{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,5,7]],"date-time":"2026-05-07T15:22:47Z","timestamp":1778167367501,"version":"3.51.4"},"reference-count":15,"publisher":"Springer Science and Business Media LLC","issue":"2","license":[{"start":{"date-parts":[[2022,1,18]],"date-time":"2022-01-18T00:00:00Z","timestamp":1642464000000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"},{"start":{"date-parts":[[2022,1,18]],"date-time":"2022-01-18T00:00:00Z","timestamp":1642464000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.springer.com\/tdm"}],"content-domain":{"domain":["link.springer.com"],"crossmark-restriction":false},"short-container-title":["Neurogenetics"],"published-print":{"date-parts":[[2022,4]]},"DOI":"10.1007\/s10048-022-00685-6","type":"journal-article","created":{"date-parts":[[2022,1,18]],"date-time":"2022-01-18T16:06:25Z","timestamp":1642521985000},"page":"85-90","update-policy":"https:\/\/doi.org\/10.1007\/springer_crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["A novel homozygous variant in RNF170 causes hereditary spastic paraplegia: a case report and review of the literature"],"prefix":"10.1007","volume":"23","author":[{"given":"Eliane","family":"Chouery","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Cybel","family":"Mehawej","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0714-2469","authenticated-orcid":false,"given":"Andre","family":"Megarbane","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"297","published-online":{"date-parts":[[2022,1,18]]},"reference":[{"key":"685_CR1","doi-asserted-by":"publisher","first-page":"2864","DOI":"10.1093\/brain\/awaa278","volume":"143","author":"TT Warner","year":"2020","unstructured":"Warner TT (2020) Clinical and pathogenic themes in hereditary spastic paraplegia. Brain 143:2864\u20132866. https:\/\/doi.org\/10.1093\/brain\/awaa278","journal-title":"Brain"},{"key":"685_CR2","doi-asserted-by":"publisher","first-page":"18","DOI":"10.1016\/j.yexcr.2014.02.021","volume":"325","author":"A Noreau","year":"2014","unstructured":"Noreau A, Dion PA, Rouleau GA (2014) Molecular aspects of hereditary spastic paraplegia. Exp Cell Res 325:18\u201326. https:\/\/doi.org\/10.1016\/j.yexcr.2014.02.021","journal-title":"Exp Cell Res"},{"key":"685_CR3","doi-asserted-by":"publisher","first-page":"690899","DOI":"10.3389\/fmolb.2021.690899","volume":"8","author":"LEO Elsayed","year":"2021","unstructured":"Elsayed LEO, Eltazi IZ, Ahmed AE, Stevanin G (2021) Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview. Front Mol Biosci 8:690899. https:\/\/doi.org\/10.3389\/fmolb.2021.690899","journal-title":"Front Mol Biosci"},{"key":"685_CR4","doi-asserted-by":"publisher","first-page":"102484","DOI":"10.1016\/j.isci.2021.102484","volume":"24","author":"N Vavouraki","year":"2021","unstructured":"Vavouraki N, Tomkins JE, Kara E et al (2021) Integrating protein networks and machine learning for disease stratification in the Hereditary Spastic Paraplegias. IScience 24:102484. https:\/\/doi.org\/10.1016\/j.isci.2021.102484","journal-title":"IScience"},{"key":"685_CR5","doi-asserted-by":"publisher","DOI":"10.3238\/arztebl.2018.0091","author":"K Eggermann","year":"2018","unstructured":"Eggermann K, Gess B, H\u00e4usler M et al (2018) Hereditary Neuropathies. Dtsch Aerzteblatt Online. https:\/\/doi.org\/10.3238\/arztebl.2018.0091","journal-title":"Dtsch Aerzteblatt Online"},{"key":"685_CR6","doi-asserted-by":"publisher","first-page":"1215","DOI":"10.1093\/nar\/16.3.1215","volume":"16","author":"SA Miller","year":"1988","unstructured":"Miller SA, Dykes DD, Polesky HF (1988) A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215\u20131215. https:\/\/doi.org\/10.1093\/nar\/16.3.1215","journal-title":"Nucleic Acids Res"},{"key":"685_CR7","doi-asserted-by":"publisher","first-page":"1754","DOI":"10.1093\/bioinformatics\/btp324","volume":"25","author":"H Li","year":"2009","unstructured":"Li H, Durbin R (2009) Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinforma Oxf Engl 25:1754\u20131760. https:\/\/doi.org\/10.1093\/bioinformatics\/btp324","journal-title":"Bioinforma Oxf Engl"},{"key":"685_CR8","doi-asserted-by":"publisher","first-page":"1297","DOI":"10.1101\/gr.107524.110","volume":"20","author":"A McKenna","year":"2010","unstructured":"McKenna A, Hanna M, Banks E et al (2010) The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res 20:1297\u20131303. https:\/\/doi.org\/10.1101\/gr.107524.110","journal-title":"Genome Res"},{"key":"685_CR9","doi-asserted-by":"publisher","first-page":"1978","DOI":"10.1093\/bioinformatics\/bty897","volume":"35","author":"C Kopanos","year":"2019","unstructured":"Kopanos C, Tsiolkas V, Kouris A et al (2019) VarSome: