Results
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Confirmation of Atypical Presentation With Nonprogressive Leukodystrophy in eIF2B-Related Disorders. [electronic resource] by
- Scappaticci, Clémence
- Van-Gils, Julien
- Samaan, Simon
- Bessou, Pierre
- Lacombe, Didier
- Chateil, Jean-François
- Pedespan, Jean-Michel
- Saves, Jean-Luc
- Boespflug-Tanguy, Odile
- Goizet, Cyril
Producer: 20200826
In:
Pediatric neurology vol. 100
Availability: No items available.
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A 66-year-old patient with vanishing white matter disease due to the p.Ala87Val EIF2B3 mutation. [electronic resource] by
- Ghezzi, Laura
- Scarpini, Elio
- Rango, Mario
- Arighi, Andrea
- Bassi, Maria Teresa
- Tenderini, Erika
- De Riz, Milena
- Jacini, Francesca
- Fumagalli, Giorgio G
- Pietroboni, Anna M
- Galimberti, Daniela
- Bresolin, Nereo
Producer: 20130116
In:
Neurology vol. 79
Availability: No items available.
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Foetal onset of EIF2B related disorder in two siblings: cerebellar hypoplasia with absent Bergmann glia and severe hypomyelination. [electronic resource] by
- Trimouille, Aurélien
- Marguet, Florent
- Sauvestre, Fanny
- Lasseaux, Eulalie
- Pelluard, Fanny
- Martin-Négrier, Marie-Laure
- Plaisant, Claudio
- Rooryck, Caroline
- Lacombe, Didier
- Arveiler, Benoît
- Boespflug-Tanguy, Odile
- Naudion, Sophie
- Laquerrière, Annie
Producer: 20210531
In:
Acta neuropathologica communications vol. 8
Availability: No items available.
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A Japanese girl with an early-infantile onset vanishing white matter disease resembling Cree leukoencephalopathy. [electronic resource] by
- Takano, Kyoko
- Tsuyusaki, Yu
- Sato, Mutsumi
- Takagi, Mariko
- Anzai, Rie
- Okuda, Mitsuko
- Iai, Mizue
- Yamashita, Sumimasa
- Okabe, Tetsuhiko
- Aida, Noriko
- Tsurusaki, Yoshinori
- Saitsu, Hirotomo
- Matsumoto, Naomichi
- Osaka, Hitoshi
Producer: 20160113
In:
Brain & development vol. 37
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