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1

Mitochondrial abnormalities in muscle and other aging cells: Classification, causes, and effects

Salvatore DiMauro, Kurenai Tanji, Eduardo Bonilla, Francesco Pallotti, Eric A. Schon

Journal:

Year:

2002

Language:

english

File:

PDF, 681 KB

english, 2002

2

Diseases of Oxidative Phosphorylation Due to mtDNA Mutations

DiMauro, Salvatore, Andreu, Antoni L., Musumeci, Olimpia, Bonilla, Eduardo

Journal:

Seminars in Neurology

Year:

2001

Language:

english

File:

PDF, 446 KB

english, 2001

3

Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction

Monica Sciacco, Pasquale Gasparo-Rippa, Tuan H. Vu, Kurenai Tanji, Sara Shanske, Jerry R. Mendell, Eric A. Schon, Salvatore DiMauro, Eduardo Bonilla

Journal:

Year:

1998

Language:

english

File:

PDF, 432 KB

english, 1998

4

Analysis of mtDNA deletions in muscle by in situ hybridization

Tuan H. Vu, Kurenai Tanji, Francesco Pallotti, Valeria Golzi, Michio Hirano, Salvatore DiMauro, Eduardo Bonilla

Journal:

Year:

2000

Language:

english

File:

PDF, 897 KB

english, 2000

5

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

Moraes, Carlos T., Ciacci, Federica, Silvestri, Gabriella, Shanske, Sara, Sciacco, Monica, Hirano, Michio, Schon, Eric A., Bonilla, Eduardo, DiMauro, Salvatore

Journal:

Neuromuscular Disorders

Year:

1993

Language:

english

File:

PDF, 678 KB

english, 1993

6

Novel Mitochondrial DNA ND5 Mutation in a Patient With Clinical Features of MELAS and MERRF

Naini, Ali B., Lu, Jiesheng, Kaufmann, Petra, Bernstein, Richard A., Mancuso, Michelangelo, Bonilla, Eduardo, Hirano, Michio, DiMauro, Salvatore

Journal:

Archives of Neurology

Year:

2005

Language:

english

File:

PDF, 130 KB

english, 2005

7

Identification of a mutation in the mitochondrial tRNACys gene associated with mitochondrial encephalopathy

Giovanni Manfredi, Eric A. Schon, Eduardo Bonilla, Carlos T. Moraes, Sara Shanske, Salvatore DiMauro

Journal:

Year:

1996

Language:

english

File:

PDF, 525 KB

english, 1996

8

Kearns-Sayre syndrome: Unusual pattern of expression of subunits of the respiratory chain in the cerebellar system

Kurenai Tanji, Tuan H. Vu, Eric A. Schon, Salvatore DiMauro, Eduardo Bonilla

Journal:

Annals of Neurology

Year:

1999

Language:

english

File:

PDF, 1.10 MB

english, 1999

9

Mitochondrial myopathies

Dr Salvatore DiMauro, Eduardo Bonilla, Massimo Zeviani, Masanori Nakagawa, Darryl C. DeVivo

Journal:

Annals of Neurology

Year:

1985

Language:

english

File:

PDF, 2.75 MB

english, 1985

10

Association of myopathy with large-scale mitochondrial dna duplications and deletions: Which is pathogenic?

Giovanni Manfredi, Tuan Vu, Eduardo Bonilla, Eric A. Schon, Salvatore DiMauro, Enrica Arnaudo, Lee Zhang, Lewis P. Rowland, Michio Hirano

Journal:

Annals of Neurology

Year:

1997

Language:

english

File:

PDF, 1009 KB

english, 1997

11

Raman, IR, UV–vis and EPR characterization of two copper dioxolene complexes derived from L-dopa and dopamine

Wagner J. Barreto, Sônia R.G. Barreto, Rômulo A. Ando, Paulo S. Santos, Eduardo DiMauro, Thiago Jorge

Journal:

Spectrochimica Acta Part A: Molecular and Biomolecular Spectroscopy

Year:

2008

Language:

english

File:

