New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy-Reference-Cited by-同舟云学术

New mutations found by Next-Generation Sequencing screening of Spanish patients with Nemaline Myopathy

Published:2018-12-05 Issue:12 Volume:13 Page:e0207296
ISSN:1932-6203
Container-title:PLOS ONE
language:en
Short-container-title:PLoS ONE

Author:

Moreau-Le Lan Sarah,Aller Elena,Calabria Ines^ORCID,Gonzalez-Tarancon Lola,Cardona-Gay Cristina,Martinez-Matilla Marina,Aparisi Maria J.,Selles Jorge,Sagath Lydia^ORCID,Pitarch Inmaculada,Muelas Nuria,Cervera Jose V.,Millan Jose M.,Pedrola Laia^ORCID

Funder

Instituto de Salud Carlos III

Publisher

Public Library of Science (PLoS)

Subject

Multidisciplinary

Reference24 articles.

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2. Nemaline myopathy in the Ashkenazi Jewish population is caused by a deletion in the nebulin gene;SL Anderson;Hum Genet,2004

3. Report of the 83rd ENMC International Workshop: 4th Workshop on Nemaline Myopathy, 22–24 September 2000, Naarden, The Netherlands;C Wallgren-Pettersson;Neuromuscul Disord,2001

4. Nemaline myopathy: a clinical study of 143 cases;MM Ryan;Ann Neurol,2001

5. Recessive MYPN mutations cause cap myopathy with occasional nemaline rods;X Lornage;Ann Neurol,2017

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1. Characterization of NEB pathogenic variants in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects;Acta Neuropathologica;2024-04-18

2. Characterization ofNEBmutations in patients reveals novel nemaline myopathy disease mechanisms and omecamtiv mecarbil force effects;2023-12-21

3. 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

4. A Korean Case of Neonatal Nemaline Myopathy Carrying KLHL40 Mutations Diagnosed Using Next Generation Sequencing;Neonatal Medicine;2021-05-31

5. Speech treatment in nemaline myopathy: A single-subject experimental study;Journal of Communication Disorders;2020-11