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For: Maas RR, Iwanicka-Pronicka K, Kalkan Ucar S, Alhaddad B, AlSayed M, Al-Owain MA, Al-Zaidan HI, Balasubramaniam S, Barić I, Bubshait DK, Burlina A, Christodoulou J, Chung WK, Colombo R, Darin N, Freisinger P, Garcia Silva MT, Grunewald S, Haack TB, van Hasselt PM, Hikmat O, Hörster F, Isohanni P, Ramzan K, Kovacs-Nagy R, Krumina Z, Martin-Hernandez E, Mayr JA, McClean P, De Meirleir L, Naess K, Ngu LH, Pajdowska M, Rahman S, Riordan G, Riley L, Roeben B, Rutsch F, Santer R, Schiff M, Seders M, Sequeira S, Sperl W, Staufner C, Synofzik M, Taylor RW, Trubicka J, Tsiakas K, Unal O, Wassmer E, Wedatilake Y, Wolff T, Prokisch H, Morava E, Pronicka E, Wevers RA, de Brouwer AP, Wortmann SB. Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 cases. Ann Neurol 2017;82:1004-15. [PMID: 29205472 DOI: 10.1002/ana.25110] [Cited by in Crossref: 18] [Cited by in F6Publishing: 17] [Article Influence: 4.5] [Reference Citation Analysis]
Number Citing Articles
1 Iwanicka-pronicka K, Ciara E, Piekutowska-abramczuk D, Halat P, Pajdowska M, Pronicki M. Congenital cochlear deafness in mitochondrial diseases related to RRM2B and SERAC1 gene defects. A study of the mitochondrial patients of the CMHI hospital in Warsaw, Poland. International Journal of Pediatric Otorhinolaryngology 2019;121:143-9. [DOI: 10.1016/j.ijporl.2019.03.015] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 0.7] [Reference Citation Analysis]
2 Finsterer J, Scorza FA, Fiorini AC, Scorza CA. MEGDEL Syndrome. Pediatr Neurol 2020;110:25-9. [PMID: 32684373 DOI: 10.1016/j.pediatrneurol.2020.03.009] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 3.0] [Reference Citation Analysis]
3 Dard L, Blanchard W, Hubert C, Lacombe D, Rossignol R. Mitochondrial functions and rare diseases. Mol Aspects Med 2020;71:100842. [PMID: 32029308 DOI: 10.1016/j.mam.2019.100842] [Cited by in Crossref: 12] [Cited by in F6Publishing: 9] [Article Influence: 6.0] [Reference Citation Analysis]
4 Saudubray J, Mochel F. The phenotype of adult versus pediatric patients with inborn errors of metabolism. J Inherit Metab Dis 2018;41:753-6. [DOI: 10.1007/s10545-018-0209-9] [Cited by in Crossref: 10] [Cited by in F6Publishing: 10] [Article Influence: 2.5] [Reference Citation Analysis]
5 Fellman V, Banerjee R, Lin KL, Pulli I, Cooper H, Tyynismaa H, Kallijärvi J. Severe neonatal MEGDHEL syndrome with a homozygous truncating mutation in SERAC1. Biochim Biophys Acta Mol Basis Dis 2021;1868:166298. [PMID: 34751152 DOI: 10.1016/j.bbadis.2021.166298] [Reference Citation Analysis]
6 Saneto RP, Perez FA. Mitochondria-Associated Membrane Scaffolding with Endoplasmic Reticulum: A Dynamic Pathway of Developmental Disease. Front Mol Biosci 2022;9:908721. [DOI: 10.3389/fmolb.2022.908721] [Reference Citation Analysis]
7 Liu W, Johansson Å, Rask-Andersen H, Rask-Andersen M. A combined genome-wide association and molecular study of age-related hearing loss in H. sapiens. BMC Med 2021;19:302. [PMID: 34847940 DOI: 10.1186/s12916-021-02169-0] [Reference Citation Analysis]
8 Xiao C, Rossignol F, Vaz FM, Ferreira CR. Inherited disorders of complex lipid metabolism: A clinical review. J Inherit Metab Dis 2021;44:809-25. [PMID: 33594685 DOI: 10.1002/jimd.12369] [Cited by in Crossref: 2] [Cited by in F6Publishing: 3] [Article Influence: 2.0] [Reference Citation Analysis]
9 Flønes IH, Tzoulis C. Movement disorders in mitochondrial disease: a clinicopathological correlation. Current Opinion in Neurology 2018;31:472-83. [DOI: 10.1097/wco.0000000000000583] [Cited by in Crossref: 3] [Cited by in F6Publishing: 1] [Article Influence: 0.8] [Reference Citation Analysis]
10 Rahman S. Mitochondrial disease in children. J Intern Med 2020;287:609-33. [PMID: 32176382 DOI: 10.1111/joim.13054] [Cited by in Crossref: 15] [Cited by in F6Publishing: 15] [Article Influence: 7.5] [Reference Citation Analysis]
11 Snanoudj S, Mordel P, Dupas Q, Schanen C, Arion A, Gérard M, Read MH, Nait Rabah D, Goux D, Chapon F, Jokic M, Allouche S. Identification of a novel splice site mutation in the SERAC1 gene responsible for the MEGDHEL syndrome. Mol Genet Genomic Med 2019;7:e815. [PMID: 31251474 DOI: 10.1002/mgg3.815] [Cited by in F6Publishing: 1] [Reference Citation Analysis]
