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Recurrent De-Novo Gain-of-function Mutation in SPTLC2 Confirms Dysregulated Sphingolipid Production to Cause Juvenile Amyotrophic Lateral Sclerosis.

Maike F. Dohrn,Danique Beijer,Museer A. Lone,Elif Bayraktar,Piraye Oflazer,Rotem Orbach,Sandra Donkervoort,A. Reghan Foley, Aubrey Rose,Michael Lyons,Raymond J. Louie,Kenneth Gable,Teresa Dunn,Sitong Chen,Matt C. Danzi,Matthis Synofzik,Carsten G. Boennemann,A. Nazli Basak,Thorsten Hornemann,Stephan Zuchner

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY（2024）

Cited 1|Views79

Key words

MOTOR NEURON DISEASE,NEUROGENETICS,ALS,BIOCHEMISTRY,NEUROMUSCULAR

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