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A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.

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Title: A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
Authors: Cohen-Barak E; Department of Dermatology, Emek Medical Center, Afula, Israel erancb79@gmail.com.; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel., Danial-Farran N; Genetic Institute, Emek Medical Center, Afula, Israel., Chervinsky E; Genetic Institute, Emek Medical Center, Afula, Israel., Alimi-Kasem O; Genetic Institute, Emek Medical Center, Afula, Israel., Zagairy F; Department of Dermatology, Emek Medical Center, Afula, Israel., Livneh I; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel., Mawassi B; Department of Dermatology, Emek Medical Center, Afula, Israel., Hreish M; Department of Dermatology, Emek Medical Center, Afula, Israel., Khayat M; Genetic Institute, Emek Medical Center, Afula, Israel., Lossos A; Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Meiner V; Hadassah-Hebrew University Medical Center, Jerusalem, Israel., Ehilevitch N; Rambam Health Care Campus, Haifa, Israel., Weiss K; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Rambam Health Care Campus, Haifa, Israel., Shalev S; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Emek Medical Center, Pediatric Department A and Genetic Institute, Afula, Israel.
Source: Journal of medical genetics [J Med Genet] 2023 Mar; Vol. 60 (3), pp. 233-240. Date of Electronic Publication: 2022 Jun 16.
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 2985087R Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1468-6244 (Electronic) Linking ISSN: 00222593 NLM ISO Abbreviation: J Med Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: A homozygous variant in CHMP3 is associated with complex hereditary spastic paraplegia.
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  Data: <searchLink fieldCode="AU" term="%22Cohen-Barak+E%22">Cohen-Barak E</searchLink>; Department of Dermatology, Emek Medical Center, Afula, Israel erancb79@gmail.com.; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Danial-Farran+N%22">Danial-Farran N</searchLink>; Genetic Institute, Emek Medical Center, Afula, Israel.<br /><searchLink fieldCode="AU" term="%22Chervinsky+E%22">Chervinsky E</searchLink>; Genetic Institute, Emek Medical Center, Afula, Israel.<br /><searchLink fieldCode="AU" term="%22Alimi-Kasem+O%22">Alimi-Kasem O</searchLink>; Genetic Institute, Emek Medical Center, Afula, Israel.<br /><searchLink fieldCode="AU" term="%22Zagairy+F%22">Zagairy F</searchLink>; Department of Dermatology, Emek Medical Center, Afula, Israel.<br /><searchLink fieldCode="AU" term="%22Livneh+I%22">Livneh I</searchLink>; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Mawassi+B%22">Mawassi B</searchLink>; Department of Dermatology, Emek Medical Center, Afula, Israel.<br /><searchLink fieldCode="AU" term="%22Hreish+M%22">Hreish M</searchLink>; Department of Dermatology, Emek Medical Center, Afula, Israel.<br /><searchLink fieldCode="AU" term="%22Khayat+M%22">Khayat M</searchLink>; Genetic Institute, Emek Medical Center, Afula, Israel.<br /><searchLink fieldCode="AU" term="%22Lossos+A%22">Lossos A</searchLink>; Hadassah-Hebrew University Medical Center, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Meiner+V%22">Meiner V</searchLink>; Hadassah-Hebrew University Medical Center, Jerusalem, Israel.<br /><searchLink fieldCode="AU" term="%22Ehilevitch+N%22">Ehilevitch N</searchLink>; Rambam Health Care Campus, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Weiss+K%22">Weiss K</searchLink>; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Rambam Health Care Campus, Haifa, Israel.<br /><searchLink fieldCode="AU" term="%22Shalev+S%22">Shalev S</searchLink>; Technion Israel Institute of Technology, The Ruth and Bruce Rappaport Faculty of Medicine, Haifa, Israel.; Emek Medical Center, Pediatric Department A and Genetic Institute, Afula, Israel.
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  Data: <searchLink fieldCode="JN" term="%222985087R%22">Journal of medical genetics</searchLink> [J Med Genet] 2023 Mar; Vol. 60 (3), pp. 233-240. <i>Date of Electronic Publication: </i>2022 Jun 16.
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  Data: <i>Publisher: </i><searchLink fieldCode="PB" term="%22British+Medical+Association%22">British Medical Association </searchLink><i>Country of Publication: </i>England <i>NLM ID: </i>2985087R <i>Publication Model: </i>Print-Electronic <i>Cited Medium: </i>Internet <i>ISSN: </i>1468-6244 (Electronic) <i>Linking ISSN: </i><searchLink fieldCode="IS" term="%2200222593%22">00222593 </searchLink><i>NLM ISO Abbreviation: </i>J Med Genet <i>Subsets: </i>MEDLINE
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        Value: 10.1136/jmedgenet-2022-108508
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        Text: English
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              Text: 2023 Mar
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