Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders-Reference-Cited by-同舟云学术

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Insights from European Reference Network for rare neurological disorders study surveys on diagnosis, treatment, and management of NKX2-1-related disorders

Published:2024-07 Issue: Volume:51 Page:110-117
ISSN:1090-3798
Container-title:European Journal of Paediatric Neurology
language:en
Short-container-title:European Journal of Paediatric Neurology

Author:

Nou-Fontanet Laia,Nguyen Quang Tuan Rémy,Bachoud-Levi Anne-Catherine^ORCID,Reinhard Carola,Ortigoza-Escobar Juan Darío^ORCID

Publisher

Elsevier BV

Reference28 articles.

1. Comprehensive genotyping and clinical characterisation reveal 27 novel NKX2-1 mutations and expand the phenotypic spectrum;Thorwarth;J. Med. Genet.,2014

2. Heterogeneity of lung disease associated with NK2 homeobox 1 mutations;Nattes;Respir. Med.,2017

3. Detection and characterization of a de novo alu retrotransposition event causing NKX2-1-related disorder;Magrinelli;Mov. Disord.,2023

4. Deletion of conserved non-coding sequences downstream from NKX2-1: a novel disease-causing mechanism for benign hereditary chorea;Liao;Mol Genet Genomic Med,2021

5. Benign hereditary chorea: an update;Peall;Tremor Other Hyperkinet Mov (N Y),2015

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