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Disease specific therapies in leukodystrophies and leukoencephalopathies. [electronic resource] by
- Helman, Guy
- Van Haren, Keith
- Bonkowsky, Joshua L
- Bernard, Genevieve
- Pizzino, Amy
- Braverman, Nancy
- Suhr, Dean
- Patterson, Marc C
- Ali Fatemi, S
- Leonard, Jeff
- van der Knaap, Marjo S
- Back, Stephen A
- Damiani, Stephen
- Goldman, Steven A
- Takanohashi, Asako
- Petryniak, Magdalena
- Rowitch, David
- Messing, Albee
- Wrabetz, Lawrence
- Schiffmann, Raphael
- Eichler, Florian
- Escolar, Maria L
- Vanderver, Adeline
Producer: 20160122
In:
Molecular genetics and metabolism vol. 114
Availability: No items available.
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A Novel CSF1R Mutation in a Patient with Clinical and Neuroradiological Features of Hereditary Diffuse Leukoencephalopathy with Axonal Spheroids. [electronic resource] by
- Di Donato, Ilaria
- Stabile, Carmen
- Bianchi, Silvia
- Taglia, Ilaria
- Mignarri, Andrea
- Salvatore, Simona
- Giorgio, Elisa
- Brusco, Alfredo
- Simone, Isabella
- Dotti, Maria Teresa
- Federico, Antonio
Producer: 20160712
In:
Journal of Alzheimer's disease : JAD vol. 47
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KARS-related diseases: progressive leukoencephalopathy with brainstem and spinal cord calcifications as new phenotype and a review of literature. [electronic resource] by
- Ardissone, Anna
- Tonduti, Davide
- Legati, Andrea
- Lamantea, Eleonora
- Barone, Rita
- Dorboz, Imen
- Boespflug-Tanguy, Odile
- Nebbia, Gabriella
- Maggioni, Marco
- Garavaglia, Barbara
- Moroni, Isabella
- Farina, Laura
- Pichiecchio, Anna
- Orcesi, Simona
- Chiapparini, Luisa
- Ghezzi, Daniele
Producer: 20190314
In:
Orphanet journal of rare diseases vol. 13
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