PDF, 333 KB

english, 2008

12

Molecular defects in cytochrome oxidase in mitochondrial diseases

Salvatore DiMauro, Massimo Zeviani, Rosario Rizzuto, Anne Lombes, Hirofumi Nakase, Eduardo Bonilla, Armand Miranda, Eric Schon

Journal:

Journal of Bioenergetics and Biomembranes

Year:

1988

Language:

english

File:

PDF, 681 KB

english, 1988

13

The A8344G mutation in mitochondrial DNA associated with stroke-like episodes and gastrointestinal dysfunction

Kurenai Tanji, Josep Gamez, Carles Cervera, Fermin Mearin, Arantxa Ortega, Javier de la Torre, Julio Montoya, Antoni L. Andreu, Salvatore DiMauro, Eduardo Bonilla

Journal:

Acta Neuropathologica

Year:

2003

Language:

english

File:

PDF, 658 KB

english, 2003

14

Mitochondrial DNA deletion: A cause of chronic tubulointerstitial nephropathy

Szabolcs, Matthias J, Seigle, Robert, Shanske, Sarah, Bonilla, Eduardo, DiMauro, Salvatore, D'Agati, Vivette

Journal:

Kidney International

Year:

1994

Language:

english

File:

PDF, 1.16 MB

english, 1994

15

A mitochondrial tRNA anticodon swap associated with a muscle disease

Moraes, Carlos T., Ciacci, Federica, Bonilla, Eduardo, Ionasescu, Victor, Schon, Eric A., DiMauro, Salvatore

Journal:

Nature Genetics

Year:

1993

File:

PDF, 575 KB

1993

16

Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions

Moraes, Carlos T., Ricci, Enzo, Petruzzella, Vittoria, Shanske, Sara, DiMauro, Salvatore, Schon, Eric A., Bonilla, Eduardo

Journal:

Nature Genetics

Year:

1992

File:

PDF, 2.56 MB

1992

17

Mitochondrial DNA Mutations and Pathogenesis

Eric A. Schon, Eduardo Bonilla, Salvatore DiMauro

Journal:

Journal of Bioenergetics and Biomembranes

Year:

1997

Language:

english

File:

PDF, 2.01 MB

english, 1997

18

Navajo neurohepatopathy: A mitochondrial DNA depletion syndrome?

Tuan H. Vu, Kurenai Tanji, Stephen A. Holve, Eduardo Bonilla, Ronald J. Sokol, Russell D. Snyder, Stephany Fiore, Gail H. Deutsch, Salvatore DiMauro, Darryl De Vivo

Journal:

Year:

2001

Language:

english

File:

PDF, 194 KB

english, 2001

19

Cytochrome c Oxidase Deficiency

DiMauro, Salvatore, Lombes, Anne, Nakase, Hirofumi, Mita, Shuji, Fabrizi, Gian Maria, Bonilla, Eduardo, Miranda, Armand F, DeVivo, Darryl C, Schon, Eric A

Journal:

Pediatric Research

Year:

1990

Language:

english

File:

PDF, 5.71 MB

english, 1990

20

Mitochondrial myopathy simulating spinal muscular atrophy

Roser Pons, Francesca Andreetta, Ching H. Wang, Tuan H. Vu, Eduardo Bonilla, Salvatore DiMauro, Darryl C. De Vivo

Journal:

Pediatric Neurology

Year:

1996

Language:

english

File:

PDF, 613 KB

english, 1996

21

Mitochondrial myopathy associated with a novel mutation in mtDNA

Jacklyn Pancrudo, Sara Shanske, Jorida Coku, J. Lu, Rebecca Mardach, Orhan Akman, Sindu Krishna, Eduardo Bonilla, Salvatore DiMauro

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 145 KB

english, 2007

22

Mitochondrial involvement in Alzheimer’s disease

Eduardo Bonilla, Kurenai Tanji, Michio Hirano, Tuan H. Vu, Salvatore DiMauro, Eric A. Schon

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

1999

Language:

english

File:

