Works by Shanske, Sara

Results: 41

Mutation in an mtDNA Protein-Coding Gene: Prenatal Diagnosis Aided by Fetal Muscle Biopsy.

Published in:

Journal of Child Neurology, 2013, v. 28, n. 2, p. 264, doi. 10.1177/0883073812441067

By:

Shanske, Sara;
Naini, Ali;
Chmait, Ramen H.;
Akman, Hasan O.;
Mansukhani, Mahesh;
Lu, Jiesheng;
Hirano, Michio;
DiMauro, Salvatore

Publication type:

Article

Mitochondrial Encephalomyopathy Due to a Novel Mutation in the tRNA<sup>Glu</sup> of Mitochondrial DNA.

Published in:

Journal of Child Neurology, 2007, v. 22, n. 7, p. 858, doi. 10.1177/0883073807304199

By:

Pancrudo, Jacklyn;
Shanske, Sara;
Bonilla, Eduardo;
Daras, Mariza;
Akman, Hasan O.;
Krishna, Sindu;
Malkin, Elfrida;
Dimauro, Salvatore

Publication type:

Article

Unusual Clinical Presentations in Four Cases of Leigh Disease, Cytochrome C Oxidase Deficiency, and SURF1 Gene Mutations.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 8, p. 670, doi. 10.1177/08830738050200080701

By:

Tay, Stacey K. H.;
Sacconi, Sabrina;
Akman, H. Ohran;
Morales, Judith F.;
Morales, Augusto;
de Vivo, Darryl C.;
Shanske, Sara;
Bonilla, Eduardo;
diMauro, Salvatore

Publication type:

Article

Clinical and Genetic Features in Two Families With MELAS and the T3271C Mutation in Mitochondrial DNA.

Published in:

Journal of Child Neurology, 2005, v. 20, n. 2, p. 142, doi. 10.1177/08830738050200022301

By:

Tay, Stacey K. H.;
Shanske, Sara;
Crowe, Carol;
Shanske, Alan;
Schafer, Irwin;
Pancrudo, Jacklyn;
Lu, Jiesheng;
Bonilla, Eduardo;
DiMauro, Salvatore

Publication type:

Article

Mitochondrial DNA Deletion in a Child With Megaloblastic Anemia and Recurrent Encephalopathy.

Published in:

Journal of Child Neurology, 2004, v. 19, n. 4, p. 258, doi. 10.1177/088307380401900403

By:

Akman, Cigdem Inan;
Sue, Carolyn M.;
Shanske, Sara;
Tanji, Kurenai;
Bonilla, Eduardo;
Ojaimi, Joceline;
Krishna, Sindu;
Schubert, Romaine;
DiMauro, Salvatore

Publication type:

Article

G8363A Mutation in the Mitochondrial DNA Transfer Ribonucleic AcidLys Gene: Another Cause of...

Published in:

Journal of Child Neurology, 2000, v. 15, n. 11, p. 759

By:

Shtilbans, Alexander;
Shanske, Sara;
Goodman, Svetlana;
Sue, Carolyn M.;
Bruno, Claudio;
Johnson, Theodore L.;
Lava, Neil S.;
Waheed, Nasir;
DiMauro, Salvatore

Publication type:

Article

A Novel Mutation in the Mitochondrial DNA Transfer Ribonucleic Acid[sup Asp] Gene in a Child With...

Published in:

Journal of Child Neurology, 1999, v. 14, n. 9, p. 610

By:

Shtilbans, Alexander;
El-Schahawi, Magda;
Malkin, Elfrida;
Shanske, Sara;
Musumeci, Olimpia;
DiMauro, Salvatore

Publication type:

Article

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

Published in:

Annals of Neurology, 2003, v. 54, n. 4, p. 524

By:

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

Publication type:

Article

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

Published in:

Annals of Neurology, 2000, v. 48, n. 5, p. 730, doi. 10.1002/1531-8249(200011)48:5<730::AID-ANA6>3.0.CO;2-0

By:

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

Publication type:

Article

Mitochondrial DNA and RNA processing in MELAS.

Published in:

Annals of Neurology, 1996, v. 40, n. 2, p. 172, doi. 10.1002/ana.410400208

By:

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

Publication type:

Article

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

Published in:

Annals of Neurology, 1995, v. 38, n. 3, p. 468, doi. 10.1002/ana.410380321

By:

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

Publication type:

Article

Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients.

Published in:

Annals of Neurology, 1994, v. 36, n. 4, p. 661, doi. 10.1002/ana.410360418

By:

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

Publication type:

Article

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

Published in:

Annals of Neurology, 1994, v. 35, n. 3, p. 349, doi. 10.1002/ana.410350316

By:

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

Publication type:

Article

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

Published in:

Annals of Neurology, 1993, v. 34, n. 6, p. 827, doi. 10.1002/ana.410340612

By:

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

Publication type:

Article

Glycogen branching enzyme deficiency in adult polyglucosan body disease.

