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Sara Shanske

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Sara Shanske; Hasan O Akman; Ramen Chmait; Michio Hirano; Jiesheng Lu; Mahesh Mansukhani; Ali Naini; Salvatore DiMauro
Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.
Petra Kaufmann; D Y Koenigsberger; R Kulikova; Xiangling Mao; Maryam Oskoui; Juan M Pascual; Mary Sano; Sara Shanske; Dikoma Shungu; D M Sproule; Y Wei; Vanessa Battista; Salvatore DiMauro; Kristin Engelstad; Michio Hirano; Darryl C De Vivo
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.
Jorida Coku; Sara Shanske; Mahsa Mehrazin; Kurenai Tanji; Ali Naini; Valentina Emmanuele; Marc Patterson; Michio Hirano; Salvatore DiMauro
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.

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All Publications

2013: Sara Shanske; Hasan O Akman; Ramen Chmait; Michio Hirano; Jiesheng Lu; Mahesh Mansukhani; Ali Naini; Salvatore DiMauro
Mutation in an mtDNA protein-coding gene: prenatal diagnosis aided by fetal muscle biopsy.
Journal of child neurology 2013;28(2):264-8.
2011: Petra Kaufmann; D Y Koenigsberger; R Kulikova; Xiangling Mao; Maryam Oskoui; Juan M Pascual; Mary Sano; Sara Shanske; Dikoma Shungu; D M Sproule; Y Wei; Vanessa Battista; Salvatore DiMauro; Kristin Engelstad; Michio Hirano; Darryl C De Vivo
Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype.
Neurology 2011;77(22):1965-71.
2010: Jorida Coku; Sara Shanske; Mahsa Mehrazin; Kurenai Tanji; Ali Naini; Valentina Emmanuele; Marc Patterson; Michio Hirano; Salvatore DiMauro
Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNA(Leu(CUN)) gene.
Journal of the neurological sciences 2010;290(1-2):166-8.
2009: Mahsa Mehrazin; Sara Shanske; Petra Kaufmann; Ying Wei; Jorida Coku; Kristin Engelstad; Ali Naini; Darryl C De Vivo; Salvatore DiMauro
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: M Rohrbach; David Chitayat; Gustavo Maegawa; Sara Shanske; G Davidzon; K Chong; J T R Clarke; Ants Toi; M Tarnopolsky; B Robinson; Susan Blaser
Intracerebral periventricular pseudocysts in a fetus with mitochondrial depletion syndrome: an association or coincidence.
Fetal diagnosis and therapy 2009;25(2):177-82.
2008: antonella spinazzola; René Santer; Orhan H Akman; Kostas Tsiakas; Hansjoerg Schaefer; Xiaoqi Ding; Charalampos L Karadimas; Sara Shanske; Jai Ganesh; Salvatore Di Mauro; Massimo Zeviani
Hepatocerebral form of mitochondrial DNA depletion syndrome: novel MPV17 mutations.
Archives of neurology 2008;65(8):1108-13.
2008: Kurenai Tanji; Petra Kaufmann; Ali Naini; Jiesheng Lu; Timothy C Parsons; Dong Wang; Joshua Z Willey; Sara Shanske; Michio Hirano; Eduardo Bonilla; Alexander Khandji; Salvatore DiMauro; Lewis P Rowland
A novel tRNA(Val) mitochondrial DNA mutation causing MELAS.
Journal of the neurological sciences 2008;270(1-2):23-7.
2008: Johan L K Van Hove; Cynthia Freehauf; Shelley Miyamoto; Georgirene D Vladutiu; Jacklyn Pancrudo; Eduardo Bonilla; Mark A Lovell; Gary W Mierau; Janet A Thomas; Sara Shanske
Infantile cardiomyopathy caused by the T14709C mutation in the mitochondrial tRNA glutamic acid gene.
European journal of pediatrics 2008;167(7):771-6.
2008: Sabrina Sacconi; Leonardo Salviati; Yutaka Nishigaki; Winsome F Walker; Evelyn Hernandez-Rosa; Eva Trevisson; Severine Delplace; Claude Desnuelle; Sara Shanske; Michio Hirano; Eric A Schon; Eduardo Bonilla; Darryl C De Vivo; Salvatore DiMauro; Mercy M Davidson
A functionally dominant mitochondrial DNA mutation.
Human molecular genetics 2008;17(12):1814-20.
2008: Belén Bornstein; Estela Area; Kevin M Flanigan; Jai Ganesh; Parul Jayakar; Kathryn J Swoboda; Jorida Coku; Ali Naini; Sara Shanske; Kurenai Tanji; Michio Hirano; Salvatore DiMauro
Mitochondrial DNA depletion syndrome due to mutations in the RRM2B gene.
Neuromuscular disorders : NMD 2008;18(6):453-9.
