SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis
SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis
About this item
Full title
Author / Creator
Naruse, Hiroya , Ishiura, Hiroyuki , Esaki, Kayoko , Mitsui, Jun , Satake, Wataru , Greimel, Peter , Shingai, Nanoka , Machino, Yuka , Kokubo, Yasumasa , Hamaguchi, Hirotoshi , Oda, Tetsuya , Ikkaku, Tomoko , Yokota, Ichiro , Takahashi, Yuji , Suzuki, Yuta , Matsukawa, Takashi , Goto, Jun , Koh, Kishin , Takiyama, Yoshihisa , Morishita, Shinichi , Yoshikawa, Takeo , Tsuji, Shoji and Toda, Tatsushi
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Objective
Amyotrophic lateral sclerosis (ALS) is a devastating, incurable neurodegenerative disease. A subset of ALS patients manifests with early‐onset and complex clinical phenotypes. We aimed to elucidate the genetic basis of these cases to enhance our understanding of disease etiology and facilitate the development of targeted therapies.
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Alternative Titles
Full title
SPTLC2 variants are associated with early‐onset ALS and FTD due to aberrant sphingolipid synthesis
Authors, Artists and Contributors
Author / Creator
Ishiura, Hiroyuki
Esaki, Kayoko
Mitsui, Jun
Satake, Wataru
Greimel, Peter
Shingai, Nanoka
Machino, Yuka
Kokubo, Yasumasa
Hamaguchi, Hirotoshi
Oda, Tetsuya
Ikkaku, Tomoko
Yokota, Ichiro
Takahashi, Yuji
Suzuki, Yuta
Matsukawa, Takashi
Goto, Jun
Koh, Kishin
Takiyama, Yoshihisa
Morishita, Shinichi
Yoshikawa, Takeo
Tsuji, Shoji
Toda, Tatsushi
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_a933b528a8fe470791e3994a6a0b880c
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_a933b528a8fe470791e3994a6a0b880c
Other Identifiers
ISSN
2328-9503
E-ISSN
2328-9503
DOI
10.1002/acn3.52013