the human genomic variant search engine. Bioinformatics 35:1978\u20131980. https:\/\/doi.org\/10.1093\/bioinformatics\/bty897","journal-title":"Bioinformatics"},{"key":"685_CR10","doi-asserted-by":"publisher","first-page":"405","DOI":"10.1038\/gim.2015.30","volume":"17","author":"S Richards","year":"2015","unstructured":"Richards S, Aziz N, Bale S et al (2015) Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med 17:405\u2013424. https:\/\/doi.org\/10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"685_CR11","doi-asserted-by":"publisher","first-page":"24426","DOI":"10.1074\/jbc.M111.251983","volume":"286","author":"JP Lu","year":"2011","unstructured":"Lu JP, Wang Y, Sliter DA et al (2011) RNF170 Protein, an Endoplasmic Reticulum Membrane Ubiquitin Ligase, Mediates Inositol 1,4,5-Trisphosphate Receptor Ubiquitination and Degradation. J Biol Chem 286:24426\u201324433. https:\/\/doi.org\/10.1074\/jbc.M111.251983","journal-title":"J Biol Chem"},{"key":"685_CR12","doi-asserted-by":"publisher","first-page":"4790","DOI":"10.1038\/s41467-019-12620-9","volume":"10","author":"M Wagner","year":"2019","unstructured":"Wagner M, Osborn DPS, Gehweiler I et al (2019) Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia. Nat Commun 10:4790. https:\/\/doi.org\/10.1038\/s41467-019-12620-9","journal-title":"Nat Commun"},{"key":"685_CR13","doi-asserted-by":"publisher","first-page":"602","DOI":"10.1093\/brain\/awq329","volume":"134","author":"PN Valdmanis","year":"2011","unstructured":"Valdmanis PN, Dupr\u00e9 N, Lachance M et al (2011) A mutation in the RNF170 gene causes autosomal dominant sensory ataxia. Brain 134:602\u2013607. https:\/\/doi.org\/10.1093\/brain\/awq329","journal-title":"Brain"},{"key":"685_CR14","doi-asserted-by":"publisher","first-page":"7196","DOI":"10.1093\/hmg\/ddv417","volume":"24","author":"Y Kim","year":"2015","unstructured":"Kim Y, Kim SH, Kim KH et al (2015) Age-dependent gait abnormalities in mice lacking the Rnf170 gene linked to human autosomal-dominant sensory ataxia. Hum Mol Genet 24:7196\u20137206. https:\/\/doi.org\/10.1093\/hmg\/ddv417","journal-title":"Hum Mol Genet"},{"key":"685_CR15","doi-asserted-by":"publisher","first-page":"771","DOI":"10.1002\/mds.28371","volume":"36","author":"J-M de Sainte Agathe","year":"2021","unstructured":"de Sainte Agathe J-M, Mercier S, Mah\u00e9 J-Y et al (2021) RNF170-Related Hereditary Spastic Paraplegia: Confirmation by a Novel Mutation. Mov Disord Off J Mov Disord Soc 36:771\u2013774. https:\/\/doi.org\/10.1002\/mds.28371","journal-title":"Mov Disord Off J Mov Disord Soc"}],"container-title":["neurogenetics"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-022-00685-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/article\/10.1007\/s10048-022-00685-6\/fulltext.html","content-type":"text\/html","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/link.springer.com\/content\/pdf\/10.1007\/s10048-022-00685-6.pdf","content-type":"application\/pdf","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,3,28]],"date-time":"2022-03-28T14:08:37Z","timestamp":1648476517000},"score":1,"resource":{"primary":{"URL":"https:\/\/link.springer.com\/10.1007\/s10048-022-00685-6"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2022,1,18]]},"references-count":15,"journal-issue":{"issue":"2","published-print":{"date-parts":[[2022,4]]}},"alternative-id":["685"],"URL":"https:\/\/doi.org\/10.1007\/s10048-022-00685-6","relation":{},"ISSN":["1364-6753"],"issn-type":[{"value":"1364-6753","type":"electronic"}],"subject":[],"published":{"date-parts":[[2022,1,18]]},"assertion":[{"value":"17 December 2021","order":1,"name":"received","label":"Received","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"12 January 2022","order":2,"name":"accepted","label":"Accepted","group":{"name":"ArticleHistory","label":"Article History"}},{"value":"18 January 2022","order":3,"name":"first_online","label":"First Online","group":{"name":"ArticleHistory","label":"Article History"}},{"order":1,"name":"Ethics","group":{"name":"EthicsHeading","label":"Declarations"}},{"value":"Approval to conduct the study was obtained from the Institutional Review Board of the Lebanese American University, Beirut, Lebanon. Parents signed an informed consent for participation and sample collection.","order":2,"name":"Ethics","group":{"name":"EthicsHeading","label":"Ethics approval and consents"}},{"value":"Parents signed an informed consent for data publication.","order":3,"name":"Ethics","group":{"name":"EthicsHeading","label":"Consent for publication"}},{"value":"The authors declare no competing interests.","order":4,"name":"Ethics","group":{"name":"EthicsHeading","label":"Competing interests"}}]}}