12 Alagoz M, Kherad N, Turkmen S, Bulut H, Yuksel A. A novel mutation in the SERAC1 gene correlates with the severe manifestation of the MEGDEL phenotype, as revealed by whole-exome sequencing. Exp Ther Med 2020;19:3505-12. [PMID: 32346411 DOI: 10.3892/etm.2020.8658] [Reference Citation Analysis]
13 Yan D, Chen S, Cai F, Shu J, Zhi X, Zheng J, Zhang C, Li D, Cai C. Complicated Hereditary Spastic Paraplegia Caused by SERAC1 Variants in a Chinese Family. Front Pediatr 2022;9:816265. [DOI: 10.3389/fped.2021.816265] [Reference Citation Analysis]
14 McCormick EM, Zolkipli-Cunningham Z, Falk MJ. Mitochondrial disease genetics update: recent insights into the molecular diagnosis and expanding phenotype of primary mitochondrial disease. Curr Opin Pediatr 2018;30:714-24. [PMID: 30199403 DOI: 10.1097/MOP.0000000000000686] [Cited by in Crossref: 23] [Cited by in F6Publishing: 13] [Article Influence: 7.7] [Reference Citation Analysis]
15 Sharma VD, Buetefisch CM, Kendall FD, Gross RE, DeLong MR, Juncos JL. Secondary Dystonia in a Novel Mitochondriopathy Responsive to Deep Brain Stimulation Therapy. Mov Disord Clin Pract 2021;8:135-8. [PMID: 33426169 DOI: 10.1002/mdc3.13075] [Reference Citation Analysis]
16 Giron C, Roze E, Degos B, Méneret A, Jardel C, Lannuzel A, Mochel F. Adult-onset Generalized Dystonia as the Main Manifestation of MEGDEL Syndrome. Tremor Other Hyperkinet Mov (N Y) 2018;8:554. [PMID: 29686941 DOI: 10.7916/D8VM5VBQ] [Reference Citation Analysis]
17 Ortigoza-Escobar JD. A Proposed Diagnostic Algorithm for Inborn Errors of Metabolism Presenting With Movements Disorders. Front Neurol 2020;11:582160. [PMID: 33281718 DOI: 10.3389/fneur.2020.582160] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
18 Lange LM, Gonzalez-Latapi P, Rajalingam R, Tijssen MAJ, Ebrahimi-Fakhari D, Gabbert C, Ganos C, Ghosh R, Kumar KR, Lang AE, Rossi M, van der Veen S, van de Warrenburg B, Warner T, Lohmann K, Klein C, Marras C; on behalf of the Task Force on Genetic Nomenclature in Movement Disorders. Nomenclature of Genetic Movement Disorders: Recommendations of the International Parkinson and Movement Disorder Society Task Force - An Update. Mov Disord 2022. [PMID: 35481685 DOI: 10.1002/mds.28982] [Reference Citation Analysis]
19 Meldau S, Owen EP, Khan K, Riordan GT. Mitochondrial molecular genetic results in a South African cohort: divergent mitochondrial and nuclear DNA findings. J Clin Pathol 2020:jclinpath-2020-207026. [PMID: 33115810 DOI: 10.1136/jclinpath-2020-207026] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
20 Alshammari SA, Alghamdi FA, Alhazmi R, Aldossary S. Incidental Finding of MEGDEL Syndrome Based on Neuroimaging: Case Report. Case Rep Neurol 2021;13:429-33. [PMID: 34326751 DOI: 10.1159/000516319] [Reference Citation Analysis]
21 Horvath B, Pfister KM, Rupp A, Kloesel B. MEGDEL Syndrome and Its Anesthetic Implications. Cureus 2021;13:e17761. [PMID: 34540505 DOI: 10.7759/cureus.17761] [Reference Citation Analysis]
22 Al Mutery A, Mahfood M, Chouchen J, Tlili A. Genetic etiology of hereditary hearing loss in the Gulf Cooperation Council countries. Hum Genet 2021. [PMID: 34338889 DOI: 10.1007/s00439-021-02323-x] [Reference Citation Analysis]
23 Lu G, Peng Q, Wu L, Zhang J, Ma L. Identification of de novo mutations for ARID1B haploinsufficiency associated with Coffin-Siris syndrome 1 in three Chinese families via array-CGH and whole exome sequencing. BMC Med Genomics 2021;14:270. [PMID: 34775996 DOI: 10.1186/s12920-021-01119-2] [Reference Citation Analysis]
24 Fang H, Xie A, Du M, Li X, Yang K, Fu Y, Yuan X, Fan R, Yu W, Zhou Z, Sang T, Nie K, Li J, Zhao Q, Chen Z, Yang Y, Hong C, Lyu J. SERAC1 is a component of the mitochondrial serine transporter complex required for the maintenance of mitochondrial DNA. Sci Transl Med 2022;14:eabl6992. [PMID: 35235340 DOI: 10.1126/scitranslmed.abl6992] [Reference Citation Analysis]
25 Trinh TT, Blasco H, Maillot F, Bakhos D. Hearing loss in inherited metabolic disorders: A systematic review. Metabolism 2021;122:154841. [PMID: 34333001 DOI: 10.1016/j.metabol.2021.154841] [Reference Citation Analysis]
26 Garone C, Minczuk M, Keshavan N, Rahman S. Natural history of mitochondrial disorders: a systematic review. Essays in Biochemistry 2018;62:423-42. [DOI: 10.1042/ebc20170108] [Cited by in Crossref: 15] [Cited by in F6Publishing: 7] [Article Influence: 3.8] [Reference Citation Analysis]