Cited by 1,572Hereditary Neurological DisordersMitochondrial Function and PathologyPeripheral Neuropathies and Disorders

Mutations in the mitochondrial GTPase mitofusin 2 cause Charcot-Marie-Tooth neuropathy type 2A

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Züchner, Stephan, Mersiyanova, Irina V, Muglia, Maria, Bissar-Tadmouri, Nisrine, Rochelle, Julie, Dadali, Elena L, Zappia, Mario, Nelis, Eva +14 more·2004·Nature Genetics

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Crossref · 10.1038/ng1341

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15 of 15 references verified0 citation errors · 0 not checkable

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Authors
Züchner, S., Mersiyanova, I. V., Muglia, M., Bissar-Tadmouri, N., Rochelle, J., Dadali, E. L., Zappia, M., Nelis, E., Patitucci, A., Senderek, J., Parman, Y., Evgrafov, O., Jonghe, P. D., Takahashi, Y., Tsuji, S., Pericak-Vance, M. A., Quattrone, A., Battologlu, E., Polyakov, A. V., Timmerman, V., Schröder, J. M., & Vance, J. M.
Affiliations
  • Research Centre for Medical Genetics (RU)
  • Institute of Neurological Sciences (IT)
  • Duke Medical Center (US)
  • Magna Graecia University (IT)
  • University of Antwerp (BE)
  • Universitätsklinikum Aachen (DE)
  • The University of Tokyo (JP)
  • Boğaziçi University (TR)
Corresponding author
Vance, Jeffery M
Venue
Nature Genetics
Published
2004-04-04
Volume
36
Issue
5
Pages
449-451
ISSN
  • 1061-4036 (ISSN-L)
  • 1546-1718
OpenAlex
W2127271204
Cited by
1,572
References
15
Citations by year
2026: 45 · 2025: 34 · 2024: 45 · 2023: 51 · 2022: 59 · 2021: 80 · 2020: 71 · 2019: 96 · 2018: 84 · 2017: 73 · 2016: 80 · 2015: 76 · 2014: 87 · 2013: 98 · 2012: 126
FWCI
17.88
Type
journal article
Language
en
Locations
  • Nature Genetics (publishedVersion)
  • PubMed (publishedVersion)
  • RWTH Publications (RWTH Aachen) (submittedVersion)
  • INFM-OAR (INFN Catania) (submittedVersion, other-oa)
Funders
Wellcome Trust
Topics
  • Life Sciences › Neuroscience › Cellular and Molecular Neuroscience › Hereditary Neurological Disorders
  • Life Sciences › Biochemistry, Genetics and Molecular Biology › Molecular Biology › Mitochondrial Function and Pathology
  • Health Sciences › Medicine › Neurology › Peripheral Neuropathies and Disorders
Keywords
mitofusin 2, missense mutations, mitochondrial fusion, KIF1B, hereditary neuropathy, pedigree
MeSH terms
Adolescent, Adult, Charcot-Marie-Tooth Disease, Child, Child, Preschool, Chromosomes, Human, Pair 1, Exons, Female, Humans, Introns, Lod Score, Male, Membrane Proteins, Middle Aged, Mitochondria, Nerve Tissue Proteins, Pedigree, Kinesins, Mutation, Missense, GTP Phosphohydrolases, Mitochondrial Proteins

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