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Sara Shanske

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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TOP 3
Mehrazin Mahsa; Shanske Sara; Kaufmann Petra; Wei Ying; Coku Jorida; Engelstad Kristin; Naini Ali; De Vivo Darryl C; DiMauro Salvatore
Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.
Rohrbach M; Chitayat D; Maegawa G; Shanske S; Davidzon G; Chong K; Clarke J T R; Toi A; Tarnopolsky M; Robinson B; Blaser S
Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.
Spinazzola Antonella; Santer René; Akman Orhan H; Tsiakas Kostas; Schaefer Hansjoerg; Ding Xiaoqi; Karadimas Charalampos L; Shanske Sara; Ganesh Jaya; Di Mauro Salvatore; Zeviani Massimo
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.

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All Publications

2009: Mehrazin Mahsa; Shanske Sara; Kaufmann Petra; Wei Ying; Coku Jorida; Engelstad Kristin; Naini Ali; De Vivo Darryl C; DiMauro Salvatore
Longitudinal changes of mtDNA A3243G mutation load and level of functioning in MELAS.
American journal of medical genetics. Part A 2009;149A(4):584-7.
2009: Rohrbach M; Chitayat D; Maegawa G; Shanske S; Davidzon G; Chong K; Clarke J T R; Toi A; Tarnopolsky M; Robinson B; Blaser S
Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.
Fetal diagnosis and therapy 2009;25(2):177-82.
2008: Spinazzola Antonella; Santer René; Akman Orhan H; Tsiakas Kostas; Schaefer Hansjoerg; Ding Xiaoqi; Karadimas Charalampos L; Shanske Sara; Ganesh Jaya; Di Mauro Salvatore; Zeviani Massimo
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Archives of neurology 2008;65(8):1108-13.
2008: Tanji Kurenai; Kaufmann Petra; Naini Ali B; Lu Jiesheng; Parsons Timothy C; Wang Dong; Willey Joshua Z; Shanske Sara; Hirano Michio; Bonilla Eduardo; Khandji Alexander; Dimauro Salvatore; Rowland Lewis P
A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.
Journal of the neurological sciences 2008;270(1-2):23-7.
2008: 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
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.
European journal of pediatrics 2008;167(7):771-6.
2008: Bornstein Belén; Area Estela; Flanigan Kevin M; Ganesh Jaya; Jayakar Parul; Swoboda Kathryn J; Coku Jorida; Naini Ali; Shanske Sara; Tanji Kurenai; Hirano Michio; DiMauro Salvatore
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
Neuromuscular disorders : NMD 2008;18(6):453-9.
2008: 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
A functionally dominant mitochondrial DNA mutation.
Human molecular genetics 2008;17(12):1814-20.
2008: Shanske Sara; Coku Jorida; Lu Jiesheng; Ganesh Jaya; Krishna Sindu; Tanji Kurenai; Bonilla Eduardo; Naini Ali B; Hirano Michio; DiMauro Salvatore
The G13513A mutation in the ND5 gene of mitochondrial DNA as a common cause of MELAS or Leigh syndrome: evidence from 12 cases.
Archives of neurology 2008;65(3):368-72.
2007: Akman Hasan O; Sampayo James N; Ross Fiona A; Scott John W; Wilson Gregory; Benson Lee; Bruno Claudio; Shanske Sara; Hardie D Grahame; Dimauro Salvatore
Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the gamma2-subunit of AMP-activated protein kinase.
Pediatric research 2007;62(4):499-504.
2007: Pancrudo Jacklyn; Shanske Sara; Coku Jorida; Lu J; Mardach Rebecca; Akman Orhan; Krishna Sindu; Bonilla Eduardo; DiMauro Salvatore
Mitochondrial myopathy associated with a novel mutation in mtDNA.
Neuromuscular disorders : NMD 2007;17(8):651-4.
2007: Pancrudo Jacklyn; Shanske Sara; Bonilla Eduardo; Daras Mariza; Akman Hasan O; Krishna Sindu; Malkin Elfrida; DiMauro Salvatore
Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
Journal of child neurology 2007;22(7):858-62.
2007: Naini Ali; Shanske Sara
Detection of mutations in mtDNA.
Methods in cell biology 2007;80():437-63.
2006: Oskoui Maryam; Davidzon Guido; Pascual Juan; Erazo Ricardo; Gurgel-Giannetti Juliana; Krishna Sindu; Bonilla Eduardo; De Vivo Darryl C; Shanske Sara; DiMauro Salvatore
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
Archives of neurology 2006;63(8):1122-6.
