathy associated various connective tissue diseases. Histopathological studies have identified and necrotizing aspects, but precise morphological analysis pathomechanistic disease model are lacking. We therefore aimed to carry out an in-depth morpho-molecular uncover possible pathomechanisms. Muscle biopsy specimens from 26 patients anti-Ku-antibodies unequivocal myositis were analyzed by immunohistochemistry,...
Inherited ataxias are a group of heterogeneous disorders in children or adults but their genetic definition remains still undetermined almost half the patients. However, CoQ 10 deficiency is rare cause cerebellar ataxia and ADCK3 most frequent gene associated with this defect. We herein report 48 year old man, who presented dysarthria walking difficulties. Brain magnetic resonance imaging showed marked atrophy. Serum lactate was elevated. Tissues obtained by muscle skin biopsies were studied...
Background Quantitative muscle water T2 (T2 w ) mapping is regarded as a biomarker for disease activity and response to treatment in neuromuscular diseases (NMD). However, the implementation clinical settings limited due long scanning times low resolution. Using artificial intelligence (AI) accelerate MR image acquisition offers possible solution. Combining compressed sensing parallel imaging with AI-based reconstruction, known CSAI (SmartSpeed, Philips Healthcare), allows generation of...
Abstract Introduction Non-dystrophic myotonias (NDM) are heterogeneous diseases caused by mutations in CLCN1 and SCN4A . The study aimed to describe the clinical genetic spectrum of NDM a large German cohort. Methods We retrospectively identified all patients with genetically confirmed diagnosed our center. following data were analyzed: demographics, family history, muscular features, cardiac involvement, CK, EMG, genotype, other tested genes, treatment perceived efficacy. Results 70 (age...
Introduction Mutations in the guanosine diphosphate–mannose pyrophosphorylase-B gene (GMPPB) have been identified congenital muscular dystrophies, limb-girdle dystrophy (LGMD2T), and myasthenic syndromes (CMSs); overall, 41 patients described. Methods Two presented with a syndrome (patient 1; 74 years old) rhabdomyolysis 2; 23 old). Examinations included repetitive nerve stimulation, muscle biopsy whole-body MRI (WBMRI); next generation sequencing facilitated diagnosis. Results We following...
Quantitative imaging techniques are emerging in the field of magnetic resonance neuromuscular diseases (NMD). T2 water (T2w ) is considered an important marker to assess acute and chronic alterations muscle fibers, being generally interpreted as indicator for "disease activity" tissue. To validate accuracy robustness quantitative methods, 1 H spectroscopy (MRS) can be used a gold standard. The purpose present work was investigate T2w remaining tissue regions higher proton density fat...
Magnetic resonance imaging (MRI) can non-invasively assess muscle anatomy, exercise effects and pathologies with different underlying causes such as neuromuscular diseases (NMD). Quantitative MRI including fat fraction mapping using chemical shift encoding-based water-fat has emerged for reliable determination of volume composition. The data analysis images requires segmentation the muscles which been mainly performed manually in past is a very time consuming process, currently limiting...
(1) Background and Purpose: The skeletal muscles of patients suffering from neuromuscular diseases (NMD) are affected by atrophy, hypertrophy, fatty infiltration, edematous changes. Magnetic resonance imaging (MRI) is an important tool for diagnosis monitoring. Concerning T1-weighted or T2-weighted DIXON turbo spin echo (TSE) sequences enable a qualitative assessment muscle involvement. To achieve higher comparability, semi-quantitative grading scales, such as the four-point Mercuri scale,...
Muscle water T2 (T2w ) has been proposed as a biomarker to monitor disease activity and therapy effectiveness in patients with neuromuscular diseases (NMD). Multi-echo spin-echo (MESE) is known be affected by fatty infiltration. A -prepared 3D turbo spin echo (TSE) an alternative method for mapping, but only applied healthy muscles.To examine the performance of TSE combination spectral adiabatic inversion recovery (SPAIR) measuring T2w infiltrated muscles based on simulations vivo...
Pain occurs in the majority of patients with late onset Pompe disease (LOPD) and is associated a reduced quality life. The aim this study was to analyse pain characteristics its relation small nerve fiber involvement LOPD patients.In 35 under enzyme replacement therapy without clinical signs polyneuropathy (19 females; 51 ± 15 years), as well depressive anxiety symptoms were assessed using PainDetect questionnaire (PDQ) hospital depression scale (HADS), respectively. Distal skin biopsies...