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 KraegelohMann - …, 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 …

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 …

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 …

Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy

…, J Peters, KD Gerbitz, I KraegelohMann… - 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 …

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 KraegelohMann… - 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 …

[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 …

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 …

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. …

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 …

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 …