MMG PUBLICATIONS

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Results: 4199  publications found.

Alcaraz G, .  et al. 0

Michon FX

Mignot C
Lesca G - issue: Trauffler A - volume: Badens C - pages: De La Vaissière S.


Julitta, .  et al. 0

Nathalie; Cacciagli

which could evolve to long-lasting attacks without loss of consciousness
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regulation of the complement way, .  et al. 0

and co-receptor in transduction signal. Children suffering from this condition exhibit developmental delay with early-onset epilepsy

but abnormalities in electroencephalographic studies were eventually present in all cases. Different type
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pharmacological interventions can be envisaged to try to counteract the deficits observed. Here, .  et al. 0

we review the available human and mouse data and present how they have been and could be used in the development of pharmacological treatments for children affected by the syndrome. Given our current knowledge and the tools available

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J Med Genet. 2010 Jan, .  et al. 0

Mencarelli MA

10.1136/jmg.2009.067884
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Huh L, .  et al. 0

Lesca G

Haginoya K
Pietrafusa N - issue: Mathieu ML - volume: Minassian BA - pages: Lagae L.


André-Obadia N, .  et al. 0

Cacciagli P

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affected with infantile-onset myoclonic epilepsy. The peculiar epileptic presentation prompted us to perform direct sequencing of the TBC1D24 gene. The patients had very early onset of focal myoclonic fits with variable topography, .  et al. 0

lasting a few minutes to several hours

suggest that mutations in TBCD24 cause a pathological continuum
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, .  et al. 0

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which is mutated or deleted in Rubinstein-Taybi syndrome. In 10 out of the 12 hitherto described probands, .  et al. 0

the duplication arose de novo. CONCLUSIONS: Interstitial 16p13.3 duplications have a recognizable phenotype

genitalia
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Gene Expr Patterns. 2009 Sep, .  et al. 0

Cantagrel V

10.1016/j.gep.2009.06.001
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, .  et al. 0

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Ewbank JJ., .  et al. 0

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, .  et al. 0

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Elizabeth, .  et al. 0

Linda; Lesca

Ilaria; Haginoya
Antonio; Pietrafusa - issue: Mathieu; Mathieu - volume: Marie L.; Minassian - pages: Julien; Lagae.


, .  et al. 0

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Eur J Med Genet. 2009 Jul-Aug, .  et al. 0

Haddad MR

10.1016/j.ejmg.2009.04.002
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Dauba A, .  et al. 0

Larrat B

Roux JC. "Pharmaceutics. 2021 Aug 12;13(8):1245. doi: 10.3390/pharmaceutics13081245." Felix MS...
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Villard L, .  et al. 0

Cozzone PJ

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Marie-Reine, .  et al. 0

Laurent";Nhej1 Deficiency Causes Abnormal Development of the Cerebral Cortex.;Molecular neurobiology;;1559-1182 0893-7648;10.1007/s12035-014-8919-y;;DNA double-strand breaks (DSBs) frequently occur in rapidly dividing cells such as proliferating progenitors during central nervous system development. If they cannot be repaired

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