2005: Tay Stacey K H; Sacconi Sabrina; Akman H Ohran; Morales Judith F; Morales Augusto; De Vivo Darryl C; Shanske Sara; Bonilla Eduardo; DiMauro Salvatore
Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations.
Journal of child neurology 2005;20(8):670-4.
2005: Naini Ali; Kaufmann Petra; Shanske Sara; Engelstad Kristin; De Vivo Darryl C; Schon Eric A
Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox".
Journal of the neurological sciences 2005;229-230():187-93.
2005: Tay Stacey K H; Shanske Sara; Crowe Carol; Shanske Alan; Schafer Irwin; Pancrudo Jacklyn; Lu Jiesheng; Bonilla Eduardo; DiMauro Salvatore
Clinical and genetic features in two families with MELAS and the T3271C mutation in mitochondrial DNA.
Journal of child neurology 2005;20(2):142-6.
2004: Tay Stacey K H; Nesti Claudia; Mancuso Michelangelo; Schon Eric A; Shanske Sara; Bonilla Eduardo; Davidson Mercy M; Dimauro Salvatore
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
Archives of neurology 2004;61(12):1935-7.
2004: Shanske Sara; Pancrudo Jacklyn; Kaufmann Petra; Engelstad Kristin; Jhung Sarah; Lu Jiesheng; Naini Ali; DiMauro Salvatore; De Vivo Darryl C
Varying loads of the mitochondrial DNA A3243G mutation in different tissues: implications for diagnosis.
American journal of medical genetics. Part A 2004;130A(2):134-7.
2004: Shanske Sara; Wong Lee-Jun C
Molecular analysis for mitochondrial DNA disorders.
Mitochondrion 2004;4(5-6):403-15.
2004: Tay Stacey K H; Shanske Sara; Kaplan Paige; DiMauro Salvatore
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
Archives of neurology 2004;61(6):950-2.
2004: Akman Cigdem Inan; Sue Carolyn M; Shanske Sara; Tanji Kurenai; Bonilla Eduardo; Ojaimi Joceline; Krishna Sindu; Schubert Romaine; DiMauro Salvatore
Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.
Journal of child neurology 2004;19(4):258-61.
2004: Kaufmann P; Shungu D C; Sano M C; Jhung S; Engelstad K; Mitsis E; Mao X; Shanske S; Hirano M; DiMauro S; De Vivo D C
Cerebral lactic acidosis correlates with neurological impairment in MELAS.
Neurology 2004;62(8):1297-302.
2004: Tay Stacey K H; Akman Hasan O; Chung Wendy K; Pike Michael G; Muntoni Francesco; Hays Arthur P; Shanske Sara; Valberg Stephanie J; Mickelson James R; Tanji Kurenai; DiMauro Salvatore
Fatal infantile neuromuscular presentation of glycogen storage disease type IV.
Neuromuscular disorders : NMD 2004;14(4):253-60.
2004: Venditti C P; Harris M C; Huff D; Peterside I; Munson D; Weber H S; Rome J; Kaye E M; Shanske S; Sacconi S; Tay S; DiMauro S; Berry G T
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.
Journal of inherited metabolic disease 2004;27(6):735-9.
2003: Mancuso Michelangelo; Filosto Massimiliano; Tsujino Seiichi; Lamperti Costanza; Shanske Sara; Coquet Michéle; Desnuelle Claude; DiMauro Salvatore
Muscle glycogenosis and mitochondrial hepatopathy in an infant with mutations in both the myophosphorylase and deoxyguanosine kinase genes.
Archives of neurology 2003;60(10):1445-7.
2003: Filosto Massimiliano; Mancuso Michelangelo; Vives-Bauza Cristofol; Vilà Maya R; Shanske Sara; Hirano Michio; Andreu Antoni L; DiMauro Salvatore
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.
Annals of neurology 2003;54(4):524-6.
2003: Filosto Massimiliano; Mancuso Michelangelo; Nishigaki Yutaka; Pancrudo Jacklyn; Harati Yadollah; Gooch Clifton; Mankodi Ami; Bayne Lydia; Bonilla Eduardo; Shanske Sara; Hirano Michio; DiMauro Salvatore
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
Archives of neurology 2003;60(9):1279-84.
