ArticleCells2020
Charcot-Marie-Tooth Type 2B: A New Phenotype Associated with a Novel
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Article in Cells, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
2.1field-weighted citation impact, top 14% of its field
What it found
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Who cites it
18 citing papers in PubMed, 32 citations in OpenAlex.
- Peripherin, A New Promising Biomarker in Neurological Disorders.The European journal of neuroscience · 2025Review
- From Cell Architecture to Mitochondrial Signaling: Role of Intermediate Filaments in Health, Aging, and Disease.International journal of molecular sciences · 2025Review
- Defects of mitochondria-lysosomes communication induce secretion of mitochondria-derived vesicles and drive chemoresistance in ovarian cancer cells.Cell communication and signaling : CCS · 2024Article
- Revisiting the Mitochondrial Function and Communication in Neurodegenerative Diseases.Current pharmaceutical design · 2024Review
- Misregulation of mitochondria-lysosome contact dynamics in Charcot-Marie-Tooth Type 2B disease Rab7 mutant sensory peripheral neurons.Proceedings of the National Academy of Sciences of the United States of America · 2023Article
- Regulation of Endosomal Trafficking by Rab7 and Its Effectors in Neurons: Clues from Charcot-Marie-Tooth 2B Disease.Biomolecules · 2023Review
- Interstitial Deletion of 3q21 in a Kuwaiti Child with Multiple Congenital Anomalies-Expanding the Phenotype.Genes · 2023Article
- Targeting small GTPases: emerging grasps on previously untamable targets, pioneered by KRAS.Signal transduction and targeted therapy · 2023Review
- Crosstalk between the Rho and Rab family of small GTPases in neurodegenerative disorders.Frontiers in cellular neuroscience · 2023Review
- Neurotrophic Factors in Health and Disease.Cells · 2022Article
- Role of the Intermediate Filament Protein Peripherin in Health and Disease.International journal of molecular sciences · 2022Review
- Mitochondria dysfunction in Charcot Marie Tooth 2B Peripheral Sensory Neuropathy.Communications biology · 2022Article
- Membrane Targeting and GTPase Activity of Rab7 Are Required for Its Ubiquitination by RNF167.International journal of molecular sciences · 2022Article
- Article
- The Future of Genetic Disease Studies: Assembling an Updated Multidisciplinary Toolbox.Frontiers in cell and developmental biology · 2022Article
- IL-6 signaling pathway contributes to exercise pressor reflex in rats with femoral artery occlusion in association with Kv4 activity in muscle afferent nerves.Physiological reports · 2021Article
- Held Up in Traffic-Defects in the Trafficking Machinery in Charcot-Marie-Tooth Disease.Frontiers in molecular neuroscience · 2021Review
- Role of EGFR in the Nervous System.Cells · 2020Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
18 authors at 7 institutions in 2 countries.
Paola SaveriDepartment of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Maria De LucaDepartment of Biological and Environmental Sciences and Technologies, University of Salento, 73100 Lecce, Italy.ORCID 0000-0003-2329-776X
Veronica NisiDepartment of Biological and Environmental Sciences and Technologies, University of Salento, 73100 Lecce, Italy.
Chiara PisciottaDepartment of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Roberta RomanoDepartment of Biological and Environmental Sciences and Technologies, University of Salento, 73100 Lecce, Italy.ORCID 0000-0002-4987-3561
Giuseppe PiscosquitoFunctional Neuromotor Rehabilitation Unit, IRCCS ICS Maugeri Spa-SB, Scientific Institute of Telese Terme, 82037 Telese Terme (Benevento), Italy.
Mary M ReillyMRC Centre for Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London WC1N 3BG, UK.
James M PolkeDepartment of Neurogenetics, The National Hospital for Neurology and Neurosurgery, UCL Institute of Neurology, London WC1N 3BG, UK.
Tiziana CavallaroDepartment of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Gian Maria FabriziDepartment of Neurosciences, Biomedicine and Movement Sciences, University of Verona, 37134 Verona, Italy.
Paola FossaDepartment of Pharmacy, School of Medical and Pharmaceutical Sciences, University of Genova, 16132 Genova, Italy.ORCID 0000-0001-9386-0445
Elena CicheroDepartment of Pharmacy, School of Medical and Pharmaceutical Sciences, University of Genova, 16132 Genova, Italy.
Raffaella LombardiDepartment of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Giuseppe LauriaDepartment of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Stefania MagriUnit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-9610-7544
Franco TaroniUnit of Medical Genetics and Neurogenetics, Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.ORCID 0000-0002-2420-5233
Davide PareysonDepartment of Clinical Neurosciences, Fondazione IRCCS Istituto Neurologico Carlo Besta, 20133 Milan, Italy.
Cecilia BucciDepartment of Biological and Environmental Sciences and Technologies, University of Salento, 73100 Lecce, Italy.ORCID 0000-0002-6232-6183
Fondazione IRCCS Istituto Neurologico Carlo Besta · ITUniversity of Salento · ITNational Hospital for Neurology and Neurosurgery · GBUniversity of Genoa · ITUniversity of Verona · ITIstituti Clinici Scientifici Maugeri · ITUniversity of Milan · IT
Funding
trainingU54NS065712 · NINDS · WAYNE STATE UNIVERSITY · PI SHY, MICHAEL E. · 2009 to 2023
$19.6MNINDS NIH HHS U54 NS065712
Abstract
The rare autosomal dominant Charcot-Marie-Tooth type 2B (CMT2B) is associated with mutations in the
Indexed as
ProteolysisAdaptor Proteins, Signal TransducingAdolescentAdultAnimalsBase SequenceBiopsyCell LineCharcot-Marie-Tooth DiseaseErbB ReceptorsFemaleFibroblastsHumansLaminopathiesLigandsMaleAdaptor Proteins, Signal TransducingEGFR protein, humanErbB ReceptorsLigandsMutant ProteinsPeripherinsPRPH protein, humanrab7 GTP-Binding Proteinsrab7 GTP-binding proteins, humanrab7 GTP-binding proteins, mouserab GTP-Binding ProteinsRILP protein, humanautophagyaxonsCharcot–Marie–Tooth disease type 2BCMT2BEGFRendocytosislysosomesmutationsneurite outgrowthNGFperipheral sensory neuropathyRAB7RAB7A
Identifiers
What OpenQuestion holds
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LicenceCC BY
Read underepoch 390
Registered trials
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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.