Sara Shanske : rechercher sur Z-Library

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

Année:

2000

Langue:

english

Fichier:

PDF, 1.20 MB

english, 2000

Biochemistry and molecular genetics of human glycogenoses: An overview

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 916 KB

english, 1995

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:

Année:

1996

Langue:

english

Fichier:

PDF, 367 KB

english, 1996

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:

Année:

1998

Langue:

english

Fichier:

PDF, 432 KB

english, 1998

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:

Année:

1986

Langue:

english

Fichier:

PDF, 1.11 MB

english, 1986

Mitochondrial DNA and RNA processing in MELAS

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

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 896 KB

english, 1996

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:

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

Année:

2006

Langue:

english

Fichier:

PDF, 173 KB

english, 2006

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

Journal:

Halina Den, Sara Shanske, Salvatore Dimauro

Année:

1984

Langue:

english

Fichier:

PDF, 888 KB

english, 1984

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

Journal:

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

Année:

1986

Langue:

english

Fichier:

PDF, 406 KB

english, 1986

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

Journal:

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

Année:

1995

Langue:

english

Fichier:

PDF, 455 KB

english, 1995

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

Journal:

Seiichi Tsujino, Sara Shanske, Salvatore DiMauro

Année:

1995

Langue:

english

Fichier:

PDF, 357 KB

english, 1995

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency

Journal:

Sara Shanske, Lee-Jun C. Wong

Année:

1995

Langue:

english

Fichier:

PDF, 398 KB

english, 1995

Proposed guidelines for diagnosis of chromosome mosaicism in amniocytes based on data derived from chromosome mosaicism and pseudomosaicism studies

Lillian Y. F. Hsu, Sara Kaffe, Edmund C. Jenkins, Lita Alonso, Peter A. Benn, Karen David, Kurt Hirschhorn, Ernest Lieber, Alan Shanske, Lawrence R. Shapiro, Edward Schutta, Dorothy Warburton

Journal:

Prenatal Diagnosis

Année:

1992

Langue:

english

Fichier:

PDF, 1.07 MB

english, 1992

Molecular analysis for mitochondrial DNA disorders

Journal:

Mitochondrion

Année:

2004

Langue:

english

Fichier:

PDF, 313 KB

english, 2004

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

Année:

1993

Langue:

english

Fichier:

PDF, 678 KB

english, 1993

Mitochondrial etiologies of chronic pseudo-obstruction and dysmotility in children: A 10year follow-up study

Goldstein, Amy, Bay, Carolyn, Sowry, Ellen, McDonald, Lee-Ann, DelVecchio, Maria, Vento, Jodie, Shanske, Sara, Hirano, Michio, DiLorenzo, Carlo

Journal:

Mitochondrion

Année:

2013

Langue:

english

Fichier:

PDF, 71 KB

english, 2013

High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart

Fromenty, Bernard, Carrozzo, Rosalba, Shanske, Sara, Schon, Eric A.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 668 KB

english, 1997

Two cases of prenatal analysis for the pathogenic T to G substitution at nucleotide 8993 in mitochondrial DNA

Sarah L. White, Sara Shanske, Ivan Biros, Linda Warwick, Henrik M. Dahl, David R. Thorburn, Salvatore Di Mauro

Journal:

Prenatal Diagnosis

Année:

1999

Langue:

english

Fichier:

PDF, 83 KB

english, 1999

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:

Human Mutation

Année:

1996

Langue:

english

Fichier:

PDF, 525 KB

english, 1996

Leigh syndrome and hypertrophic cardiomyopathy in an infant with a mitochondrial DNA point mutation (T8993G)

Gregory M. Pastores, Filippo M. Santorelli, Sara Shanske, Bruce D. Gelb, Billie Fyfe, David Wolfe, Judith P. Willner

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 696 KB

english, 1994

Mitochondrial myopathy with anemia, cardiomyopathy, and lactic acidosis: A distinct late onset mitochondrial disorder

Johan L. K. Van Hove, Sara Shanske, Federica Ciacci, Scott Ballinger, John S. Shoffner, Douglas C. Wallace, Takashi Hanioka, Karl Folkers, Edward H. Bossen, Peter S. Kussin, Jeffrey M. Kopita, Stephen

Journal:

Année:

1994

Langue:

english

Fichier:

PDF, 930 KB

english, 1994

Myopathy, lactic acidosis, and sideroblastic anemia: A new syndrome

Aida Inbal, Nelly Avissar, Mati Shaklai, Arieh Kuritzky, Abel Schejter, Eitan Ben-David, Sara Shanske, Ben-Zion Garty

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 830 KB

english, 1995

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:

Année:

2004

Langue:

english

Fichier:

PDF, 102 KB

english, 2004

Mutations in GJB2, GJB6, and mitochondrial DNA are rare in African American and Caribbean Hispanic individuals with hearing impairment

Joy Samanich, Christina Lowes, Robert Burk, Sara Shanske, J. Lu, Alan Shanske, Bernice E. Morrow

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 274 KB

english, 2007

Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS

Mahsa Mehrazin, Sara Shanske, Petra Kaufmann, Ying Wei, Jorida Coku, Kristin Engelstad, Ali Naini, Darryl C. De Vivo, Salvatore DiMauro

Journal:

Année:

2009

Langue:

english

Fichier:

PDF, 144 KB

english, 2009

The proximal chromosome 14q microdeletion syndrome: Delineation of the phenotype using high resolution SNP oligonucleotide microarray analysis (SOMA) and review of the literature

Edina Torgyekes, Alan L. Shanske, Kwame Anyane-Yeboa, Odelia Nahum, Sara Pirzadeh, Einat Blumfield, Vaidehi Jobanputra, Dorothy Warburton, Brynn Levy

Journal:

Massimiliano Filosto, Michelangelo Mancuso, Cristofol Vives-Bauza, Maya R. Vilà, Sara Shanske, Michio Hirano, Antoni L. Andreu, Salvatore DiMauro

Année:

2011

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2011

Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies

Journal:

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

Année:

2003

Langue:

english

Fichier:

PDF, 49 KB

english, 2003

McArdle's disease: Biochemical and molecular genetic studies

Journal:

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

Année:

1988

Langue:

english

Fichier:

PDF, 810 KB

english, 1988

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

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 477 KB

english, 1991

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:

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

Année:

1993

Langue:

english

Fichier:

PDF, 856 KB

english, 1993

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

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 729 KB

english, 1993

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:

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

Année:

1994

Langue:

english

Fichier:

PDF, 560 KB

english, 1994

Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients

Journal:

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

Année:

1994

Langue:

english

Fichier:

PDF, 557 KB

english, 1994

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

Journal: