All Stories

  1. Large exonic deletions in POLRB gene cause POLR3-related leukodystrophy

    Article • Orphanet Journal of Rare Diseases, June 2015, Springer Science + Business Media

    Dr Nicole I Wolf

  2. POLR3A and POLR3B Mutations in Unclassified Hypomyelination

    Article • Neuropediatrics, May 2015, Thieme Publishing Group

    Dr Nicole I Wolf

  3. Altered PLP1 splicing causes disease

    Article • Annals of Clinical and Translational Neurology, May 2015, Wiley

    Dr Nicole I Wolf

  4. Case definition and classification of leukodystrophies and leukoencephalopathies

    Article • Molecular Genetics and Metabolism, April 2015, Elsevier

    Dr Nicole I Wolf, Professor Marc C Patterson

  5. Eyes on MEGDEL: Distinctive Basal Ganglia Involvement in Dystonia Deafness Syndrome

    Article • Neuropediatrics, February 2015, Thieme Publishing Group

    Dr Nicole I Wolf

  6. DARS-associated leukoencephalopathy can mimic a steroid-responsive neuroinflammatory disorder

    Article • Neurology, December 2014, Wolters Kluwer Health

    Dr Nicole I Wolf

  7. Clinical spectrum of 4H leukodystrophy caused by POLR3A and POLR3B mutations

    Article • Neurology, October 2014, Wolters Kluwer Health

    Dr Nicole I Wolf

  8. Occasional seizures, epilepsy, and inborn errors of metabolism

    Article • The Lancet Neurology, July 2014, Elsevier

    Dr Nicole I Wolf

  9. Nicole Wolf

    Article • The Lancet Neurology, July 2014, Elsevier

    Dr Nicole I Wolf

  10. Hypomyelinating leukodystrophies: Translational research progress and prospects

    Article • Annals of Neurology, June 2014, Wiley

    Dr Nicole I Wolf

  11. Mutations inRARScause hypomyelination

    Article • Annals of Neurology, May 2014, Wiley

    Dr Nicole I Wolf

  12. Novel (ovario) leukodystrophy related to AARS2 mutations

    Article • Neurology, May 2014, Wolters Kluwer Health

    Dr Nicole I Wolf

  13. Improvement of White Matter Changes on Neuroimaging Modalities After Stem Cell Transplant in Metachromatic Leukodystrophy

    Article • JAMA Neurology, June 2013, American Medical Association (AMA)

    Dr Nicole I Wolf

  14. Mutations in DARS Cause Hypomyelination with Brain Stem and Spinal Cord Involvement and Leg Spasticity

    Article • The American Journal of Human Genetics, May 2013, Elsevier

    Dr Nicole I Wolf

  15. NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern

    Article • Neurology, April 2013, Wolters Kluwer Health

    Dr Nicole I Wolf

  16. Exome sequencing reveals mutated SLC19A3 in patients with an early-infantile, lethal encephalopathy

    Article • Brain, March 2013, Oxford University Press (OUP)

    Dr Nicole I Wolf

  17. Novel Hypomyelinating Leukoencephalopathy Affecting Early Myelinating Structures: Clinical Course in Two Brothers

    Article • Neuropediatrics, January 2013, Thieme Publishing Group

    Dr Nicole I Wolf

  18. Progressive cerebellar atrophy

    Article • January 2013, Elsevier

    Dr Nicole I Wolf

  19. Kohlschütter-Tönz Syndrome: Mutations inROGDIand Evidence of Genetic Heterogeneity

    Article • Human Mutation, November 2012, Wiley

    Dr Nicole I Wolf

  20. Epileptic encephalopathy and amelogenesis imperfecta: Kohlschütter–Tönz syndrome

    Article • European Journal of Medical Genetics, May 2012, Elsevier

    Dr Nicole I Wolf

  21. Mutations in ROGDI Cause Kohlschütter-Tönz Syndrome

    Article • The American Journal of Human Genetics, April 2012, Elsevier

    Dr Nicole I Wolf

  22. Characteristics of Early MRI in Children and Adolescents with Vanishing White Matter

    Article • Neuropediatrics, February 2012, Thieme Publishing Group

    Dr Nicole I Wolf

  23. Genetic and Metabolic Disorders of the White Matter

    Article • January 2012, Elsevier

    Dr Nicole I Wolf

  24. Leucoencephalopathy with brainstem and spinal cord involvement and high lactate: quantitative magnetic resonance imaging

    Article • Brain, October 2011, Oxford University Press (OUP)

    Dr Nicole I Wolf

  25. Adult-onset autosomal dominant leukodystrophy due to LMNB1 gene duplication

    Article • Deutsche Zeitschrift für Nervenheilkunde, September 2011, Springer Science + Business Media

    Dr Nicole I Wolf

  26. N -Acetylaspartylglutamate in CNS Hypomyelination

    Article • Neuropediatrics, April 2011, Thieme Publishing Group

    Dr Nicole I Wolf

  27. Clinical characterization of patients with early infantile onset of autosomal recessive GTP cyclohydrolase I deficiency without hyperphenylalaninemia