2003: Mancuso Michelangelo; Filosto Massimiliano; Bonilla Eduardo; Hirano Michio; Shanske Sara; Vu Tuan H; DiMauro Salvatore
Mitochondrial myopathy of childhood associated with mitochondrial DNA depletion and a homozygous mutation (T77M) in the TK2 gene.
Archives of neurology 2003;60(7):1007-9.
2003: Mancuso Michelangelo; Filosto Massimiliano; Stevens J Clarke; Patterson Marc; Shanske Sara; Krishna Sindu; DiMauro Salvatore
Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene.
Journal of the neurological sciences 2003;209(1-2):61-3.
2003: Sacconi Sabrina; Salviati Leonardo; Sue Carolyn M; Shanske Sara; Davidson Mercy M; Bonilla Eduardo; Naini Ali B; De Vivo Darryl C; DiMauro Salvatore
Mutation screening in patients with isolated cytochrome c oxidase deficiency.
Pediatric research 2003;53(2):224-30.
2003: Nasr Samih H; Corey Howard; Shanske Sara; Pancrudo Jacklyn; Kaufmann Petra; Markowitz Glen S; DiMauro Salvatore; D'Agati Vivette D
A 14-year-old male with asymptomatic proteinuria and hearing loss.
American journal of kidney diseases : the official journal of the National Kidney Foundation 2003;41(1):259-64.
2002: Karadimas Charalampos L; Salviati Leonardo; Sacconi Sabrina; Chronopoulou Penelope; Shanske Sara; Bonilla Eduardo; De Vivo Darryl C; DiMauro Salvatore
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.
Neuromuscular disorders : NMD 2002;12(9):865-8.
2002: Hadjigeorgiou Georgios M; Sadeh Menachem; Musumeci Olimpia; Dabby Ron; De Girolami Laura; Naini Ali; Papadimitriou Alexandros; Shanske Sara; DiMauro Salvatore
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.
Neuromuscular disorders : NMD 2002;12(9):824-7.
2002: Shanske Sara; Tang Yingying; Hirano Michio; Nishigaki Yutaka; Tanji Kurenai; Bonilla Eduardo; Sue Carolyn; Krishna Sindu; Carlo Jose R; Willner Judith; Schon Eric A; DiMauro Salvatore
Identical mitochondrial DNA deletion in a woman with ocular myopathy and in her son with pearson syndrome.
American journal of human genetics 2002;71(3):679-83.
2002: Sacconi Sabrina; Salviati Leonardo; Gooch Clifton; Bonilla Eduardo; Shanske Sara; DiMauro Salvatore
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
Archives of neurology 2002;59(6):1013-5.
2002: 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 Salvatore
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
Archives of neurology 2002;59(5):862-5.
2002: Nishigaki Y; Bonilla E; Shanske S; Gaskin D A; DiMauro S; Hirano M
Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).
Neurology 2002;58(8):1282-5.
2002: Hadjigeorgiou Georgios M; Papadimitriou Alexandros; Musumeci Olimpia; Paterakis Konstantinos; Flabouriari Konstantina; Shanske Sara; DiMauro Salvatore
A new stop codon mutation (Y52X) in the myophosphorylase gene in a Greek patient with McArdle's disease.
Journal of the neurological sciences 2002;194(1):83-6.
2002: Schon Eric A; Naini Ali; Shanske Sara
Identification of mutations in mtDNA from patients suffering mitochondrial diseases.
Methods in molecular biology (Clifton, N.J.) 2002;197():55-74.
2001: Karadimas C; Tanji K; Geremek M; Chronopoulou P; Vu T; Krishna S; Sue C M; Shanske S; Bonilla E; DiMauro S; Lipson M; Bachman R
A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.
Journal of child neurology 2001;16(7):531-3.
2001: Raben N; Danon M; Lu N; Lee E; Shliselfeld L; Skurat A V; Roach P J; Lawrence J C; Musumeci O; Shanske S; DiMauro S; Plotz P
Surprises of genetic engineering: a possible model of polyglucosan body disease.
Neurology 2001;56(12):1739-45.
2001: Musumeci O; Naini A; Slonim A E; Skavin N; Hadjigeorgiou G L; Krawiecki N; Weissman B M; Tsao C Y; Mendell J R; Shanske S; De Vivo D C; Hirano M; DiMauro S
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.
Neurology 2001;56(7):849-55.
2000: Shtilbans A; Shanske S; Goodman S; Sue C M; Bruno C; Johnson T L; Lava N S; Waheed N; DiMauro S
G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
Journal of child neurology 2000;15(11):759-61.
