Xiaona Luo
Shanghai, China
Last Updated: 09/26/2026
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Found 19 publications
Study on Leigh syndrome caused by SURF1 gene mutations and its mechanisms.
Journal: Frontiers in neurology
Published: January 21, 2026
An Alu mediated intergenic inversion in RBCK1 causing Polyglucosan body myopathy type 1.
Journal: Human molecular genetics
Published: November 17, 2025
Preliminary Study on Clinical Characteristics and Pathogenesis of IQSEC2 Mutations Patients.
Journal: Pharmacogenomics and personalized medicine
Published: January 25, 2024
Clinical features and underlying mechanisms of KAT6B disease in a Chinese boy.
Journal: Molecular genetics & genomic medicine
Published: August 22, 2022
Segawa syndrome caused by TH gene mutation and its mechanism.
Journal: Frontiers in genetics
Published: July 27, 2022
Clinical characteristics and genetics of ten Chinese children with PRRT2-associated neurological diseases.
Journal: Frontiers in pediatrics
Published: July 18, 2022
Induced pluripotent stem cells (SHCDNi006-A cells) isolated from the peripheral blood mononuclear cells of a five-month-old Chinese girl with the heterozygous missense mutation (c.2800 G>A) in the KCNT1 gene.
Journal: Stem cell research
Published: February 13, 2022
Clinical Study of 8 Cases of CHD2 Gene Mutation-Related Neurological Diseases and Their Mechanisms.
Journal: Frontiers in cell and developmental biology
Published: January 12, 2022
Correlation Between Tic Disorders and Serum 25-Hydroxyvitamin D Levels in Chinese Children.
Journal: Frontiers in pediatrics
Published: December 11, 2021
Novel Mutations of the ALMS1 Gene in Patients with Alström Syndrome.
Journal: Internal medicine (Tokyo, Japan)
Published: June 21, 2021
Generation of an induced pluripotent stem cell line from an Ohtahara syndrome patient with the hemizygous mutation p.Q503Afs*28 (c.1507_1508del) in the ARX gene.
Journal: Stem cell research
Published: April 13, 2021
Last Updated: 09/26/2026