Evidence map›Paper›PMID 40343019›Full record

ArticlemedRxiv : the preprint server for health sciences2025

Charcot-Marie-Tooth disease type 1E: Clinical Natural History and Molecular Impact of

Kailee S Ward, Christopher P Ptak, Natalya Pashkova, Tiffany Grider, Tabitha A Peterson, Davide Pareyson, Chiara Pisciotta, Paola Saveri, Isabella Moroni, Matilde Laura and 17 more

Abstract readPreprint
In one paragraph

Article in medRxiv : the preprint server for health sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing 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

0 citing papers in PubMed.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

5 · Who and what money

Authors and funding

27 authors.

Kailee S WardDepartment of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA.
Christopher P PtakBiomolecular Nuclear Magnetic Resonance Facility, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.ORCID 0000-0003-2752-0367
Natalya PashkovaDepartment of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.ORCID 0000-0002-2191-4683
Tiffany GriderDepartment of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA.ORCID 0000-0002-2236-9218
Tabitha A PetersonDepartment of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.ORCID 0000-0003-0780-5795
Davide PareysonDepartment of Clinical Neurosciences, Fondazione IRCCS Instituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0001-6854-765X
Chiara PisciottaDepartment of Clinical Neurosciences, Fondazione IRCCS Instituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-3850-076X
Paola SaveriDepartment of Clinical Neurosciences, Fondazione IRCCS Instituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-5396-997X
Isabella MoroniDepartment of Pediatric Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-3322-1681
Matilde LauraDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Joshua BurnsDepartment of Epidemiology and Cancer Control, St. Jude Children's Research Hospital, Memphis, TN, USA.
Manoj P MenezesUniversity of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospital Network, Sydney, 2145 Australia.ORCID 0000-0003-3160-6112
Kayla CornettUniversity of Sydney School of Health Sciences, Faculty of Medicine and Health; Paediatric Gait Analysis Service of New South Wales, Sydney Children's Hospital Network, Sydney, 2145 Australia.ORCID 0000-0002-9863-1040
Richard FinkelCenter for Experimental Neurotherapies, St. Jude Children's Research Hospital, Memphis, TN USA.ORCID 0000-0002-9351-7054
Bipasha Mukherjee-ClavinDepartment of Neurology, John Hopkins University School of Medicine, Baltimore, MD 21205.ORCID 0000-0002-0770-5850
Charlotte J SumnerDepartment of Neurology, John Hopkins University School of Medicine, Baltimore, MD 21205.ORCID 0000-0001-5088-6012
Maxwell GreeneDepartment of Neurology, Stanford University, Stanford, CA 94304, USA.
Omer Abdul HamidDepartment of Neurology, Nemours Children's Hospital, Orland, FL 32827, USA.
David HerrmannDepartment of Neurology, University of Rochester, Rochester, NY 14618, USA.ORCID 0000-0002-9030-9516
Reza SadjadiDepartment of Neurology, Massachusetts General Hospital, Boston, MA 02114, USA.ORCID 0000-0003-3829-6030
David WalkDepartment of Neurology, University of Minnesota, Minneapolis, MN 55455, USA.
Stephan ZüchnerDr. John T. Macdonald Foundation Department of Human Genetics, University of Miami Miller School of Medicine, Miami, FL, 33136, USA.
Mary M ReillyDepartment of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, WC1N 3BG, UK.
Steven S SchererDepartment of Neurology, University of Pennsylvania, Philadelphia, PA 19104, USA.ORCID 0000-0002-3900-2367
Inherited Neuropathy Consortium
Robert C PiperDepartment of Molecular Physiology and Biophysics, University of Iowa Carver College of Medicine, Iowa City, IA 52242, USA.ORCID 0000-0001-9995-5699
Michael E ShyDepartment of Neurology, University of Iowa Health Care Medical Center, Iowa City, IA 52242, USA.ORCID 0000-0001-8460-6971

Funding

trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6M
Ubiquitin-Dependent Sorting in Endosomes and the TGNR01GM058202 · NIGMS · UNIVERSITY OF IOWA · PI PIPER, ROBERT C · 1998 to 2025
$8.9M
NIGMS NIH HHS R01 GM058202NINDS NIH HHS U54 NS065712
6 · The paper itself

Abstract

Charcot-Marie-Tooth disease type 1E (CMT1E) is a rare, autosomal dominant peripheral neuropathy caused by missense variants, deletions, and truncations within the

Indexed as

Charcot-Marie-Tooth type 1E (CMT1E)natural historyPMP22

Identifiers

PMID40343019
PMCPMC12060940

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.