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Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

Quiroz, Vicente ; Planas-Serra, Laura ; Sveden, Abigail ; Tam, Amy ; Kim, Hyo Min ; Zubair, Umar ; Resch, Dario ; Saffari, Afshin ; Danzi, Matt C. and Züchner, Stephan , et al. (2024) In Journal of Clinical Investigation 134(17).
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organization
publishing date
type
Contribution to journal
publication status
published
subject
in
Journal of Clinical Investigation
volume
134
issue
17
article number
e178919
publisher
American Society for Clinical Investigation
external identifiers
  • pmid:38990652
  • scopus:85203203595
ISSN
0021-9738
DOI
10.1172/JCI178919
language
English
LU publication?
yes
id
d83f78a5-ab5d-413d-9976-8f1dbaac2abc
date added to LUP
2024-11-19 11:26:31
date last changed
2025-07-02 06:36:07
@article{d83f78a5-ab5d-413d-9976-8f1dbaac2abc,
  author       = {{Quiroz, Vicente and Planas-Serra, Laura and Sveden, Abigail and Tam, Amy and Kim, Hyo Min and Zubair, Umar and Resch, Dario and Saffari, Afshin and Danzi, Matt C. and Züchner, Stephan and Chopra, Maya and Schierbaum, Luca and Pujol, Aurora and Eklund, Erik A. and Ebrahimi-Fakhari, Darius}},
  issn         = {{0021-9738}},
  language     = {{eng}},
  number       = {{17}},
  publisher    = {{American Society for Clinical Investigation}},
  series       = {{Journal of Clinical Investigation}},
  title        = {{Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia}},
  url          = {{http://dx.doi.org/10.1172/JCI178919}},
  doi          = {{10.1172/JCI178919}},
  volume       = {{134}},
  year         = {{2024}},
}