MMG PUBLICATIONS

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Results: 4196  publications found.

El-Waly B, .  et al. 0

Moncla A

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, .  et al. 0

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, .  et al. 0

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Laurent", .  et al. 0

KCNQ2 models have been developed to elucidate pathological mechanisms and to identify new therapeutic targets. The diversity of Kcnq2 mouse models has proven invaluable to access neuronal networks and evaluate the associated cognitive deficits. This review summarizes the available models and their contribution to our current understanding of KCNQ2 epileptic disorders.;2022-11;04/08/2025 08:04;0

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which would constitute a previously undescribed mutational mechanism.", .  et al. 0

Inc.;;;;;;Place: United States PMID: 17676597

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Am J Med Genet A. 2005 Nov 1, .  et al. 0

Chabrol B

10.1002/ajmg.a.30882
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Borloz E, .  et al. 0

Seve M

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Balzamo E, .  et al. 0

Legeai-Mallet L

Philip N.;"Hum Mutat. 2007 Dec;28(12):1183-8. doi: 10.1002/humu.20611.";Moncla A;Hum Mutat;2007;07/08/2007;;;10.1002/humu.20611
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Florence, .  et al. 0

Gisèle; Michon

Alexandra; Mignot
Fabienne; Lesca - issue: Damien; Trauffler - volume: Adeline; Badens - pages: Estelle; De La Vaissière.


Vera M., .  et al. 0

Marlène; Doco-Fenzy

Pierre; Moutton
- issue: Juliette; Man - volume: Heng-Ye";Loss of function of KIAA2022 causes mild to severe intellectual disability with an autism spectrum disorder and impairs neurite outgrowth.;Human molecular genetics;;1460-2083 0964-6906;10.1093/hmg/ddt187;;Existence of a discrete new X-linked int - pages: Céline; Villard.


, .  et al. 0

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John, .  et al. 0

Agneta";Impact of time trends and increasing age on health behaviour of Swedish school children.;European journal of cardiovascular prevention and rehabilitation : official journal of the European Society of Cardiology

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Zh Nevrol Psikhiatr Im S S Korsakova. 2005, .  et al. 0

Iurov IIu

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Renieri A, .  et al. 0

Villard L

Armstrong J
Vignoli A - issue: Pini G - volume: Bisgaard AM - pages: Craiu D.


Kpebe A, .  et al. 0

Labelle V

Anvret M
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was only 20% compared to wild-type. No measurable current was recorded in CHO cells expressing Kv7.2(A294V) channel alone. Although the total Kv7.2(A294V) expression was rescued to wild-type levels in cells co-expressing the Kv7.3 subunit, .  et al. 0

the global current density was still reduced by 83% compared to wild-type heteromeric channel. In a configuration mimicking the patients' heterozygous genotype i.e.

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indicated moderate-to-severe ID with autistic features, .  et al. 0

strabismus in all patients

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Roberta, .  et al. 0

Claude; Barcia

Caroline; Losito
- issue: analyzed EEG recordings and archived video-EEGs of seizures and detailed characteristics of interictal and ictal EEG patterns for every patient. R - volume: - pages: Nathalie; Nabbout.


environmental factors such as socio-economic and geographical living area favourably influenced food choices and physical activity. Parental attitudes and economy are therefore important for physi, .  et al. 0

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J Med Genet. 2004 Oct, .  et al. 0

Cantagrel V

10.1136/jmg.2004.021626
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