2000: Karadimas C L; Greenstein P; Sue C M; Joseph J T; Tanji K; Haller R G; Taivassalo T; Davidson M M; Shanske S; Bonilla E; DiMauro S
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.
Neurology 2000;55(5):644-9.
2000: Andreu A L; Checcarelli N; Iwata S; Shanske S; DiMauro S
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.
Pediatric research 2000;48(3):311-4.
2000: Musumeci O; Andreu A L; Shanske S; Bresolin N; Comi G P; Rothstein R; Schon E A; DiMauro S
Intragenic inversion of mtDNA: a new type of pathogenic mutation in a patient with mitochondrial myopathy.
American journal of human genetics 2000;66(6):1900-4.
2000: Sue C M; Karadimas C; Checcarelli N; Tanji K; Papadopoulou L C; Pallotti F; Guo F L; Shanske S; Hirano M; De Vivo D C; Van Coster R; Kaplan P; Bonilla E; DiMauro S
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
Annals of neurology 2000;47(5):589-95.
2000: Fernández R; Navarro C; Andreu A L; Bruno C; Shanske S; Gámez J; Teijeira S; Hernández I; Teijeiro A; Fernández J M; Musumeci O; DiMauro S
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.
Archives of neurology 2000;57(2):217-9.
1999: Papadopoulou L C; Sue C M; Davidson M M; Tanji K; Nishino I; Sadlock J E; Krishna S; Walker W; Selby J; Glerum D M; Coster R V; Lyon G; Scalais E; Lebel R; Kaplan P; Shanske S; De Vivo D C; Bonilla E; Hirano M; DiMauro S; Schon E A
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Nature genetics 1999;23(3):333-7.
1999: Bruno C; DiRocco M; Lamba L D; Bado M; Marino C; Tsujino S; Shanske S; Stella G; Minetti C; van Diggelen O P; DiMauro S
A novel missense mutation in the glycogen branching enzyme gene in a child with myopathy and hepatopathy.
Neuromuscular disorders : NMD 1999;9(6-7):403-7.
1999: Hadjigeorgiou G M; Kawashima N; Bruno C; Andreu A L; Sue C M; Rigden D J; Kawashima A; Shanske S; DiMauro S
Manifesting heterozygotes in a Japanese family with a novel mutation in the muscle-specific phosphoglycerate mutase (PGAM-M) gene.
Neuromuscular disorders : NMD 1999;9(6-7):399-402.
1999: Shtilbans A; El-Schahawi M; Malkin E; Shanske S; Musumeci O; DiMauro S
A novel mutation in the mitochondrial DNA transfer ribonucleic acidAsp gene in a child with myoclonic epilepsy and psychomotor regression.
Journal of child neurology 1999;14(9):610-3.
1999: Bruno C; Martinuzzi A; Tang Y; Andreu A L; Pallotti F; Bonilla E; Shanske S; Fu J; Sue C M; Angelini C; DiMauro S; Manfredi G
A stop-codon mutation in the human mtDNA cytochrome c oxidase I gene disrupts the functional structure of complex IV.
American journal of human genetics 1999;65(3):611-20.
1999: Bruno C; Löfberg M; Tamburino L; Jänkälä H; Hadjigeorgiou G M; Andreu A L; Shanske S; Somer H; DiMauro S
Molecular characterization of McArdle's disease in two large Finnish families.
Journal of the neurological sciences 1999;165(2):121-5.
1999: Sue C M; Tanji K; Hadjigeorgiou G; Andreu A L; Nishino I; Krishna S; Bruno C; Hirano M; Shanske S; Bonilla E; Fischel-Ghodsian N; DiMauro S; Friedman R
Maternally inherited hearing loss in a large kindred with a novel T7511C mutation in the mitochondrial DNA tRNA(Ser(UCN)) gene.
Neurology 1999;52(9):1905-8.
1999: Andreu A L; Tanji K; Bruno C; Hadjigeorgiou G M; Sue C M; Jay C; Ohnishi T; Shanske S; Bonilla E; DiMauro S
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.
Annals of neurology 1999;45(6):820-3.
1999: Sue C M; Bruno C; Andreu A L; Cargan A; Mendell J R; Tsao C Y; Luquette M; Paolicchi J; Shanske S; DiMauro S; De Vivo D C
Infantile encephalopathy associated with the MELAS A3243G mutation.
