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

Vicente Quiroz; Laura Planas-Serra; Abigail Sveden; Amy Tam; Hyo Min Kim; Umar Zubair; Dario Resch; Afshin Saffari; Matt C. Danzi; Stephan Züchner; Maya Chopra; Luca Schierbaum; Aurora Pujol; Erik A. Eklund; Darius Ebrahimi-Fakhari

doi:10.1172/JCI178919

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

Vicente Quiroz, Laura Planas-Serra, Abigail Sveden, Amy Tam, Hyo Min Kim, Umar Zubair, Dario Resch, Afshin Saffari, Matt C. Danzi, Stephan Züchner, Maya Chopra, Luca Schierbaum, Aurora Pujol, Erik A. Eklund, Darius Ebrahimi-Fakhari

Paediatrics (Lund)

Research output: Contribution to journal › Letter

Original language	English
Article number	e178919
Journal	Journal of Clinical Investigation
Volume	134
Issue number	17
DOIs	https://doi.org/10.1172/JCI178919
Publication status	Published - 2024 Sept

Subject classification (UKÄ)

Pediatrics

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10.1172/JCI178919

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Quiroz, V., Planas-Serra, L., Sveden, A., Tam, A., Kim, H. M., Zubair, U., Resch, D., Saffari, A., Danzi, M. C., Züchner, S., Chopra, M., Schierbaum, L., Pujol, A., Eklund, E. A., & Ebrahimi-Fakhari, D. (2024). Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia. Journal of Clinical Investigation, 134(17), Article e178919. https://doi.org/10.1172/JCI178919

@article{d83f78a5ab5d413d99768f1dbaac2abc,

title = "Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia",

author = "Vicente Quiroz and Laura Planas-Serra and Abigail Sveden and Amy Tam and Kim, \{Hyo Min\} and Umar Zubair and Dario Resch and Afshin Saffari and Danzi, \{Matt C.\} and Stephan Z{\"u}chner and Maya Chopra and Luca Schierbaum and Aurora Pujol and Eklund, \{Erik A.\} and Darius Ebrahimi-Fakhari",

year = "2024",

month = sep,

doi = "10.1172/JCI178919",

language = "English",

volume = "134",

journal = "Journal of Clinical Investigation",

issn = "0021-9738",

publisher = "American Society for Clinical Investigation",

number = "17",

}

Quiroz, V, Planas-Serra, L, Sveden, A, Tam, A, Kim, HM, Zubair, U, Resch, D, Saffari, A, Danzi, MC, Züchner, S, Chopra, M, Schierbaum, L, Pujol, A, Eklund, EA & Ebrahimi-Fakhari, D 2024, 'Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia', Journal of Clinical Investigation, vol. 134, no. 17, e178919. https://doi.org/10.1172/JCI178919

TY - JOUR

T1 - Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia

AU - Quiroz, Vicente

AU - Planas-Serra, Laura

AU - Sveden, Abigail

AU - Tam, Amy

AU - Kim, Hyo Min

AU - Zubair, Umar

AU - Resch, Dario

AU - Saffari, Afshin

AU - Danzi, Matt C.

AU - Züchner, Stephan

AU - Chopra, Maya

AU - Schierbaum, Luca

AU - Pujol, Aurora

AU - Eklund, Erik A.

AU - Ebrahimi-Fakhari, Darius

PY - 2024/9

Y1 - 2024/9

UR - https://www.scopus.com/pages/publications/85203203595

U2 - 10.1172/JCI178919

DO - 10.1172/JCI178919

M3 - Letter

C2 - 38990652

AN - SCOPUS:85203203595

SN - 0021-9738

VL - 134

JO - Journal of Clinical Investigation

JF - Journal of Clinical Investigation

IS - 17

M1 - e178919

ER -

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

Subject classification (UKÄ)

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