Ru-ying Yuan
Fuzhou, China
Last Updated: 09/26/2026
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Found 12 publications
A Novel Homozygous RRP12 Variant in a Chinese Patient with Early-Onset Cerebellar Ataxia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 02, 2026
Biallelic loss-of-function mutations in BPNT1 cause vitamin B12-dependent megaloblastic anemia.
Journal: Blood
Published: February 05, 2026
Clinical and Genetic Findings in a Chinese Cohort of Dentatorubral-Pallidoluysian Atrophy Patients.
Journal: Annals of neurology
Published: January 07, 2025
Associations between CAG repeat size, brain and spinal cord volume loss, and motor symptoms in spinocerebellar ataxia type 3: a cohort study.
Journal: Orphanet journal of rare diseases
Published: June 19, 2024
Progressive myoclonic ataxia as an initial symptom of typical type I sialidosis with NEU1 mutation.
Journal: Annals of clinical and translational neurology
Published: April 10, 2024
Characteristics of tandem repeat inheritance and sympathetic nerve involvement in GAA-FGF14 ataxia.
Journal: Journal of human genetics
Published: February 23, 2024
Cognitive impairment associated with cerebellar volume loss in spinocerebellar ataxia type 3.
Journal: Journal of neurology
Published: July 13, 2023
Alu Retrotransposition Event in SPAST Gene as a Novel Cause of Hereditary Spastic Paraplegia.
Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 31, 2023
Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia.
Journal: Frontiers in neurology
Published: November 09, 2020
Evaluation of SORD mutations as a novel cause of Charcot-Marie-Tooth disease.
Journal: Annals of clinical and translational neurology
Published: September 10, 2020
Showing 1-12 of 12
Last Updated: 09/26/2026