Maja von der Hagen
A5056538233- Muscle Physiology and Disorders
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- RNA modifications and cancer
- Genetic Neurodegenerative Diseases
- Congenital Anomalies and Fetal Surgery
- Mitochondrial Function and Pathology
- Genomics and Rare Diseases
- Nuclear Structure and Function
- Cellular transport and secretion
- Metabolism and Genetic Disorders
- Neurological disorders and treatments
- Ubiquitin and proteasome pathways
- Childhood Cancer Survivors' Quality of Life
- Glycogen Storage Diseases and Myoclonus
- Myasthenia Gravis and Thymoma
- Genetics and Neurodevelopmental Disorders
- Ion channel regulation and function
- Microtubule and mitosis dynamics
- Olfactory and Sensory Function Studies
- Genomic variations and chromosomal abnormalities
- Migraine and Headache Studies
- Viral Infections and Immunology Research
- Glioma Diagnosis and Treatment
- interferon and immune responses
University Hospital Carl Gustav Carus
2015-2024
Technische Universität Dresden
2015-2024
SMART Reading
2024
Klinik und Poliklinik für Kinder- und Jugendmedizin
2005-2023
Université Paris Cité
2020
Institut de Myologie
2020
Centre National de la Recherche Scientifique
2020
Assistance Publique – Hôpitaux de Paris
2020
Pitié-Salpêtrière Hospital
2020
Sorbonne Université
2020
Corticosteroids improve strength and function in boys with Duchenne muscular dystrophy. However, there is uncertainty regarding the optimum regimen dosage.To compare efficacy adverse effects of 3 most frequently prescribed corticosteroid regimens dystrophy.Double-blind, parallel-group randomized clinical trial including 196 aged 4 to 7 years dystrophy who had not previously been treated corticosteroids; enrollment occurred between January 30, 2013, September 17, 2016, at 32 clinic sites 5...
Congenital myasthenic syndromes (CMSs) are clinically and genetically heterogeneous disorders characterized by a neuromuscular transmission defect. Even though CMSs genetic disorders, they highly treatable, the appropriate drug treatment depends on underlying This highlights importance of testing in CMS. In recent years, molecular basis CMS has constantly broadened disease-associated mutations have been identified 14 genes encoding proteins junction. dawn novel sequencing strategies, we...
Several hundred genetic muscle diseases have been described, all of which are rare. Their clinical and heterogeneity means that a diagnosis is challenging. We established an international consortium, MYO-SEQ, to aid the work-ups disease patients better understand etiology.Exome sequencing was applied 1001 undiagnosed recruited from more than 40 neuromuscular referral centers; standardized phenotypic information collected for each patient. Exomes were examined variants in 429 genes associated...
Abstract 5q-associated spinal muscular atrophy is a rare neuromuscular disorder with the leading symptom of proximal muscle weakness. Three different drugs have been approved by European Medicines Agency and Food Drug Administration for treatment patients, however, long-term experience still scarce. In contrast to clinical trial data restricted patient populations short observation periods, we report here real-world evidence on broad spectrum patients early-onset treated nusinersen focusing...
We present clinical features and genetic results of 1206 index patients 124 affected relatives who were referred for testing Charcot-Marie-Tooth (CMT) neuropathy at the laboratory in Aachen between 2001 2012. Genetic detection rates 56% demyelinating CMT (71% autosomal dominant (AD) CMT1/CMTX), 17% axonal (24% AD CMT2/CMTX). Three defects (PMP22 duplication/deletion, GJB1/Cx32 or MPZ/P0 mutation) responsible 89.3% whom a diagnosis was achieved, diagnostic yield three main (GJB1/Cx32, MFN2,...
Background and Objective: Congenital myasthenic syndromes are rare inherited disorders characterized by fatigable weakness caused malfunction of the neuromuscular junction. We performed whole exome sequencing to unravel genetic aetiology in an
<h3>Objective</h3> To clarify the prevalence, long-term natural history, and severity determinants of <i>SEPN1</i>-related myopathy (SEPN1-RM), we analyzed a large international case series. <h3>Methods</h3> Retrospective clinical, histologic, genetic analysis 132 pediatric adult patients (2–58 years) followed up for several decades. <h3>Results</h3> The clinical phenotype was marked by severe axial muscle weakness, spinal rigidity, scoliosis (86.1%, from 8.9 ± 4 years), with relatively...
Abstract Objective The aim of this study was to evaluate neurofilament light chain as blood biomarker for disease activity in children and adolescents with different types spinal muscular atrophy (SMA) establish pediatric reference values. Methods We measured levels serum (sNfL) cerebral fluid (cNfL) 18 SMA varying numbers SMN2 copies receiving nusinersen by single‐molecule array (SiMoA) assay analyzed correlations baseline characteristics motor development. Additionally, we examined sNfL 97...
Congenital myasthenic syndromes (CMS) are a heterogeneous group of inherited disorders caused by genetic defects that affect transmission at the neuromuscular junction.1 To date, 10 genes known to cause CMS if mutated.2 Mutations in muscle specific kinase ( MUSK ) gene have been published single family worldwide.3 Two siblings this were reported carrying heteroallelic mutations. ### Case reports. We report on novel homozygous missense mutation 5 affected sibs (patients 1–5) from...
The β-tropomyosin gene encodes a component of the sarcomeric thin filament. Rod-shaped dimers tropomyosin regulate actin-myosin interactions and mutations have been associated with nemaline myopathy, cap Escobar syndrome distal arthrogryposis types 1A 2B. In this study, we expand allelic spectrum β-tropomyosin-related myopathies through identification novel mutation in two clinical contexts not previously β-tropomyosin. first phenotype is core-rod uncovered by whole exome sequencing family...
Dystroglycanopathies are a clinically and genetically heterogeneous group of disorders that typically characterised by limb-girdle muscle weakness. Mutations in 18 different genes have been associated with dystroglycanopathies, the encoded proteins which modulate binding α-dystroglycan to extracellular matrix ligands altering its glycosylation. This results disruption structural integrity myocyte, ultimately leading degeneration. Deep phenotypic information was gathered using PhenoTips...
Abstract Mutations in the cytoplasmic dynein 1 heavy chain gene ( DYNC1H1 ) have been identified rare neuromuscular (NMD) and neurodevelopmental (NDD) disorders such as spinal muscular atrophy with lower extremity dominance (SMALED) autosomal dominant mental retardation syndrome 13 (MRD13). Phenotypes genotypes of ten pediatric patients pathogenic variants were analyzed a multi-center study. Data mining large-scale genomic variant databases was used to investigate domain-specific...
Spinal muscular atrophy (SMA) is a neuromuscular disease, causing progressive muscle weakness due to loss of lower motoneurons. Since 2017, three therapies, two modifying gene transcription and one adding the defective gene, have been approved with comparable efficacy on motor outcome. Data cognitive outcomes treated SMA type 1 patients limited. The aim this study was evaluate function in symptomatic presymptomatic or SMN2 copies who received SMN-modifying gene-addition therapy first year life.
<h3>Objective</h3> To perform genetic testing of patients with congenital myasthenic syndromes (CMS) from the Southern Brazilian state Parana. <h3>Patients and methods</h3> Twenty-five CMS 18 independent families were included in study. Known genes sequenced restriction digest for mutation <i>RAPSN</i> p.N88K was performed all patients. <h3>Results</h3> We identified recessive mutations <i>CHRNE</i> ten families, <i>DOK7</i> three <i>COLQ</i>, <i>CHRNA1</i> <i>CHRNB1</i> one family each. The...