P01 HD08315/HD/NICHD NIH HHS/United States[Grant Number] - Search Results

Year	Number of Results
1989	1
1991	1
1992	3
1993	1
1994	2
1995	2
1996	2
2001	1
2003	1
2004	1
2021	0

1

Duplications of mitochondrial DNA in Kearns-Sayre syndrome.

Poulton J, Morten KJ, Marchington D, Weber K, Brown GK, Rötig A, Bindoff L. Poulton J, et al. Muscle Nerve Suppl. 1995;3:S154-8. doi: 10.1002/mus.880181430. Muscle Nerve Suppl. 1995. PMID: 7603518

2

Are duplications of mitochondrial DNA characteristic of Kearns-Sayre syndrome?

Poulton J, Morten KJ, Weber K, Brown GK, Bindoff L. Poulton J, et al. Hum Mol Genet. 1994 Jun;3(6):947-51. doi: 10.1093/hmg/3.6.947. Hum Mol Genet. 1994. PMID: 7951243 Clinical Trial.

3

The molecular basis of cystathionine beta-synthase (CBS) deficiency in UK and US patients with homocystinuria.

Moat SJ, Bao L, Fowler B, Bonham JR, Walter JH, Kraus JP. Moat SJ, et al. Hum Mutat. 2004 Feb;23(2):206. doi: 10.1002/humu.9214. Hum Mutat. 2004. PMID: 14722927

4

MDL1 is a high copy suppressor of ATM1: evidence for a role in resistance to oxidative stress.

Chloupková M, LeBard LS, Koeller DM. Chloupková M, et al. J Mol Biol. 2003 Aug 1;331(1):155-65. doi: 10.1016/s0022-2836(03)00666-1. J Mol Biol. 2003. PMID: 12875842

5

A heteroplasmic LHON family: tissue distribution and transmission of the 11778 mutation.

Howell N, Xu M, Halvorson S, Bodis-Wollner I, Sherman J. Howell N, et al. Am J Hum Genet. 1994 Jul;55(1):203-6. Am J Hum Genet. 1994. PMID: 8023847 Free PMC article. No abstract available.

6

Impaired heme binding and aggregation of mutant cystathionine beta-synthase subunits in homocystinuria.

Janosík M, Oliveriusová J, Janosíková B, Sokolová J, Kraus E, Kraus JP, Kozich V. Janosík M, et al. Am J Hum Genet. 2001 Jun;68(6):1506-13. doi: 10.1086/320597. Epub 2001 May 15. Am J Hum Genet. 2001. PMID: 11359213 Free PMC article.

7

Phylogenetic analysis of the mitochondrial genomes from Leber hereditary optic neuropathy pedigrees.

Howell N, Kubacka I, Halvorson S, Howell B, McCullough DA, Mackey D. Howell N, et al. Genetics. 1995 May;140(1):285-302. Genetics. 1995. PMID: 7635294 Free PMC article.

8

A variant of Leber hereditary optic neuropathy characterized by recovery of vision and by an unusual mitochondrial genetic etiology.

Mackey D, Howell N. Mackey D, et al. Am J Hum Genet. 1992 Dec;51(6):1218-28. Am J Hum Genet. 1992. PMID: 1463007 Free PMC article.

9

Leber hereditary optic neuropathy: involvement of the mitochondrial ND1 gene and evidence for an intragenic suppressor mutation.

Howell N, Kubacka I, Xu M, McCullough DA. Howell N, et al. Am J Hum Genet. 1991 May;48(5):935-42. Am J Hum Genet. 1991. PMID: 2018041 Free PMC article.

10

Assignment of Etfdh, Etfb, and Etfa to chromosomes 3, 7, and 13: the mouse homologs of genes responsible for glutaric acidemia type II in human.

White RA, Dowler LL, Angeloni SV, Koeller DM. White RA, et al. Genomics. 1996 Apr 1;33(1):131-4. doi: 10.1006/geno.1996.0170. Genomics. 1996. PMID: 8617498

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