2008: Sara Shanske; Jorida Coku; Jiesheng Lu; Jai Ganesh; Sindu Krishna; Kurenai Tanji; Eduardo Bonilla; Ali Naini; Michio Hirano; Salvatore DiMauro
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: Hasan O Akman; James N Sampayo; Fiona A Ross; John W Scott; Gregory Wilson; Lee Benson; Claudio Bruno; Sara Shanske; D Grahame Hardie; Salvatore DiMauro
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: Jacklyn Pancrudo; Sara Shanske; Jorida Coku; Jiesheng Lu; Rebecca Mardach; Orhan Akman; Sindu Krishna; Eduardo Bonilla; Salvatore DiMauro
Mitochondrial myopathy associated with a novel mutation in mtDNA.
Neuromuscular disorders : NMD 2007;17(8):651-4.
2007: Jacklyn Pancrudo; Sara Shanske; Eduardo Bonilla; Mariza Daras; Hasan O Akman; Sindu Krishna; Elfrida Malkin; Salvatore DiMauro
Mitochondrial encephalomyopathy due to a novel mutation in the tRNAGlu of mitochondrial DNA.
Journal of child neurology 2007;22(7):858-62.
2007: Ali Naini; Sara Shanske
Detection of mutations in mtDNA.
Methods in cell biology 2007;80():437-63.
2006: Maryam Oskoui; Guido Davidzon; Juan Pascual; Ricardo Erazo; Juliana Gurgel-Giannetti; Sindu Krishna; Eduardo Bonilla; Darryl C De Vivo; Sara Shanske; Salvatore DiMauro
Clinical spectrum of mitochondrial DNA depletion due to mutations in the thymidine kinase 2 gene.
Archives of neurology 2006;63(8):1122-6.
2005: Stacey K H Tay; Sabrina Sacconi; Hasan O Akman; Judith F Morales; Augusto Morales; Darryl C De Vivo; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro
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: Ali Naini; Petra Kaufmann; Sara Shanske; Kristin Engelstad; Darryl C De Vivo; Eric A Schon
Hypocitrullinemia in patients with MELAS: an insight into the "MELAS paradox".
Journal of the neurological sciences 2005;229-230():187-93.
2005: Stacey K H Tay; Sara Shanske; Carol Crowe; Alan L Shanske; Irwin Schafer; Jacklyn Pancrudo; Jiesheng Lu; Eduardo Bonilla; Salvatore DiMauro
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: Stacey K H Tay; Claudia Nesti; Michelangelo Mancuso; Eric A Schon; Sara Shanske; Eduardo Bonilla; Mercy M Davidson; Salvatore DiMauro
Studies of COX16, COX19, and PET191 in human cytochrome-c oxidase deficiency.
Archives of neurology 2004;61(12):1935-7.
2004: Sara Shanske; Jacklyn Pancrudo; Petra Kaufmann; Kristin Engelstad; Sarah Jhung; Jiesheng Lu; Ali Naini; Salvatore DiMauro; Darryl C De Vivo
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: Sara Shanske; Lee-Jun C Wong
Molecular analysis for mitochondrial DNA disorders.
Mitochondrion 2004;4(5-6):403-15.
2004: Stacey K H Tay; Sara Shanske; Paige Kaplan; Salvatore DiMauro
Association of mutations in SCO2, a cytochrome c oxidase assembly gene, with early fetal lethality.
Archives of neurology 2004;61(6):950-2.
2004: Petra Kaufmann; Dikoma Shungu; Mary Sano; Sarah Jhung; Kristin Engelstad; effie mitsis; Xiangling Mao; Sara Shanske; Michio Hirano; Salvatore DiMauro; Darryl C De Vivo
Cerebral lactic acidosis correlates with neurological impairment in MELAS.
Neurology 2004;62(8):1297-302.
2004: Cigdem Inan Akman; Carolyn M Sue; Sara Shanske; Kurenai Tanji; Eduardo Bonilla; Joceline Ojaimi; Sindu Krishna; Romaine Schubert; Salvatore DiMauro
Mitochondrial DNA deletion in a child with megaloblastic anemia and recurrent encephalopathy.
Journal of child neurology 2004;19(4):258-61.
2004: Stacey K H Tay; Hasan O Akman; Wendy Chung; Michael G Pike; Francesco Muntoni; Arthur P Hays; Sara Shanske; Stephanie J Valberg; James R Mickelson; Kurenai Tanji; Salvatore DiMauro
Fatal infantile neuromuscular presentation of glycogen storage disease type IV.
Neuromuscular disorders : NMD 2004;14(4):253-60.
2004: Charles Venditti; M C Harris; Dale S Huff; I Peterside; D Munson; H S Weber; J Rome; Edward M Kaye; Sara Shanske; Sabrina Sacconi; S Tay; Salvatore DiMauro; Gerard T Berry
Congenital cardiomyopathy and pulmonary hypertension: another fatal variant of cytochrome-c oxidase deficiency.
Journal of inherited metabolic disease 2004;27(6):735-9.
2003: Michelangelo Mancuso; Massimiliano Filosto; Seiichi Tsujino; Costanza Lamperti; Sara Shanske; Michéle Coquet; Claude Desnuelle; Salvatore DiMauro
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: Massimiliano Filosto; Michelangelo Mancuso; Cristofol Vives-Bauza; Maya R Vilà; Sara Shanske; Michio Hirano; Antoni L Andreu; Salvatore DiMauro
Lack of paternal inheritance of muscle mitochondrial DNA in sporadic mitochondrial myopathies.
