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For: Lerat J, Cintas P, Beauvais-Dzugan H, Magdelaine C, Sturtz F, Lia AS. A complex homozygous mutation in ABHD12 responsible for PHARC syndrome discovered with NGS and review of the literature. J Peripher Nerv Syst 2017;22:77-84. [PMID: 28448692 DOI: 10.1111/jns.12216] [Cited by in Crossref: 10] [Cited by in F6Publishing: 9] [Article Influence: 2.5] [Reference Citation Analysis]
Number Citing Articles
1 Gentile L, Russo M, Taioli F, Ferrarini M, Aguennouz M, Rodolico C, Toscano A, Fabrizi GM, Mazzeo A. Rare among Rare: Phenotypes of Uncommon CMT Genotypes. Brain Sci 2021;11:1616. [PMID: 34942918 DOI: 10.3390/brainsci11121616] [Reference Citation Analysis]
2 Lerat J, Magdelaine C, Lunati A, Dzugan H, Dejoie C, Rego M, Beze Beyrie P, Bieth E, Calvas P, Cintas P, Delaubrier A, Demurger F, Gilbert-Dussardier B, Goizet C, Journel H, Laffargue F, Magy L, Taithe F, Toutain A, Urtizberea JA, Sturtz F, Lia AS. Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants. J Neurol Sci 2019;406:116376. [PMID: 31634715 DOI: 10.1016/j.jns.2019.06.027] [Cited by in Crossref: 1] [Cited by in F6Publishing: 1] [Article Influence: 0.3] [Reference Citation Analysis]
3 Xu J, Gu W, Ji K, Xu Z, Zhu H, Zheng W. Sequence analysis and structure prediction of ABHD16A and the roles of the ABHD family members in human disease. Open Biol 2018;8:180017. [PMID: 29794032 DOI: 10.1098/rsob.180017] [Cited by in Crossref: 9] [Cited by in F6Publishing: 8] [Article Influence: 3.0] [Reference Citation Analysis]
4 Lafontaine M, Lia AS, Bourthoumieu S, Beauvais-Dzugan H, Derouault P, Arné-Bes MC, Sarret C, Laffargue F, Magot A, Sturtz F, Magy L, Magdelaine C. Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients. Ann Clin Transl Neurol 2021;8:471-6. [PMID: 33405357 DOI: 10.1002/acn3.51175] [Reference Citation Analysis]
5 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]
6 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]
7 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]
8 Miressi F, Faye PA, Pyromali I, Bourthoumieux S, Derouault P, Husson M, Favreau F, Sturtz F, Magdelaine C, Lia AS. A mutation can hide another one: Think Structural Variants! Comput Struct Biotechnol J 2020;18:2095-9. [PMID: 32832037 DOI: 10.1016/j.csbj.2020.07.021] [Cited by in Crossref: 3] [Cited by in F6Publishing: 2] [Article Influence: 1.5] [Reference Citation Analysis]
9 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]
10 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]
11 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]