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Charles J. Epstein | Researchclopedia

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Charles J. Epstein

Hôpital Femme Mère Enfant

512

Works

25,327

Citations

78

h-index

185

i10-index

Research Topics

Down syndrome and intellectual disability research Mitochondrial Function and Pathology Genomic variations and chromosomal abnormalities

Affiliations

Università Cattolica del Sacro Cuore2000–2000

National Institutes of Health1967–1972

Uppsala University Hospital1988–1988

Howard Hughes Medical Institute1979–1981

Harvard University1980–1998

Top Works

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

David T. Miller,Margaret P Adam,et al.

20102,855 citations

Prenatal Screening and Diagnostics

Genetics and Neurodevelopmental Disorders

Dilated cardiomyopathy and neonatal lethality in mutant mice lacking manganese superoxide dismutase

Yibing Li,Ting‐Ting Huang,et al.

19951,771 citations

Life-long reduction in MnSOD activity results in increased DNA damage and higher incidence of cancer but does not accelerate aging

Holly Van Remmen,Yuji Ikeno,et al.

2003732 citations

CuZnSOD deficiency leads to persistent and widespread oxidative damage and hepatocarcinogenesis later in life

Sailaja Elchuri,Terry D. Oberley,et al.

2004662 citations

Severely Impaired Urinary Concentrating Ability in Transgenic Mice Lacking Aquaporin-1 Water Channels

Tonghui Ma,Baoxue Yang,et al.

1998563 citations

Defective Secretion of Saliva in Transgenic Mice Lacking Aquaporin-5 Water Channels

Tonghui Ma,Yualin Song,et al.

1999552 citations

Increased App Expression in a Mouse Model of Down's Syndrome Disrupts NGF Transport and Causes Cholinergic Neuron Degeneration

Ahmad Salehi,Jean‐Dominique Delcroix,et al.

2006544 citations

Hippocampal Long-Term Potentiation Suppressed by Increased Inhibition in the Ts65Dn Mouse, a Genetic Model of Down Syndrome

Alexander M. Kleschevnikov,Pavel V. Belichenko,et al.

2004467 citations

Developmental abnormalities and age-related neurodegeneration in a mouse model of Down syndrome

David M. Holtzman,Daniela Santucci,et al.

1996449 citations