Annals of neurology 2003;54(4):524-6.
2003: Massimiliano Filosto; Michelangelo Mancuso; Yutaka Nishigaki; Jacklyn Pancrudo; Yadollah Harati; Clifton L Gooch; Ami Mankodi; Lydia Bayne; Eduardo Bonilla; Sara Shanske; Michio Hirano; Salvatore DiMauro
Clinical and genetic heterogeneity in progressive external ophthalmoplegia due to mutations in polymerase gamma.
Archives of neurology 2003;60(9):1279-84.
2003: Michelangelo Mancuso; Massimiliano Filosto; Eduardo Bonilla; Michio Hirano; Sara Shanske; Tuan H Vu; Salvatore DiMauro
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: Michelangelo Mancuso; Massimiliano Filosto; J Clarke Stevens; Marc Patterson; Sara Shanske; Sindu Krishna; Salvatore DiMauro
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: Sabrina Sacconi; Leonardo Salviati; Carolyn M Sue; Sara Shanske; Mercy M Davidson; Eduardo Bonilla; Ali Naini; Darryl C De Vivo; Salvatore DiMauro
Mutation screening in patients with isolated cytochrome c oxidase deficiency.
Pediatric research 2003;53(2):224-30.
2003: Samih H Nasr; Howard Corey; Sara Shanske; Jacklyn Pancrudo; Petra Kaufmann; Glen S Markowitz; Salvatore DiMauro; Vivette D D'Agati
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: Charalampos L Karadimas; Leonardo Salviati; Sabrina Sacconi; Penelope Chronopoulou; Sara Shanske; Eduardo Bonilla; Darryl C De Vivo; Salvatore DiMauro
Mitochondrial myopathy and ophthalmoplegia in a sporadic patient with the G12315A mutation in mitochondrial DNA.
Neuromuscular disorders : NMD 2002;12(9):865-8.
2002: Georgios M Hadjigeorgiou; Menachem Sadeh; Olimpia Musumeci; Ron Dabby; Laura De Girolami; Ali Naini; Alexandros Papadimitriou; Sara Shanske; Salvatore DiMauro
Molecular genetic study of myophosphorylase deficiency (McArdle's disease) in two Yemenite-Jewish families.
Neuromuscular disorders : NMD 2002;12(9):824-7.
2002: Sara Shanske; Yingying Tang; Michio Hirano; Yutaka Nishigaki; Kurenai Tanji; Eduardo Bonilla; Carolyn M Sue; Sindu Krishna; Jose R Carlo; Judith Willner; Eric A Schon; Salvatore DiMauro
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: Sabrina Sacconi; Leonardo Salviati; Clifton L Gooch; Eduardo Bonilla; Sara Shanske; Salvatore DiMauro
Complex neurologic syndrome associated with the G1606A mutation of mitochondrial DNA.
Archives of neurology 2002;59(6):1013-5.
2002: Leonardo Salviati; Sabrina Sacconi; Minerva M Rasalan; David F Kronn; Alex Braun; Peter Canoll; Mercy Davidson; Sara Shanske; Eduardo Bonilla; Arthur P Hays; Eric A Schon; Salvatore DiMauro
Cytochrome c oxidase deficiency due to a novel SCO2 mutation mimics Werdnig-Hoffmann disease.
Archives of neurology 2002;59(5):862-5.
2002: Yutaka Nishigaki; Eduardo Bonilla; Sara Shanske; D A Gaskin; Salvatore DiMauro; Michio Hirano
Exercise-induced muscle "burning," fatigue, and hyper-CKemia: mtDNA T10010C mutation in tRNA(Gly).
Neurology 2002;58(8):1282-5.
2002: Georgios M Hadjigeorgiou; Alexandros Papadimitriou; Olimpia Musumeci; Konstantinos N Paterakis; Konstantina Flabouriari; Sara Shanske; Salvatore DiMauro
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: Eric A Schon; Ali Naini; Sara Shanske
Identification of mutations in mtDNA from patients suffering mitochondrial diseases.
Methods in molecular biology (Clifton, N.J.) 2002;197():55-74.
2001: Charalampos L Karadimas; Kurenai Tanji; M Geremek; Penelope Chronopoulou; T Vu; Sindu Krishna; Carolyn M Sue; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro; M Lipson; R Bachman
A5814G mutation in mitochondrial DNA can cause mitochondrial myopathy and cardiomyopathy.
Journal of child neurology 2001;16(7):531-3.
2001: Nina Raben; M Danon; N Lu; E Lee; L Shliselfeld; Alexander Skurat; Peter J Roach; John C Lawrence; Olimpia Musumeci; Sara Shanske; Salvatore DiMauro; Paul H Plotz
Surprises of genetic engineering: a possible model of polyglucosan body disease.
Neurology 2001;56(12):1739-45.
