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1

Mitochondrial diseases

Gorman, Gráinne S., Chinnery, Patrick F., DiMauro, Salvatore, Hirano, Michio, Koga, Yasutoshi, McFarland, Robert, Suomalainen, Anu, Thorburn, David R., Zeviani, Massimo, Turnbull, Douglass M.

Journal:

Nature Reviews Disease Primers

Year:

2016

Language:

english

File:

PDF, 2.75 MB

english, 2016

2

CoQ10 deficiency diseases in adults

Catarina M. Quinzii, Michio Hirano, Salvatore DiMauro

Journal:

Year:

2007

Language:

english

File:

PDF, 148 KB

english, 2007

3

A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy

Dominic Thyagarajan, Susan Bressman, Claudio Bruno, Serge Przedborski, Sara Shanske, Timothy Lynch, Stanley Fahn, Salvatore DiMauro

Journal:

Annals of Neurology

Year:

2000

Language:

english

File:

PDF, 1.20 MB

english, 2000

4

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

5

Muscle glycogenoses

Salvatore DiMauro, Costanza Lamperti

Journal:

Year:

2001

Language:

english

File:

PDF, 233 KB

english, 2001

6

Approaches to the treatment of mitochondrial diseases

Salvatore DiMauro, Michio Hirano, Eric A. Schon

Journal:

Year:

2006

Language:

english

File:

PDF, 850 KB

english, 2006

7

Beta-oxidation enzymes in normal human muscle and in muscle from a patient with an unusual form of myopathic carnitine deficiency

Dr. Carlo P. Trevisan, Dr. Heinz Reichmann, Dr. Darryl C. DeVivo, Dr. Salvatore DiMauro

Journal:

Year:

1985

Language:

english

File:

PDF, 374 KB

english, 1985

8

Biochemistry and molecular genetics of human glycogenoses: An overview

Salvatore DiMauro, Seiichi Tsujino, Sara Shanske, Lewis P. Rowland

Journal:

Year:

1995

Language:

english

File:

PDF, 916 KB

english, 1995

9

Mitochondrial Disorders in the Nervous System

DiMauro, Salvatore, Schon, Eric A.

Journal:

Annual Review of Neuroscience

Year:

2008

Language:

english

File:

PDF, 873 KB

english, 2008

10

WAR AND NATURE: The Environmental Consequences of War in a Globalized World. By Jurgen Brauer.

Salvatore Engel-DiMáuro

Journal:

Geographical Review

Year:

2011

Language:

english

File:

PDF, 108 KB

english, 2011

11

Mitochondrial Dysfunction as a Neurobiological Subtype of Autism Spectrum Disorder

Goh, Suzanne, Dong, Zhengchao, Zhang, Yudong, DiMauro, Salvatore, Peterson, Bradley S.

Journal:

JAMA Psychiatry

Year:

2014

Language:

english

File:

PDF, 332 KB

english, 2014

12

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

13

Molecular basis of muscle phosphoglycerate mutase (PGAM-M) deficiency in the Italian kindred

Antonio Toscano, Seiichi Tsujino, Giuseppe Vita, Sara Shanske, Corrado Messina, Salvatore DiMauro

Journal:

Year:

1996

Language:

english

File:

PDF, 367 KB

english, 1996

14

Biochemical and genetic studies in a family with mitochondrial myopathy

Terry D. Heiman-Patterson, Zohar Argov, Jeffrey M. Chavin, Bernadette Kalman, Hansjuerg Alder, Salvatore DiMauro, William Bank, Albert J. Tahmoush

Journal:

Year:

1997

Language:

english

File:

PDF, 207 KB

english, 1997

15

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

16

A new mutation in the regulatory domain of the myophosphorylase gene affecting protein dimer contact

Josep Gamez, Roberto Fernandez, Claudio Bruno, Antonio L. Andreu, Carlos Cervera, Carmen Navarro, Simon Schwartz, Salvatore Dimauro

Journal:

Year:

1999

Language:

english

File:

PDF, 84 KB

english, 1999

17

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

18

Metabolic myopathies

Dr. Salvatore DiMauro, Armand F. Miranda, Saburo Sakoda, Eric A. Schon, Serenella Servidei, Sara Shanske, Massimo Zeviani, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1986

Language:

english

File:

PDF, 1.11 MB

english, 1986

19

Mitochondrial DNA mutations in human disease

Salvatore DiMauro, Eric A. Schon

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 182 KB

english, 2001

20

Tissue carnitine in reye syndrome

Dr. Joseph H. Willner, Abe M. Chutorian, Salvatore Dimauro

Journal:

Annals of Neurology

Year:

1978

Language:

english

File:

