A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation-Reference-Cited by-同舟云学术

A novel mutation in NEB causing foetal nemaline myopathy with arthrogryposis during early gestation

Published:2021-03 Issue:3 Volume:31 Page:239-245
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Rocha Maria L.,Dittmayer Carsten,Uruha Akinori,Korinth Dirk,Chaoui Rabih,Schlembach Dietmar,Rossi Rainer,Pelin Katarina,Suk Eun Kyung,Schmid Simone,Goebel Hans H.,Schuelke Markus,Stenzel Werner,Englert Benjamin

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

Reference35 articles.

1. Congenital myopathies: clinical phenotypes and new diagnostic tools;Cassandrini;Ital J Pediatr,2017

2. Nemaline myopathies: state of the art;Malfatti;Rev Neurol (Paris),2016

3. Muscle histopathology in nebulin-related nemaline myopathy: ultrastrastructural findings correlated to disease severity and genotype;Malfatti;Acta Neuropathol Commun,2014

4. Mutation update: the spectra of nebulin variants and associated myopathies;Lehtokari;Hum Mutat,2014

5. Roles of nebulin family members in the heart;Bang;Circ J,2015

Cited by 4 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. Clinical and molecular analysis of nine fetal cases with clinically significant variants causing nemaline myopathy;European Journal of Obstetrics & Gynecology and Reproductive Biology;2024-01

2. Case report: identification of one frameshift variant and two in cis non-canonical splice variants of NEB gene in prenatal arthrogryposis;Frontiers in Genetics;2023-08-31

3. Identification of genetic alterations in couples and their products of conceptions from recurrent pregnancy loss in North Indian population;Frontiers in Genetics;2023-05-16

4. Case Report: Prenatal Diagnosis of Nemaline Myopathy;Frontiers in Pediatrics;2022-07-19