2001: Olimpia Musumeci; Ali Naini; A E Slonim; N Skavin; G L Hadjigeorgiou; N Krawiecki; B M Weissman; Chang-Yong Tsao; Jerry R Mendell; Sara Shanske; Darryl C De Vivo; Michio Hirano; Salvatore DiMauro
Familial cerebellar ataxia with muscle coenzyme Q10 deficiency.
Neurology 2001;56(7):849-55.
2000: A Shtilbans; Sara Shanske; S Goodman; Carolyn M Sue; Claudio Bruno; T L Johnson; N S Lava; N Waheed; Salvatore DiMauro
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: Charalampos L Karadimas; Penny Greenstein; Carolyn M Sue; Jeffrey T Joseph; Kurenai Tanji; Ronald G Haller; Tanja Taivassalo; Mercy M Davidson; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro
Recurrent myoglobinuria due to a nonsense mutation in the COX I gene of mitochondrial DNA.
Neurology 2000;55(5):644-9.
2000: Antoni L Andreu; Nicoletta Checcarelli; S Iwata; Sara Shanske; Salvatore DiMauro
A missense mutation in the mitochondrial cytochrome b gene in a revisited case with histiocytoid cardiomyopathy.
Pediatric research 2000;48(3):311-4.
2000: Olimpia Musumeci; Antoni L Andreu; Sara Shanske; N Bresolin; G P Comi; R Rothstein; Eric A Schon; Salvatore DiMauro
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: Carolyn M Sue; Charalampos L Karadimas; Nicoletta Checcarelli; Kurenai Tanji; Lefkothea C Papadopoulou; Francesco Pallotti; F L Guo; Sara Shanske; Michio Hirano; Darryl C De Vivo; R Van Coster; P Kaplan; Eduardo Bonilla; Salvatore DiMauro
Differential features of patients with mutations in two COX assembly genes, SURF-1 and SCO2.
Annals of neurology 2000;47(5):589-95.
2000: R Fernández; Carmen Navarro; Antoni L Andreu; Claudio Bruno; Sara Shanske; Josep Gámez; Susana Teijeira; I Hernández; A Teijeiro; J M Fernández; Olimpia Musumeci; Salvatore DiMauro
A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease.
Archives of neurology 2000;57(2):217-9.
1999: Lefkothea C Papadopoulou; Carolyn M Sue; Mercy M Davidson; Kurenai Tanji; I Nishino; James E Sadlock; S Krishna; W Walker; J Selby; D Moira Glerum; R V Coster; G Lyon; E Scalais; R Lebel; P Kaplan; Sara Shanske; Darryl C De Vivo; Eduardo Bonilla; Michio Hirano; Salvatore DiMauro; Eric A Schon
Fatal infantile cardioencephalomyopathy with COX deficiency and mutations in SCO2, a COX assembly gene.
Nature genetics 1999;23(3):333-7.
1999: Claudio Bruno; M DiRocco; Laura Doria Lamba; Massimo Bado; C Marino; S Tsujino; Sara Shanske; G Stella; Carlo Minetti; Otto P van Diggelen; Salvatore DiMauro
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: Georgios M Hadjigeorgiou; N Kawashima; Claudio Bruno; Antoni L Andreu; Carolyn M Sue; D J Rigden; A Kawashima; Sara Shanske; Salvatore DiMauro
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: A Shtilbans; M el-Schahawi; E Malkin; Sara Shanske; Olimpia Musumeci; Salvatore DiMauro
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: Claudio Bruno; Andrea Martinuzzi; Yingying Tang; Antoni L Andreu; Francesco Pallotti; Eduardo Bonilla; Sara Shanske; J Fu; Carolyn M Sue; Corrado Angelini; Salvatore DiMauro; Giovanni Manfredi
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: Carolyn M Sue; Kurenai Tanji; Georgios M Hadjigeorgiou; Antoni L Andreu; Ichizo Nishino; S Krishna; Claudio Bruno; Michio Hirano; Sara Shanske; Eduardo Bonilla; Nathan Fischel-Ghodsian; Salvatore DiMauro; R Friedman
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: Claudio Bruno; Mervi Löfberg; L Tamburino; Heidi Jänkälä; Georgios M Hadjigeorgiou; Antoni L Andreu; Sara Shanske; Hannu Somer; Salvatore DiMauro
Molecular characterization of McArdle's disease in two large Finnish families.
Journal of the neurological sciences 1999;165(2):121-5.
1999: Antoni L Andreu; K Tanji; Claudio Bruno; Georgios M Hadjigeorgiou; Carolyn M Sue; C Jay; T Ohnishi; Sara Shanske; E Bonilla; Salvatore DiMauro
Exercise intolerance due to a nonsense mutation in the mtDNA ND4 gene.
Annals of neurology 1999;45(6):820-3.
1999: Carolyn M Sue; C Bruno; Antoni L Andreu; Abba Cargan; Jerry R Mendell; Chang-Yong Tsao; Mark Luquette; J Paolicchi; Sara Shanske; Salvatore DiMauro; Darryl C De Vivo
Infantile encephalopathy associated with the MELAS A3243G mutation.
The Journal of pediatrics 1999;134(6):696-700.
