Trial reportNeurology2017
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Registry-linked trialOpen access · hybridAbstract readClinical TrialMulticenter Study
In one paragraph
Trial report in Neurology, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT01193075 (Natural History Evaluation of Charcot Marie Tooth Disease), which is not on this map. Cited by 32 papers, 1 of them a synthesis that pooled it.
0numbers the graph read from it
0cells of the map it votes in
32citing papers in PubMed, 1 pooled it
2.6field-weighted citation impact, top 10% of its field
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.
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.
Natural History Evaluation of Charcot Marie Tooth Disease (CMT) Type (CMT1B), 2A (CMT2A), 4A (CMT4A), 4C (CMT4C), and Others
Who cites it
32 citing papers in PubMed, 1 synthesis or guideline pooled it, 55 citations in OpenAlex.
- Age-Dependent Progression of Neurological Involvement in PRPP Deficiency: Insights from a Four-Generation Family and Systematic Review.Biomolecules · 2026Pooled it
- Review
- Pediatric Cohort of Charcot-Marie-Tooth Disease: Clinical Features and Genetic Distribution.Neurology. Genetics · 2026Article
- Charcot-Marie-Tooth disease and related neuropathies.Nature reviews. Disease primers · 2026Review
- Split Hand Syndrome in Charcot-Marie-Tooth Disease Type X1 (CMTX1): A Clinical, Neurophysiological, and Radiological Study.European journal of neurology · 2025Article
- Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.European journal of neurology · 2025Article
- Delineating the genetic landscape of Charcot-Marie-tooth disease in Türkiye: Distinct distribution, rare phenotypes, and novel variants.European journal of neurology · 2025Article
- A fully human IgG1 antibody targeting connexin 32 extracellular domain blocks CMTX1 hemichannel dysfunction in an in vitro model.Cell communication and signaling : CCS · 2024Article
- Lower limb muscle MRI fat fraction is a responsive outcome measure in CMT X1, 1B and 2A.Annals of clinical and translational neurology · 2024Article
- Spatial Fluctuation of Central Nervous System Lesions in X-linked Charcot-Marie-Tooth Disease with a Novel GJB1 Mutation.Internal medicine (Tokyo, Japan) · 2024Article
- Generation of Connexin-Expressing Stable Cell Pools.Methods in molecular biology (Clifton, N.J.) · 2024Article
- Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.Journal of clinical neurology (Seoul, Korea) · 2024Article
- Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.Brain : a journal of neurology · 2023Article
- Phenotypic characterization of c.379A > G GJB1 mutation in a Charcot-Marie-Tooth female patient.Acta neurologica Belgica · 2023Article
- Trials for Slowly Progressive Neurogenetic Diseases Need Surrogate Endpoints.Annals of neurology · 2023Review
- Mutations in MYO9B are associated with Charcot-Marie-Tooth disease type 2 neuropathies and isolated optic atrophy.European journal of neurology · 2023Article
- Clinical and mutational spectrum of paediatric Charcot-Marie-Tooth disease in a large cohort of Chinese patients.Frontiers in genetics · 2023Article
- NCAM1 and GDF15 are biomarkers of Charcot-Marie-Tooth disease in patients and mice.Brain : a journal of neurology · 2022Article
- Virtual Charcot-Marie-Tooth Examination Score: A Validated Virtual Evaluation for People With Charcot-Marie-Tooth Disease.Neurology. Clinical practice · 2022Article
- GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.Journal of the peripheral nervous system : JPNS · 2022Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
17 authors at 9 institutions in 4 countries.
Francis B PanosyanFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia. 4fbp@queensu.ca.
Matilde LauraFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Alexander M RossorFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Chiara PisciottaFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Giuseppe PiscosquitoFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Joshua BurnsFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Jun LiFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Sabrina W YumFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Richard A LewisFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
John DayFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Rita HorvathFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
David N HerrmannFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Michael E ShyFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Davide PareysonFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Mary M ReillyFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Steven S SchererFrom the Department of Neurology (F.B.P., D.N.H.), University of Rochester Medical Center, NY; MRC Centre for Neuromuscular Diseases (M.L., A.M.R., M.M.R.), UCL Institute of Neurology, UK; Department of Neurology (C.P., D.P.), Carlo Besta Neurological Institute, Milan, Italy; Department of Neurosciences (G.P.), Institute of Telese Terme (BN), Italy; Children's Hospital at Westmead (J.B.), University of Sydney, Australia; Department of Neurology (J.L.), Vanderbilt University, Nashville, TN; Neuromuscular Program (S.W.Y.), Children's Hospital of Philadelphia, PA; Department of Neurology (R.A.L.), Cedars-Sinai Medical Center, Los Angeles, CA; Department of Neurology (J.D.), Stanford University, CA; Institute of Genetic Medicine (R.H.), Newcastle University, UK; Department of Neurology (M.E.S.), University of Iowa Hospitals and Clinics; and Department of Neurology (S.S.S.), University of Pennsylvania, Philadelphia.
Inherited Neuropathies Consortium—Rare Diseases Clinical Research Network (INC-RDCRN)
Vanderbilt University · USItalian Institute of Telemedicine · ITResearch Network (United States) · USNewcastle University · GBFondazione IRCCS Istituto Neurologico Carlo Besta · ITStanford University · USChildren's Hospital of Philadelphia · USCedars-Sinai Medical Center · USUniversity of Sydney · AU
Funding
trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6MPathophysiology of Conduction Block in HNPP.R01NS066927 · NINDS · WAYNE STATE UNIVERSITY · PI LI, JUN · 2010 to 2019
$3.5MMedical Research Council G0601943Medical Research Council MR/N025431/1NINDS NIH HHS R01 NS066927NINDS NIH HHS U54 NS065712
Abstract
objectiveTo extend the phenotypic description of Charcot-Marie-Tooth disease (CMTX1) and to draw new genotype-phenotype relationships.
methodsMutations in
resultsWe evaluated 87 males who had a mean age of 41 years (range 10-78 years) and 73 females who had a mean age of 46 years (range 15-84 years). Sensory-motor polyneuropathy affects both sexes, more severely in males than in females, and there was a strong correlation between age and disease burden in males but not in females. Compared with females, males had more severe reduction in motor and sensory neurophysiology parameters. In contrast to females, the radial nerve sensory response in older males tended to be more severely affected compared with younger males. Median and ulnar nerve motor amplitudes were also more severely affected in older males, whereas ulnar nerve motor potentials tended to be more affected in older females. Conversely, there were no statistical differences between the sexes in other features of the disease, such as problems with balance and hand dexterity.
conclusionsIn the absence of a phenotypic correlation with specific CLINICALTRIALSGOV IDENTIFIER: NCT01193075.
Indexed as
AdolescentAdultAgedAged, 80 and overAmino Acid SequenceCharcot-Marie-Tooth DiseaseChildConnexinsCross-Sectional StudiesFamilyFemaleGap Junction beta-1 ProteinGenetic Association StudiesGenotyping TechniquesHumansMaleConnexinsGap Junction beta-1 Protein
Identifiers
What OpenQuestion holds
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Registered trials
NCT01193075ClinicalTrials.gov
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.