Naini A - Search Results

1

Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.

Hadjigeorgiou GM, Sadeh M, Musumeci O, Dabby R, De Girolami L, Naini A, Papadimitriou A, Shanske S, DiMauro S. Hadjigeorgiou GM, et al. Among authors: naini a. Neuromuscul Disord. 2002 Nov;12(9):824-7. doi: 10.1016/s0960-8966(02)00028-7. Neuromuscul Disord. 2002. PMID: 12398832 Clinical Trial.

2

Muscle phosphoglycerate mutase deficiency revisited.

Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Naini A, et al. Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584. Arch Neurol. 2009. PMID: 19273759

3

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.

Thomas-Wilson A, Dharmadhikari AV, Heymann JJ, Jobanputra V, DiMauro S, Hirano M, Naini AB, Ganapathi M. Thomas-Wilson A, et al. Among authors: naini ab. Cold Spring Harb Mol Case Stud. 2022 Mar 24;8(2):a006173. doi: 10.1101/mcs.a006173. Print 2022 Feb. Cold Spring Harb Mol Case Stud. 2022. PMID: 35022222 Free PMC article.

4

Detection of mutations in mtDNA.

Naini A, Shanske S. Naini A, et al. Methods Cell Biol. 2007;80:437-63. doi: 10.1016/S0091-679X(06)80022-1. Methods Cell Biol. 2007. PMID: 17445708 Review. No abstract available.

5

Identification of mutations in mtDNA from patients suffering mitochondrial diseases.

Schon EA, Naini A, Shanske S. Schon EA, et al. Among authors: naini a. Methods Mol Biol. 2002;197:55-74. doi: 10.1385/1-59259-284-8:055. Methods Mol Biol. 2002. PMID: 12013813 No abstract available.

6

Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.

Bornstein B, Area E, Flanigan KM, Ganesh J, Jayakar P, Swoboda KJ, Coku J, Naini A, Shanske S, Tanji K, Hirano M, DiMauro S. Bornstein B, et al. Among authors: naini a. Neuromuscul Disord. 2008 Jun;18(6):453-9. doi: 10.1016/j.nmd.2008.04.006. Epub 2008 May 27. Neuromuscul Disord. 2008. PMID: 18504129 Free PMC article.

7

Mutation screening in patients with isolated cytochrome c oxidase deficiency.

Sacconi S, Salviati L, Sue CM, Shanske S, Davidson MM, Bonilla E, Naini AB, De Vivo DC, DiMauro S. Sacconi S, et al. Pediatr Res. 2003 Feb;53(2):224-30. doi: 10.1203/01.PDR.0000048100.91730.6A. Pediatr Res. 2003. PMID: 12538779

8

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.

Shanske S, Pancrudo J, Kaufmann P, Engelstad K, Jhung S, Lu J, Naini A, DiMauro S, De Vivo DC. Shanske S, et al. Among authors: naini a. Am J Med Genet A. 2004 Oct 1;130A(2):134-7. doi: 10.1002/ajmg.a.30220. Am J Med Genet A. 2004. PMID: 15372523

9

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.

Mehrazin M, Shanske S, Kaufmann P, Wei Y, Coku J, Engelstad K, Naini A, De Vivo DC, DiMauro S. Mehrazin M, et al. Among authors: naini a. Am J Med Genet A. 2009 Feb 15;149A(4):584-7. doi: 10.1002/ajmg.a.32703. Am J Med Genet A. 2009. PMID: 19253345 Free PMC article.

10

Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.

Shanske S, Naini A, Chmait RH, Akman HO, Mansukhani M, Lu J, Hirano M, DiMauro S. Shanske S, et al. Among authors: naini a. J Child Neurol. 2013 Feb;28(2):264-8. doi: 10.1177/0883073812441067. Epub 2012 Apr 24. J Child Neurol. 2013. PMID: 22532554 Free PMC article.

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