MMG PUBLICATIONS

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Results: 4196  publications found.

Daniel J, .  et al. 0

Riccardi F

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, .  et al. 0

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Kirsten, .  et al. 0

Bernt; Tamer

Friederike K.; Hellenbroich
Nathalie; Villard - issue: Hans-Hilger; von Spiczak - volume: Sarah; Tönnies - pages: Gudrun; Rauch.


compared to wild-type Kv7.2/Kv7.3. In neurons, .  et al. 0

the p.A294V mutation induced a mislocalization of heteromeric mutant channels to the somato-dendritic compartment

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, .  et al. 0

Dysferlin and myoferlin regulate transverse tubule formation and glycerol sensitivity. - PubMed - NCBI

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PLoS Biol. 2020 Nov 13, .  et al. 0

Verneuil J

10.1371/journal.pbio.3000738
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Villard L., .  et al. 0

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C., .  et al. 0

B.; Carles

L.; Pelluard
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we discovered a GRIN2A nonsense mutation in a three-generation family. In a girl with early-onset epileptic encephalopathy, .  et al. 0

we identified the de novo GRIN2A mutation c.1845C>A predicting the amino acid substitution p.N615K. Analysis of NR1-NR2A(N615K) (NR2A subunit with the p.N615K alteration) receptor currents revealed a loss of the Mg²(+) block and a decrease in Ca²(+) permeability. Our findings suggest that disturbances in the neuronal electrophysiological balance during development result in variable neurological phenotypes depending on which NR2 subunit of NMDA receptors

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, .  et al. 0

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Eur J Paediatr Neurol. 2020 Sep, .  et al. 0

Cabasson S

10.1016/j.ejpn.2020.06.002
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Borloz E, .  et al. 0

Seve M

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Dicky J. J., .  et al. 0

Tim; Villard

coded by ARFGEF2 indirectly assists neuronal proliferation and migration during cortical development. Mutations in ARFGEF2 have been reported as a rare cause of periventricular heterotopia. METHODS:...
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, .  et al. 0

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and found that these individuals were mosaic for the KCNQ2 mutation. These findings have important consequences for genetic counseling and indicate that neurological development can be normal in the presence of somatic mosaicism for a KCNQ2 mutation., .  et al. 0

Inc.;;;;;;Place: United States PMID: 25959266

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Epilepsia. 2020 Jul, .  et al. 0

Trivisano M

10.1111/epi.16582
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Renieri A, .  et al. 0

Villard L

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


recurrent infections and feeding difficulties. Degenerative features included early regression, .  et al. 0

acquired microcephaly and cerebral atrophy. Brain MRI revealed bilateral periventricular heterotopia

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Jeroen, .  et al. 0

Nicole; Menten

Jennifer L.; Grange
Laurent; Bottani - issue: Jean-Pierre; Mortier - volume: Geert; Friedman - pages: Michael M.; Gimelli.


10q25.2, .  et al. 0

and 8p23.1) in 3 patients born to consanguineous parents

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