A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

Cesar Chacaltana-Vinas; Patricia Ramirez-Pajares; Alid Manrique-Palomino; Amanda R. Clause; Aditi Chawla; Erin Thorpe; Ryan Taft; Andrea Rivera-Valdivia; Elison Sarapura-Castro; Jeny Bazalar-Montoya; Mario Cornejo-Olivas

doi:10.1002/mdc3.14025

A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

Cesar Chacaltana-Vinas, Patricia Ramirez-Pajares, Alid Manrique-Palomino, Amanda R. Clause, Aditi Chawla, Erin Thorpe, Ryan Taft, Andrea Rivera-Valdivia, Elison Sarapura-Castro, Jeny Bazalar-Montoya, Mario Cornejo-Olivas

Research output: Contribution to journal › Letter › peer-review

Original language	English
Pages (from-to)	746-748
Number of pages	3
Journal	Movement Disorders Clinical Practice
Volume	11
Issue number	6
DOIs	https://doi.org/10.1002/mdc3.14025
State	Published - Jun 2024

Keywords

NADGP
Peruvian
neurodegeneration
recessive ataxia

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10.1002/mdc3.14025

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Chacaltana-Vinas, C., Ramirez-Pajares, P., Manrique-Palomino, A., Clause, A. R., Chawla, A., Thorpe, E., Taft, R., Rivera-Valdivia, A., Sarapura-Castro, E., Bazalar-Montoya, J., & Cornejo-Olivas, M. (2024). A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family. Movement Disorders Clinical Practice, 11(6), 746-748. https://doi.org/10.1002/mdc3.14025

@article{d859af29cb2c4b0997e00a7030013ac9,

title = "A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family",

keywords = "NADGP, Peruvian, neurodegeneration, recessive ataxia",

author = "Cesar Chacaltana-Vinas and Patricia Ramirez-Pajares and Alid Manrique-Palomino and Clause, {Amanda R.} and Aditi Chawla and Erin Thorpe and Ryan Taft and Andrea Rivera-Valdivia and Elison Sarapura-Castro and Jeny Bazalar-Montoya and Mario Cornejo-Olivas",

year = "2024",

month = jun,

doi = "10.1002/mdc3.14025",

language = "Ingl{\'e}s",

volume = "11",

pages = "746--748",

journal = "Movement Disorders Clinical Practice",

issn = "2330-1619",

publisher = "John Wiley and Sons Ltd",

number = "6",

}

Chacaltana-Vinas, C, Ramirez-Pajares, P, Manrique-Palomino, A, Clause, AR, Chawla, A, Thorpe, E, Taft, R, Rivera-Valdivia, A, Sarapura-Castro, E, Bazalar-Montoya, J & Cornejo-Olivas, M 2024, 'A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family', Movement Disorders Clinical Practice, vol. 11, no. 6, pp. 746-748. https://doi.org/10.1002/mdc3.14025

TY - JOUR

T1 - A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

AU - Chacaltana-Vinas, Cesar

AU - Ramirez-Pajares, Patricia

AU - Manrique-Palomino, Alid

AU - Clause, Amanda R.

AU - Chawla, Aditi

AU - Thorpe, Erin

AU - Taft, Ryan

AU - Rivera-Valdivia, Andrea

AU - Sarapura-Castro, Elison

AU - Bazalar-Montoya, Jeny

AU - Cornejo-Olivas, Mario

PY - 2024/6

Y1 - 2024/6

KW - NADGP

KW - Peruvian

KW - neurodegeneration

KW - recessive ataxia

UR - http://www.scopus.com/inward/record.url?scp=85189556236&partnerID=8YFLogxK

U2 - 10.1002/mdc3.14025

DO - 10.1002/mdc3.14025

M3 - Carta

AN - SCOPUS:85189556236

SN - 2330-1619

VL - 11

SP - 746

EP - 748

JO - Movement Disorders Clinical Practice

JF - Movement Disorders Clinical Practice

IS - 6

ER -

A Novel Variant in SQSTM1 Gene Causing Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy in a Peruvian Family

Keywords

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