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For: Tarnutzer AA, Gerth-Kahlert C, Timmann D, Chang DI, Harmuth F, Bauer P, Straumann D, Synofzik M. Boucher-Neuhäuser syndrome: cerebellar degeneration, chorioretinal dystrophy and hypogonadotropic hypogonadism: two novel cases and a review of 40 cases from the literature. J Neurol 2015;262:194-202. [PMID: 25359264 DOI: 10.1007/s00415-014-7555-9] [Cited by in Crossref: 23] [Cited by in F6Publishing: 17] [Article Influence: 2.9] [Reference Citation Analysis]
Number Citing Articles
1 Manto M, Hampe CS. Endocrine disorders and the cerebellum: from neurodevelopmental injury to late-onset ataxia. Handb Clin Neurol 2018;155:353-68. [PMID: 29891071 DOI: 10.1016/B978-0-444-64189-2.00023-8] [Cited by in Crossref: 4] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
2 Zheng R, Zhao Y, Wu J, Wang Y, Liu JL, Zhou ZL, Zhou XT, Chen DN, Liao WH, Li JD. A novel PNPLA6 compound heterozygous mutation identified in a Chinese patient with Boucher‑Neuhäuser syndrome. Mol Med Rep 2018;18:261-7. [PMID: 29749493 DOI: 10.3892/mmr.2018.8955] [Cited by in Crossref: 3] [Cited by in F6Publishing: 3] [Article Influence: 0.8] [Reference Citation Analysis]
3 O’neil E, Serrano L, Scoles D, Cunningham KE, Han G, Chiang J, Bennett J, Aleman TS. Detailed retinal phenotype of Boucher-Neuhäuser syndrome associated with mutations in PNPLA6 mimicking choroideremia. Ophthalmic Genetics 2019;40:267-75. [DOI: 10.1080/13816810.2019.1605392] [Cited by in Crossref: 6] [Cited by in F6Publishing: 5] [Article Influence: 2.0] [Reference Citation Analysis]
4 Merolla S, Borella M, Bassi F, Canonico F, Santilli IM, Grassi MP. Neuropsychological assessment of Boucher-Neuhäuser syndrome: a case report. Clin Neuropsychol 2021;:1-9. [PMID: 34459356 DOI: 10.1080/13854046.2021.1965219] [Reference Citation Analysis]
5 Sen K, Finau M, Ghosh P. Bi-allelic variants in PNPLA6 possibly associated with Parkinsonian features in addition to spastic paraplegia phenotype. J Neurol 2020;267:2749-53. [PMID: 32623594 DOI: 10.1007/s00415-020-10028-w] [Cited by in Crossref: 1] [Article Influence: 0.5] [Reference Citation Analysis]
6 Teive HAG, Camargo CHF, Sato MT, Shiokawa N, Boguszewski CL, Raskin S, Buck C, Seminara SB, Munhoz RP. Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias. Cerebellum 2018;17:380-5. [PMID: 29248984 DOI: 10.1007/s12311-017-0909-y] [Cited by in Crossref: 11] [Cited by in F6Publishing: 8] [Article Influence: 3.7] [Reference Citation Analysis]
7 Patsi O, De Beaufort C, Kerschen P, Cardillo S, Soehn A, Rautenberg M, Diederich N. A new PNPLA6 mutation presenting as Oliver McFarlane syndrome. Journal of the Neurological Sciences 2018;392:1-2. [DOI: 10.1016/j.jns.2018.06.016] [Cited by in Crossref: 6] [Cited by in F6Publishing: 6] [Article Influence: 1.5] [Reference Citation Analysis]
8 Donaldson L, Tarnopolsky MA, Martin JA, Rodriguez AR. Severe chorioretinal atrophy in Boucher-Neuhauser syndrome. Canadian Journal of Ophthalmology 2020;55:e26-8. [DOI: 10.1016/j.jcjo.2019.07.001] [Cited by in Crossref: 2] [Cited by in F6Publishing: 2] [Article Influence: 1.0] [Reference Citation Analysis]
