Manfredi G - Search Results

1

Rescue of a mitochondrial deficiency causing Leber Hereditary Optic Neuropathy.

Guy J, Qi X, Pallotti F, Schon EA, Manfredi G, Carelli V, Martinuzzi A, Hauswirth WW, Lewin AS. Guy J, et al. Among authors: manfredi g. Ann Neurol. 2002 Nov;52(5):534-42. doi: 10.1002/ana.10354. Ann Neurol. 2002. PMID: 12402249

2

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

Ciafaloni E, Ricci E, Servidei S, Shanske S, Silvestri G, Manfredi G, Schon EA, DiMauro S. Ciafaloni E, et al. Among authors: manfredi g. Neurology. 1991 Oct;41(10):1663-4. doi: 10.1212/wnl.41.10.1663. Neurology. 1991. PMID: 1922812 No abstract available.

3

A new mutation associated with MELAS is located in a mitochondrial DNA polypeptide-coding gene.

Manfredi G, Schon EA, Moraes CT, Bonilla E, Berry GT, Sladky JT, DiMauro S. Manfredi G, et al. Neuromuscul Disord. 1995 Sep;5(5):391-8. doi: 10.1016/0960-8966(94)00079-o. Neuromuscul Disord. 1995. PMID: 7496173 Free article.

4

High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.

Manfredi G, Servidei S, Bonilla E, Shanske S, Schon EA, DiMauro S, Moraes CT. Manfredi G, et al. Neurology. 1995 Apr;45(4):762-8. doi: 10.1212/wnl.45.4.762. Neurology. 1995. PMID: 7723967

5

Efficient and specific amplification of identified partial duplications of human mitochondrial DNA by long PCR.

Fromenty B, Manfredi G, Sadlock J, Zhang L, King MP, Schon EA. Fromenty B, et al. Among authors: manfredi g. Biochim Biophys Acta. 1996 Sep 11;1308(3):222-30. doi: 10.1016/0167-4781(96)00110-8. Biochim Biophys Acta. 1996. PMID: 8809114 Free article.

6

Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.

Manfredi G, Schon EA, Bonilla E, Moraes CT, Shanske S, DiMauro S. Manfredi G, et al. Hum Mutat. 1996;7(2):158-63. doi: 10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1. Hum Mutat. 1996. PMID: 8829635 No abstract available.

7

Association of myopathy with large-scale mitochondrial DNA duplications and deletions: which is pathogenic?

Manfredi G, Vu T, Bonilla E, Schon EA, DiMauro S, Arnaudo E, Zhang L, Rowland LP, Hirano M. Manfredi G, et al. Ann Neurol. 1997 Aug;42(2):180-8. doi: 10.1002/ana.410420208. Ann Neurol. 1997. PMID: 9266727

8

The fate of human sperm-derived mtDNA in somatic cells.

Manfredi G, Thyagarajan D, Papadopoulou LC, Pallotti F, Schon EA. Manfredi G, et al. Am J Hum Genet. 1997 Oct;61(4):953-60. doi: 10.1086/514887. Am J Hum Genet. 1997. PMID: 9382109 Free PMC article.

9

Oligomycin induces a decrease in the cellular content of a pathogenic mutation in the human mitochondrial ATPase 6 gene.

Manfredi G, Gupta N, Vazquez-Memije ME, Sadlock JE, Spinazzola A, De Vivo DC, Schon EA. Manfredi G, et al. J Biol Chem. 1999 Apr 2;274(14):9386-91. doi: 10.1074/jbc.274.14.9386. J Biol Chem. 1999. PMID: 10092618 Free article.

10

A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.

Bruno C, Martinuzzi A, Tang Y, Andreu AL, Pallotti F, Bonilla E, Shanske S, Fu J, Sue CM, Angelini C, DiMauro S, Manfredi G. Bruno C, et al. Among authors: manfredi g. Am J Hum Genet. 1999 Sep;65(3):611-20. doi: 10.1086/302546. Am J Hum Genet. 1999. PMID: 10441567 Free PMC article.

Save citations to file

Email citations

Send citations to clipboard

Add to Collections

Add to My Bibliography

Create a file for external citation management software

Your saved search

Your RSS Feed

My Custom Filters

Publication date

Text availability

Article attribute

Article type

Article Language

Species

Sex

Age

Other

518 results

Search Page

Filters