E-LIB Suche - Ergebnisse für: Qiu, Yu‐Sen

1

Homozygous variant in COQ7 causes autosomal recessive hered..:

Qiu, Yusen ; Xiong, Ying ; Wang, Lulu...
Annals of Clinical and Translational Neurology. 11 (2024) 4 - p. 1067-1074 , 2024

Link: https://doi.org/10.1002/..

2

Characteristics of tandem repeat inheritance and sympatheti..:

Zheng, Ze-Hong ; Cao, Chun-Yan ; Cheng, Bi...
Journal of Human Genetics. , 2024

Link: https://doi.org/10.1038/..

3

Clinical and pathological characteristics of OPDM4 patients..:

Tang, Haixia ; Xiong, Ying ; Jiang, Kaiyan...
Muscle & Nerve. , 2024

Link: https://doi.org/10.1002/..

4

COASY variant as a new genetic cause of riboflavin-responsi..:

Zheng, Yilei ; Liufu, Tongling ; Wen, Bing...
Cell Discovery. 10 (2024) 1 - p. , 2024

Link: https://doi.org/10.1038/..

5

Clinical and genetic characteristics of myotonia congenita ..:

He, Yuting ; Qiu, Yusen ; Xiong, Ying...
Channels. 18 (2024) 1 - p. , 2024

Link: https://doi.org/10.1080/..

6

Cognitive impairment associated with cerebellar volume loss..:

Ye, Zhi-Xian ; Bi, Jin ; Qiu, Liang-Liang...
Journal of Neurology. 271 (2023) 2 - p. 918-928 , 2023

Link: https://doi.org/10.1007/..

7

Alu Retrotransposition Event in SPAST Gene as a Novel Cause..:

Chen, Yi‐Jun ; Wang, Meng‐Wen ; Qiu, Yu‐Sen...
Movement Disorders. 38 (2023) 9 - p. 1750-1755 , 2023

Link: https://doi.org/10.1002/..

8

Biallelic COQ4 Variants in Hereditary Spastic Paraplegia: C..:

Lin, Xiang ; Jiang, Jun‐Yi ; Hong, Dao‐jun...
Movement Disorders. 39 (2023) 1 - p. 152-163 , 2023

Link: https://doi.org/10.1002/..

9

Expanding the phenotype and genotype spectra of PLIN4-assoc..:

Yang, Kang ; Zeng, Yi-Heng ; Qiu, Yu-Sen...
Acta Neuropathologica. 143 (2022) 6 - p. 733-735 , 2022

Link: https://doi.org/10.1007/..

10

GGC Repeat Expansion of RILPL1 is Associated with Oculophar..:

Zeng, Yi‐Heng ; Yang, Kang ; Du, Gan‐Qin...
Annals of Neurology. 92 (2022) 3 - p. 512-526 , 2022

Link: https://doi.org/10.1002/..

11

Chinese patients with hereditary spastic paraplegias (HSPs)..:

Qiu, Yu-Sen ; Zeng, Yi-Heng ; Yuan, Ru-Ying...
BMJ Open. 12 (2022) 1 - p. e054011 , 2022

Link: https://doi.org/10.1136/..

12

Altered brain white matter structural motor network in spin..:

Chen, Xin‐Yuan ; Huang, Zi‐Qiang ; Lin, Wei...
Annals of Clinical and Translational Neurology. 10 (2022) 2 - p. 225-236 , 2022

Link: https://doi.org/10.1002/..

13

Novel Compound Missense and Intronic Splicing Mutation in A..:

Chen, Yi-Jun ; Zhang, Zai-Qiang ; Wang, Meng-Wen...
Frontiers in Neurology. 12 (2021) - p. , 2021

Link: https://doi.org/10.3389/..

14

Bilateral striatal necrosis due to homoplasmic mitochondria..:

Zhong, Shanshan ; Wen, Shumeng ; Qiu, Yusen...
Molecular Genetics & Genomic Medicine. 7 (2019) 3 - p. , 2019

Link: https://doi.org/10.1002/..

15

A novel KIF5A gene variant causes spastic paraplegia and ce..:

Qiu, Yusen ; Zhong, Shanshan ; Cong, Lu...
Annals of Clinical and Translational Neurology. 5 (2018) 11 - p. 1415-1420 , 2018

Link: https://doi.org/10.1002/..