Wolf, Nicole I.

Diagnosis, prognosis, and treatment of leukodystrophies

van der Knaap, M. S., Schiffmann, R., Mochel, F., & Wolf, N. I. (2019) · The Lancet Neurology

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 175

Whole exome sequencing in patients with white matter abnormalities

Vanderver, A., Simons, C., Helman, G., Crawford, J., Wolf, N. I., Bernard, G., Pizzino, A., Schmidt, J. L., Takanohashi, A., Miller, D., et al. (2016) · Annals of Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 145

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

O'Driscoll, M. C., Daly, S. B., Urquhart, J. E., Black, G. C. M., Pilz, D. T., Brockmann, K., McEntagart, M., Abdel-Salam, G., Zaki, M., Wolf, N. I., et al. (2010) · The American Journal of Human Genetics

Fetal and Pediatric Neurological DisordersBarrier Structure and Function Studies

Cited by 145

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

Groeneweg, S., Peeters, R. P., Moran, C., Stoupa, A., Auriol, F., Tonduti, D., Dica, A., Paone, L., Rozenkova, K., Malikova, J., et al. (2019) · The Lancet Diabetes & Endocrinology

Thyroid Disorders and TreatmentsMetabolism and Genetic Disorders

Cited by 129

Update on leukodystrophies: A historical perspective and adapted definition

Kevelam, S., Steenweg, M., Srivastava, S., Helman, G., Naidu, S., Schiffmann, R., Blaser, S., Vanderver, A., Wolf, N., & van der Knaap, M. (2016) · Neuropediatrics

Hereditary Neurological DisordersMetabolism and Genetic Disorders

Cited by 112

Leukoencephalopathy with brainstem and spinal cord involvement and lactate elevation: clinical and genetic characterization and target for therapy

van Berge, L., Hamilton, E. M., Linnankivi, T., Uziel, G., Steenweg, M. E., Isohanni, P., Wolf, N. I., Krageloh-Mann, I., Brautaset, N. J., Andrews, P. I., et al. (2014) · Brain

Metabolism and Genetic DisordersMitochondrial Function and Pathology

Cited by 109

Abnormal myelination in Angelman syndrome

Harting, I., Seitz, A., Rating, D., Sartor, K., Zschocke, J., Janssen, B., Ebinger, F., & Wolf, N. I. (2009) · European Journal of Paediatric Neurology

Genetic Syndromes and ImprintingGenomic variations and chromosomal abnormalities

Cited by 58

X-linked hypomyelination with spondylometaphyseal dysplasia (H-SMD) associated with mutations in AIFM1

Miyake, N., Wolf, N. I., Cayami, F. K., Crawford, J., Bley, A., Bulas, D., Conant, A., Bent, S. J., Gripp, K. W., Hahn, A., et al. (2017) · neurogenetics

Genetics and Neurodevelopmental DisordersGenomics and Rare Diseases

Cited by 48

Genome sequencing in persistently unsolved white matter disorders

Helman, G., Lajoie, B. R., Crawford, J., Takanohashi, A., Walkiewicz, M., Dolzhenko, E., Gross, A. M., Gainullin, V. G., Bent, S. J., Jenkinson, E. M., et al. (2020) · Annals of Clinical and Translational Neurology

Genomics and Rare DiseasesHereditary Neurological Disorders

Cited by 39

Human post-mortem organotypic brain slice cultures: a tool to study pathomechanisms and test therapies

Plug, B. C., Revers, I. M., Breur, M., González, G. M., Timmerman, J. A., Meijns, N. R. C., Hamberg, D., Wagendorp, J., Nutma, E., Wolf, N. I., et al. (2024) · Acta Neuropathologica Communications

Neurological Disease Mechanisms and TreatmentsNeuroscience and Neuropharmacology Research

Cited by 25

Treatment of leukodystrophies: Advances and challenges.

Wolf, N. I., van der Knaap, M. S., & Engelen, M. (2025) · European Journal of Paediatric Neurology

Metabolism and Genetic DisordersLysosomal Storage Disorders Research

Cited by 11