The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Case definition and classification of leukodystrophies and leukoencephalopathies
Open accessAbstract
Objective An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers efforts to study the epidemiology and the relevance of genetic white matter disorders to public health. Method Thirteen experts at multiple institutions participated in iterative consensus building surveys to achieve definition and classification of disorders as leukodystrophies using a modified Delphi approach. Results A case definition for the leukodystrophies was achieved, and a total of 30 disorders were classified under this definition. In addition, a separate set of disorders with heritable white matter abnormalities but not meeting criteria for leukodystrophy, due to presumed primary neuronal involvement and prominent systemic manifestations, was classified as genetic leukoencephalopathies (gLE). Interpretation A case definition of leukodystrophies and classification of heritable white matter disorders will permit more detailed epidemiologic studies of these disorders.
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Citations
Cites
Invited article: an MRI-based approach to the diagnosis of white matter disorders
Schiffmann, R., & van der Knaap, M. S. (2009) · Neurology · doi:10.1212/01.wnl.0000343049.00540.c8 · Cited by 553
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Cited by
Eldridge, S. M., Lancaster, G. A., Campbell, M. J., Thabane, L., Hopewell, S., Coleman, C. L., & Bond, C. M. (2016) · PLOS ONE · doi:10.1371/journal.pone.0150205 · Cited by 1,581
van der Knaap, M. S., & Bugiani, M. (2017) · Acta Neuropathologica · doi:10.1007/s00401-017-1739-1 · Cited by 403
CSF1R -related leukoencephalopathy: A major player in primary microgliopathies
Konno, T., Kasanuki, K., Ikeuchi, T., Dickson, D. W., & Wszolek, Z. K. (2018) · Neurology · doi:10.1212/wnl.0000000000006642 · Cited by 208
Diagnosis, prognosis, and treatment of leukodystrophies
van der Knaap, M. S., Schiffmann, R., Mochel, F., & Wolf, N. I. (2019) · The Lancet Neurology · doi:10.1016/s1474-4422(19)30143-7 · Cited by 175
Self-citationWhole 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 · doi:10.1002/ana.24650 · Cited by 145
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Metadata
- Authors
- Vanderver, A., Prust, M., Tonduti, D., Mochel, F., Hussey, H. M., Helman, G., Garbern, J., Eichler, F., Labauge, P., Aubourg, P., Rodriguez, D., Patterson, M. C., Van Hove, J. L. K., Schmidt, J., Wolf, N. I., Boespflug-Tanguy, O., Schiffmann, R., & van der Knaap, M. S.
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2015-04
- Volume
- 114
- Issue
- 4
- Pages
- 494-500
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W2091175651
- Cited by
- 265
- References
- 1
- FWCI
- 12.91
- Type
- journal article
- Language
- en
- Open access
- green
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- Vanderver, A., Prust, M., Tonduti, D., Mochel, F., Hussey, H. M., Helman, G., Garbern, J., Eichler, F., Labauge, P., Aubourg, P., Rodriguez, D., Patterson, M. C., Van Hove, J. L. K., Schmidt, J., Wolf, N. I., Boespflug-Tanguy, O., Schiffmann, R., & van der Knaap, M. S. (2015). Case definition and classification of leukodystrophies and leukoencephalopathies. Molecular Genetics and Metabolism. https://doi.org/10.1016/j.ymgme.2015.01.006
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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