Expanding the spectrum of SPTLC1 ‐related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct “ S331 syndrome”-Reference-Cited by-同舟云学术

Expanding the spectrum of SPTLC1 ‐related disorders beyond hereditary sensory and autonomic neuropathies: A novel case of the distinct “ S331 syndrome”

Published:2020-06-11 Issue:3 Volume:25 Page:308-311
ISSN:1085-9489
Container-title:Journal of the Peripheral Nervous System
language:en
Short-container-title:J Peripher Nerv Syst

Author:

Rossi Fabiana¹,Bruno Giorgia¹^ORCID,Fratta Mario¹,Colavito Davide²,Casertano Sara¹,Sampaolo Simone¹,Oliva Mariano¹,Puoti Gianfranco¹

Affiliation:

1. Department of Advanced Medical and Surgical Sciences, Second Division of NeurologyUniversity of Campania “Luigi Vanvitelli” Naples Italy

2. Research & Innovation srl (R&I Genetics) Padua Italy

Publisher

Wiley

Subject

Neurology (clinical),General Neuroscience

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1111/jns.12394

Reference5 articles.

1. Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

2. Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

3. HSAN1 mutations in serine palmitoyltransferase reveal a close structure–function–phenotype relationship

4. Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation

5. Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1

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2. Spectrum of SPTLC1-related disorders: a novel case of ‘Ser331 syndrome’ that expand the phenotype of hereditary sensory and autonomic neuropathy type 1A and motor neuron diseases;Neurological Sciences;2023-03-24

3. The SPTLC1 p.S331 mutation bridges sensory neuropathy and motor neuron disease and has implications for treatment;Neuropathology and Applied Neurobiology;2022-08-10

4. A National French Consensus on Gene List for the Diagnosis of Charcot–Marie–Tooth Disease and Related Disorders Using Next-Generation Sequencing;Genes;2022-02-09

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