Evidence map›Paper›PMID 25901280›Full record

ReviewF1000Research2015

A brief review of recent Charcot-Marie-Tooth research and priorities.

Sean Ekins, Nadia K Litterman, Renée J G Arnold, Robert W Burgess, Joel S Freundlich, Steven J Gray, Joseph J Higgins, Brett Langley, Dianna E Willis, Lucia Notterpek and 3 more

Abstract readReview
In one paragraph

Review in F1000Research, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 17 papers.

0numbers the graph read from it
0cells of the map it votes in
17citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

17 citing papers in PubMed.

  1. Trial
  2. Review
  3. Article
  4. Article
  5. Article
  6. Article
  7. Review
  8. PMP22 Regulates Cholesterol Trafficking and ABCA1-Mediated Cholesterol Efflux.The Journal of neuroscience : the official journal of the Society for Neuroscience · 2019
    Article
  9. Exome sequencing reveals a novelExperimental and therapeutic medicine · 2018
    Article
  10. Pathological classification of equine recurrent laryngeal neuropathy.Journal of veterinary internal medicine · 2018
    Review
  11. Article
  12. Review
  13. Review
  14. Promoting peripheral myelin repair.Experimental neurology · 2016
    Review
  15. Article
  16. Article
  17. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

13 authors.

Sean EkinsHereditary Neuropathy Foundation, New York, NY, 10016, USA ; Collaborations in Chemistry, Fuquay Varina, NC, 27526, USA ; Collaborative Drug Discovery, Burlingame, CA, 94010, USA.
Nadia K LittermanCollaborative Drug Discovery, Burlingame, CA, 94010, USA.
Renée J G ArnoldArnold Consultancy & Technology LLC, New York, NY, 10023, USA ; Master of Public Health Program, Mount Sinai School of Medicine, New York, NY, 10029, USA ; Quorum Consulting, Inc, San Francisco, CA, 94104, USA.
Robert W BurgessThe Jackson Laboratory in Bar Harbor, Bar Harbour, ME, 04609, USA.
Joel S FreundlichDepartment of Medicine, Center for Emerging and Reemerging Pathogens, Rutgers University - New Jersey Medical School, Newark, NJ, 07103, USA.
Steven J GrayGene Therapy Center and Dept. of Ophthalmology, University of North Carolina at Chapel Hill, Chapel Hill, NC, 27599-7352, USA.
Joseph J HigginsQuest Diagnostics, Athena Brand, Marlborough, MA, 01572, USA.
Brett LangleyBurke-Cornell Medical Research Institute, White Plains, NY, 10605, USA ; Department of Neurology and Neuroscience, Weill Medical College of Cornell University, New York, NY, 10065, USA.
Dianna E WillisBurke-Cornell Medical Research Institute, White Plains, NY, 10605, USA.
Lucia NotterpekDepartment of Neuroscience, College of Medicine, McKnight Brain Institute, University of Florida, Gainesville, FL, 32611, USA.
David PleasureInstitute for Pediatric Regenerative Medicine, University of California Davis, School of Medicine, Sacramento, CA, 95817, USA ; Department of Neurology, University of California, Davis, School of Medicine, c/o Shriners Hospital, Sacramento, CA, 95817, USA.
Michael W SeredaDepartment of Neurogenetics, Max Planck Institute (MPI) of Experimental Medicine, Göttingen, 37075, Germany ; Department of Clinical Neurophysiology, University Medical Center (UMG), Göttingen, D-37075, Germany.
Allison MooreHereditary Neuropathy Foundation, New York, NY, 10016, USA.

Funding

UNC Neuroscience Center Research Cores: MicroscopyP30NS045892 · NINDS · UNIV OF NORTH CAROLINA CHAPEL HILL · PI ZYLKA, MARK J. · 2003 to 2022
$11.5M
Genetics of the Neuromuscular Junction: Mechanisms and Disease ModelsR01NS054154 · NINDS · JACKSON LABORATORY · PI BURGESS, ROBERT W. · 2006 to 2019
$6.0M
Giant Axonal Neuropathy Gene TherapyR01NS087175 · NINDS · UT SOUTHWESTERN MEDICAL CENTER · PI ARMAO, DIANE, GRAY, STEVEN J · 2014 to 2018
$1.7M
Axonal Transport and Local Translation in Neuropathic PainR00NR010797 · NINR · WINIFRED MASTERSON BURKE MED RES INST · PI WILLIS, DIANNA E. · 2010 to 2012
$733k
NINDS NIH HHS P30 NS045892NINDS NIH HHS R01 NS054154NINDS NIH HHS R01 NS087175NINR NIH HHS R00 NR010797
6 · The paper itself

Abstract

This brief review of current research progress on Charcot-Marie-Tooth (CMT) disease is a summary of discussions initiated at the Hereditary Neuropathy Foundation (HNF) scientific advisory board meeting on November 7, 2014. It covers recent published and unpublished in vitro and in vivo research. We discuss recent promising preclinical work for CMT1A, the development of new biomarkers, the characterization of different animal models, and the analysis of the frequency of gene mutations in patients with CMT. We also describe how progress in related fields may benefit CMT therapeutic development, including the potential of gene therapy and stem cell research. We also discuss the potential to assess and improve the quality of life of CMT patients. This summary of CMT research identifies some of the gaps which may have an impact on upcoming clinical trials. We provide some priorities for CMT research and areas which HNF can support. The goal of this review is to inform the scientific community about ongoing research and to avoid unnecessary overlap, while also highlighting areas ripe for further investigation. The general collaborative approach we have taken may be useful for other rare neurological diseases.

Indexed as

biomarkersCharcot Marie ToothCMT1Adrug discoveryrare disease

Identifiers

PMID25901280
PMCPMC4392824

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.