PDF, 3.69 MB

english, 1999

23

Mitochondria in neuromuscular disorders

Salvatore DiMauro, Eduardo Bonilla, Mercy Davidson, Michio Hirano, Eric A. Schon

Journal:

Biochimica et Biophysica Acta (BBA) - Bioenergetics

Year:

1998

Language:

english

File:

PDF, 737 KB

english, 1998

24

Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA

Charalampos L Karadimas, Leonardo Salviati, Sabrina Sacconi, Penelope Chronopoulou, Sara Shanske, Eduardo Bonilla, Darryl C De Vivo, Salvatore DiMauro

Journal:

Neuromuscular Disorders

Year:

2002

Language:

english

File:

PDF, 77 KB

english, 2002

25

A novel mitochondrial tRNALeu(UUR) mutation in a patient with features of MERRF and Kearns–Sayre syndrome

Yutaka Nishigaki, Saba Tadesse, Eduardo Bonilla, Dikoma Shungu, Stephen Hersh, Bronya J.B Keats, Charles I Berlin, Morton F Goldberg, Jerry Vockley, Salvatore DiMauro, Michio Hirano

Journal:

Neuromuscular Disorders

Year:

2003

Language:

english

File:

PDF, 409 KB

english, 2003

26

A Stop-Codon Mutation in the Human mtDNA Cytochrome c Oxidase I Gene Disrupts the Functional Structure of Complex IV

Claudio Bruno, Andrea Martinuzzi, Yingying Tang, Antoni L. Andreu, Francesco Pallotti, Eduardo Bonilla, Sara Shanske, Jin Fu, Carolyn M. Sue, Corrado Angelini, Salvatore DiMauro, Giovanni Manfredi

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 1.16 MB

english, 1999

27

Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome

Sara Shanske, Yingying Tang, Michio Hirano, Yutaka Nishigaki, Kurenai Tanji, Eduardo Bonilla, Carolyn Sue, Sindu Krishna, Jose R. Carlo, Judith Willner, Eric A. Schon, Salvatore DiMauro

Journal:

The American Journal of Human Genetics

Year:

2002

Language:

english

File:

PDF, 173 KB

english, 2002

28

Caveolin-1(−/−)- and Caveolin-2(−/−)-Deficient Mice Both Display Numerous Skeletal Muscle Abnormalities, with Tubular Aggregate Formation

William Schubert, Federica Sotgia, Alex W. Cohen, Franco Capozza, Gloria Bonuccelli, Claudio Bruno, Carlo Minetti, Eduardo Bonilla, Salvatore DiMauro, Michael P. Lisanti

Journal:

The American Journal of Pathology

Year:

2007

Language:

english

File:

PDF, 2.77 MB

english, 2007

29

Cytochrome Oxidase Deficiency: Clinical and Biochemical Heterogeneity

SALVATORE DIMAURO, MASSIMO ZEVIANI, SERENELLA SERVIDEI, EDUARDO BONILLA, ARMAND F. MIRANDA, ALESSANDRO PRELLE, ERIC A. SCHON

Journal:

Annals of the New York Academy of Sciences

Year:

1986

Language:

english

File:

PDF, 870 KB

english, 1986

30

Localization of mitochondrial DNA in normal and pathological muscle using immunological probes: A new approach to the study of mitochondrial myopathies

Francesca Andreetta, Hans-Jurgen Tritschler, Eric A. Schon, Salvatore DiMauro, Eduardo Bonilla

Journal:

Journal of the Neurological Sciences

Year:

1991

Language:

english

File:

PDF, 830 KB

english, 1991

31

A novel tRNAVal mitochondrial DNA mutation causing MELAS

Kurenai Tanji, Petra Kaufmann, Ali B. Naini, Jiesheng Lu, Timothy C. Parsons, Dong Wang, Joshua Z. Willey, Sara Shanske, Michio Hirano, Eduardo Bonilla, Alexander Khandji, Salvatore DiMauro, Lewis P.