PDF, 176 KB

english, 1978

21

Inclusion body myositis and myopathies

Dr Robert C. Griggs, Valerie Askanas, Salvatore DiMauro, Andrew Engel, George Karpati, Jerry R. Mendell, Lewis P. Rowland

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 898 KB

english, 1995

22

Mitochondrial DNA and RNA processing in MELAS

Petra Kaufmann, Sara Shanske, Michio Hirano, Salvatore DiMauro, Michael P. King, Yasutoshi Koga, Eric A. Schon

Journal:

Annals of Neurology

Year:

1996

Language:

english

File:

PDF, 896 KB

english, 1996

23

Adult polyglucosan body disease: A case report of a manifesting heterozygote

Eroboghene E. Ubogu, Stacey Tay Kiat Hong, Hasan Orhan Akman, Salvatore Dimauro, Bashar Katirji, David C. Preston, Barbara E. Shapiro

Journal:

Year:

2005

Language:

english

File:

PDF, 184 KB

english, 2005

24

Benign course of glycogen storage disease type IIb in two brothers: Nature or nurture?

Alfred E. Slonim, Linda Bulone, Jennifer Minikes, Arthur P. Hays, Sara Shanske, Seiichi Tsujino, Salvatore DiMauro

Journal:

Year:

2006

Language:

english

File:

PDF, 173 KB

english, 2006

25

Exercise-induced cramp, myoglobinuria, and tubular aggregates in phosphoglycerate mutase deficiency

Shin J. Oh, Kyung-Seok Park, Hewitt F. Ryan Jr., Moris J. Danon, Jiesheng Lu, Ali B. Naini, Salvatore DiMauro

Journal:

Year:

2006

Language:

english

File:

PDF, 314 KB

english, 2006

26

Myopathy and parkinsonism in phosphoglycerate kinase deficiency

Evangelia Sotiriou, Paul Greene, Sindu Krishna, Michio Hirano, Salvatore DiMauro

Journal:

Year:

2010

Language:

english

File:

PDF, 208 KB

english, 2010

27

MERRF and Kearns–Sayre overlap syndrome due to the mitochondrial DNA m.3291T>C mutation

Valentina Emmanuele, David S. Silvers, Evangelia Sotiriou, Kurenai Tanji, Salvatore DiMAURO, Michio Hirano

Journal:

Year:

2011

Language:

english

File:

PDF, 157 KB

english, 2011

28

POLG1 Arg953Cys mutation: Expanded phenotype and recessive inheritance in a Brazilian family

Juliana Gurgel-Giannetti, Sarah Teixeira Camargos, Francisco Cardoso, Michio Hirano, Salvatore DiMauro

Journal:

Year:

2012

Language:

english

File:

PDF, 1.06 MB

english, 2012

29

Adult-onset acid maltase deficiency: A postmortem study

Dr. Salvatore Dimauro, Lawrence Z. Stern, Mark Mehler, Raymond B. Nagle, Claire Payne

Journal:

Year:

1978

Language:

english

File:

PDF, 1.15 MB

english, 1978

30

Dr. Horia Radu

Salvatore DiMauro

Journal:

Year:

1979

Language:

english

File:

PDF, 75 KB

english, 1979

31

Phosphoglycerate kinase deficiency myopathy: Biochemical and immunological studies of the mutant enzyme

Dr. Nereo Bresolin, Dr. Armand Miranda, Dr. Hai Won Chang, Dr. Sara Shanske, Dr. Salvatore DiMauro

Journal:

Year:

1984

Language:

english

File:

PDF, 888 KB

english, 1984

32

Targeting of lysosomal enzymes: N-Acetylglucosamine-1-Phosphotransferase during muscle development

Halina Den, Sara Shanske, Salvatore Dimauro

Journal:

Year:

1986

Language:

english

File:

PDF, 406 KB

english, 1986

33

High serum levels of creatine kinase: Asymptomatic prelude to distal myopathy

Giuliana Galassi, Dr. Lewis P. Rowland, Arthur P. Hays, Salvatore Dimauro, Linton C. Hopkins

Journal:

Year:

1987

Language:

english

File:

PDF, 530 KB

english, 1987

34

Recurrent myoglobinuria and HIV seropositivity: Incidental or pathogenic association?

