BPG is committed to discovery and dissemination of knowledge
Cited by in F6Publishing
For: Roeben B, Schüle R, Ruf S, Bender B, Alhaddad B, Benkert T, Meitinger T, Reich S, Böhringer J, Langhans C, Vaz FM, Wortmann SB, Marquardt T, Haack TB, Krägeloh-mann I, Schöls L, Synofzik M. SERAC1 deficiency causes complicated HSP: evidence from a novel splice mutation in a large family. J Med Genet 2017;55:39-47. [DOI: 10.1136/jmedgenet-2017-104622] [Cited by in Crossref: 12] [Cited by in F6Publishing: 8] [Article Influence: 2.4] [Reference Citation Analysis]
Number Citing Articles
1 Panwala TF, Garcia-santibanez R, Vizcarra JA, Garcia AG, Verma S. Childhood-onset Hereditary Spastic Paraplegia (HSP): A case series and review of literature. Pediatric Neurology 2022. [DOI: 10.1016/j.pediatrneurol.2022.02.007] [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 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]
4 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]
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 Gunay A, Shin HH, Gozutok O, Gautam M, Ozdinler PH. Importance of lipids for upper motor neuron health and disease. Semin Cell Dev Biol 2021;112:92-104. [PMID: 33323321 DOI: 10.1016/j.semcdb.2020.11.004] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.5] [Reference Citation Analysis]
7 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]
8 Darios F, Mochel F, Stevanin G. Lipids in the Physiopathology of Hereditary Spastic Paraplegias. Front Neurosci 2020;14:74. [PMID: 32180696 DOI: 10.3389/fnins.2020.00074] [Cited by in Crossref: 15] [Cited by in F6Publishing: 14] [Article Influence: 7.5] [Reference Citation Analysis]
9 Parodi L, Coarelli G, Stevanin G, Brice A, Durr A. Hereditary ataxias and paraparesias: clinical and genetic update. Current Opinion in Neurology 2018;31:462-71. [DOI: 10.1097/wco.0000000000000585] [Cited by in Crossref: 44] [Cited by in F6Publishing: 26] [Article Influence: 11.0] [Reference Citation Analysis]
10 Su Y, Zhang H, Wang H, Wu B, Yang J, Zhou W, Li L. Case Report: Progressive Cholestasis: Severe Phenotype of MEGDEL Syndrome With SATB2-Associated Syndrome. Front Pediatr 2021;9:713458. [PMID: 34660482 DOI: 10.3389/fped.2021.713458] [Reference Citation Analysis]
11 Sobrido MJ, Bauer P, de Koning T, Klopstock T, Nadjar Y, Patterson MC, Synofzik M, Hendriksz CJ. Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C? Orphanet J Rare Dis 2019;14:20. [PMID: 30665446 DOI: 10.1186/s13023-018-0985-1] [Cited by in Crossref: 10] [Cited by in F6Publishing: 5] [Article Influence: 3.3] [Reference Citation Analysis]
12 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]
13 De Winter J, Beijer D, De Ridder W, Synofzik M, Zuchner SL, Van Damme P, Spileers W, Baets J; PREPARE consortium. PCYT2 mutations disrupting etherlipid biosynthesis: phenotypes converging on the CDP-ethanolamine pathway. Brain 2021;144:e17. [PMID: 33230519 DOI: 10.1093/brain/awaa389] [Reference Citation Analysis]
14 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]