Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 ‐ implications for retinal screening in <scp>HSN1</scp>-Reference-Cited by-同舟云学术

Description of a patient cohort with Hereditary Sensory Neuropathy type 1 without retinal disease Macular Telangiectasia type 2 ‐ implications for retinal screening in HSN1

Published:2022-08 Issue:3 Volume:27 Page:215-224
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripheral Nervous Sys

Author:

Rodrigues Filipa Gomes¹²³⁴^ORCID,Pipis Menelaos⁵,Heeren Tjebo F.C.¹²³,Fruttiger Marcus³,Gantner Mari⁶,Vermeirsch Sandra¹³⁷,Okada Mali⁸,Friedlander Martin⁶,Reilly Mary M⁵,Egan Catherine¹²³

Affiliation:

1. Medical Retina Service Moorfields Eye Hospital NHS Foundation Trust London UK

2. National Institute for Health Research Biomedical Research Centre Moorfields Eye Hospital NHS Foundation Trust and UCL Institute of Ophthalmology London UK

3. UCL Institute of Ophthalmology University College London London UK

4. Ophthalmology Department Hospital de Vila Franca de Xira Vila Franca de Xira Portugal

5. Centre for Neuromuscular Diseases UCL Queen Square Institute of Neurology London UK

6. Lowy Medical Research Institute La Jolla California USA

7. Hôpital Ophtalmique Jules‐Gonin, Fondation Asile des Aveugles Université de Lausanne Lausanne Switzerland

8. Royal Victorian Eye and Ear Hospital Melbourne Australia

Funder

Lowy Medical Research Institute

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12508

Reference39 articles.

1. Cloning and Initial Characterization of a New Subunit for Mammalian Serine-palmitoyltransferase

2. 1-Deoxysphingolipids

3. 1-Deoxysphingolipids Encountered Exogenously and Made de Novo: Dangerous Mysteries inside an Enigma

4. Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

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