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Bi-allelic CSF1R Mutations Cause Skeletal Dysplasia of Dysosteosclerosis-Pyle Disease Spectrum and Degenerative Encephalopathy with Brain Malformation.
Am J Hum Genet. 2019 May 2;104(5):925-935. doi: 10.1016/j.ajhg.2019.03.004. Epub 2019 Apr 11.
Am J Hum Genet. 2019.
PMID: 30982609
Free PMC article.
Mucopolysaccharidosis type IVA: evidence of primary and secondary central nervous system involvement.
Borlot F, Arantes PR, Quaio CR, Franco JF, Lourenço CM, Gomy I, Bertola DR, Kim CA.
Borlot F, et al.
Am J Med Genet A. 2014 May;164A(5):1162-9. doi: 10.1002/ajmg.a.36424. Epub 2014 Jan 29.
Am J Med Genet A. 2014.
PMID: 24478273
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Wiedemann-Rautenstrauch syndrome: A phenotype analysis.
Paolacci S, Bertola D, Franco J, Mohammed S, Tartaglia M, Wollnik B, Hennekam RC.
Paolacci S, et al.
Am J Med Genet A. 2017 Jul;173(7):1763-1772. doi: 10.1002/ajmg.a.38246. Epub 2017 Apr 26.
Am J Med Genet A. 2017.
PMID: 28447407
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New insights in mucopolysaccharidosis type VI: neurological perspective.
Borlot F, Arantes PR, Quaio CR, Franco JF, Lourenço CM, Bertola DR, Kim CA.
Borlot F, et al.
Brain Dev. 2014 Aug;36(7):585-92. doi: 10.1016/j.braindev.2013.07.016. Epub 2013 Aug 21.
Brain Dev. 2014.
PMID: 23972383
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Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study.
Franco JFDS, El Dib R, Agarwal A, Soares D, Milhan NVM, Albano LMJ, Kim CA.
Franco JFDS, et al.
Intractable Rare Dis Res. 2017 Aug;6(3):183-190. doi: 10.5582/irdr.2017.01036.
Intractable Rare Dis Res. 2017.
PMID: 28944140
Free PMC article.
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Clinical course of sly syndrome (mucopolysaccharidosis type VII).
Montaño AM, Lock-Hock N, Steiner RD, Graham BH, Szlago M, Greenstein R, Pineda M, Gonzalez-Meneses A, Çoker M, Bartholomew D, Sands MS, Wang R, Giugliani R, Macaya A, Pastores G, Ketko AK, Ezgü F, Tanaka A, Arash L, Beck M, Falk RE, Bhattacharya K, Franco J, White KK, Mitchell GA, Cimbalistiene L, Holtz M, Sly WS.
Montaño AM, et al.
J Med Genet. 2016 Jun;53(6):403-18. doi: 10.1136/jmedgenet-2015-103322. Epub 2016 Feb 23.
J Med Genet. 2016.
PMID: 26908836
Free PMC article.
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