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Recurrent de novo SPTLC2 variant causes childhood-onset amy..:
Syeda, Safoora B
;
Lone, Museer A
;
Mohassel, Payam
...
https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-2023-332132.full.pdf. , 2023
Link:
https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-..
RT Journal T1
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
UL https://suche.suub.uni-bremen.de/peid=base-ftucl:oai:eprints.ucl.ac.uk.OAI2:10183851&Exemplar=1&LAN=DE A1 Syeda, Safoora B A1 Lone, Museer A A1 Mohassel, Payam A1 Donkervoort, Sandra A1 Munot, Pinki A1 França, Marcondes C A1 Galarza-Brito, Juan Eli A1 Eckenweiler, Matthias A1 Asamoah, Alexander A1 Gable, Kenneth A1 Majumdar, Anirban A1 Schumann, Anke A1 Gupta, Sita D A1 Lakhotia, Arpita A1 Shieh, Perry B A1 Foley, A Reghan A1 Jackson, Kelly E A1 Chao, Katherine R A1 Winder, Thomas L A1 Catapano, Francesco A1 Feng, Lucy A1 Kirschner, Janbernd A1 Muntoni, Francesco A1 Dunn, Teresa M A1 Hornemann, Thorsten A1 Bönnemann, Carsten G PB BMJ YR 2023 JF https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-2023-332132.full.pdf LK http://dx.doi.org/https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-2023-332132.full.pdf DO https://discovery.ucl.ac.uk/id/eprint/10183851/1/jnnp-2023-332132.full.pdf SF ELIB - SuUB Bremen
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