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Severe DNM1 encephalopathy with dysmyelination due to recurrent splice site pathogenic variant.
Hum Genet. 2020 Dec;139(12):1575-1578. doi: 10.1007/s00439-020-02224-5. Epub 2020 Sep 9.
Hum Genet. 2020.
PMID: 32909139
No abstract available.
Teaching NeuroImages: CLOVES Syndrome.
Collins M, Krochmalnek E, Alsubhi S, Srour M.
Collins M, et al. Among authors: krochmalnek e.
Neurology. 2021 Mar 9;96(10):e1487-e1488. doi: 10.1212/WNL.0000000000010856. Epub 2020 Dec 1.
Neurology. 2021.
PMID: 33262231
Free PMC article.
No abstract available.
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mTOR Pathway Somatic Pathogenic Variants in Focal Malformations of Cortical Development: Novel Variants, Topographic Mapping, and Clinical Outcomes.
Krochmalnek E, Accogli A, St-Onge J, Addour-Boudrahem N, Prakash G, Kim SH, Brunette-Clement T, Alhajaj G, Mougharbel L, Bruneau E, Myers KA, Dubeau F, Karamchandani J, Farmer JP, Atkinson J, Hall J, Chantal Poulin C, Rosenblatt B, Lafond-Lapalme J, Weil A, Fallet-Bianco C, Albrecht S, Sonenberg N, Riviere JB, Dudley RW, Srour M.
Krochmalnek E, et al.
Neurol Genet. 2023 Oct 26;9(6):e200103. doi: 10.1212/NXG.0000000000200103. eCollection 2023 Dec.
Neurol Genet. 2023.
PMID: 37900581
Free PMC article.
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