New Insights into the Neuromyogenic Spectrum of a Gain of Function Mutation in SPTLC1

Authors :: Heike Kölbel
Florian Kraft
Andreas Hentschel
Artur Czech
Andrea Gangfuss
Payam Mohassel
Chi Nguyen
Werner Stenzel
Ulrike Schara-Schmidt
Corinna Preuße
Andreas Roos
Source :: Genes; Volume 13; Issue 5; Pages: 893, Genes 13(5), 893 (2022). doi:10.3390/genes13050893 special issue: "Special Issue "Genetics of Motor Neuron Diseases" / Special Issue Editor: Christopher Grunseich, Guest Editor"
Publication Year :: 2022
Publisher :: Multidisciplinary Digital Publishing Institute, 2022.
Abstract: Genes 13(5), 893 (2022). doi:10.3390/genes13050893 special issue: "Special Issue "Genetics of Motor Neuron Diseases" / Special Issue Editor: Christopher Grunseich, Guest Editor"<br />Published by MDPI, Basel

Subjects :: Proteomics
Medizinische Fakultät » Universitätsklinikum Essen » Zentrum für Kinder- und Jugendmedizin » Klinik für Kinderheilkunde I/Perinatalzentrum
Gain of Function Mutation
SPTLC1
juvenile ALS
HSAN1A
proteomic profiling
serine palmitoyltransferase
Amyotrophic Lateral Sclerosis
Mutation
Serine C-Palmitoyltransferase
Medizin
Genetics
SPTLC1 -- juvenile ALS -- HSAN1A -- proteomic profiling -- serine palmitoyltransferase
Humans
ddc:610
Genetics (clinical)

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