Published in:

Annals of Neurology, 1993, v. 33, n. 1, p. 88, doi. 10.1002/ana.410330114

By:

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

Publication type:

Article

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

Published in:

Annals of Neurology, 1991, v. 29, n. 6, p. 680, doi. 10.1002/ana.410290619

By:

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

Publication type:

Article

McArdle's disease: Biochemical and molecular genetic studies.

Published in:

Annals of Neurology, 1988, v. 24, n. 6, p. 774, doi. 10.1002/ana.410240612

By:

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

Publication type:

Article

Mitochondrial dysfunction in mut methylmalonic acidemia.

Published in:

FASEB Journal, 2009, v. 23, n. 4, p. 1252, doi. 10.1096/fj.08-121848

By:

Chandler, Randy J.;
Zerfas, Patricia M.;
Shanske, Sara;
Sloan, Jennifer;
Hoffmann, Victoria;
DiMauro, Salvatore;
Venditti, Charles P.

Publication type:

Article

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

Published in:

1998

By:

Sciacco, Monica;
Gasparo-Rippa, Pasquale;
Vu, Tuan H.;
Tanji, Kurenai;
Shanske, Sara;
Mendell, Jerry R.;
Schon, Eric A.;
DiMauro, Salvatore;
Bonilla, Eduardo;
Sciacco, M;
Gasparo-Rippa, P;
Vu, T H;
Tanji, K;
Shanske, S;
Mendell, J R;
Schon, E A;
DiMauro, S;
Bonilla, E

Publication type:

journal article

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

Published in:

1996

By:

Toscano, Antonio;
Tsujino, Seiichi;
Vita, Giuseppe;
Shanske, Sara;
Messina, Corrado;
DiMauro, Salvatore;
Toscano, A;
Tsujino, S;
Vita, G;
Shanske, S;
Messina, C;
Dimauro, S

Publication type:

journal article

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

Published in:

Muscle & Nerve, 1995, v. 18, n. S14, p. S50, doi. 10.1002/mus.880181412

By:

Tsujino, Seiichi;
Shanske, Sara;
Sakoda, Saburo;
Toscano, Antonio;
DiMauro, Salvatore

Publication type:

Article

Biochemistry and molecular genetics of human glycogenoses: An overview.

Published in:

Muscle & Nerve, 1995, v. 18, n. S14, p. S10, doi. 10.1002/mus.880181405

By:

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

Publication type:

Article

Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.

Published in:

Muscle & Nerve, 1995, v. 18, n. S14, p. S45, doi. 10.1002/mus.880181411

By:

Tsujino, Seiichi;
Shanske, Sara;
DiMauro, Salvatore

Publication type:

Article

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

Published in:

Muscle & Nerve, 1995, v. 18, n. S14, p. S23, doi. 10.1002/mus.880181407

By:

Tsujino, Seiichi;
Shanske, Sara;
Nonaka, Ikuya;
DiMauro, Salvatore

Publication type:

Article

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

Published in:

Muscle & Nerve, 1986, v. 9, n. 3, p. 261, doi. 10.1002/mus.880090311

By:

Den, Halina;
Shanske, Sara;
Dimauro, Salvatore

Publication type:

Article

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

Published in:

Muscle & Nerve, 1984, v. 7, n. 7, p. 542, doi. 10.1002/mus.880070705

By:

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

Publication type:

Article

Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.

Published in:

Nature Genetics, 1999, v. 23, n. 3, p. 333, doi. 10.1038/15513

By:

Papadopoulou, Lefkothea C.;
Sue, Carolyn M.;
Davidson, Mercy M.;
Tanji, Kurenai;
Nishino, Ichizo;
Sadlock, James E.;
Krishna, Sindu;
Walker, Winsome;
Selby, Jeanette;
Glerum, D. Moira;
Coster, Rudy Van;
Lyon, Gilles;
Scalais, Emmanuel;
Lebel, Roger;
Kaplan, Paige;
Shanske, Sara;
De Vivo, Darryl C.;
Bonilla, Eduardo;
Hirano, Michio

Publication type:

Article

Early Onset of Diabetes Mellitus Associated with the Mitochondrial DNA T14709C Point Mutation: Patient Report and Literature Review.

Published in:

Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 2, p. 207, doi. 10.1515/jpem.1999.12.2.207

By:

Elizabeth Damore, Mary;
Speiser, Phyllis W.;
Slonim, Alfred E.;
New, Maria I.;
Shanske, Sara;
Xia, Wenlang;
Santorelli, Filippo M.;
DiMauro, Salvatore

Publication type:

Article

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy.

Published in:

Brain: A Journal of Neurology, 2009, v. 132, n. 11, p. 3165, doi. 10.1093/brain/awp221

By:

Horvath, Rita;
Kemp, John P.;
Tuppen, Helen A. L.;
Hudson, Gavin;
Oldfors, Anders;
Marie, Suely K. N.;
Moslemi, Ali-Reza;
Servidei, Serenella;
Holme, Elisabeth;
Shanske, Sara;
Kollberg, Gittan;
Jayakar, Parul;
Pyle, Angela;
Marks, Harold M.;
Holinski-Feder, Elke;
Scavina, Mena;
Walter, Maggie C.;
Çoku, Jorida;
Günther-Scholz, Andrea;
Smith, Paul M.

