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Expanding SPTAN1 monoallelic variant associated disorders: ..:
Morsy, Heba
;
Benkirane, Mehdi
;
Cali, Elisa
...
info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.013. , 2022
Link:
https://hal.science/hal-03840317
RT Journal T1
Expanding SPTAN1 monoallelic variant associated disorders: From epileptic encephalopathy to pure spastic paraplegia and ataxia
UL https://suche.suub.uni-bremen.de/peid=base-ftccsdartic:oai:HAL:hal-03840317v1&Exemplar=1&LAN=DE A1 Morsy, Heba A1 Benkirane, Mehdi A1 Cali, Elisa A1 Rocca, Clarissa A1 Zhelcheska, Kristina A1 Cipriani, Valentina A1 Galanaki, Evangelia A1 Maroofian, Reza A1 Efthymiou, Stephanie A1 Murphy, David A1 O'Driscoll, Mary A1 Suri, Mohnish A1 Banka, Siddharth Manish A1 Clayton-Smith, Jill A1 Wright, Thomas A1 Redman, Melody A1 Bassetti, Jennifer A1 Nizon, Mathilde A1 Cogné, Benjamin A1 Jamra, Rami Abu A1 Bartolomaeus, Tobias A1 Heruth, Marion A1 Krey, Ilona A1 Gburek-Augustat, Janina A1 Wieczorek, Dagmar A1 Gattermann, Felix A1 Mcentagart, Meriel A1 Goldenberg, Alice A1 Guyant-Maréchal, Lucie A1 Garcia-Moreno, Hector A1 Giunti, Paola A1 Chabrol, Brigitte A1 Bacrot, Severine A1 Buissonnière, Roger A1 Magry, Virginie A1 Gowda, Vykuntaraju A1 M., Varunvenkat, Srinivasan A1 Melegh, Béla A1 Szabó, András A1 Sümegi, Katalin A1 Cossée, Mireille A1 Ziff, Monica A1 Butterfield, Russell A1 Hunt, David A1 Bird-Lieberman, Georgina A1 Hanna, Michael A1 Koenig, Michel A1 Stankewich, Michael A1 Vandrovcova, Jana A1 Houlden, Henry PB HAL CCSD; Nature Publishing Group YR 2022 K1 Developmental delay K1 Developmental epileptic encephalopathy K1 Hereditary ataxia K1 Hereditary spastic paraplegia K1 SPTAN1 K1 [SDV]Life Sciences [q-bio] JF info:eu-repo/semantics/altIdentifier/doi/10.1016/j.gim.2022.09.013 LK http://dx.doi.org/https://hal.science/hal-03840317 DO https://hal.science/hal-03840317 SF ELIB - SuUB Bremen
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