The Journal of pediatrics 1999;134(6):696-700.
1999: Andreu A L; Bruno C; Tamburino L; Gamez J; Shanske S; Cervera C; Navarro C; DiMauro S
A new mutation in the myophosphorylase gene (Asn684Tyr) in a Spanish patient with McArdle's disease.
Neuromuscular disorders : NMD 1999;9(3):171-3.
1999: Andreu A L; Bruno C; Hadjigeorgiou G M; Shanske S; DiMauro S
Polymorphic variants in the human mitochondrial cytochrome b gene.
Molecular genetics and metabolism 1999;67(1):49-52.
1999: Hadjigeorgiou G M; Kim S H; Fischbeck K H; Andreu A L; Berry G T; Bingham P; Shanske S; Bonilla E; DiMauro S
A new mitochondrial DNA mutation (A3288G) in the tRNA(Leu(UUR)) gene associated with familial myopathy.
Journal of the neurological sciences 1999;164(2):153-7.
1999: Bruno C; Tamburino L; Kawashima N; Andreu A L; Shanske S; Hadjigeorgiou G M; Kawashima A; DiMauro S
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease.
Neuromuscular disorders : NMD 1999;9(1):34-7.
1999: Andreu A L; Bruno C; Dunne T C; Tanji K; Shanske S; Sue C M; Krishna S; Hadjigeorgiou G M; Shtilbans A; Bonilla E; DiMauro S
A nonsense mutation (G15059A) in the cytochrome b gene in a patient with exercise intolerance and myoglobinuria.
Annals of neurology 1999;45(1):127-30.
1998: Vázquez-Memije M E; Shanske S; Santorelli F M; Kranz-Eble P; DeVivo D C; DiMauro S
Comparative biochemical studies of ATPases in cells from patients with the T8993G or T8993C mitochondrial DNA mutations.
Journal of inherited metabolic disease 1998;21(8):829-36.
1998: Santorelli F M; Tanji K; Shanske S; Krishna S; Schmidt R E; Greenwood R S; DiMauro S; De Vivo D C
The mitochondrial DNA A8344G mutation in Leigh syndrome revealed by analysis in paraffin-embedded sections: revisiting the past.
Annals of neurology 1998;44(6):962-4.
1998: Andreu A L; Bruno C; Shanske S; Shtilbans A; Hirano M; Krishna S; Hayward L; Systrom D S; Brown R H; DiMauro S
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
Neurology 1998;51(5):1444-7.
1998: Sciacco M; Gasparo-Rippa P; Vu T H; Tanji K; Shanske S; Mendell J R; Schon E A; DiMauro S; Bonilla E
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
Muscle & nerve 1998;21(11):1374-81.
1998: Gospe S M; El-Schahawi M; Shanske S; Bruno C; DiMauro S; Hoye E; Walsh D A; Gorin F A
Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.
Neurology 1998;51(4):1228-9.
1998: Bruno C; Manfredi G; Andreu A L; Shanske S; Krishna S; Ilse W K; DiMauro S
A splice junction mutation in the alpha(M) gene of phosphorylase kinase in a patient with myopathy.
Biochemical and biophysical research communications 1998;249(3):648-51.
1998: Andreu A L; Bruno C; Gamez J; Shanske S; Cervera C; Navarro C; Arbos M A; Tamburino L; Schwartz S; DiMauro S
Molecular genetic analysis of McArdle's disease in Spanish patients.
Neurology 1998;51(1):260-2.
1998: Vu T H; Sciacco M; Tanji K; Nichter C; Bonilla E; Chatkupt S; Maertens P; Shanske S; Mendell J; Koenigsberger M R; Sharer L; Schon E A; DiMauro S; DeVivo D C
Clinical manifestations of mitochondrial DNA depletion.
Neurology 1998;50(6):1783-90.
1998: Bruno C; Minetti C; Tang Y; Magalhães P J; Santorelli F M; Shanske S; Bado M; Cordone G; Gatti R; DiMauro S
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
Journal of inherited metabolic disease 1998;21(2):155-61.
1998: Bruno C; Minetti C; Shanske S; Morreale G; Bado M; Cordone G; DiMauro S
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
Neurology 1998;50(1):296-8.
1997: Shanske S; DiMauro S
Diagnosis of the mitochondrial encephalomyopathies.
Current opinion in rheumatology 1997;9(6):496-503.
