Boltshauser
Fakultäten » Medizinische Fakultät » Kinderspital Zürich: Medizinische Klinik » Neuropädiatrie, Abteilung » Prof. Dr. Eugen Boltshauser (emeritiert) » Boltshauser
Completed research project
| Title / Titel | White matter disorders: delineation of further types | ||||||
|---|---|---|---|---|---|---|---|
| Abstract (PDF, 14 KB) | |||||||
| Summary / Zusammenfassung | In about half of the patients with imaging evidence of white matter disease (leukodystrophies) the underlying disorder is still unknown. We attempt to define additional white matter disorders in A) studying own patients/series B) collaborating in corresponding "networks" of similarly interested colleagues. |
||||||
| Publications / Publikationen | Wolf NI, Harting I, Boltshauser E et al :Leukoencephalopathy with ataxia, hypodontia, andhypomyelination.Neurology2005;64:14614 Yalcinkaya C, Irslanoglu I, Islak C et al. Progressive white matter disease with primary cerebellar involvement: a separate entity? Neuroradiology2002;44:775-779Boltshauser E, Barth PG, Troost D et al. "Vanishing white matter" and ovarian dysgenesis in an infant with cerebro-oculo-facio-skeletal phenotype. Neuropediatrics 2002;33:57-62Van der Knaap MS, van Berkel CGM, Herms J et al. elF2B-related disorders: antenatal onset and involvement of multiple organs. Am J Hum Genet 2003;73:1199-1207Wolf NI et al.Boltshauser E,Rating D: Ataxia, delayed dentition and hypomyelination: a novel leukoencephalopathy. Neuropediatrics 2007;38:64-70 |
||||||
| Keywords / Suchbegriffe | white matter disease,leukodystrophy | ||||||
| Project leadership and contacts / Projektleitung und Kontakte |
|
||||||
| Funding source(s) / Unterstützt durch |
Others no funding |
||||||
| In collaboration with / In Zusammenarbeit mit |
|
||||||
| Duration of Project / Projektdauer | Jan 2002 to Apr 2009 |