ReviewNeuromolecular medicine2006
Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.
Review in Neuromolecular medicine, 2006. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 28 papers.
What it found
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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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
28 citing papers in PubMed, 77 citations in OpenAlex.
- A novelFrontiers in neurology · 2024Article
- MFN2-related Charcot-Marie-Tooth Disease with Atypical Ocular Manifestations.Internal medicine (Tokyo, Japan) · 2021Article
- Mitochondrial function in development and disease.Disease models & mechanisms · 2021Review
- The ubiquitous role of mitochondria in Parkinson and other neurodegenerative diseases.AIMS neuroscience · 2020Review
- MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics.Human molecular genetics · 2019Article
- Altered interplay between endoplasmic reticulum and mitochondria in Charcot-Marie-Tooth type 2A neuropathy.Proceedings of the National Academy of Sciences of the United States of America · 2019Article
- Mitofusin 2: from functions to disease.Cell death & disease · 2018Review
- Extracellular Release and Signaling by Heat Shock Protein 27: Role in Modifying Vascular Inflammation.Frontiers in immunology · 2016Review
- Rab family of GTPases.Methods in molecular biology (Clifton, N.J.) · 2015Review
- Advances in imaging ultrastructure yield new insights into presynaptic biology.Frontiers in cellular neuroscience · 2015Review
- Exome sequencing reveals HINT1 mutations as a cause of distal hereditary motor neuropathy.European journal of human genetics : EJHG · 2014Article
- The Gdap1 knockout mouse mechanistically links redox control to Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2014Article
- A review of genetic counseling for Charcot Marie Tooth disease (CMT).Journal of genetic counseling · 2013Review
- Clinical and histopathological study of Charcot-Marie-Tooth neuropathy with a novel S90W mutation in BSCL2.Neurogenetics · 2013Article
- A nonsense mutation in DHTKD1 causes Charcot-Marie-Tooth disease type 2 in a large Chinese pedigree.American journal of human genetics · 2012Article
- Charcot-Marie-Tooth disease and intracellular traffic.Progress in neurobiology · 2012Review
- Rab GTPases, membrane trafficking and diseases.Current drug targets · 2011Review
- Mutation screening of mitofusin 2 in Charcot-Marie-Tooth disease type 2.Journal of neurology · 2011Article
- Article
- Exome sequencing allows for rapid gene identification in a Charcot-Marie-Tooth family.Annals of neurology · 2011Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
2 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The autosomal-dominant axonal peripheral neuropathies comprise a genetically heterogeneous group of disorders that are clinically subsumed under Charcot-Marie-Tooth disease type 2 (CMT2). A significant increase in the number of genes underlying major forms of CMT2 has improved the classification of specific CMT phenotypes. The molecular dissection of cellular functions of the related gene products has only begun and detailed pathophysiological models are still missing, but already the biological scope of genes linked to CMT2 is more diversified than CMT1. The known CMT2 genes present key players in these pathways and will likely prove as powerful tools in identifying eventual future targets for therapeutic intervention.
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Registered trials
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.