PUBLICATIONS of MMG

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Résultats : 4197  publications trouvées.

Sanger sequencing, .  et al. 0

epilepsy gene panel

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our patients confirm that ATP1A3 mutations are associated with a phenotype combining features of early-onset encephalopathy, .  et al. 0

epilepsy and dystonic fits

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, .  et al. 0

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and a high likelihood of premature death. The most severe clinical presentation seems to be associated with null genotypes. CONCLUSION: Germline pathogenic variants in WWOX are clearly associated with a severe early-onset epileptic encephalopathy. We report here the largest cohort of individuals with WOREE syndrome., .  et al. 0

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Lydia, .  et al. 0

Ana; Barkats

we investigated the efficacy of a self-complementary AAV9 vector expressing a codon-optimized version
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Daniel G., .  et al. 0

John; Clarke

Michele; Renieri
- issue: - volume: - pages: the accumulation of clinical and molecular information in recent years has generated considerable confusion regarding the diagnosis of RTT. The purpose of this work was to revise and clarify 2002 consensus criteria for the diagnosis of RTT in anticipatio.

were significantly decreased to WT levels in Mecp2 KO mice after AAV9-MCO administration. Semi-quantitative analysis showed that AAV9-MCO administration in Mecp2 KO mice resulted in 10 to 20% Mecp2 immunopositive cells compared to WT animals, .  et al. 0

with the highest Mecp2 expression found in midbrain regions known to regulate cardio-respiratory functions. In addition

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Li, .  et al. 0

Anna-Karin; Bartonek

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Roux JC., .  et al. 0

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Cancés C, .  et al. 0

Barcia G

Losito E
- issue: - volume: - pages: Nabbout R.;"Clin Neurophysiol. 2021 Apr;132(4):841-850. doi: 10.1016/j.clinph.2021.01.014. Epub 2021 Feb 3.";Lo Barco T;Clin Neurophysiol;2021;27/02/2021;;;10.1016/j.clinph.2021.01.014.

Claire, .  et al. 0

Philippe M.; Davidson

Mathieu; Edery
Christine; Cristancho - issue: Ange-Line; Brunga - volume: Ledia; Ceulemans - pages: Claude; Bienvenu.

David, .  et al. 0

Christophe; Villard

Martin";Coverage Analysis of Lists of Genes involved in Heterogeneous Genetic Diseases following Benchtop Exome Sequencing using the Ion Proton.;Journal of genetics;;0973-7731...
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, .  et al. 0

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Badens C, .  et al. 0

Lépine A

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