Dr. Salvatore DiMauro: search on Z-Library

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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

Glycogen debrancher deficiency is reproduced in muscle culture

Armand F. Miranda, Dr. Salvatore DiMauro, Adriane Antler, Lewis P. Rowland, Lawrence Z. Stern

Journal:

Annals of Neurology

Year:

1981

Language:

english

File:

PDF, 721 KB

english, 1981

16

Glycogen branching enzyme deficiency in adult polyglucosan body disease

Claudio Bruno, Serenella Servidei, Sara Shanske, George Karpati, Stirling Carpenter, David McKee, Richard J. Barohn, Michio Hirano, Ziad Rifai, Dr. Salvatore Dimauro

Journal:

Annals of Neurology

Year:

1993

Language:

english

File:

PDF, 856 KB

english, 1993

17

Mitochondrial DNA deletion in a girl with manifestations of Kearns-Sayre and Lowe syndromes: An example of phenotypic mimicry?

Carlos T. Moraes, Massimo Zeviani, Eric A. Schon, Robert O. Hickman, Brien W. Vlcek, Dr. Salvatore DiMauro

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 582 KB

english, 1991

18

The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome

Filippo M. Santorelli, Sara Shanske, Alfons Macaya, Darryl C. DeVivo, Dr. Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1993

Language:

english

File:

PDF, 729 KB

english, 1993

19

A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina)

Seiichi Tsujino, Paola Tonin, Sara Shanske, Virinder Nohria, Rose-Mary Boustany, Darrell Lewis, Yuan-Tuong Chen, Dr. Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 560 KB

english, 1994

20

Cytochrome c oxidase deficiency in leigh syndrome

Dr Salvatore DiMauro, Serenella Servidei, Massimo Zeviani, Maja DiRocco, Darryl C. DeVivo, Stefano DiDonato, Graziella Uziel, Kenneth Berry, George Hoganson, Stanley D. Johnsen, Peter C. Johnson

Journal:

Annals of Neurology

Year:

1987

Language:

english

File:

PDF, 1.08 MB

english, 1987

21

Fatal infantile mitochondrial myopathy and renal dysfunction caused by cytochrome c oxidase deficiency: Immunological studies in a new patient

Massimo Zeviani, Ikuya Nonaka, Euardo Bonilla, Eizo Okino, Dr Maurizio Moggio, Sara Jones, DR Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1985

Language:

english

File:

PDF, 628 KB

english, 1985

22

Varying loads of the mitochondrial DNA A3243G mutation in different tissues: Implications for diagnosis

Sara Shanske, Jacklyn Pancrudo, Petra Kaufmann, Kristin Engelstad, Sarah Jhung, Jiesheng Lu, Ali Naini, Dr. Salvatore DiMauro, Darryl C. De Vivo

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 102 KB

english, 2004

23

A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis

Dominic Thyagarajan, Sara Shanske, Marta Vazquez -Memije, Darryl Devivo, Dr Salvatore Dimauro

Journal:

Annals of Neurology

Year:

1995

Language:

english

File:

PDF, 550 KB

english, 1995

24

Benign infantile mitochondrial myopathy due to reversible cytochrome c oxidase deficiency

Dr. Salvatore Dimauro, John F. Nicholson, Arthur P. Hays, Abraham B. B, Alexandros Papadimitriou, Richard Koenigsberger, Darryl C. Devivo

Journal:

Annals of Neurology

Year:

1983

Language:

english

File:

PDF, 3.06 MB

english, 1983

25

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

26

McArdle's disease: Biochemical and molecular genetic studies

Serenella Servidei, Sara Shanske, Massimo Zeviani, Roger Lebo, Robert Fletterick, Dr. Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1988

Language:

english

File:

PDF, 810 KB

english, 1988

27

Kearns-sayre syndrome with reduced plasma and cerebrospinal fluid folate

Dr Richard J. Allen, Salvatore DiMauro, David L. Coulter, Alexander Papadimitriou, Sheldon P. Rothenberg

Journal:

Annals of Neurology

Year:

1983

Language:

english

File:

PDF, 497 KB

english, 1983

28

Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients

Seiichi Tsujino, Sara Shanske, A. Keith W. Brownell, Ronald G. Haller, Dr. Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1994

Language:

english

File:

PDF, 557 KB

english, 1994

29

Deletion of mitochondrial DNA in patients with combined features of kearns-sayre and MELAS syndromes

Dr Mary L. Zupanc, Carlos T. Moraes, Sara Shanske, Craig B. Langman, Emma Ciafaloni, Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1991

Language:

english

File:

PDF, 477 KB

english, 1991

30

Mitochondrial myopathy, encephalopathy, lactic acidosis, and strokelike episodes: A distinctive clinical syndrome

Steven G. Pavlakis, Peter C. Phillips, Salvatore DiMauro, Dr. Darryl C. De Vivo, Lewis P. Rowland

Journal:

Annals of Neurology

Year:

1984

Language:

english

File:

PDF, 1.05 MB

english, 1984

31

The adult form of acid maltase (α-1,4-glucosidase) deficiency

Dr. George Karpatid, Stirling Carpenter, Andrew Eisen, Michel Aubé, Salvatore DiMauro

Journal:

Annals of Neurology

Year:

1977

Language:

english

File:

PDF, 646 KB

english, 1977

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