1997: Santorelli F M; Tanji K; Kulikova R; Shanske S; Vilarinho L; Hays A P; DiMauro S
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
Biochemical and biophysical research communications 1997;238(2):326-8.
1997: Fromenty B; Carrozzo R; Shanske S; Schon E A
High proportions of mtDNA duplications in patients with Kearns-Sayre syndrome occur in the heart.
American journal of medical genetics 1997;71(4):443-52.
1997: Santorelli F M; Tanji K; Sano M; Shanske S; El-Shahawi M; Kranz-Eble P; DiMauro S; De Vivo D C
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
Annals of neurology 1997;42(2):256-60.
1997: Santorelli F M; Tanji K; Shanske S; DiMauro S
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.
Neurology 1997;49(1):270-3.
1997: Sobreira C; Hirano M; Shanske S; Keller R K; Haller R G; Davidson E; Santorelli F M; Miranda A F; Bonilla E; Mojon D S; Barreira A A; King M P; DiMauro S
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency.
Neurology 1997;48(5):1238-43.
1997: el-Schahawi M; Bruno C; Tsujino S; Sarrazin A M; Shanske S; LeRoux M G; DiMauro S
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency.
Neuromuscular disorders : NMD 1997;7(2):81-3.
1997: el-Schahawi M; López de Munain A; Sarrazin A M; Shanske A L; Basirico M; Shanske S; DiMauro S
Two large Spanish pedigrees with nonsyndromic sensorineural deafness and the mtDNA mutation at nt 1555 in the 12s rRNA gene: evidence of heteroplasmy.
Neurology 1997;48(2):453-6.
1996: Kaufmann P; Koga Y; Shanske S; Hirano M; DiMauro S; King M P; Schon E A
Mitochondrial DNA and RNA processing in MELAS.
Annals of neurology 1996;40(2):172-80.
1996: el-Schahawi M; Tsujino S; Shanske S; DiMauro S
Diagnosis of McArdle's disease by molecular genetic analysis of blood.
Neurology 1996;47(2):579-80.
1996: Santorelli F M; Sciacco M; Tanji K; Shanske S; Vu T H; Golzi V; Griggs R C; Mendell J R; Hays A P; Bertorini T E; Pestronk A; Bonilla E; DiMauro S
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients.
Annals of neurology 1996;39(6):789-95.
1996: Santorelli F M; Mak S C; Vazquez-Memije M E; Shanske S; Kranz-Eble P; Jain K D; Bluestone D L; De Vivo D C; DiMauro S
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.
Pediatric research 1996;39(5):914-7.
1996: Santorelli F M; Mak S C; El-Schahawi M; Casali C; Shanske S; Baram T Z; Madrid R E; DiMauro S
Maternally inherited cardiomyopathy and hearing loss associated with a novel mutation in the mitochondrial tRNA(Lys) gene (G8363A).
American journal of human genetics 1996;58(5):933-9.
1996: Martinuzzi A; Tsujino S; Vergani L; Schievano G; Cadaldini M; Bartoloni L; Fanin M; Siciliano G; Shanske S; DiMauro S; Angelini C
Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy.
Journal of the neurological sciences 1996;137(1):14-9.
1996: Tsujino S; Shanske S; Valberg S J; Cardinet G H; Smith B P; DiMauro S
Cloning of bovine muscle glycogen phosphorylase cDNA and identification of a mutation in cattle with myophosphorylase deficiency, an animal model for McArdle's disease.
Neuromuscular disorders : NMD 1996;6(1):19-26.
1996: Vazquez-Memije M E; Shanske S; Santorelli F M; Kranz-Eble P; Davidson E; DeVivo D C; DiMauro S
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.
Journal of inherited metabolic disease 1996;19(1):43-50.
1996: Manfredi G; Schon E A; Bonilla E; Moraes C T; Shanske S; DiMauro S
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
Human mutation 1996;7(2):158-63.
1995: Thyagarajan D; Shanske S; Vazquez-Memije M; De Vivo D; DiMauro S
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
Annals of neurology 1995;38(3):468-72.
1995: Angelos S; Valberg S J; Smith B P; McQuarrie P S; Shanske S; Tsujino S; DiMauro S; Cardinet G H
Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle.
Muscle & nerve 1995;18(7):736-40.
1995: Tsujino S; Shanske S; Carroll J E; Sabina R L; DiMauro S
Double trouble: combined myophosphorylase and AMP deaminase deficiency in a child homozygous for nonsense mutations at both loci.
