MMG PUBLICATIONS

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Results: 4167  publications found.

Eur J Paediatr Neurol. 2021 Jul, .  et al. 0

Le Roux M

10.1016/j.ejpn.2021.05.010
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Héron D, .  et al. 0

Koeleman B

Depienne C.;"Genet Med. 2019 Apr;21(4):837-849. doi: 10.1038/s41436-018-0268-1. Epub 2018 Sep 12.";Mignot C;Genet Med;2019;13/09/2018;PMC6752297;;10.1038/s41436-018-0268-1
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C., .  et al. 0

C.; Lépine

it is difficult to find a common mechanism to explain EOEE. In this short review
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R., .  et al. 0

D.; De Filippis

A.; Chabrol
A.";Novel FOXG1 mutations associated with the congenital variant of Rett syndrome.;Journal of medical genetics;;1468-6244 0022-2593;10.1136/jmg.2009.067884;;BACKGROUND: Rett syndrome is a severe neurodevelopmental disorder representing one of the most co - issue: E.; Mari - volume: F.; Ariani - pages: A.; Pineda.

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Int J Mol Sci. 2021 Apr 21, .  et al. 0

Ehinger Y

10.3390/ijms22094316
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Sarno S, .  et al. 0

Granjeaud S

Aniksztejn L.;"J Physiol. 2022 May;600(10):2429-2460. doi: 10.1113/JP282536. Epub 2022 Apr 27.";Biba-Maazou N;J Physiol;2022;07/04/2022;;;10.1113/JP282536
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Nicolas, .  et al. 0

Yah-Se; Borloz

Lydia; Villard
- issue: and is under-expressed in Mecp2 knockout brains. Here - volume: we demonstrate that - pages: but non-specific overexpression of BDNF only partially improves the phenotype of Mecp2-deficient mice. We and others have previously shown that huntingtin (HTT) scaffolds molecular motor complexes.

Spain and Latvia. Clinical data have been compared with the two previously reported patients with mutations in FOXG1. In all cases hypotonia, .  et al. 0

irresponsiveness and irritability were present in the neonatal period. At birth

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Pierre, .  et al. 0

Nadine; Milh

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J Med Genet. 2022 May, .  et al. 0

Aubert Mucca M

10.1136/jmedgenet-2020-107511
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Cacciagli P, .  et al. 0

Lamoureux-Toth S

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increases striatal BDNF availability and synaptic connectivity in vivo, .  et al. 0

and improves the phenotype and the survival of Mecp2 knockout mice-even though treatments were initiated only after the mice had already developed symptoms. Stimulation of endogenous cellular pathways may thus be a promising approach for the treatment of RTT patients.;07/02/2020;23/06/2020 08:42;23/06/2020 08:42;;e10889;;2;12;;EMBO Mol Med;;;;;;;;eng;;;;;PubMed;;PMID: 31913581 PMCID: PMC7005633

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, .  et al. 0

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and can present with early-onset epileptic encephalopathy without brain iron accumulation., .  et al. 0

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Clin Neurophysiol. 2021 Apr, .  et al. 0

Lo Barco T

10.1016/j.clinph.2021.01.014
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Abidi A, .  et al. 0

Sutera-Sardo J

Dailland T
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most biological parameters, .  et al. 0

including brain structure

for several reasons. Firstly
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Ana, .  et al. 0

Adeline; Villard

revealed morphological and functional alterations of neurons. Several functions that are regulated by bioaminergic nuclei or peripheral ganglia are impaired in the absence of Mecp2. RESULTS: Using...
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a depressed nasal bridge, .  et al. 0

hypertelorism

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