Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
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Sita D Gupta | Lucy Feng | P. Mohassel | M. Eckenweiler | M. Lone | T. Winder | Arpita Lakhotia | Francesco Catapano | Safoora B Syeda | M. C. França | Francesco Muntoni | Sandra Donkervoort | A. R. Foley | Carsten G. Bönnemann | Katherine R. Chao | Pinki Munot | Janbernd Kirschner | Juan Eli Galarza-Brito | Matthias Eckenweiler | Alexander Asamoah | Kenneth Gable | Anirban Majumdar | Anke Schumann | Perry B. Shieh | Kelly E Jackson | Teresa M Dunn | Thorsten Hornemann | Thomas L. Winder | M. França