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Deoxyguanosine kinase mutation producing juvenile-onset mitochondrial myopathy.
Komal FNU, Moretti PM, Shaibani AI. Komal FNU, et al. Neurol Genet. 2018 Sep 19;4(5):e269. doi: 10.1212/NXG.0000000000000269. eCollection 2018 Oct. Neurol Genet. 2018. PMID: 30283818 Free PMC article. No abstract available.
Atypical Alexander disease with dystonia, retinopathy, and a brain mass mimicking astrocytoma.
Machol K, Jankovic J, Vijayakumar D, Burrage LC, Jain M, Lewis RA, Fuller GN, Xu M, Penas-Prado M, Gule-Monroe MK, Rosenfeld JA, Chen R, Eng CM, Yang Y, Lee BH, Moretti PM; Undiagnosed Diseases Network, Dhar SU. Machol K, et al. Neurol Genet. 2018 Jul 20;4(4):e248. doi: 10.1212/NXG.0000000000000248. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30046660 Free PMC article. No abstract available.
Case of late-onset Sandhoff disease due to a novel mutation in the HEXB gene.
Sung AR, Moretti P, Shaibani A. Sung AR, et al. Neurol Genet. 2018 Jul 27;4(4):e260. doi: 10.1212/NXG.0000000000000260. eCollection 2018 Aug. Neurol Genet. 2018. PMID: 30065954 Free PMC article. No abstract available.
Cerebral folate deficiency with developmental delay, autism, and response to folinic acid.
Moretti P, Sahoo T, Hyland K, Bottiglieri T, Peters S, del Gaudio D, Roa B, Curry S, Zhu H, Finnell RH, Neul JL, Ramaekers VT, Blau N, Bacino CA, Miller G, Scaglia F. Moretti P, et al. Neurology. 2005 Mar 22;64(6):1088-90. doi: 10.1212/01.WNL.0000154641.08211.B7. Neurology. 2005. PMID: 15781839
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles.
Boone PM, Yuan B, Campbell IM, Scull JC, Withers MA, Baggett BC, Beck CR, Shaw CJ, Stankiewicz P, Moretti P, Goodwin WE, Hein N, Fink JK, Seong MW, Seo SH, Park SS, Karbassi ID, Batish SD, Ordóñez-Ugalde A, Quintáns B, Sobrido MJ, Stemmler S, Lupski JR. Boone PM, et al. Am J Hum Genet. 2014 Aug 7;95(2):143-61. doi: 10.1016/j.ajhg.2014.06.014. Epub 2014 Jul 24. Am J Hum Genet. 2014. PMID: 25065914 Free PMC article.
Phenotypic expansion in DDX3X - a common cause of intellectual disability in females.
Wang X, Posey JE, Rosenfeld JA, Bacino CA, Scaglia F, Immken L, Harris JM, Hickey SE, Mosher TM, Slavotinek A, Zhang J, Beuten J, Leduc MS, He W, Vetrini F, Walkiewicz MA, Bi W, Xiao R, Liu P, Shao Y, Gezdirici A, Gulec EY, Jiang Y, Darilek SA, Hansen AW, Khayat MM, Pehlivan D, Piard J, Muzny DM, Hanchard N, Belmont JW, Van Maldergem L, Gibbs RA, Eldomery MK, Akdemir ZC, Adesina AM, Chen S, Lee YC; Undiagnosed Diseases Network, Lee B, Lupski JR, Eng CM, Xia F, Yang Y, Graham BH, Moretti P. Wang X, et al. Ann Clin Transl Neurol. 2018 Sep 15;5(10):1277-1285. doi: 10.1002/acn3.622. eCollection 2018 Oct. Ann Clin Transl Neurol. 2018. PMID: 30349862 Free PMC article.
The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.
Besse A, Wu P, Bruni F, Donti T, Graham BH, Craigen WJ, McFarland R, Moretti P, Lalani S, Scott KL, Taylor RW, Bonnen PE. Besse A, et al. Cell Metab. 2015 Mar 3;21(3):417-27. doi: 10.1016/j.cmet.2015.02.008. Cell Metab. 2015. PMID: 25738457 Free PMC article.
MeCP2 dysfunction in Rett syndrome and related disorders.
Moretti P, Zoghbi HY. Moretti P, et al. Curr Opin Genet Dev. 2006 Jun;16(3):276-81. doi: 10.1016/j.gde.2006.04.009. Epub 2006 May 2. Curr Opin Genet Dev. 2006. PMID: 16647848 Review.
Treatment of Wilson disease with ammonium tetrathiomolybdate: IV. Comparison of tetrathiomolybdate and trientine in a double-blind study of treatment of the neurologic presentation of Wilson disease.
Brewer GJ, Askari F, Lorincz MT, Carlson M, Schilsky M, Kluin KJ, Hedera P, Moretti P, Fink JK, Tankanow R, Dick RB, Sitterly J. Brewer GJ, et al. Arch Neurol. 2006 Apr;63(4):521-7. doi: 10.1001/archneur.63.4.521. Arch Neurol. 2006. PMID: 16606763 Clinical Trial.
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