Sara Shanske - Publications, H-index & Citations

Sara Shanske

Columbia University

68H指数

264论文数

1.6W被引数

收录论文 53

发表时间

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

Mitochondrion

IF4.5

2013-11-01

PREAI

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

Natural history of MELAS associated with mitochondrial DNA m.3243A>G genotype

NEUROLOGY

IF8.5

2011-11-29

137

OAAI

Kaufmann, P.; Engelstad, K.; Wei, Y.; Kulikova, R.; Oskoui, M.; Sproule, D. M.; Battista, V.; Koenigsberger, D. Y.; Pascual, J. M.; Shanske, S.; Sano, M.; Mao, X.; Hirano, M.; Shungu, D. C.; DiMauro, S.; De Vivo, D. C.

Slowly progressive encephalopathy with hearing loss due to a mutation in the mtDNA tRNALeu(CUN) gene

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2010-03-01

OAAI

Coku, Jorida; Shanske, Sara; Mehrazin, Mahsa; Tanji, Kurenai; Naini, Ali; Emmanuele, Valentina; Patterson, Marc; Hirano, Michio; DiMauro, Salvatore

Molecular basis of infantile reversible cytochrome c oxidase deficiency myopathy

BRAIN

IF11.7

2009-08-31

OAAI

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.; Coku, Jorida; Guenther-Scholz, Andrea; Smith, Paul M.; McFarland, Robert; Chrzanowska-Lightowlers, Zofia M. A.; Lightowlers, Robert N.; Hirano, Michio; Lochmueller, Hanns; Taylor, Robert W.; Chinnery, Patrick F.; Tulinius, Mar; DiMauro, Salvatore

Mitochondrial dysfunction in mut methylmalonic acidemia

FASEB JOURNAL

IF4.2

2008-12-16

160

OAAI

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

A novel tRNAVal mitochondrial DNA mutation causing MELAS 引起MELAS的新型tRNAVal线粒体DNA突变

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2008-07-01

OAAI

Tanji, Kurenal; Kaufmann, Petra; Naini, Ali B.; Lu, Jiesheng; Parsons, Timothy C.; Wang, Dong; Willey, Joshua Z.; Shanske, Sara; Hirano, Michio; Bonilla, Eduardo; Kharldji, Alexander; DiMauro, Salvatore; Rowland, Lewis P.

A functionally dominant mitochondrial DNA mutation

HUMAN MOLECULAR GENETICS

IF3.2

2008-03-04

OAAI

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.

Fatal infantile cardiac glycogenosis with phosphorylase kinase deficiency and a mutation in the γ2-subunit of AMP-Activated protein kinase

PEDIATRIC RESEARCH

IF3.1

2007-10-01

OAAI

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

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

EUROPEAN JOURNAL OF PEDIATRICS

IF2.6

2007-09-22

PREAI

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

Hypocitrullinemia in patients with MELAS: an insight into the MELAS paradox

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2005-03-01

PREAI

Naini, A; Kaufmann, P; Shanske, S; Engelstad, K; De Vivo, DC; Schon, EA

Multiple mitochondrial DNA deletions in sporadic inclusion body myositis: A study of 56 patients

ANNALS OF NEUROLOGY

IF7.7

2004-10-08

106

PREAI

Santorelli, FM; Sciacco, M; Tanji, K; Shanske, S; Vu, TH; Golzi, V; Griggs, RC; Mendell, JR; Hays, AP; Bertorini, TE; Pestronk, A; Bonilla, E; DiMauro, S

The mitochondrial DNA A8344G mutation in leigh syndrome revealed by analysis in paraffin-embedded sections: Revisiting the past

ANNALS OF NEUROLOGY

IF7.7

2004-10-08

PREAI

Santorelli, FM; Tanji, K; Shanske, S; Krishna, S; Schmidt, RE; Greenwood, RS; DiMauro, S; De Vivo, DC

Maternally inherited encephalopathy associated with a single-base insertion in the mitochondrial tRNA(Trp) gene

ANNALS OF NEUROLOGY

IF7.7

2004-10-08

PREAI

Santorelli, FM; Tanji, K; Sano, M; Shanske, S; ElShahawi, M; KranzEble, P; DiMauro, S; DeVivo, DC

Molecular analysis for mitochondrial DNA disorders 线粒体DNA疾病的分子分析

Mitochondrion

IF4.5

2004-09-01

PREAI

Shanske, S; Wong, LJC

Risk of developing a mitochondrial DNA deletion disorder

LANCET

IF88.5

2004-08-01

145

PREAI

Chinnery, PF; DiMauro, S; Shanske, S; Schon, EA; Zeviani, M; Mariotti, C; Carrara, F; Lombes, A; Laforet, P; Ogier, H; Jaksch, M; Lochmüller, H; Horvath, R; Deschauer, M; Thorburn, DR; Bindoff, LA; Poulton, J; Taylor, RW; Matthews, JNS; Turnbull, DM

Study of mitochondrial DNA mutations in patients with migraine with prolonged aura 先兆期延长的偏头痛患者线粒体DNA突变的研究

HEADACHE

IF4

2004-06-18

PREAI

Rozen, TD; Shanske, S; Otaegui, D; Lu, JS; Young, WB; Bradley, K; DiMauro, S; Silberstein, SD

Cerebral lactic acidosis correlates with neurological impairment in MELAS

NEUROLOGY

IF8.5

2004-04-27

184

PREAI

Kaufmann, P; Shungu, DC; Sano, MC; Jhung, S; Engelstad, K; Mitsis, E; Mao, X; Shanske, S; Hirano, M; DiMauro, S; De Vivo, DC

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

ANNALS OF NEUROLOGY

IF7.7

2003-09-11

PREAI

Filosto, M; Mancuso, M; Vives-Bauza, C; Vilà, MR; Shanske, S; Hirano, M; Andreu, AL; DiMauro, S

Mitochondrial myopathy and complex III deficiency in a patient with a new stop-codon mutation (G339X) in the cytochrome b gene 细胞色素b基因中具有新的终止密码子突变 (G339X) 的患者的线粒体肌病和复合物III缺乏症

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2003-05-01

PREAI

Mancuso, M; Filosto, M; Stevens, JC; Patterson, M; Shanske, S; Krishna, S; DiMauro, S

Mutation screening in patients with isolated cytochrome c oxidase deficiency

PEDIATRIC RESEARCH

IF3.1

2003-02-01

PREAI

Sacconi, S; Salviati, L; Sue, CM; Shanske, S; Davidson, MM; Bonilla, E; Naini, AB; De Vivo, DC; DiMauro, S

研究方向