1999: Antoni L Andreu; Claudio Bruno; L Tamburino; Josep Gamez; Sara Shanske; Carlos Cervera; Carmen Navarro; Salvatore DiMauro
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: Antoni L Andreu; Claudio Bruno; Georgios M Hadjigeorgiou; Sara Shanske; Salvatore DiMauro
Polymorphic variants in the human mitochondrial cytochrome b gene.
Molecular genetics and metabolism 1999;67(1):49-52.
1999: Georgios M Hadjigeorgiou; S H Kim; Kenneth H Fischbeck; Antoni L Andreu; G T Berry; P Bingham; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro
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: Claudio Bruno; L Tamburino; N Kawashima; Antoni L Andreu; Sara Shanske; Georgios M Hadjigeorgiou; A Kawashima; Salvatore DiMauro
A nonsense mutation in the myophosphorylase gene in a Japanese family with McArdle's disease.
Neuromuscular disorders : NMD 1999;9(1):34-7.
1999: Antoni L Andreu; Claudio Bruno; T C Dunne; K Tanji; Sara Shanske; Carolyn M Sue; S Krishna; Georgios M Hadjigeorgiou; A Shtilbans; E Bonilla; Salvatore DiMauro
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: M E Vázquez-Memije; Sara Shanske; F M Santorelli; P Kranz-Eble; Darryl C DeVivo; Salvatore DiMauro
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: Filippo M Santorelli; Kurenai Tanji; Sara Shanske; S Krishna; R E Schmidt; Robert Greenwood; Salvatore DiMauro; Darryl C De Vivo
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: Antoni L Andreu; Claudio Bruno; Sara Shanske; A Shtilbans; Michio Hirano; S Krishna; L Hayward; D S Systrom; R H Brown; Salvatore DiMauro
Missense mutation in the mtDNA cytochrome b gene in a patient with myopathy.
Neurology 1998;51(5):1444-7.
1998: M Sciacco; P Gasparo-Rippa; Tuan H Vu; Kurenai Tanji; Sara Shanske; Jerry R Mendell; Eric A Schon; Salvatore DiMauro; Eduardo Bonilla
Study of mitochondrial DNA depletion in muscle by single-fiber polymerase chain reaction.
Muscle & nerve 1998;21(11):1374-81.
1998: Sidney M Gospe; M el-Schahawi; Sara Shanske; Claudio Bruno; Salvatore DiMauro; Elaine Hoye; Donal A Walsh; Fredric A Gorin
Asymptomatic McArdle's disease associated with hyper-creatine kinase-emia and absence of myophosphorylase.
Neurology 1998;51(4):1228-9.
1998: Claudio Bruno; Giovanni Manfredi; Antoni L Andreu; Sara Shanske; Sindu Krishna; W K Ilse; Salvatore DiMauro
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: Antoni L Andreu; Claudio Bruno; Josep Gamez; Sara Shanske; Carlos Cervera; Carmen Navarro; MA Arbos; L Tamburino; Simón Schwartz; Salvatore DiMauro
Molecular genetic analysis of McArdle's disease in Spanish patients.
Neurology 1998;51(1):260-2.
1998: Tuan H Vu; M Sciacco; Kurenai Tanji; C Nichter; Eduardo Bonilla; S Chatkupt; P Maertens; Sara Shanske; Jerry R Mendell; MR Koenigsberger; Leroy R Sharer; Eric A Schon; Salvatore DiMauro; Darryl C DeVivo
Clinical manifestations of mitochondrial DNA depletion.
Neurology 1998;50(6):1783-90.
1998: Claudio Bruno; Carlo Minetti; Y Tang; P J Magalhães; Filippo M Santorelli; Sara Shanske; Massimo Bado; Giuseppe Cordone; R Gatti; Salvatore DiMauro
Primary adrenal insufficiency in a child with a mitochondrial DNA deletion.
Journal of inherited metabolic disease 1998;21(2):155-61.
1998: Claudio Bruno; Carlo Minetti; Sara Shanske; GIUSEPPE MORREALE; Massimo Bado; Giuseppe Cordone; Salvatore DiMauro
Combined defects of muscle phosphofructokinase and AMP deaminase in a child with myoglobinuria.
Neurology 1998;50(1):296-8.
1997: Sara Shanske; Salvatore DiMauro
Diagnosis of the mitochondrial encephalomyopathies.
Current opinion in rheumatology 1997;9(6):496-503.
1997: Filippo M Santorelli; Kurenai Tanji; R Kulikova; Sara Shanske; L Vilarinho; A P Hays; Salvatore DiMauro
Identification of a novel mutation in the mtDNA ND5 gene associated with MELAS.
Biochemical and biophysical research communications 1997;238(2):326-8.
1997: B Fromenty; R Carrozzo; Sara Shanske; Eric A Schon
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: F M Santorelli; K Tanji; Mary Sano; Sara Shanske; M El-Shahawi; P Kranz-Eble; Salvatore DiMauro; Darryl C De Vivo
Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNATrp gene.
Annals of neurology 1997;42(2):256-60.
1997: Filippo M Santorelli; Kurenai Tanji; Sara Shanske; Salvatore DiMauro
Heterogeneous clinical presentation of the mtDNA NARP/T8993G mutation.
