Scaglia F - Search Results

1

A Recurrent De Novo Variant in NACC1 Causes a Syndrome Characterized by Infantile Epilepsy, Cataracts, and Profound Developmental Delay.

Schoch K, Meng L, Szelinger S, Bearden DR, Stray-Pedersen A, Busk OL, Stong N, Liston E, Cohn RD, Scaglia F, Rosenfeld JA, Tarpinian J, Skraban CM, Deardorff MA, Friedman JN, Akdemir ZC, Walley N, Mikati MA, Kranz PG, Jasien J, McConkie-Rosell A, McDonald M, Wechsler SB, Freemark M, Kansagra S, Freedman S, Bali D, Millan F, Bale S, Nelson SF, Lee H, Dorrani N; UCLA Clinical Genomics Center; Undiagnosed Diseases Network; Goldstein DB, Xiao R, Yang Y, Posey JE, Martinez-Agosto JA, Lupski JR, Wangler MF, Shashi V. Schoch K, et al. Among authors: scaglia f. Am J Hum Genet. 2017 Feb 2;100(2):343-351. doi: 10.1016/j.ajhg.2016.12.013. Epub 2017 Jan 26. Am J Hum Genet. 2017. PMID: 28132692 Free PMC article.

2

Compensating for central nervous system dysmyelination: females with a proteolipid protein gene duplication and sustained clinical improvement.

Inoue K, Tanaka H, Scaglia F, Araki A, Shaffer LG, Lupski JR. Inoue K, et al. Among authors: scaglia f. Ann Neurol. 2001 Dec;50(6):747-54. doi: 10.1002/ana.10036. Ann Neurol. 2001. PMID: 11761472

3

Variant Gaucher disease characterized by dysmorphic features, absence of cardiovascular involvement, laryngospasm, and compound heterozygosity for a novel mutation (D409H/C16S).

Bodamer OA, Church HJ, Cooper A, Wraith JE, Scott CR, Scaglia F. Bodamer OA, et al. Among authors: scaglia f. Am J Med Genet. 2002 May 15;109(4):328-31. doi: 10.1002/ajmg.10385. Am J Med Genet. 2002. PMID: 11992489

4

Differential utilization of systemic and enteral ammonia for urea synthesis in control subjects and ornithine transcarbamylase deficiency carriers.

Scaglia F, Marini J, Rosenberger J, Henry J, Garlick P, Lee B, Reeds P. Scaglia F, et al. Am J Clin Nutr. 2003 Oct;78(4):749-55. doi: 10.1093/ajcn/78.4.749. Am J Clin Nutr. 2003. PMID: 14522733

5

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.

Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F. Moretti P, et al. Among authors: scaglia f. Am J Med Genet A. 2004 Feb 1;124A(4):392-6. doi: 10.1002/ajmg.a.20428. Am J Med Genet A. 2004. PMID: 14735588

6

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.

Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. Szigeti K, et al. Among authors: scaglia f. J Med Genet. 2004 Feb;41(2):125-9. doi: 10.1136/jmg.2003.013789. J Med Genet. 2004. PMID: 14757860 Free PMC article.

7

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.

Scaglia F, Carter S, O'Brien WE, Lee B. Scaglia F, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85. doi: 10.1016/j.ymgme.2003.11.017. Mol Genet Metab. 2004. PMID: 15050979

8

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.

Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Lalani SR, et al. Among authors: scaglia f. Arch Neurol. 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. Arch Neurol. 2005. PMID: 15710863

9

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. Among authors: scaglia f. Neurology. 2005 Mar 22;64(6):1088-90. doi: 10.1212/01.WNL.0000154641.08211.B7. Neurology. 2005. PMID: 15781839

10

Clinical, biochemical, and molecular spectrum of hyperargininemia due to arginase I deficiency.

Scaglia F, Lee B. Scaglia F, et al. Am J Med Genet C Semin Med Genet. 2006 May 15;142C(2):113-20. doi: 10.1002/ajmg.c.30091. Am J Med Genet C Semin Med Genet. 2006. PMID: 16602094 Free PMC article. Review.

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