Publication type:

Article

Maternally Inherited Mitochondrial Cardiomyopathy Associated with a C-to-T Transition at Nucleotide 3303 of Mitochondrial DNA in the tRNA Gene.

Published in:

Pediatric & Developmental Pathology, 1999, v. 2, n. 1, p. 78, doi. 10.1007/s100249900094

By:

Goldstein, Jeffrey D.;
Shanske, Sara;
Bruno, Claudio;
Perszyk, Anthony A.

Publication type:

Article

Identification of a mutation in the mitochondrial tRNA<sup>Cys</sup> gene associated with mitochondrial encephalopathy.

Published in:

Human Mutation, 1996, v. 7, n. 2, p. 158, doi. 10.1002/(SICI)1098-1004(1996)7:2<158::AID-HUMU12>3.0.CO;2-1

By:

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

Publication type:

Article

Two novel missense mutations (E654K, L396P) in caucasian patients with myophosphorylase deficiency (McArdle's disease).

Published in:

Human Mutation, 1995, v. 6, n. 3, p. 276, doi. 10.1002/humu.1380060318

By:

Tsujino, Seiichi;
Shanske, Sara;
Martinuzzi, Andrea;
Heiman-Patterson, Terry;
DiMauro, Salvatore

Publication type:

Article

An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).

Published in:

Human Mutation, 1994, v. 4, n. 1, p. 73, doi. 10.1002/humu.1380040113

By:

Tsujino, Seiichi;
Rubin, Laurence A.;
Shanske, Sara;
DiMauro, Salvatore

Publication type:

Article

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

Published in:

Prenatal Diagnosis, 1999, v. 19, n. 12, p. 1165, doi. 10.1002/(SICI)1097-0223(199912)19:12<1165::AID-PD719>3.0.CO;2-D

By:

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

Publication type:

Article

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

Published in:

Nature, 2000, v. 406, n. 6798, p. 906, doi. 10.1038/35022604

By:

Nishino, Ichizo;
Fu, Jin;
Tanji, Kurenai;
Yamada, Takeshi;
Shimojo, Sadatomo;
Koori, Tateo;
Mora, Marina;
Riggs, Jack E.;
Oh, Shin J.;
Koga, Yasutoshi;
Sue, Carolyn M.;
Yamamoto, Ayaka;
Murakami, Nobuyuki;
Shanske, Sara;
Byrne, Edwared;
Bonilla, Eduardo;
Nonaka, Ikuya;
DiMauro, Salvatore;
Hirano, Michio

Publication type:

Article

Study of Mitochondrial DNA Mutations in Patients With Migraine With Prolonged Aura.

Published in:

Headache: The Journal of Head & Face Pain, 2004, v. 44, n. 7, p. 674, doi. 10.1111/j.1526-4610.2004.04126.x

By:

Rozen, Todd R.;
Shanske, Sara;
Otaegui, David;
Jiesheng Lu;
Young, William B.;
Bradley, Kathy;
DiMauro, Salvatore;
Silberstein, Stephen D.

Publication type:

Article

Achalasia as the harbinger of a novel mitochondrial disorder in childhood.

Published in:

2005

By:

Chelimsky, Gisela;
Shanske, Sara;
Hirano, Michio;
Zinn, Arthur B;
Cohen, Mark;
McNeeley, Kevin;
Chelimsky, Thomas C

Publication type:

journal article

A functionally dominant mitochondrial DNA mutation.

Published in:

Human Molecular Genetics, 2008, v. 17, n. 12, p. 1814, doi. 10.1093/hmg/ddn073

By:

Sacconi, Sabrina;
Salviati, Leonardo;
Nishigaki, Yutaka;
Walker, Winsome F.;
Hernandez-Rosa, Evelyn;
Trevisson, Eva;
Delplace, Severine;
Desnuelle, Claude;
Shanske, Sara;
Hirano, Michio;
Schon, Eric A.;
Bonilla, Eduardo;
De Vivo, Darryl C.;
DiMauro, Salvatore;
Davidson, Mercy M.

Publication type:

Article

Mitochondrial Encephalomyopathies: Defects of Nuclear DNA.

Published in:

Brain Pathology, 1992, v. 2, n. 2, p. 159, doi. 10.1111/j.1750-3639.1992.tb00684.x

By:

Shanske, Sara

Publication type:

Article

Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.

Published in:

Human Molecular Genetics, 1994, v. 3, n. 6, p. 1005

By:

Tsujino, Seiichi;
Shanske, Sara;
Goto, Yu-ichi;
Nonaka, Ikuya;
DiMauro, Salvatore

Publication type:

Article

Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.

Published in:

2008

By:

Van Hove, Johan L. K.;
Freehauf, Cynthia;
Miyamoto, Shelley;
Vladutiu, Georgirene D.;
Pancrudo, Jacklyn;
Bonilla, Eduardo;
Lovell, Mark A.;
Mierau, Gary W.;
Thomas, Janet A.;
Shanske, Sara

Publication type:

journal article