Literature DB >> 27206872

N98S mutation in NEFL gene is dominantly inherited with a phenotype of polyneuropathy and cerebellar atrophy.

Yi Yang1, Li-Qiang Gu1, William B Burnette2, Jun Li3.   

Abstract

Entities:  

Keywords:  Axonal loss; Cerebellar atrophy; Charcot–Marie–Tooth disease; Dysmyelination; Myelin; NEFL; Nerve conduction study

Mesh：

Substances：

Year:  2016        PMID： 27206872      PMCID： PMC4877039          DOI： 10.1016/j.jns.2016.04.007

Source DB:  PubMed          Journal:  J Neurol Sci        ISSN： 0022-510X            Impact factor:   3.181


× No keyword cloud information.
  8 in total

Review 1.  Inherited neuropathies.

Authors:  Jun Li
Journal:  Semin Neurol       Date:  2012-11-01       Impact factor: 3.420

2.  Reduced neurofilament expression in cutaneous nerve fibers of patients with CMT2E.

Authors:  Chiara Pisciotta; Yunhong Bai; Kathryn M Brennan; Xingyao Wu; Tiffany Grider; Shawna Feely; Suola Wang; Steven Moore; Carly Siskind; Michael Gonzalez; Stephan Zuchner; Michael E Shy
Journal:  Neurology       Date:  2015-06-24       Impact factor: 9.910

3.  Neurofilament light polypeptide gene N98S mutation in mice leads to neurofilament network abnormalities and a Charcot-Marie-Tooth Type 2E phenotype.

Authors:  Adijat A Adebola; Theo Di Castri; Chui-Zhen He; Laura A Salvatierra; Jian Zhao; Kristy Brown; Chyuan-Sheng Lin; Howard J Worman; Ronald K H Liem
Journal:  Hum Mol Genet       Date:  2014-12-30       Impact factor: 6.150

Review 4.  Molecular regulators of nerve conduction - Lessons from inherited neuropathies and rodent genetic models.

Authors:  Jun Li
Journal:  Exp Neurol       Date:  2015-03-17       Impact factor: 5.330

5.  Axonal neurofilaments control multiple fiber properties but do not influence structure or spacing of nodes of Ranvier.

Authors:  Rodolphe Perrot; Pierre Lonchampt; Alan C Peterson; Joël Eyer
Journal:  J Neurosci       Date:  2007-09-05       Impact factor: 6.167

6.  NEFL N98S mutation: another cause of dominant intermediate Charcot-Marie-Tooth disease with heterogeneous early-onset phenotype.

Authors:  José Berciano; Kristien Peeters; Antonio García; Tomás López-Alburquerque; Elena Gallardo; Arantxa Hernández-Fabián; Ana L Pelayo-Negro; Els De Vriendt; Jon Infante; Albena Jordanova
Journal:  J Neurol       Date:  2015-12-08       Impact factor: 4.849

7.  A novel recessive Nefl mutation causes a severe, early-onset axonal neuropathy.

Authors:  Sabrina W Yum; Junxian Zhang; Katie Mo; Jian Li; Steven S Scherer
Journal:  Ann Neurol       Date:  2009-12       Impact factor: 10.422

8.  Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease.

Authors:  Sinéad M Murphy; David N Herrmann; Michael P McDermott; Steven S Scherer; Michael E Shy; Mary M Reilly; Davide Pareyson
Journal:  J Peripher Nerv Syst       Date:  2011-09       Impact factor: 3.494
  8 in total
  5 in total

Review 1.  Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.

Authors:  José Berciano; Antonio García; Elena Gallardo; Kristien Peeters; Ana L Pelayo-Negro; Silvia Álvarez-Paradelo; José Gazulla; Miriam Martínez-Tames; Jon Infante; Albena Jordanova
Journal:  J Neurol       Date:  2017-03-31       Impact factor: 4.849

2.  Genetic and clinical characteristics of NEFL-related Charcot-Marie-Tooth disease.

Authors:  Alejandro Horga; Matilde Laurà; Zane Jaunmuktane; Nivedita U Jerath; Michael A Gonzalez; James M Polke; Roy Poh; Julian C Blake; Yo-Tsen Liu; Sarah Wiethoff; Conceição Bettencourt; Michael Pt Lunn; Hadi Manji; Michael G Hanna; Henry Houlden; Sebastian Brandner; Stephan Züchner; Michael Shy; Mary M Reilly
Journal:  J Neurol Neurosurg Psychiatry       Date:  2017-05-13       Impact factor: 10.154

Review 3.  New evidence for secondary axonal degeneration in demyelinating neuropathies.

Authors:  Kathryn R Moss; Taylor S Bopp; Anna E Johnson; Ahmet Höke
Journal:  Neurosci Lett       Date:  2020-12-24       Impact factor: 3.046

4.  MicroRNA-7a ameliorates neuropathic pain in a rat model of spinal nerve ligation via the neurofilament light polypeptide-dependent signal transducer and activator of transcription signaling pathway.

Authors:  Feng-Rui Yang; Ji Chen; Han Yi; Liang-Yu Peng; Xiao-Ling Hu; Qu-Lian Guo
Journal:  Mol Pain       Date:  2019 Jan-Dec       Impact factor: 3.395

5.  Allele-Specific Gene Editing Rescues Pathology in a Human Model of Charcot-Marie-Tooth Disease Type 2E.

Authors:  Carissa M Feliciano; Kenneth Wu; Hannah L Watry; Chiara B E Marley; Gokul N Ramadoss; Hana Y Ghanim; Angela Z Liu; Lyandysha V Zholudeva; Todd C McDevitt; Mario A Saporta; Bruce R Conklin; Luke M Judge
Journal:  Front Cell Dev Biol       Date:  2021-08-16
  5 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.