MMG PUBLICATIONS

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Results: 4167  publications found.

Alma, .  et al. 0

Laurent; Goizet

Ange-Line; Tran Mau-Them
Elise; Abi-Warde - issue: Roseline; Smol - volume: Thomas; El Chehadeh - pages: James; Ghoumid.

P35 and P55). We focused on regions of the pons and the medulla oblongata directly involved in the regulation of autonomic functions. Our results show that the expression of MeCP2 is heterogeneously expressed throughout the postnatal mouse brainstem. MeCP2 expression in each area studied is restricted to neurones. The developmental pattern is mainly characterized by a postnatal decrease of the Mecp2 mRNA and an increase of the MeCP2 protein staining level in spite of the local variability. However, .  et al. 0

we were not able to correlate the developmental expression of MeCP2 in a given area of the brainstem with autonomic dysfunctions occurring in the presence of a mutation in Mecp2.;21/10/2008;04/08/2025 08:04;04/08/2025 08:04;;176-184;;;1236;;Brain Res;;;;;;;;eng;;;;;;;Place: Netherlands PMID: 18761004

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Pediatr Neurol. 2006 May, .  et al. 0

Bienvenu T

10.1016/j.pediatrneurol.2005.10.013
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Abidi A, .  et al. 0

Sutera-Sardo J

Dailland T
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Abidi A, .  et al. 0

Cacciagli P

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Pierre, .  et al. 0

Nadine; Milh

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to a lesser extent, .  et al. 0

in the glutamate pathway. The implication of the GABA pathway in the RTT neuropathology was further confirmed using an in vivo treatment with a GABA reuptake inhibitor that significantly improved the lifespan of Mecp2-deficient mice. Our results confirm that RTT mouse present a deficit in the GABAergic pathway and suggest that GABAergic modulators could

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epilepsy in 82%, .  et al. 0

intellectual disability in 77%

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c.1265G>A (p.R422H), .  et al. 0

c.1264C>T (p.R422C)

it emerges that the TUBA1A related lissencephaly spectrum ranges from perisylvian pachygyria
- issue: mental retardation and diplegia/tetraplegia. CONCLUSIONS: Our data highlight - volume: - pages: these features appear to be specific to TUBA1A related lissencephaly. In addition.

Eur J Med Genet. 2006 Jan-Feb, .  et al. 0

Philippe C

10.1016/j.ejmg.2005.04.003
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Roux JC, .  et al. 0

Franco P

Cornu C
- issue: Blin O - volume: Micallef J. "Ann Clin Transl Neurol. 2017 Dec 27;5(2):118-127. doi: 10.1002/acn3.468. eCollection 2018 Feb." Mancini J Ann Cli - pages: Attolini L.

Buhler E, .  et al. 0

Ben Zeev B

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and can present with early-onset epileptic encephalopathy without brain iron accumulation.European Journal of Human Genetics advance online publication, .  et al. 0

15 July 2015; doi:10.1038/ejhg.2015.159.";15/07/2015;07/03/2016 15:11;23/06/2020 08:43;;;;;;;Eur. J. Hum. Genet.;;;;;;;;ENG;;;;;PubMed;;PMID: 26173968

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, .  et al. 0

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including rubbing with a towel, .  et al. 0

fever

lighting
- issue: - volume: - pages: splicing and start-loss variants) as well as non-truncating variants (missense substitutions and in-frame duplications). Genotype-phenotype correlation revealed that epileptic phenotypes are enriched in individuals with truncating variants. Furthermor.

, .  et al. 0

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Med Sci (Paris). 2006 Jan, .  et al. 0

Villard L

10.1051/medsci/200622181
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Raynaud M, .  et al. 0

Bonnefond JP

Feingold J
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Girard N, .  et al. 0

Delepine M

Villard L.;"Eur J Hum Genet. 2014 Mar;22(3):363-8. doi: 10.1038/ejhg.2013.135. Epub 2013 Jun 12.";Cacciagli P;Eur J Hum Genet;2014;13/06/2013;PMC3925263;;10.1038/ejhg.2013.135
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Pierre, .  et al. 0

Joelle; Fawaz

and intellectual disability;Molecular Cytogenetics;;1755-8166;10.1186/s13039-015-0149-0;;BACKGROUND: The premature fusion of metopic sutures results in the clinical phenotype of trigonocephaly. An...
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