N I Wolf

Summary

Affiliation: University of Heidelberg
Country: Germany

Publications

  1. ncbi Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency
    N I Wolf
    Department of Paediatric Neurology, Division of Metabolic Disorders, University Children s Hospital, Heidelberg, Germany
    J Inherit Metab Dis 27:291-3. 2004
  2. ncbi Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
    N I Wolf
    Department of Pediatric Neurology, University Children s Hospital Heidelberg, Heidelberg, Germany
    Neurology 64:1461-4. 2005
  3. ncbi Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination
    Nicole I Wolf
    Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK
    Neurogenetics 8:39-44. 2007
  4. ncbi Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy
    N I Wolf
    Department of Paediatric Neurology, University Children s Hospital, Heidelberg, Germany
    Neuropediatrics 38:64-70. 2007
  5. ncbi Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF
    N I Wolf
    Department of Pediatric Neurology, University Children s Hospital Heidelberg, Germany
    Neurology 62:1503-8. 2004
  6. ncbi New pattern of brain MRI lesions in isolated complex I deficiency
    N I Wolf
    Department of Paediatric Neurology, University Children s Hospital Heidelberg, Germany
    Neuropediatrics 34:156-9. 2003
  7. ncbi T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome
    I Harting
    Department of Neuroradiology, University of Heidelberg Medical Centre, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany
    Neurology 63:2448-9. 2004
  8. ncbi Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy
    G F Hoffmann
    Department of General Pediatrics, Ruprecht Karls University Heidelberg, Heidelberg, Germany
    J Inherit Metab Dis 30:96-9. 2007
  9. ncbi A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain
    K Shimomura
    University Laboratory of Physiology, Parks Road, Oxford OX1 3PT, UK
    Neurology 69:1342-9. 2007

Detail Information

Publications9

  1. ncbi Sedation with 4-hydroxybutyric acid: a potential pitfall in the diagnosis of SSADH deficiency
    N I Wolf
    Department of Paediatric Neurology, Division of Metabolic Disorders, University Children s Hospital, Heidelberg, Germany
    J Inherit Metab Dis 27:291-3. 2004
    ..We present a boy with an unresolved severe neurological disorder and intermittent elevation of 4-HBA in serum and CSF which was later shown to result from iatrogenic administration of 4-HBA for sedation purposes...
  2. ncbi Leukoencephalopathy with ataxia, hypodontia, and hypomyelination
    N I Wolf
    Department of Pediatric Neurology, University Children s Hospital Heidelberg, Heidelberg, Germany
    Neurology 64:1461-4. 2005
    ..Cerebral MRI shows hypomyelinated white matter and cerebellar atrophy; 1H-MRS of white matter reveals a marked elevation of myo-inositol...
  3. ncbi Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination
    Nicole I Wolf
    Clinical and Molecular Genetics Unit, Institute of Child Health, London, UK
    Neurogenetics 8:39-44. 2007
    ..In children with nystagmus, ataxia and dysmyelination, mutation analysis of GJA12 should be considered early, especially if inheritance is autosomal recessive...
  4. ncbi Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy
    N I Wolf
    Department of Paediatric Neurology, University Children s Hospital, Heidelberg, Germany
    Neuropediatrics 38:64-70. 2007
    ..With the characteristic tooth abnormalities it should be straightforward to identify new patients in order to facilitate the search for the underlying genetic defect...
  5. ncbi Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF
    N I Wolf
    Department of Pediatric Neurology, University Children s Hospital Heidelberg, Germany
    Neurology 62:1503-8. 2004
    ..The clinical features and MR images of both patients resembled the connatal form of Pelizaeus-Merzbacher disease (PMD), which is an X-linked recessive disorder caused by duplications or mutations of the proteolipid protein gene (PLP)...
  6. ncbi New pattern of brain MRI lesions in isolated complex I deficiency
    N I Wolf
    Department of Paediatric Neurology, University Children s Hospital Heidelberg, Germany
    Neuropediatrics 34:156-9. 2003
    ..By means of biochemical analysis of respiratory chain enzymes in fibroblasts, the diagnosis of an isolated complex I deficiency could be established in our patient...
  7. ncbi T2-hyperintense cerebellar cortex in Marinesco-Sjögren syndrome
    I Harting
    Department of Neuroradiology, University of Heidelberg Medical Centre, Im Neuenheimer Feld 400, 69120 Heidelberg, Germany
    Neurology 63:2448-9. 2004
  8. ncbi Pyridoxal 5'-phosphate may be curative in early-onset epileptic encephalopathy
    G F Hoffmann
    Department of General Pediatrics, Ruprecht Karls University Heidelberg, Heidelberg, Germany
    J Inherit Metab Dis 30:96-9. 2007
    ..Prompt treatment with PLP in all neonates and infants with epileptic encephalopathy should become mandatory, permitting normal development in at least some of those affected with PNPO deficiency...
  9. ncbi A novel mutation causing DEND syndrome: a treatable channelopathy of pancreas and brain
    K Shimomura
    University Laboratory of Physiology, Parks Road, Oxford OX1 3PT, UK
    Neurology 69:1342-9. 2007
    ..The aim of this study was to determine the clinical effects, functional cause, and sensitivity to sulfonylurea treatment of a novel KCNJ11 mutation producing DEND syndrome...