Dr. David S. Younger, Dr. Arthur P. Hays, Dr. Antonio Uncini, Dr. Dale J. Lange, Dr. Robert E. Lovelace, Dr. Salvatore DiMauro

Journal:

Year:

1989

Language:

english

File:

PDF, 158 KB

english, 1989

35

Polyglucosan body disease

Dr., MD Maureen S. Cafferty, Dr., MD Robert E. Lovelace, Dr., MD Arthur P. Hays, Dr., MD Serenella Servidel, Dr., MD Salvatore Dimauro, Dr., MD Lewis P. Rowland

Journal:

Year:

1991

Language:

english

File:

PDF, 580 KB

english, 1991

36

Adult acid maltase deficiency

Dr. Richard J. Barohn, Dr. April L. McVey, Dr. Salvatore Dimauro, Robert C. Griggs, Jerry R. Mendell, Robert G. Miller

Journal:

Year:

1993

Language:

english

File:

PDF, 430 KB

english, 1993

37

Skeletal muscle mitochondrial myopathy as a cause of exercise intolerance in a horse

Dr. Stephanie J. Valberg, Dr. Gary P. Carlson, Dr. George H. Cardinet III, Dr. Eric K. Birks, Dr. James H. Jones, Dr. Anne Chomyn, Dr. Salvatore DiMauro

Journal:

Year:

1994

Language:

english

File:

PDF, 763 KB

english, 1994

38

Ekbom's syndrome: Lipomas, ataxia, and neuropathy with MERRF

Dr. Peter A. Calabresi, Dr. Gabriella Silvestri, Dr. Salvatore DiMauro, Dr. Robert C. Griggs

Journal:

Year:

1994

Language:

english

File:

PDF, 279 KB

english, 1994

39

Letter to the editor

Shaun T. O'Keeffe, Peter A. Calabresi, Gabriella Silvestri, Salvatore Dimauro, Robert C. Griggs

Journal:

Year:

1995

Language:

english

File:

PDF, 72 KB

english, 1995

40

The molecular genetic basis of myophosphorylase deficiency (McArdle's disease)

Dr. Seiichi Tsujino, Dr. Sara Shanske, Dr. Ikuya Nonaka, Dr. Salvatore DiMauro

Journal:

Year:

1995

Language:

english

File:

PDF, 455 KB

english, 1995

41

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency

Seiichi Tsujino, Sara Shanske, Salvatore DiMauro

Journal:

Year:

1995

Language:

english

File:

PDF, 398 KB

english, 1995

42

Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency

Dr. Seiichi Tsujino, Dr. Sara Shanske, Dr. Saburo Sakoda, Dr. Antonio Toscano, Dr. Salvatore DiMauro

Journal:

Year:

1995

Language:

english

File:

PDF, 357 KB

english, 1995

43

A bootstrap approach to estimate reference intervals of biochemical variables in sheep using reduced sample sizes

Corrado Dimauro, Nicolò P.P. Macciotta, Salvatore P.G. Rassu, Cristiana Patta, Giuseppe Pulina

Journal:

Small Ruminant Research

Year:

2009

Language:

english

File:

PDF, 429 KB

english, 2009

44

Mitochondrial fusion and function in Charcot–Marie–Tooth type 2A patient fibroblasts with mitofusin 2 mutations

Elizabeth A. Amiott, Paul Lott, Jamie Soto, Peter B. Kang, J. Michael McCaffery, Salvatore DiMauro, E. Dale Abel, Kevin M. Flanigan, Victoria H. Lawson, Janet M. Shaw

Journal:

Experimental Neurology

Year:

2008

Language:

english

File:

PDF, 1.80 MB

english, 2008

45

The many faces of mitochondrial diseases

Salvatore DiMauro

Journal:

Year:

2004

Language:

english

File:

PDF, 682 KB

english, 2004

46

Phospholipid abnormalities in children with Barth syndrome

Michael Schlame, Richard I Kelley, Annette Feigenbaum, Jeffrey A Towbin, Paul M Heerdt, Thomas Schieble, Ronald J.A Wanders, Salvatore DiMauro, Thomas J.J Blanck

Journal:

Journal of the American College of Cardiology

Year:

2003

Language:

english

File:

PDF, 105 KB

english, 2003

47

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

48

GLYCOGEN STORAGE MYOPATHIES

Tsujino, Seiichi, Nonaka, Ikuya, DiMauro, Salvatore

Journal:

Neurologic Clinics

Year:

2000

Language:

english

File:

PDF, 1.59 MB

english, 2000

49

The prevention of transmission of mitochondrial DNA mutations using pronuclear transfer

Engelstad, Kristin, Sklerov, Miriam, Sanford, Alexandra, Grier, Johnston, Egli, Dieter, DiMauro, Salvatore, Thompson, John L.P., Sauer, Mark, Hirano, Michio

Journal:

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

50

Mitochondrial myopathy with dystrophic features due to a novel mutation in the MTTM gene

Peverelli, Lorenzo, Gold, Carl A., Naini, Ali B., Tanji, Kurenai, Akman, H. Orhan, Hirano, Michio, Dimauro, Salvatore

Journal:

Year:

2014

Language:

english

File:

PDF, 229 KB

english, 2014

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