MMG PUBLICATIONS

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Results: 4196  publications found.

resulting in the partial deletion of WASF1 in monozygotic twins, .  et al. 0

and three missense variants

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the white matter abnormalities showed a peculiar evolution from severe hypomyelination at 4 months to patchy lesions later in childhood. Taken as a, .  et al. 0

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Neurobiol Dis. 2011 Feb, .  et al. 0

Panayotis N

10.1016/j.nbd.2010.10.006
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, .  et al. 0

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Fallet-Bianco C, .  et al. 0

Specchio N

Baulac M
- issue: Beldjord C - volume: Villard L - pages: Soufflet C.

compared to wild-type Kv7.2/Kv7.3. In neurons, .  et al. 0

the p.A294V mutation induced a mislocalization of heteromeric mutant channels to the somato-dendritic compartment

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Valérie, .  et al. 0

Emilie; Seve

a severe neurological disorder. MECP2 is a transcriptional modulator that finely regulates the expression of many genes
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, .  et al. 0

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Brain. 2010 Nov, .  et al. 0

Bahi-Buisson N

10.1093/brain/awq259
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Cacciagli P, .  et al. 0

Mortreux J

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, .  et al. 0

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, .  et al. 0

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this study, .  et al. 0

through secretomic analysis

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a missense and two splice-site mutations. In another cohort of 127 individuals with idiopathic epilepsy and/or mental retardation, .  et al. 0

we discovered a GRIN2A nonsense mutation in a three-generation family. In a girl with early-onset epileptic encephalopathy

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Nat Genet. 2010 Nov, .  et al. 0

Endele S

10.1038/ng.677
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Dalle C, .  et al. 0

Rastetter A

Nava C
Tran Mau-Them F - issue: Vanhoutte EK - volume: Verdonschot JAJ - pages: Villard L.

Fontes M, .  et al. 0

Villard L

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Pierre, .  et al. 0

Affef; Sutera-Sardo

Anne Dieux; Dailland
- issue: they are affected by early onset epilepsy but their subsequent neurological development is usually normal. Mutations causing BFNE are often inherited from affected parents. Early infantile epileptic encephalopathy type 7 (EIEE7) is at the other end of - volume: although EIEE7 patients have earl - pages: encoding a potassium channel subunit.

Yann, .  et al. 0

Lydia; Villard

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, .  et al. 0

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