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WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.
Published in:
Epilepsia (Series 4), 2023, v. 64, n. 5, p. 1351, doi. 10.1111/epi.17542
By:
- Oliver, Karen L.;
- Trivisano, Marina;
- Mandelstam, Simone A.;
- De Dominicis, Angela;
- Francis, David I.;
- Green, Timothy E.;
- Muir, Alison M.;
- Chowdhary, Apoorva;
- Hertzberg, Christoph;
- Goldhahn, Klaus;
- Metreau, Julia;
- Prager, Christine;
- Pinner, Jason;
- Cardamone, Michael;
- Myers, Kenneth A.;
- Leventer, Richard J.;
- Lesca, Gaetan;
- Bahlo, Melanie;
- Hildebrand, Michael S.;
- Mefford, Heather C.
Publication type:
Article
Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review.
Published in:
Frontiers in Neuroscience, 2023, p. 1, doi. 10.3389/fnins.2023.1215684
By:
- Trivisano, Marina;
- Butera, Ambra;
- Quintavalle, Chiara;
- De Dominicis, Angela;
- Calabrese, Costanza;
- Cappelletti, Simona;
- Vigevano, Federico;
- Novelli, Antonio;
- Specchio, Nicola
Publication type:
Article
Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome.
Published in:
Acta Myologica, 2020, v. 39, n. 4, p. 320, doi. 10.36185/2532-1900-036
By:
- Rosaria D'Apice, Maria;
- De Dominicis, Angela;
- Murdocca, Michela;
- Amati, Francesca;
- Botta, Annalisa;
- Sangiuolo, Federica;
- Lattanzi, Giovanna;
- Federici, Massimo;
- Novelli, Giuseppe
Publication type:
Article

Found: 3

WWOX developmental and epileptic encephalopathy: Understanding the epileptology and the mortality risk.

Insights into cognitive and behavioral comorbidities of SLC6A1-related epilepsy: five new cases and literature review.

Cutaneous and metabolic defects associated with nuclear abnormalities in a transgenic mouse model expressing R527H lamin A mutation causing mandibuloacral dysplasia type A (MADA) syndrome.