    Article • Neuropediatrics, March 2011, Thieme Publishing Group

    Dr Nicole I Wolf

  28. Magnetic resonance imaging pattern recognition in hypomyelinating disorders

    Article • Brain, September 2010, Oxford University Press (OUP)

    Dr Nicole I Wolf

  29. A non-enzymatic function of 17β-hydroxysteroid dehydrogenase type 10 is required for mitochondrial integrity and cell survival

    Article • EMBO Molecular Medicine, February 2010, EMBO

    Dr Nicole I Wolf

  30. Suspected Mitochondrial Disorder

    Article • January 2010, Springer Science + Business Media

    Dr Nicole I Wolf

  31. Neurological Disease

    Article • January 2010, Springer Science + Business Media

    Dr Nicole I Wolf

  32. Hypomyelination versus delayed myelination

    Article • Annals of Neurology, June 2009, Wiley

    Dr Nicole I Wolf

  33. Status epilepticus in children with Alpers’ disease caused byPOLG1mutations: EEG and MRI features

    Article • Epilepsia, June 2009, Wiley

    Dr Nicole I Wolf

  34. Abnormal myelination in Angelman syndrome

    Article • European Journal of Paediatric Neurology, May 2009, Elsevier

    Dr Nicole I Wolf

  35. Band-like intracranial calcification with simplified gyration and polymicrogyria: A distinct “pseudo-TORCH” phenotype

    Article • American Journal of Medical Genetics Part A, December 2008, Wiley

    Dr Nicole I Wolf

  36. Differential diagnosis of cerebellar atrophy in childhood

    Article • European Journal of Paediatric Neurology, May 2008, Elsevier

    Andrea Poretti, Dr Nicole I Wolf

  37. Epileptische Enzephalopathie und Zahnschmelzdefekt (Kohlschütter-Tönz-Syndrom)

    Article • Medizinische Genetik, November 2007, Springer Science + Business Media

    Dr Nicole I Wolf

  38. Treatable neonatal epilepsy

    Article • Archives of Disease in Childhood, April 2007, BMJ

    Dr Nicole I Wolf

  39. Ataxia, Delayed Dentition and Hypomyelination: A Novel Leukoencephalopathy

    Article • Neuropediatrics, April 2007, Thieme Publishing Group

    Dr Nicole I Wolf

  40. Combination of caudal myxopapillary ependymoma and dermal sinus: a single shared embryologic lesion?

    Article • Developmental Medicine & Child Neurology, February 2007, Wiley

    Dr Nicole I Wolf

  41. Pyridoxal 5′-phosphate may be curative in early-onset epileptic encephalopathy

    Article • Journal of Inherited Metabolic Disease, December 2006, Springer Science + Business Media

    Dr Nicole I Wolf

  42. Frameshift mutation in GJA12 leading to nystagmus, spastic ataxia and CNS dys-/demyelination

    Article • Neurogenetics, September 2006, Springer Science + Business Media

    Dr Nicole I Wolf

  43. Mutations in SIL1 cause Marinesco-Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

    Article • Nature Genetics, November 2005, Nature

    Dr Nicole I Wolf

  44. Leukoencephalopathy with ataxia, hypodontia, and hypomyelination

    Article • Neurology, April 2005, Wolters Kluwer Health

    Dr Nicole I Wolf

  45. Three or more copies of the proteolipid protein gene PLP1 cause severe Pelizaeus-Merzbacher disease

    Article • Brain, February 2005, Oxford University Press (OUP)

    Dr Nicole I Wolf

  46. T2-hyperintense cerebellar cortex in Marinesco-Sjogren syndrome

    Article • Neurology, December 2004, Wolters Kluwer Health

    Dr Nicole I Wolf

  47. Severe hypomyelination associated with increased levels of N-acetylaspartylglutamate in CSF

    Article • Neurology, May 2004, Wolters Kluwer Health

    Dr Nicole I Wolf

  48. Combination of caudal myxopapillary ependymoma and dermal sinus: a single shared embryologic lesion?

    Article • Developmental Medicine & Child Neurology, August 2003, Wiley

    Dr Nicole I Wolf

  49. Current concepts of mitochondrial disorders in childhood

    Article • Seminars in Pediatric Neurology, June 2002, Elsevier

    Dr Nicole I Wolf

  50. Expression of neurotrophin receptors trkB and trkC and their ligands in rat adrenal gland and the intermediolateral column of the spinal cord

    Article • Cell and Tissue Research, April 1999, Springer Science + Business Media

    Dr Nicole I Wolf

  51. Transforming growth factor-β, but not ciliary neurotrophic factor, inhibits DNA synthesis of adrenal medullary cells in vitro

    Article • Neuroscience, February 1999, Elsevier

    Dr Nicole I Wolf

  52. TGF-β Rescues Target-deprived Preganglionic Sympathetic Neurons in the Spinal Cord

    Article • European Journal of Neuroscience, January 1996, Wiley

    Dr Nicole I Wolf

  53. Phenotypic development of neonatal rat chromaffin cells in response to adrenal growth factors and glucocorticoids: focus on pituitary adenylate cyclase activating polypeptide

    Article • Neuroscience Letters, November 1995, Elsevier

    Dr Nicole I Wolf