Neuromuscular disorders : NMD 1995;5(4):263-6.
1995: Manfredi G; Servidei S; Bonilla E; Shanske S; Schon E A; DiMauro S; Moraes C T
High levels of mitochondrial DNA with an unstable 260-bp duplication in a patient with a mitochondrial myopathy.
Neurology 1995;45(4):762-8.
1995: Tsujino S; Shanske S; Martinuzzi A; Heiman-Patterson T; DiMauro S
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).
Human mutation 1995;6(3):276-7.
1995: Tsujino S; Shanske S; Sakoda S; Toscano A; DiMauro S
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
Muscle & nerve 1995;3():S50-3.
1995: Tsujino S; Shanske S; DiMauro S
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
Muscle & nerve 1995;3():S45-9.
1995: Tsujino S; Shanske S; Nonaka I; DiMauro S
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
Muscle & nerve 1995;3():S23-7.
1995: DiMauro S; Tsujino S; Shanske S; Rowland L P
Biochemistry and molecular genetics of human glycogenoses: an overview.
Muscle & nerve 1995;3():S10-7.
1994: Tsujino S; Shanske S; Brownell A K; Haller R G; DiMauro S
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients.
Annals of neurology 1994;36(4):661-5.
1994: Tsujino S; Shanske S; Goto Y; Nonaka I; DiMauro S
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.
Human molecular genetics 1994;3(6):1005-6.
1994: Santorelli F M; Shanske S; Jain K D; Tick D; Schon E A; DiMauro S
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
Neurology 1994;44(5):972-4.
1994: Szabolcs M J; Seigle R; Shanske S; Bonilla E; DiMauro S; D'Agati V
Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy.
Kidney international 1994;45(5):1388-96.
1994: Tsujino S; Servidei S; Tonin P; Shanske S; Azan G; DiMauro S
Identification of three novel mutations in non-Ashkenazi Italian patients with muscle phosphofructokinase deficiency.
American journal of human genetics 1994;54(5):812-9.
1994: Wilkinson D A; Tonin P; Shanske S; Lombes A; Carlson G M; DiMauro S
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.
Neurology 1994;44(3 Pt 1):461-6.
1994: Tsujino S; Tonin P; Shanske S; Nohria V; Boustany R M; Lewis D; Chen Y T; DiMauro S
A splice junction mutation in a new myopathic variant of phosphoglycerate kinase deficiency (PGK North Carolina).
Annals of neurology 1994;35(3):349-53.
1994: Tsujino S; Shanske S; Nonaka I; Eto Y; Mendell J R; Fenichel G M; DiMauro S
Three new mutations in patients with myophosphorylase deficiency (McArdle disease).
American journal of human genetics 1994;54(1):44-52.
1994: Tsujino S; Rubin L A; Shanske S; DiMauro S
An A-to-C substitution involving the translation initiation codon in a patient with myophosphorylase deficiency (McArdle's disease).
Human mutation 1994;4(1):73-5.
1994: Silvestri G; Santorelli F M; Shanske S; Whitley C B; Schimmenti L A; Smith S A; DiMauro S
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.
Human mutation 1994;3(1):37-43.
1993: Santorelli F M; Shanske S; Macaya A; DeVivo D C; DiMauro S
The mutation at nt 8993 of mitochondrial DNA is a common cause of Leigh's syndrome.
Annals of neurology 1993;34(6):827-34.
1993: Tsujino S; Shanske S; DiMauro S
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
The New England journal of medicine 1993;329(4):241-5.
1993: Silvestri G; Ciafaloni E; Santorelli F M; Shanske S; Servidei S; Graf W D; Sumi M; DiMauro S
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").
Neurology 1993;43(6):1200-6.
1993: Tsujino S; Shanske S; Sakoda S; Fenichel G; DiMauro S
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
American journal of human genetics 1993;52(3):472-7.
1993: Ciafaloni E; Santorelli F M; Shanske S; Deonna T; Roulet E; Janzer C; Pescia G; DiMauro S
Maternally inherited Leigh syndrome.
The Journal of pediatrics 1993;122(3):419-22.
1993: Tonin P; Shanske S; Miranda A F; Brownell A K; Wyse J P; Tsujino S; DiMauro S
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)
Neurology 1993;43(2):387-91.
1993: Moraes C T; Ciacci F; Silvestri G; Shanske S; Sciacco M; Hirano M; Schon E A; Bonilla E; DiMauro S
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.
