Lu J - Search Results

1

Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.

Tay SK, Shanske S, Crowe C, Shanske A, Schafer I, Pancrudo J, Lu J, Bonilla E, DiMauro S. Tay SK, et al. Among authors: lu j. J Child Neurol. 2005 Feb;20(2):142-6. doi: 10.1177/08830738050200022301. J Child Neurol. 2005. PMID: 15794182

2

Mitochondrial myopathy associated with a novel mutation in mtDNA.

Pancrudo J, Shanske S, Coku J, Lu J, Mardach R, Akman O, Krishna S, Bonilla E, DiMauro S. Pancrudo J, et al. Among authors: lu j. Neuromuscul Disord. 2007 Aug;17(8):651-4. doi: 10.1016/j.nmd.2007.04.005. Epub 2007 Jun 27. Neuromuscul Disord. 2007. PMID: 17588757 Free PMC article.

3

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: lu j. 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

4

Novel mitochondrial DNA ND5 mutation in a patient with clinical features of MELAS and MERRF.

Naini AB, Lu J, Kaufmann P, Bernstein RA, Mancuso M, Bonilla E, Hirano M, DiMauro S. Naini AB, et al. Among authors: lu j. Arch Neurol. 2005 Mar;62(3):473-6. doi: 10.1001/archneur.62.3.473. Arch Neurol. 2005. PMID: 15767514

5

A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.

Tanji K, Kaufmann P, Naini AB, Lu J, Parsons TC, Wang D, Willey JZ, Shanske S, Hirano M, Bonilla E, Khandji A, Dimauro S, Rowland LP. Tanji K, et al. Among authors: lu j. J Neurol Sci. 2008 Jul 15;270(1-2):23-7. doi: 10.1016/j.jns.2008.01.016. Epub 2008 Mar 7. J Neurol Sci. 2008. PMID: 18314141 Free PMC article.

6

The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.

Shanske S, Coku J, Lu J, Ganesh J, Krishna S, Tanji K, Bonilla E, Naini AB, Hirano M, DiMauro S. Shanske S, et al. Among authors: lu j. Arch Neurol. 2008 Mar;65(3):368-72. doi: 10.1001/archneurol.2007.67. Arch Neurol. 2008. PMID: 18332249

7

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: lu j. 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.

8

Study of mitochondrial DNA mutations in patients with migraine with prolonged aura.

Rozen TD, Shanske S, Otaegui D, Lu J, Young WB, Bradley K, DiMauro S, Silberstein SD. Rozen TD, et al. Among authors: lu j. Headache. 2004 Jul-Aug;44(7):674-7. doi: 10.1111/j.1526-4610.2004.04126.x. Headache. 2004. PMID: 15209689

9

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment.

Samanich J, Lowes C, Burk R, Shanske S, Lu J, Shanske A, Morrow BE. Samanich J, et al. Among authors: lu j. Am J Med Genet A. 2007 Apr 15;143A(8):830-8. doi: 10.1002/ajmg.a.31668. Am J Med Genet A. 2007. PMID: 17357124

10

A novel POLG gene mutation in a patient with SANDO.

Kurt B, Naini AB, Copeland WC, Lu J, Dimauro S, Hirano M. Kurt B, et al. Among authors: lu j. J Exp Integr Med. 2012;2(2):10.5455/jeim.200312.cr.001. doi: 10.5455/jeim.200312.cr.001. J Exp Integr Med. 2012. PMID: 24265579 Free PMC article.

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