MMG PUBLICATIONS

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Results: 4196  publications found.

and normal head growth. In addition, .  et al. 0

we constantly found an ongoing moderate to severe developmental delay with normal head growth. Patients often had ongoing ataxic gait with trembling gestures. Altogether these features should help the clinician to consider STXBP1 molecular screening.;2015-12;04/08/2025 08:04;04/08/2025 08:04;;1931-1940;;12;56;;Epilepsia;;;;;;;;eng;Wiley Periodicals

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de Bellescize J, .  et al. 0

Chatron N

Lèbre AS
Schaefer E - issue: Nava C - volume: Panagiotakaki E - pages: Milh M.


CACNA1A and CACNA2D2).", .  et al. 0

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Campeau PM, .  et al. 0

Davidson C

Edery P
Cristancho AG - issue: Brunga L - volume: Ceulemans B - pages: Bienvenu T.


Laurent, .  et al. 0

Jean-Christophe";Rett syndrome from bench to bedside: recent advances;F1000Research;;2046-1402;10.12688/f1000research.14056.1;;Rett Syndrome is a severe neurological disorder mainly due to de novo mutations in the methyl-CpG-binding protein 2 gene ( MECP2). Mecp2 is known to play a role in chromatin organization and transcriptional regulation. In this review

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but only a tendency towards reduction. Finally, .  et al. 0

we did not found any apoptotic neurons in the pons indicating that LC neurons are not dying but are more likely loosing their catecholaminergic phenotype. In conclusion

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MECP2, .  et al. 0

and ARID1B were the most common causes of ID. This study assessed the value of sequencing a cohort of probands to provide a molecular diagnosis of ID

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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.


, .  et al. 0

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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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