Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS.
Claire GuissartElisa De la CruzOlivier FlabeauAude-Marie GrapperonGiovanni CorazzaLucie JunilhonJean-Charles DelmasStéphanie MillecampsAnne PolgeMaria Del Mar AmadorFrancois SalachasJulie RochatCyril GoizetRaul Juntas MoralesSerge LumbrosoPascal PhilibertDavid CheillanKevin MouzatPublished in: Journal of neurology, neurosurgery, and psychiatry (2023)
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