Benign partial epilepsy in childhood: selective cognitive deficits are related to the location of focal spikes determined by combined EEG/MEG
…, E Serra, H Preissl, N Birbaumer, I Kraegeloh‐Mann - …, 2005 - Wiley Online Library
Purpose: Benign partial epilepsy (BPE) in childhood is characterized by the occurrence of
interictal stereotyped focal spikes with variable localization in the EEG. Children with BPE …
interictal stereotyped focal spikes with variable localization in the EEG. Children with BPE …
Metachromatic leukodystrophy: a scoring system for brain MR imaging observations
…, DJ Loes, I Kraegeloh-Mann - American Journal …, 2009 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Metachromatic leukodystrophy (MLD) is a devastating
demyelinating disease for which novel therapies are being tested. We hypothesized that MR …
demyelinating disease for which novel therapies are being tested. We hypothesized that MR …
Long-term cognitive and neurological outcome of preterm infants with postnatally acquired CMV infection through breast milk
…, A Bevot, K Hamprecht, I Kraegeloh-Mann… - Archives of Disease in …, 2013 - fn.bmj.com
Introduction Long-term follow-up data on preterm infants with breast milk–acquired postnatal
cytomegalovirus (CMV) infection are sparse. Aim To systematically evaluate the long-term …
cytomegalovirus (CMV) infection are sparse. Aim To systematically evaluate the long-term …
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
…, J Peters, KD Gerbitz, I Kraegeloh–Mann… - Neurology, 2001 - AAN Enterprises
Objective: To report three unrelated infants with a distinctive phenotype of Leigh-like
syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The …
syndrome, neurogenic muscular atrophy, and hypertrophic obstructive cardiomyopathy. The …
Extremely low arylsulfatase A enzyme activity does not necessarily cause symptoms: A long‐term follow‐up and review of the literature
…, G Bruchelt, K Harzer, I Kraegeloh‐Mann… - JIMD …, 2022 - Wiley Online Library
Metachromatic leukodystrophy (MLD) is an autosomal recessive lysosomal storage disease
caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing …
caused by deficiency of arylsulfatase A (ARSA). Heterozygous carriers of disease‐causing …
[HTML][HTML] Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy
…, DA Koolen, A Riess, I Kraegeloh-Mann… - Nature …, 2020 - nature.com
Developmental epileptic encephalopathies are devastating disorders characterized by
intractable epileptic seizures and developmental delay. Here, we report an allelic series of …
intractable epileptic seizures and developmental delay. Here, we report an allelic series of …
Pharmacotherapy of attention deficit in neurofibromatosis type 1: effects on cognition
…, S Granstroem, RA Leark, I Kraegeloh-Mann… - …, 2014 - thieme-connect.com
Aim Attention deficit with or without hyperactivity (AD[H]D) is a common comorbidity of
neurofibromatosis type 1 (NF 1). We tested the hypothesis that permanent medication with …
neurofibromatosis type 1 (NF 1). We tested the hypothesis that permanent medication with …
Clinical significance of diffusion tensor imaging in metachromatic leukodystrophy
…, U Klose, T Naegele, I Kraegeloh-Mann… - …, 2023 - thieme-connect.com
Background Metachromatic leukodystrophy (MLD) is a lysosomal enzyme deficiency disorder
leading to progressive demyelination and, consecutively, to cognitive and motor decline. …
leading to progressive demyelination and, consecutively, to cognitive and motor decline. …
Severe hypomyelination as the leading neuroradiological sign in a patient with fucosidosis
V Prietsch, S Arnold, I Kraegeloh-Mann… - …, 2008 - thieme-connect.com
Fucosidosis is a rare autosomal recessive lysosomal storage disease, resulting from a
deficiency of alpha-l-fucosidase. We report on the clinical and MRI findings of a girl with this …
deficiency of alpha-l-fucosidase. We report on the clinical and MRI findings of a girl with this …
Comparative analysis of cerebral magnetic resonance imaging changes in nontreated infantile, juvenile and adult patients with niemann-pick disease type C
…, K Harzer, M Stampfer, I Kraegeloh-Mann - …, 2020 - thieme-connect.com
Aim The study aims to describe cerebral MRI in different onset forms of Niemann-Pick type
C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the …
C (NPC). Systematic MRI analyses in this rare lysosomal storage disease are lacking in the …