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For: Frasquet M, Lupo V, Chumillas MJ, Vázquez-Costa JF, Espinós C, Sevilla T. Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene. J Neurol Sci 2018;387:134-8. [PMID: 29571850 DOI: 10.1016/j.jns.2018.02.021] [Cited by in Crossref: 9] [Cited by in F6Publishing: 7] [Article Influence: 2.3] [Reference Citation Analysis]
Number Citing Articles
1 Li T, Feng Y, Liu Y, He C, Liu J, Chen H, Deng Y, Li M, Li W, Song J, Niu Z, Sang S, Wen J, Men M, Chen X, Li J, Liu X, Ling J. A novel ABHD12 nonsense variant in Usher syndrome type 3 family with genotype-phenotype spectrum review. Gene 2019;704:113-20. [PMID: 30974196 DOI: 10.1016/j.gene.2019.04.008] [Cited by in Crossref: 5] [Cited by in F6Publishing: 6] [Article Influence: 1.7] [Reference Citation Analysis]
2 Ambrosio L, Hansen RM, Moskowitz A, Oza A, Barrett D, Manganella J, Medina G, Kawai K, Fulton AB, Kenna M. Dark-adapted threshold and electroretinogram for diagnosis of Usher syndrome. Doc Ophthalmol 2021;143:39-51. [PMID: 33511521 DOI: 10.1007/s10633-021-09818-y] [Reference Citation Analysis]
3 Thimm A, Rahal A, Schoen U, Abicht A, Klebe S, Kleinschnitz C, Hagenacker T, Stettner M. Genotype‐phenotype correlation in a novel ABHD12 mutation underlying PHARC syndrome. J Peripher Nerv Syst 2020;25:112-6. [DOI: 10.1111/jns.12367] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
4 Dias Bastos PA, Mendonça M, Lampreia T, Magriço M, Oliveira J, Barbosa R. PHARC Syndrome, a Rare Genetic Disorder-Case Report. Mov Disord Clin Pract 2021;8:977-9. [PMID: 34405110 DOI: 10.1002/mdc3.13266] [Reference Citation Analysis]
5 Singh S, Joshi A, Kamat SS. Mapping the Neuroanatomy of ABHD16A, ABHD12, and Lysophosphatidylserines Provides New Insights into the Pathophysiology of the Human Neurological Disorder PHARC. Biochemistry 2020;59:2299-311. [PMID: 32462874 DOI: 10.1021/acs.biochem.0c00349] [Cited by in Crossref: 8] [Cited by in F6Publishing: 8] [Article Influence: 4.0] [Reference Citation Analysis]
6 Nguyen XT, Almushattat H, Strubbe I, Georgiou M, Li CHZ, van Schooneveld MJ, Joniau I, De Baere E, Florijn RJ, Bergen AA, Hoyng CB, Michaelides M, Leroy BP, Boon CJF. The Phenotypic Spectrum of Patients with PHARC Syndrome Due to Variants in ABHD12: An Ophthalmic Perspective. Genes (Basel) 2021;12:1404. [PMID: 34573385 DOI: 10.3390/genes12091404] [Cited by in Crossref: 1] [Article Influence: 1.0] [Reference Citation Analysis]
7 Medina G, Perry J, Oza A, Kenna M. Hiding in plain sight: genetic deaf-blindness is not always Usher syndrome. Cold Spring Harb Mol Case Stud 2021;7:a006088. [PMID: 34021019 DOI: 10.1101/mcs.a006088] [Reference Citation Analysis]
8 Nolen RM, Hufnagel RB, Friedman TB, Turriff AE, Brewer CC, Zalewski CK, King KA, Wafa TT, Griffith AJ, Brooks BP, Zein WM. Atypical and ultra-rare Usher syndrome: a review. Ophthalmic Genet 2020;41:401-12. [PMID: 32372680 DOI: 10.1080/13816810.2020.1747090] [Cited by in Crossref: 5] [Cited by in F6Publishing: 5] [Article Influence: 2.5] [Reference Citation Analysis]