Neuromuscular disorders : NMD 1993;3(1):43-50.
1993: DiMauro S; Simonetti S; Chen X; Petruzzella V; Hirano M; Shanske S; Moraes C T; Schon E A
Mitochondrial dysfunction as a mechanism of CNS injury.
Research publications - Association for Research in Nervous and Mental Disease 1993;71():67-79.
1992: Martinuzzi A; Bartolomei L; Carrozzo R; Mostacciuolo M; Carbonin C; Toso V; Ciafaloni E; Shanske S; DiMauro S; Angelini C
Correlation between clinical and molecular features in two MELAS families.
Journal of the neurological sciences 1992;113(2):222-9.
1992: Silvestri G; Moraes C T; Shanske S; Oh S J; DiMauro S
A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).
American journal of human genetics 1992;51(6):1213-7.
1992: Moraes C T; Ricci E; Petruzzella V; Shanske S; DiMauro S; Schon E A; Bonilla E
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.
Nature genetics 1992;1(5):359-67.
1992: Ciafaloni E; Ricci E; Shanske S; Moraes C T; Silvestri G; Hirano M; Simonetti S; Angelini C; Donati M A; Garcia C
MELAS: clinical features, biochemistry, and molecular genetics.
Annals of neurology 1992;31(4):391-8.
1991: Ciafaloni E; Ricci E; Servidei S; Shanske S; Silvestri G; Manfredi G; Schon E A; DiMauro S
Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.
Neurology 1991;41(10):1663-4.
1991: Zupanc M L; Moraes C T; Shanske S; Langman C B; Ciafaloni E; DiMauro S
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.
Annals of neurology 1991;29(6):680-3.
1991: Moraes C T; Shanske S; Tritschler H J; Aprille J R; Andreetta F; Bonilla E; Schon E A; DiMauro S
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.
American journal of human genetics 1991;48(3):492-501.
1991: Moraes C T; Andreetta F; Bonilla E; Shanske S; DiMauro S; Schon E A
Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.
Molecular and cellular biology 1991;11(3):1631-7.
1991: Arnaudo E; Dalakas M; Shanske S; Moraes C T; DiMauro S; Schon E A
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy.
Lancet 1991;337(8740):508-10.
1991: Dimauro S; Moraes C T; Shanske S; Lombes A; Nakase H; Mita S; Tritschler H J; Bonilla E; Miranda A F; Schon E A
Mitochondrial encephalomyopathies: biochemical approach.
Revue neurologique 1991;147(6-7):443-9.
1990: DiMauro S; Bonilla E; Lombes A; Shanske S; Minetti C; Moraes C T
Mitochondrial encephalomyopathies.
Neurologic clinics 1990;8(3):483-506.
1990: Mita S; Rizzuto R; Moraes C T; Shanske S; Arnaudo E; Fabrizi G M; Koga Y; DiMauro S; Schon E A
Recombination via flanking direct repeats is a major cause of large-scale deletions of human mitochondrial DNA.
Nucleic acids research 1990;18(3):561-7.
1990: Shanske S; Moraes C T; Lombes A; Miranda A F; Bonilla E; Lewis P; Whelan M A; Ellsworth C A; DiMauro S
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.
Neurology 1990;40(1):24-8.
1989: Moraes C T; DiMauro S; Zeviani M; Lombes A; Shanske S; Miranda A F; Nakase H; Bonilla E; Werneck L C; Servidei S
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.
The New England journal of medicine 1989;320(20):1293-9.
1989: DiMauro S; Zeviani M; Moraes C T; Nakase H; Rizzuto R; Lombes A; Shanske S; Schon E A
Mitochondrial encephalomyopathies.
Progress in clinical and biological research 1989;306():117-28.
1988: Servidei S; Shanske S; Zeviani M; Lebo R; Fletterick R; DiMauro S
McArdle's disease: biochemical and molecular genetic studies.
Annals of neurology 1988;24(6):774-81.
1988: Sakoda S; Shanske S; DiMauro S; Schon E A
Isolation of a cDNA encoding the B isozyme of human phosphoglycerate mutase (PGAM) and characterization of the PGAM gene family.
The Journal of biological chemistry 1988;263(32):16899-905.
1987: Shanske S; Sakoda S; Hermodson M A; DiMauro S; Schon E A
Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase.
The Journal of biological chemistry 1987;262(30):14612-7.

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