PANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family-Reference-Cited by-同舟云学术

PANK2 p.A170fs：a novel pathogenetic mutation, compound with PANK2 p.R440P, causing pantothenate kinase Associated neurodegeneration in a Chinese family

Published:2020-10-14 Issue: Volume: Page:1-7
ISSN:0020-7454
Container-title:International Journal of Neuroscience
language:en
Short-container-title:International Journal of Neuroscience

Author:

Yang Fan¹²,Wang Juan¹²,Yang Ze³,Ren Zhaorui¹²,Zeng Fanyi¹²⁴^ORCID

Affiliation:

1. Shanghai Institute of Medical Genetics, Shanghai Children’s Hospital, Shanghai Jiao Tong University School of Medicine, Shanghai, P. R. China

2. Key Laboratory of Embryo Molecular Biology, National Health Commission & Shanghai Key Laboratory of Embryo and Reproduction Engineering, Shanghai, P. R. China

3. The MOH Key Laboratory of Geriatrics, Beijing Hospital, National Center of Gerontology, Beijing, P. R. China

4. Department of Histo-Embryology, Genetics and Developmental Biology, Shanghai Jiao Tong University School of Medicine, Shanghai, P. R. China

Funder

National Key R&D Program of China

Shanghai Key Disciplines Program

Laboratory Animal Research Project of Science and Technology Commission of Shanghai Municipality

National Department Public Benefit Research Foundation of Ministry of Health P. R. China

National Program from the Chinese Ministry of Scientific Technology

Publisher

Informa UK Limited

Subject

General Medicine,General Neuroscience

Link

https://www.tandfonline.com/doi/pdf/10.1080/00207454.2020.1828883

Reference40 articles.

1. A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging

2. Clinical and genetic delineation of neurodegeneration with brain iron accumulation

3. Young-Onset Parkinsonism in a Hong Kong Chinese Man With Adult-Onset Hallervorden–Spatz Syndrome

4. Genetic, Clinical, and Radiographic Delineation of Hallervorden–Spatz Syndrome

5. Unraveling the Hallervorden-Spatz syndrome: pantothenate kinase???associated neurodegeneration is the name . . .

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