Prognostic relevance of MOG antibodies in children with an acquired demyelinating syndrome
EM Hennes, M Baumann, K Schanda, B Anlar… - Neurology, 2017 - AAN Enterprises
Objective: To assess the prognostic value of MOG antibodies (abs) in the differential
diagnosis of acquired demyelinating syndromes (ADS). Methods: Clinical course, MRI, MOG …
diagnosis of acquired demyelinating syndromes (ADS). Methods: Clinical course, MRI, MOG …
[PDF][PDF] Mutations in GTPBP3 cause a mitochondrial translation defect associated with hypertrophic cardiomyopathy, lactic acidosis, and encephalopathy
R Kopajtich, TJ Nicholls, J Rorbach… - The American Journal of …, 2014 - cell.com
Respiratory chain deficiencies exhibit a wide variety of clinical phenotypes resulting from
defective mitochondrial energy production through oxidative phosphorylation. These defects …
defective mitochondrial energy production through oxidative phosphorylation. These defects …
Antibodies to MOG and AQP4 in children with neuromyelitis optica and limited forms of the disease
C Lechner, M Baumann, EM Hennes… - Journal of Neurology …, 2016 - jnnp.bmj.com
Objective To determine the frequency and clinical-radiological associations of antibodies to
myelin oligodendrocyte glycoprotein (MOG) and aquaporin-4 (AQP4) in children presenting …
myelin oligodendrocyte glycoprotein (MOG) and aquaporin-4 (AQP4) in children presenting …
[HTML][HTML] Direct and indirect costs and cost-driving factors in adults with tuberous sclerosis complex: a multicenter cohort study and a review of the literature
JP Zöllner, J Grau, F Rosenow, M Sauter… - Orphanet journal of rare …, 2021 - Springer
Background Tuberous sclerosis complex (TSC) is a monogenetic, multisystem disorder
characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter …
characterized by benign growths due to TSC1 or TSC2 mutations. This German multicenter …
Prescription patterns of antiseizure drugs in tuberous sclerosis complex (TSC)-associated epilepsy: a multicenter cohort study from Germany and review of the …
A Strzelczyk, J Grau, T Bast, A Bertsche… - Expert Review of …, 2021 - Taylor & Francis
Objective Seizures are a primary and early disease manifestation of Tuberous Sclerosis
Complex (TSC). We aimed to describe the age-stratified patterns of antiseizure drug (ASD) …
Complex (TSC). We aimed to describe the age-stratified patterns of antiseizure drug (ASD) …
Homozygous dystroglycan mutation associated with a novel muscle–eye–brain disease-like phenotype with multicystic leucodystrophy
T Geis, K Marquard, T Rödl, C Reihle, S Schirmer… - Neurogenetics, 2013 - Springer
Defects in dystroglycan post-translational modification result in congenital muscular
dystrophy with or without additional eye and brain involvement, are referred to as secondary …
dystrophy with or without additional eye and brain involvement, are referred to as secondary …
[HTML][HTML] Efficacy, retention and tolerability of everolimus in patients with tuberous sclerosis complex: a survey-based study on patients' perspectives
LM Willems, F Rosenow, S Schubert-Bast… - CNS drugs, 2021 - Springer
Background The approval of everolimus (EVE) for the treatment of angiomyolipoma (2013),
subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients …
subependymal giant cell astrocytoma (2013) and drug-refractory epilepsy (2017) in patients …
Health-related quality of life in children and adolescents with tuberous sclerosis complex and their caregivers: a multicentre cohort study from Germany
LM Willems, S Schubert-Bast, J Grau… - European Journal of …, 2021 - Elsevier
Objective This study aimed to measure health-related quality of life (HRQOL) in children and
adolescents with tuberous sclerosis complex (TSC) and quality of life (QOL) and depressive …
adolescents with tuberous sclerosis complex (TSC) and quality of life (QOL) and depressive …
[HTML][HTML] Direct and indirect costs and cost-driving factors of Tuberous sclerosis complex in children, adolescents, and caregivers: a multicenter cohort study
J Grau, JP Zöllner, S Schubert-Bast… - Orphanet journal of rare …, 2021 - Springer
Background Tuberous sclerosis complex (TSC), a multisystem genetic disorder, affects
many organs and systems, characterized by benign growths. This German multicenter study …
many organs and systems, characterized by benign growths. This German multicenter study …
Proton spectroscopy in five patients with Leigh's disease and mitochondrial enzyme deficiency
I Krägeloh‐Mann, W Grodd, M Schöning… - … Medicine & Child …, 1993 - Wiley Online Library
Five children with Leigh's disease and progressive neurological symptoms were compared
with 14 control children. In all patients, MRI showed bilateral lesions of the putamin and …
with 14 control children. In all patients, MRI showed bilateral lesions of the putamin and …