9 Salgado P, Carvalho R, Brandão AF, Jorge P, Ramos C, Dias D, Alonso I, Magalhães M. Gordon Holmes syndrome due to compound heterozygosity of two new PNPLA6 variants - A diagnostic challenge. eNeurologicalSci 2019;14:9-12. [PMID: 30555943 DOI: 10.1016/j.ensci.2018.11.022] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 0.8] [Reference Citation Analysis]
10 Melentev PA, Sharapenkov EG, Surina NV, Ivanova EA, Ryabova EV, Sarantseva SV. Drosophila Lysophospholipase Gene swiss cheese Is Required for Survival and Reproduction. Insects 2022;13:14. [DOI: 10.3390/insects13010014] [Reference Citation Analysis]
11 DeNaro BB, Dhrami-Gavazi E, Rubaltelli DM, Freund KB, Lee W, Yannuzzi LA, Tsang SH, Kang JJ. CHORIORETINAL CHANGES IN A GENETICALLY CONFIRMED CASE OF BOUCHER-NEUHÄUSER SYNDROME. Retin Cases Brief Rep 2021;15:179-84. [PMID: 30015775 DOI: 10.1097/ICB.0000000000000769] [Cited by in Crossref: 4] [Cited by in F6Publishing: 1] [Article Influence: 4.0] [Reference Citation Analysis]
12 Wiethoff S, Bettencourt C, Paudel R, Madon P, Liu YT, Hersheson J, Wadia N, Desai J, Houlden H. Pure Cerebellar Ataxia with Homozygous Mutations in the PNPLA6 Gene. Cerebellum 2017;16:262-7. [PMID: 26995604 DOI: 10.1007/s12311-016-0769-x] [Cited by in Crossref: 17] [Cited by in F6Publishing: 17] [Article Influence: 3.4] [Reference Citation Analysis]
13 Doğan M, Eröz R, Öztürk E. Chorioretinal dystrophy, hypogonadotropic hypogonadism, and cerebellar ataxia: Boucher-Neuhauser syndrome due to a homozygous (c.3524C>G (p.Ser1175Cys)) variant in PNPLA6 gene. Ophthalmic Genet 2021;42:276-82. [PMID: 33650466 DOI: 10.1080/13816810.2021.1894461] [Reference Citation Analysis]
14 Brauner R, Bignon-Topalovic J, Bashamboo A, McElreavey K. Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism. Front Pediatr 2021;9:641397. [PMID: 34055685 DOI: 10.3389/fped.2021.641397] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
15 Emekli AS, Samanci B, Şimşir G, Hanagasi HA, Gürvit H, Bilgiç B, Başak AN. A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia. Neurol Sci 2021;42:1535-9. [PMID: 33210227 DOI: 10.1007/s10072-020-04869-6] [Cited by in Crossref: 2] [Cited by in F6Publishing: 1] [Article Influence: 1.0] [Reference Citation Analysis]
16 Kretzschmar D. PNPLA6/NTE, an Evolutionary Conserved Phospholipase Linked to a Group of Complex Human Diseases. Metabolites 2022;12:284. [DOI: 10.3390/metabo12040284] [Reference Citation Analysis]
17 Koh K, Kobayashi F, Miwa M, Shindo K, Isozaki E, Ishiura H, Tsuji S, Takiyama Y. Novel mutations in the PNPLA6 gene in Boucher-Neuhäuser syndrome. J Hum Genet 2015;60:217-20. [PMID: 25631098 DOI: 10.1038/jhg.2015.3] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 1.4] [Reference Citation Analysis]
18 Teive HA, Ashizawa T. Primary and secondary ataxias. Curr Opin Neurol 2015;28:413-22. [PMID: 26132530 DOI: 10.1097/WCO.0000000000000227] [Cited by in Crossref: 40] [Cited by in F6Publishing: 17] [Article Influence: 6.7] [Reference Citation Analysis]
19 Wu S, Sun Z, Zhu T, Weleber RG, Yang P, Wei X, Pennesi ME, Sui R. Novel variants in PNPLA6 causing syndromic retinal dystrophy. Exp Eye Res 2021;202:108327. [PMID: 33141049 DOI: 10.1016/j.exer.2020.108327] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]