Neurology 1997;49(1):270-3.
1997: Claudia Sobreira; Michio Hirano; Sara Shanske; R. Kennedy Keller; R G Haller; Edgar Davidson; Filippo M Santorelli; Armand F Miranda; Eduardo Bonilla; D S Mojon; Amilton A Barreira; Michael P King; Salvatore DiMauro
Mitochondrial encephalomyopathy with coenzyme Q10 deficiency.
Neurology 1997;48(5):1238-43.
1997: M el-Schahawi; Claudio Bruno; S Tsujino; A M Sarrazin; Sara Shanske; M G LeRoux; Salvatore DiMauro
Sudden infant death syndrome (SIDS) in a family with myophosphorylase deficiency.
Neuromuscular disorders : NMD 1997;7(2):81-3.
1997: M el-Schahawi; A López de Munain; A M Sarrazin; Alan L Shanske; M Basirico; Sara Shanske; Salvatore DiMauro
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: P Kaufmann; Y Koga; Sara Shanske; Michio Hirano; Salvatore DiMauro; Michael P King; Eric A Schon
Mitochondrial DNA and RNA processing in MELAS.
Annals of neurology 1996;40(2):172-80.
1996: M el-Schahawi; S Tsujino; Sara Shanske; Salvatore DiMauro
Diagnosis of McArdle's disease by molecular genetic analysis of blood.
Neurology 1996;47(2):579-80.
1996: Filippo M Santorelli; M Sciacco; Kurenai Tanji; Sara Shanske; Tuan H Vu; V Golzi; R C Griggs; J R Mendell; Arthur P Hays; T E Bertorini; A Pestronk; Eduardo Bonilla; Salvatore DiMauro
Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: a study of 56 patients.
Annals of neurology 1996;39(6):789-95.
1996: Filippo M Santorelli; S C Mak; M E Vazquez-Memije; Sara Shanske; P Kranz-Eble; K D Jain; D L Bluestone; Darryl C De Vivo; Salvatore DiMauro
Clinical heterogeneity associated with the mitochondrial DNA T8993C point mutation.
Pediatric research 1996;39(5):914-7.
1996: Filippo M Santorelli; S C Mak; M el-Schahawi; Carlo Casali; Sara Shanske; T Z Baram; R E Madrid; Salvatore DiMauro
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: A Martinuzzi; S Tsujino; Lodovica Vergani; G Schievano; M Cadaldini; L Bartoloni; Marina Fanin; Gabriele Siciliano; Sara Shanske; S DiMauro; Corrado Angelini
Molecular characterization of myophosphorylase deficiency in a group of patients from northern Italy.
Journal of the neurological sciences 1996;137(1):14-9.
1996: S Tsujino; Sara Shanske; Stephanie J Valberg; G H Cardinet; Bradford P Smith; Salvatore DiMauro
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: M E Vazquez-Memije; Sara Shanske; Filippo M Santorelli; P Kranz-Eble; E Davidson; Darryl C DeVivo; Salvatore DiMauro
Comparative biochemical studies in fibroblasts from patients with different forms of Leigh syndrome.
Journal of inherited metabolic disease 1996;19(1):43-50.
1996: Giovanni Manfredi; Eric A Schon; Eduardo Bonilla; Carlos T Moraes; Sara Shanske; Salvatore DiMauro
Identification of a mutation in the mitochondrial tRNA(Cys) gene associated with mitochondrial encephalopathy.
Human mutation 1996;7(2):158-63.
1995: Dominic Thyagarajan; Sara Shanske; M Vazquez-Memije; Darryl C De Vivo; Salvatore DiMauro
A novel mitochondrial ATPase 6 point mutation in familial bilateral striatal necrosis.
Annals of neurology 1995;38(3):468-72.
1995: S Angelos; Stephanie J Valberg; Bradford P Smith; P S McQuarrie; Sara Shanske; S Tsujino; Salvatore DiMauro; G H Cardinet
Myophosphorylase deficiency associated with rhabdomyolysis and exercise intolerance in 6 related Charolais cattle.
Muscle & nerve 1995;18(7):736-40.
1995: S Tsujino; Sara Shanske; James E Carroll; R L Sabina; Salvatore DiMauro
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: Giovanni Manfredi; S Servidei; Eduardo Bonilla; Sara Shanske; Eric A Schon; Salvatore DiMauro; Carlos T Moraes
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: S Tsujino; S Sakoda; Sara Shanske; A Toscano; Salvatore DiMauro
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
Muscle & nerve. Supplement 1995;(3):S50-3.
1995: S Tsujino; Sara Shanske; Salvatore DiMauro
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
Muscle & nerve. Supplement 1995;(3):S45-9.
1995: S Tsujino; I Nonaka; Sara Shanske; Salvatore DiMauro
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
Muscle & nerve. Supplement 1995;(3):S23-7.
1995: Salvatore DiMauro; Sara Shanske; S Tsujino; Lewis P Rowland
Biochemistry and molecular genetics of human glycogenoses: an overview.
