Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone-Reference-Cited by-同舟云学术

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Novel Mutations in the Nonselective Sodium Leak Channel (NALCN) Lead to Distal Arthrogryposis with Increased Muscle Tone

Published:2016-05-23 Issue:04 Volume:47 Page:273-277
ISSN:0174-304X
Container-title:Neuropediatrics
language:en
Short-container-title:Neuropediatrics

Author:

Karakaya Mert¹,Heller Raoul¹,Kunde Volkmar²,Zimmer Klaus-Peter³,Chao Cho-Ming³,Nürnberg Peter⁴,Cirak Sebahattin¹

Affiliation:

1. Institute of Human Genetics, University Hospital Cologne, Cologne, Germany

2. Christliches Kinderhospital, Osnabrück, Germany

3. University Children's Hospital Gießen, Division of General Pediatrics and Neonatology, Gießen, Germany

4. Cologne Center for Genomics, University of Cologne, Cologne, Germany

Publisher

Georg Thieme Verlag KG

Subject

Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0036-1584084.pdf

Cited by 18 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. New insights into the physiology and pathophysiology of the atypical sodium leak channel NALCN;Physiological Reviews;2024-01-01

2. Case Report: A de novo Variant in NALCN Associated With CLIFAHDD Syndrome in a Chinese Infant;Frontiers in Pediatrics;2022-07-13

3. Novel variant c.1838A>G, p.(Gln613Arg) in NALCNcauses camptodactyly and cognitive delay;Clinical Dysmorphology;2022-06-27

4. Structure of voltage-modulated sodium-selective NALCN-FAM155A channel complex;Nature Communications;2020-12

5.

A Homozygous Truncating Mutation in NALCN Causing IHPRF1: Detailed Clinical Manifestations and a Review of Literature

;The Application of Clinical Genetics;2020-08

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