Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort-Reference-Cited by-同舟云学术

Rare mutations in ATL3, SPTLC2 and SCN9A explaining hereditary sensory neuropathy and congenital insensitivity to pain in a Brazilian cohort

Published:2021-08 Issue: Volume:427 Page:117498
ISSN:0022-510X
Container-title:Journal of the Neurological Sciences
language:en
Short-container-title:Journal of the Neurological Sciences

Author:

Cintra Vivian Pedigone,Dohrn Maike F.,Tomaselli Pedro José,Figueiredo Fernanda Barbosa,Marques Sandra Elisabete,Camargos Sarah Teixeira,Barbosa Luiz Sergio Mageste,P. Rebelo Adriana,Abreu Lisa,Danzi Matt,Marques Wilson,Züchner Stephan

Funder

NINDS

Publisher

Elsevier BV

Subject

Neurology (clinical),Neurology

Reference20 articles.

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5. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology;Richards;Genet. Med.,2015

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1. A new look at an old body: molecular determinants of Weibel-Palade body composition and von Willebrand factor exocytosis;Journal of Thrombosis and Haemostasis;2024-05

2. A novel mutation in the SCN9A gene associated with congenital insensitivity to pain, anhidrosis, and mild cognitive impairment;Pediatric Dermatology;2023-06-22

3. The First Large Deletion of ATL3 Identified in a Patient Presenting with a Sensory Polyneuropathy;Biomedicines;2023-05-28

4. Novel SCN9A variant associated with congenital insensitivity to pain;Molecular Biology Reports;2023-05-25

5. Advances in diagnosis and management of distal sensory polyneuropathies;Journal of Neurology, Neurosurgery & Psychiatry;2023-03-30