Muscle & nerve. Supplement 1995;(3):S10-7.
1995: S Tsujino; Sara Shanske; A Martinuzzi; Terry D Heiman-Patterson; Salvatore DiMauro
Two novel missense mutations (E654K, L396P) in Caucasian patients with myophosphorylase deficiency (McArdle's disease).
Human mutation 1995;6(3):276-7.
1995: S Tsujino; Sara Shanske; S Sakoda; A Toscano; Salvatore DiMauro
Molecular genetic studies in muscle phosphoglycerate mutase (PGAM-M) deficiency.
Muscle & nerve. Supplement 1995;3():S50-3.
1995: S Tsujino; Sara Shanske; Salvatore DiMauro
Molecular genetic heterogeneity of phosphoglycerate kinase (PGK) deficiency.
Muscle & nerve. Supplement 1995;3():S45-9.
1995: S Tsujino; Sara Shanske; I Nonaka; Salvatore DiMauro
The molecular genetic basis of myophosphorylase deficiency (McArdle's disease).
Muscle & nerve. Supplement 1995;3():S23-7.
1995: Salvatore DiMauro; S Tsujino; Sara Shanske; Lewis P Rowland
Biochemistry and molecular genetics of human glycogenoses: an overview.
Muscle & nerve. Supplement 1995;3():S10-7.
1994: S Tsujino; Sara Shanske; A K Brownell; R G Haller; Salvatore DiMauro
Molecular genetic studies of muscle lactate dehydrogenase deficiency in white patients.
Annals of neurology 1994;36(4):661-5.
1994: S Tsujino; Sara Shanske; Y Goto; I Nonaka; Salvatore DiMauro
Two mutations, one novel and one frequently observed, in Japanese patients with McArdle's disease.
Human molecular genetics 1994;3(6):1005-6.
1994: Filippo M Santorelli; Sara Shanske; K D Jain; D Tick; Eric A Schon; Salvatore DiMauro
A T-->C mutation at nt 8993 of mitochondrial DNA in a child with Leigh syndrome.
Neurology 1994;44(5):972-4.
1994: M J Szabolcs; R Seigle; Sara Shanske; Eduardo Bonilla; Salvatore DiMauro; V D'Agati
Mitochondrial DNA deletion: a cause of chronic tubulointerstitial nephropathy.
Kidney international 1994;45(5):1388-96.
1994: S Tsujino; S Servidei; P Tonin; Sara Shanske; G Azan; Salvatore DiMauro
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: D A Wilkinson; P Tonin; Sara Shanske; A Lombes; G M Carlson; Salvatore DiMauro
Clinical and biochemical features of 10 adult patients with muscle phosphorylase kinase deficiency.
Neurology 1994;44(3 Pt 1):461-6.
1994: S Tsujino; P Tonin; Sara Shanske; V Nohria; Rose-Mary N Boustany; D Lewis; Y T Chen; Salvatore DiMauro
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: S Tsujino; Sara Shanske; I Nonaka; Y Eto; J R Mendell; G M Fenichel; Salvatore DiMauro
Three new mutations in patients with myophosphorylase deficiency (McArdle disease).
American journal of human genetics 1994;54(1):44-52.
1994: S Tsujino; L A Rubin; Sara Shanske; Salvatore DiMauro
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: G Silvestri; Filippo M Santorelli; Sara Shanske; Chester Whitley; L A Schimmenti; S A Smith; Salvatore DiMauro
A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.
Human mutation 1994;3(1):37-43.
1993: Filippo M Santorelli; Sara Shanske; A Macaya; Darryl C DeVivo; Salvatore DiMauro
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: S Tsujino; Sara Shanske; Salvatore DiMauro
Molecular genetic heterogeneity of myophosphorylase deficiency (McArdle's disease).
The New England journal of medicine 1993;329(4):241-5.
1993: G Silvestri; E Ciafaloni; Filippo M Santorelli; Sara Shanske; S Servidei; W D Graf; M Sumi; Salvatore DiMauro
Clinical features associated with the A-->G transition at nucleotide 8344 of mtDNA ("MERRF mutation").
Neurology 1993;43(6):1200-6.
1993: S Tsujino; Sara Shanske; S Sakoda; G Fenichel; Salvatore DiMauro
The molecular genetic basis of muscle phosphoglycerate mutase (PGAM) deficiency.
American journal of human genetics 1993;52(3):472-7.
1993: E Ciafaloni; Filippo M Santorelli; Sara Shanske; T Deonna; Eliane Roulet; C Janzer; G Pescia; Salvatore DiMauro
Maternally inherited Leigh syndrome.
The Journal of pediatrics 1993;122(3):419-22.
1993: P Tonin; Sara Shanske; Armand F Miranda; A K Brownell; J P Wyse; S Tsujino; Salvatore DiMauro
Phosphoglycerate kinase deficiency: biochemical and molecular genetic studies in a new myopathic variant (PGK Alberta)
Neurology 1993;43(2):387-91.
1993: Salvatore DiMauro; S Simonetti; X Chen; V Petruzzella; Michio Hirano; Sara Shanske; Carlos T Moraes; Eric A Schon
Mitochondrial dysfunction as a mechanism of CNS injury.
