MMG PUBLICATIONS

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Results: 4167  publications found.

Nathalie, .  et al. 0

Louis; Ville

Marie-Christine; Keren
Gaëtan; Doummar - issue: Clotilde; Whalen - volume: Sandra; Heron - pages: Laurent; Richelme.


the majority of CDKL5-mutated patients with the early-onset seizure variant, .  et al. 0

and the majority of FOXG1-mutated patients with the congenital form. A computation of severity scores further revealed significant differences between groups of patients and correlation with mutation types. The highly detailed phenotypic information contained in the

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Font, .  et al. 0

Colleaux L. "Gene. 1999 Jul 22;235(1-2):43-50. doi: 10.1016/s0378-1119(99)00217-6." Villard L Gene 1999 23/07/1999 10.1016/s0378-1119(99)00217-6

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G., .  et al. 0

L.; Stayton

SCID
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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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Giovanucci-Uzielli ML, .  et al. 0

Demidova IA

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as well as the expression in human tissues, .  et al. 0

suggests that this gene might be involved in neuronal differentiation. Among the different morbid phenotypes assigned to the region

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, .  et al. 0

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and seizure types. We made genotypic/phenotypic correlation based on epilepsy-associated missense variant localization over the protein. RESULTS: We found 19 patients carrying a de novo mutation of SCN8A, .  et al. 0

representing 3% of our cohort

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Villard L, .  et al. 0

Demidova IA

Iurov IuV. "Zh Nevrol Psikhiatr Im S S Korsakova. 2005;105(7):4-11." Iurov IIu Zh Nevrol Psikhiatr...
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A. M., .  et al. 0

P.; Djabali

mapped and characterized. Moreover one more transcript
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Christelle, .  et al. 0

Catherine; Chantot-Bastaraud

Diane; Faivre
Stéphanie; Roubertie - issue: Mathieu; Moutard - volume: Marie-Laure; Riant - pages: Isabelle; Lacombe.


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Percy M, .  et al. 0

Allingham-Hawkins D

Hagerman R
- issue: Tranebjaerg L - volume: Villard L - pages: Neri G.


MRX, .  et al. 0

XDP

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CACNA1A and CACNA2D2).", .  et al. 0

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Ulrike B. S., .  et al. 0

Silvia; Rubboli

Laurent; Afenjar
Stéphane; Miranda - issue: Marion; Perrin - volume: Laurence; Doummar - pages: Caroline; Schwarz.