Journal:

Journal of the Neurological Sciences

Year:

2008

Language:

english

File:

PDF, 897 KB

english, 2008

32

Decreased hippocampal expression of calbindin D28K and cognitive impairment in MELAS

Valentina Emmanuele, Angels Garcia-Cazorla, Hua-Bin Huang, Jorida Çoku, Beatriz Dorado, Etty P. Cortes, Kristin Engelstad, Darryl C. De Vivo, Salvatore DiMauro, Eduardo Bonilla, Kurenai Tanji

Journal:

Journal of the Neurological Sciences

Year:

2012

Language:

english

File:

PDF, 473 KB

english, 2012

33

Kearns–Sayre syndrome: oncocytic transformation of choroid plexus epithelium

Kurenai Tanji, Eric A Schon, Salvatore DiMauro, Eduardo Bonilla

Journal:

Journal of the Neurological Sciences

Year:

2000

Language:

english

File:

PDF, 1.54 MB

english, 2000

34

Disconnection of cerebellar Purkinje cells in Kearns-Sayre syndrome

Kurenai Tanji, Salvatore DiMauro, Eduardo Bonilla

Journal:

Journal of the Neurological Sciences

Year:

1999

Language:

english

File:

PDF, 2.69 MB

english, 1999

35

Electron cytochemistry of crystalline inclusions in human skeletal muscle mitochondria

Eduardo Bonilla, Donald L. Schotland, Salvatore DiMauro, Belen Aldover

Journal:

Journal of Ultrastructure Research

Year:

1975

Language:

english

File:

PDF, 4.04 MB

english, 1975

36

Clinical and Biochemical Studies on Cytochrome Oxidase Deficiencies

ERIC A. SCHON, EDUARDO BONILLA, ANNE LOMBES, CARLOS T. MORAES, HIROFUMI NAKASE, ROSARIO RIZZUTO, MASSIMO ZEVIANI, SALVATORE DiMAURO

Journal:

Annals of the New York Academy of Sciences

Year:

1988

Language:

english

File:

PDF, 757 KB

english, 1988

37

Mitochondrial DNA Deletions in Progressive External Ophthalmoplegia and Kearns-Sayre Syndrome

Moraes, Carlos T., DiMauro, Salvatore, Zeviani, Massimo, Lombes, Anne, Shanske, Sara, Miranda, Armand F., Nakase, Hirofumi, Bonilla, Eduardo, Werneck, Lineu C., Servidei, Serenella, Nonaka, Ikuya, Kog

Journal:

Boston Medical and Surgical Journal

Year:

1989

Language:

english

File:

PDF, 2.97 MB

english, 1989

38

Mutation Screening in Patients With Isolated Cytochrome c Oxidase Deficiency

Sacconi, Sabrina, Salviati, Leonardo, Sue, Carolyn M, Shanske, Sara, Davidson, Mercy M, Bonilla, Eduardo, Naini, Ali B, De Vivo, Darryl C, Dimauro, Salvatore

Journal:

Pediatric Research

Year:

2003

Language:

english

File:

PDF, 354 KB

english, 2003

39

Immunolocalization of heat shock proteins in ragged-red fibers of patients with mitochondrial encephalomyopathies

Sparaco, Marco, Rosoklija, Gorazd, Tanji, Kurenai, Sciacco, Monica, Latov, Norman, DiMauro, Salvatore, Bnilla, Eduardo

Journal:

Neuromuscular Disorders

Year:

1993

Language:

english

File:

PDF, 678 KB

english, 1993

40

Duchenne muscular dystrophy: Deficiency of dystrophin at the muscle cell surface

Bonilla, Eduardo, Samitt, Craig E., Miranda, Armand F., Hays, Arthur P., Salviati, Giovanni, DiMauro, Salvatore, Kunkel, Louis M., Hoffman, Eric P., Rowland, Lewis P.

