Novel stop‐gain <scp> <i>RNF170</i> </scp> variation detected in a Chinese family with adolescent‐onset hereditary spastic paraplegia-Reference-Cited by-同舟云学术

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Novel stop‐gain RNF170 variation detected in a Chinese family with adolescent‐onset hereditary spastic paraplegia

Published:2022-09-08 Issue:1 Volume:103 Page:87-92
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clinical Genetics

Author:

Fu Jing‐Xin¹,Wei Qiao¹,Chen Yu‐Lan¹²,Li Hong‐Fu¹²³^ORCID

Affiliation:

1. Department of Neurology, Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China

2. Department of Medical Genetics, Second Affiliated Hospital Zhejiang University School of Medicine Hangzhou China

3. MOE Frontier Science Center for Brain Research and Brain‐Machine Integration Zhejiang University Hangzhou China

Funder

National Natural Science Foundation of China

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.14219

Reference17 articles.

1. Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

2. Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

3. Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

4. Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia

5. RNF170 ‐Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation

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1. Canine RNF170 Single Base Deletion in a Naturally Occurring Model for Human Neuroaxonal Dystrophy;Movement Disorders;2024-08-23

2. RNF170 frameshift deletion in Miniature American Shepherd dogs with neuroaxonal dystrophy provides a naturally occurring model for human RNF170 phenotypic spectrum;2024-02-01

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