Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by exces...
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
About this item
Full title
Author / Creator
Syeda, Safoora B , Lone, Museer A , Mohassel, Payam , Donkervoort, Sandra , Munot, Pinki , França, Marcondes C , Galarza-Brito, Juan Eli , Eckenweiler, Matthias , Asamoah, Alexander , Gable, Kenneth , Majumdar, Anirban , Schumann, Anke , Gupta, Sita D , Lakhotia, Arpita , Shieh, Perry B , Foley, A Reghan , Jackson, Kelly E , Chao, Katherine R , Winder, Thomas L , Catapano, Francesco , Feng, Lucy , Kirschner, Janbernd , Muntoni, Francesco , Dunn, Teresa M , Hornemann, Thorsten and Bönnemann, Carsten G
Publisher
England: BMJ Publishing Group Ltd
Journal title
Language
English
Formats
Publication information
Publisher
England: BMJ Publishing Group Ltd
Subjects
More information
Scope and Contents
Contents
BackgroundAmyotrophic lateral sclerosis (ALS) is a neurodegenerative disease of the upper and lower motor neurons with varying ages of onset, progression and pathomechanisms. Monogenic childhood-onset ALS, although rare, forms an important subgroup of ALS. We recently reported specific SPTLC1 variants resulting in sphingolipid overproduction as a c...
Alternative Titles
Full title
Recurrent de novo SPTLC2 variant causes childhood-onset amyotrophic lateral sclerosis (ALS) by excess sphingolipid synthesis
Authors, Artists and Contributors
Author / Creator
Lone, Museer A
Mohassel, Payam
Donkervoort, Sandra
Munot, Pinki
França, Marcondes C
Galarza-Brito, Juan Eli
Eckenweiler, Matthias
Asamoah, Alexander
Gable, Kenneth
Majumdar, Anirban
Schumann, Anke
Gupta, Sita D
Lakhotia, Arpita
Shieh, Perry B
Foley, A Reghan
Jackson, Kelly E
Chao, Katherine R
Winder, Thomas L
Catapano, Francesco
Feng, Lucy
Kirschner, Janbernd
Muntoni, Francesco
Dunn, Teresa M
Hornemann, Thorsten
Bönnemann, Carsten G
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10850718
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_10850718
Other Identifiers
ISSN
0022-3050,1468-330X
E-ISSN
1468-330X
DOI
10.1136/jnnp-2023-332132