Journal:

Year:

1988

Language:

english

File:

PDF, 3.02 MB

english, 1988

41

Detection of "Deleted" Mitochondrial Genomes in Cytochrome-c Oxidase-Deficient Muscle Fibers of a Patient with Kearns-Sayre Syndrome

Shuji Mita, Beny Schmidt, Eric A. Schon, Salvatore DiMauro and Eduardo Bonilla

Journal:

Proceedings of the National Academy of Sciences

Year:

1989

Language:

english

File:

PDF, 1.31 MB

english, 1989

42

Myoclonic Epilepsy with Ragged-red Fibers (MERRF): An Immunohistochemical Study of the Brain

Sparaco, Marco, Schon, Eric A., DiMauro, Salvatore, Bonilla, Eduardo

Journal:

Brain Pathology

Year:

1995

Language:

english

File:

PDF, 1.12 MB

english, 1995

43

Extremely high levels of mutant mtDNAs co-localize with cytocohrome c oxidase-negative ragged-red fibers in patients harboring a point mutation at nt 3243

Petruzzella, Vittorla, Moraes, Carlos T., Sano, Mary C., Bonilla, S Eduardo, DiMauro, Salvatore, Schon, Eric A.

Journal:

Human Molecular Genetics

Year:

1994

Language:

english

File:

PDF, 4.37 MB

english, 1994

44

Cytochrome c Oxidase Deficiency Due to a Novel SCO2 Mutation Mimics Werdnig-Hoffmann Disease

Salviati, Leonardo, Sacconi, Sabrina, Rasalan, Minerva M., Kronn, David F., Braun, Alex, Canoll, Peter, Davidson, Mercy, Shanske, Sara, Bonilla, Eduardo, Hays, Arthur P., Schon, Eric A., DiMauro, Salv

Journal:

Archives of Neurology

Year:

2002

Language:

english

File:

PDF, 206 KB

english, 2002

45

Complex Neurologic Syndrome Associated With the G1606A Mutation of Mitochondrial DNA

Sacconi, Sabrina, Salviati, Leonardo, Gooch, Clifton, Bonilla, Eduardo, Shanske, Sara, DiMauro, Salvatore

Journal:

Archives of Neurology

Year:

2002

Language:

english

File:

PDF, 96 KB

english, 2002

46

A Disorder of Muscle Lipid Metabolism and Myoglobinuria

Bank, William J., DiMauro, Salvatore, Bonilla, Eduardo, Capuzzi, David M., Rowland, Lewis P.

Journal:

Boston Medical and Surgical Journal

Year:

1975

Language:

english

File:

PDF, 6.28 MB

english, 1975

47

Clinical Spectrum of Mitochondrial DNA Depletion Due to Mutations in the Thymidine Kinase 2 Gene

Oskoui, Maryam, Davidzon, Guido, Pascual, Juan, Erazo, Ricardo, Gurgel-Giannetti, Juliana, Krishna, Sindu, Bonilla, Eduardo, De Vivo, Darryl C., Shanske, Sara, DiMauro, Salvatore

Journal:

Archives of Neurology

Year:

2006

Language:

english

File:

PDF, 179 KB

english, 2006

48

Mitochondrial Myopathy of Childhood Associated With Mitochondrial DNA Depletion and a Homozygous Mutation (T77M) in the TK2 Gene

Mancuso, Michelangelo, Filosto, Massimiliano, Bonilla, Eduardo, Hirano, Michio, Shanske, Sara, Vu, Tuan H., DiMauro, Salvatore

Journal:

Archives of Neurology

Year:

2003

Language:

english

File:

PDF, 148 KB

english, 2003

49

Neuropathology of Mitochondrial Encephalomyopathies Due to Mitochondrial DNA Defects

Sparaco, Marco, Bonilla, Eduardo, DiMauro, Salvatore, Powers, James M.

Journal:

Journal of Neuropathology and Experimental Neurology

Year:

1993

File:

PDF, 890 KB

1993

50

Cytochrome c oxidase deficiency

DiMAURO, SALVATORE, ZEVIANI, MASSIMO, BONILLA, EDUARDO, BRESOLIN, NEREO, NAKAGAWA, MASANORI, MIRANDA, ARMAND F., MOGGIO, MAURIZIO

Journal:

Biochemical Society Transactions

Year:

1985

Language:

english

File:

PDF, 386 KB

english, 1985