Search Results - "Moustaïne, A."

Rett‐like phenotypes: expanding the genetic heterogeneity to the KCNA2 gene and first familial case of CDKL5‐related disease by Allou, L., Julia, S., Amsallem, D., El Chehadeh, S., Lambert, L., Thevenon, J., Duffourd, Y., Saunier, A., Bouquet, P., Pere, S., Moustaïne, A., Ruaud, L., Roth, V., Jonveaux, P., Philippe, C.

“…Several genes have been implicated in Rett syndrome (RTT) in its typical and variant forms. We applied next‐generation sequencing (NGS) to evaluate for…”
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MEF2C mutations are a rare cause of Rett or severe Rett-like encephalopathies by Lambert, L, Bienvenu, T, Allou, L, Valduga, M, Echenne, B, Diebold, B, Mignot, C, Héron, D, Roth, V, Saunier, A, Moustaïne, A, Jonveaux, P, Philippe, C

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Management of Ptosis in Kearns-Sayre Syndrome: A Case Report and Literature Review by Moulay O. Moustaine, Zakaria Azemour, Frarchi Mohammed, Othman Benlanda, Hicham Nassik, Mehdi Karkouri

“…Kearns-Sayre syndrome (KSS) is a rare mitochondrial disease that affects young adults, due to a deletion of mitochondrial DNA and characterized by the triad:…”
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