Clinical and radiological characterization of novel FIG4 ‐related combined system disease with neuropathy-Reference-Cited by-同舟云学术

Clinical and radiological characterization of novel FIG4 ‐related combined system disease with neuropathy

Published:2020-06-10 Issue:2 Volume:98 Page:147-154
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:Clin Genet

Author:

Wright Georgia C.¹^ORCID,Brown Richard²,Grayton Hannah³,Livingston John H.⁴,Park Soo‐Mi³,Parker Alasdair P.J.¹⁵,Patel Anjla⁶,Simonic Ingrid³,Thomas Adam G.⁷,Vadlamani Gayatri⁴,Horvath Rita⁸,Harijan Pooja D.⁵

Affiliation:

1. University of Cambridge School of Clinical Medicine Cambridge United Kingdom

2. PaediatricsNorth West Anglia NHS Foundation Trust Peterborough United Kingdom

3. Department of Clinical Genetics, Addenbrooke's HospitalEast Anglian Genetics Service Cambridge United Kingdom

4. Paediatric NeurologyThe Leeds Teaching Hospitals NHS Trust, Leeds General Infirmary Leeds United Kingdom

5. Paediatric NeurologyCambridge University Hospitals NHS Trust Cambridge United Kingdom

6. Department of Clinical NeurophysiologyCambridge University Hospitals NHS Trust Cambridge United Kingdom

7. Neuroradiology, Queens Medical CentreNottingham University Hospitals NHS Trust Nottingham United Kingdom

8. Department of Clinical NeurosciencesUniversity of Cambridge Cambridge United Kingdom

Funder

H2020 European Research Council

Medical Research Council Canada

Newton Fund

Wellcome Trust

Publisher

Wiley

Subject

Genetics(clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/cge.13771

Reference32 articles.

1. The mammalian phosphatidylinositol 3-phosphate 5-kinase (PIKfyve) regulates endosome-to-TGN retrograde transport

2. Phosphatidylinositol 3,5-bisphosphate: metabolism and cellular functions

3. Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

4. Distinct pathogenic processes between Fig4-deficient motor and sensory neurons

5. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J

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