Nicole I. Wolf

Research interests

Publications

• Hypomyelinating leukodystrophies — unravelling myelin biology

  Nature Reviews Neurology · 2020 · 10.1038/s41582-020-00432-1

• Diagnosis, prognosis, and treatment of leukodystrophies

  The Lancet Neurology · 2019 · 10.1016/s1474-4422(19)30143-7

• Effectiveness and safety of the tri-iodothyronine analogue Triac in children and adults with MCT8 deficiency: an international, single-arm, open-label, phase 2 trial

  The Lancet Diabetes & Endocrinology · 2019 · 10.1016/s2213-8587(19)30155-x

• Aminoacyl-tRNA synthetase deficiencies in search of common themes

  Genetics in Medicine · 2018 · 10.1038/s41436-018-0048-y

• Whole exome sequencing in patients with white matter abnormalities

  Annals of Neurology · 2016 · 10.1002/ana.24650

• Recessive mutations in POLR1C cause a leukodystrophy by impairing biogenesis of RNA polymerase III

  Nature Communications · 2015 · 10.1038/ncomms8623

• Case definition and classification of leukodystrophies and leukoencephalopathies

  Molecular Genetics and Metabolism · 2015 · 10.1016/j.ymgme.2015.01.006

• Novel (ovario) leukodystrophy related to AARS2 mutations

  Neurology · 2014 · 10.1212/wnl.0000000000000497

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

  Neurology · 2014 · 10.1212/wnl.0000000000001002

• Hypomyelinating leukodystrophies: Translational research progress and prospects

  Annals of Neurology · 2014 · 10.1002/ana.24194

• Metachromatic leukodystrophy: Disease spectrum and approaches for treatment

  Best Practice & Research Clinical Endocrinology & Metabolism · 2014 · 10.1016/j.beem.2014.10.001

• Hypomyelination with atrophy of the basal ganglia and cerebellum: further delineation of the phenotype and genotype–phenotype correlation

  Brain · 2014 · 10.1093/brain/awu110

• Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

  Brain · 2014 · 10.1093/brain/awu051

• Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

  The Lancet Neurology · 2013 · 10.1016/s1474-4422(13)70053-x

• A De Novo Mutation in the β-Tubulin Gene TUBB4A Results in the Leukoencephalopathy Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum

  The American Journal of Human Genetics · 2013 · 10.1016/j.ajhg.2013.03.018

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

  The American Journal of Human Genetics · 2013 · 10.1016/j.ajhg.2013.04.006

• Magnetic resonance imaging pattern recognition in hypomyelinating disorders

  Brain · 2010 · 10.1093/brain/awq257

• Recessive Mutations in the Gene Encoding the Tight Junction Protein Occludin Cause Band-like Calcification with Simplified Gyration and Polymicrogyria

  The American Journal of Human Genetics · 2010 · 10.1016/j.ajhg.2010.07.012

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

  Epilepsia · 2008 · 10.1111/j.1528-1167.2008.01877.x

• The in-depth evaluation of suspected mitochondrial disease

  Molecular Genetics and Metabolism · 2008 · https://doi.org/10.1016/j.ymgme.2007.11.018

• Mitochondrial Disease: A Practical Approach for Primary Care Physicians

  PEDIATRICS · 2007 · 10.1542/peds.2007-0391

• Pyridoxal 5′‐phosphate may be curative in early‐onset epileptic encephalopathy

  Journal of Inherited Metabolic Disease · 2006 · 10.1007/s10545-006-0508-4

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

  Nature Genetics · 2005 · 10.1038/ng1678

• De novoSCN1Amutations are a major cause of severe myoclonic epilepsy of infancy

  Human Mutation · 2003 · 10.1002/humu.10217

• Mitochondrial disorders

  Neurology · 2002 · 10.1212/01.wnl.0000031795.91814.d8

Current projects

No projects listed.