Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

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Bibliographic Details
Published in	Journal of neurology, neurosurgery and psychiatry Vol. 95; no. 3; pp. 288 - 290
Main Authors	Guissart, Claire, De la Cruz, Elisa, Flabeau, Olivier, Grapperon, Aude-Marie, Corazza, Giovanni, Junilhon, Lucie, Delmas, Jean-Charles, Millecamps, Stéphanie, Polge, Anne, Amador, Maria del Mar, Salachas, Francois, Rochat, Julie, Goizet, Cyril, Juntas Morales, Raul, Lumbroso, Serge, Philibert, Pascal, Cheillan, David, Mouzat, Kevin
Format	Journal Article
Language	English
Published	England BMJ Publishing Group Ltd 01.03.2024 BMJ Publishing Group LTD BMJ Publishing Group
Subjects	ALS Amyotrophic lateral sclerosis Amyotrophic Lateral Sclerosis - genetics Atrophy Consent Ethics GENETICS Humans Life Sciences Lipids Mass spectrometry Mutation Ostomy Patients PostScript Proteins Scientific imaging Serine C-Palmitoyltransferase - genetics Spasticity Ventilation ALS GENETICS Als Genetics
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ISSN	0022-3050 1468-330X 1468-330X
DOI	10.1136/jnnp-2023-331753

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Bibliography:	Letter SourceType-Scholarly Journals-1 ObjectType-Correspondence-2 content type line 14 ObjectType-Letter to the Editor-1 content type line 23 ObjectType-Correspondence-1
ISSN:	0022-3050 1468-330X 1468-330X
DOI:	10.1136/jnnp-2023-331753