Research publications - Association for Research in Nervous and Mental Disease 1993;71():67-79.
1993: Carlos T Moraes; F Ciacci; G Silvestri; Sara Shanske; M Sciacco; Michio Hirano; Eric A Schon; Eduardo Bonilla; Salvatore DiMauro
Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA.
Neuromuscular disorders : NMD 1993;3(1):43-50.
1992: A Martinuzzi; Luigi Bartolomei; R Carrozzo; Maria Luisa Mostacciuolo; C Carbonin; V Toso; E Ciafaloni; Sara Shanske; S DiMauro; Corrado Angelini
Correlation between clinical and molecular features in two MELAS families.
Journal of the neurological sciences 1992;113(2):222-9.
1992: G Silvestri; Carlos T Moraes; Sara Shanske; S J Oh; Salvatore DiMauro
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: Carlos T Moraes; E Ricci; V Petruzzella; Sara Shanske; Salvatore DiMauro; Eric A Schon; Eduardo Bonilla
Molecular analysis of the muscle pathology associated with mitochondrial DNA deletions.
Nature genetics 1992;1(5):359-67.
1992: E Ciafaloni; E Ricci; Sara Shanske; Carlos T Moraes; G Silvestri; Michio Hirano; S Simonetti; Corrado Angelini; M A Donati; C Garcia
MELAS: clinical features, biochemistry, and molecular genetics.
Annals of neurology 1992;31(4):391-8.
1991: E Ciafaloni; E Ricci; S Servidei; Sara Shanske; G Silvestri; G Manfredi; E A Schon; Salvatore DiMauro
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: M L Zupanc; Carlos T Moraes; Sara Shanske; C B Langman; E Ciafaloni; Salvatore DiMauro
Deletion of mitochondrial DNA in patients with combined features of Kearns-Sayre and MELAS syndromes.
Annals of neurology 1991;29(6):680-3.
1991: E Arnaudo; M Dalakas; Sara Shanske; Carlos T Moraes; Salvatore DiMauro; Eric A Schon
Depletion of muscle mitochondrial DNA in AIDS patients with zidovudine-induced myopathy.
Lancet 1991;337(8740):508-10.
1991: Carlos T Moraes; Sara Shanske; H J Tritschler; June Aprille; F Andreetta; Eduardo Bonilla; Eric A Schon; Salvatore DiMauro
mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases.
American journal of human genetics 1991;48(3):492-501.
1991: Carlos T Moraes; F Andreetta; Eduardo Bonilla; Sara Shanske; Salvatore DiMauro; Eric A Schon
Replication-competent human mitochondrial DNA lacking the heavy-strand promoter region.
Molecular and cellular biology 1991;11(3):1631-7.
1991: Salvatore DiMauro; Carlos T Moraes; Sara Shanske; A Lombes; H Nakase; S Mita; H J Tritschler; Eduardo Bonilla; Armand F Miranda; Eric A Schon
Mitochondrial encephalomyopathies: biochemical approach.
Revue neurologique 1991;147(6-7):443-9.
1990: Salvatore DiMauro; Eduardo Bonilla; A Lombes; Sara Shanske; Carlo Minetti; Carlos T Moraes
Mitochondrial encephalomyopathies.
Neurologic clinics 1990;8(3):483-506.
1990: S Mita; R Rizzuto; Carlos T Moraes; Sara Shanske; E Arnaudo; G M Fabrizi; Y Koga; Salvatore DiMauro; Eric A Schon
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: Sara Shanske; Carlos T Moraes; A Lombes; Armand F Miranda; Eduardo Bonilla; P Lewis; M A Whelan; C A Ellsworth; Salvatore DiMauro
Widespread tissue distribution of mitochondrial DNA deletions in Kearns-Sayre syndrome.
Neurology 1990;40(1):24-8.
1989: Carlos T Moraes; Salvatore DiMauro; M Zeviani; A Lombes; Sara Shanske; Armand F Miranda; H Nakase; Eduardo Bonilla; L C Werneck; S Servidei
Mitochondrial DNA deletions in progressive external ophthalmoplegia and Kearns-Sayre syndrome.
The New England journal of medicine 1989;320(20):1293-9.
1989: Salvatore DiMauro; M Zeviani; Carlos T Moraes; H Nakase; R Rizzuto; A Lombes; Sara Shanske; Eric A Schon
Mitochondrial encephalomyopathies.
Progress in clinical and biological research 1989;306():117-28.
1988: S Servidei; Sara Shanske; M Zeviani; Roger Lebo; Robert J Fletterick; Salvatore DiMauro
McArdle's disease: biochemical and molecular genetic studies.
Annals of neurology 1988;24(6):774-81.
1988: S Sakoda; Sara Shanske; Salvatore DiMauro; Eric A Schon
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: Sara Shanske; S Sakoda; M A Hermodson; Salvatore DiMauro; Eric A Schon
Isolation of a cDNA encoding the muscle-specific subunit of human phosphoglycerate mutase.
The Journal of biological chemistry 1987;262(30):14612-7.