Publications by authors named "Arthur Partikian"

8Publications

Association of a de novo nonsense mutation of the TRIM8 gene with childhood-onset focal segmental glomerulosclerosis.

Pediatr Nephrol 2020 06 19;35(6):1129-1132. Epub 2020 Mar 19.

Genetics Division, LAC+USC Medical Center, Department of Pediatrics, Keck School of Medicine, University of Southern California, 1801 Marengo Street General Laboratory Building Rm1G24, Los Angeles, CA, 90033, USA.

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http://dx.doi.org/10.1007/s00467-020-04525-3DOI Listing
June 2020

SLC35A2-CDG: Functional characterization, expanded molecular, clinical, and biochemical phenotypes of 30 unreported Individuals.

Hum Mutat 2019 07 24;40(7):908-925. Epub 2019 Apr 24.

Metabolic Unit, Great Ormond Street Hospital NHS Trust, Institute for Child Health UCL, London, UK.

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http://dx.doi.org/10.1002/humu.23731DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6661012PMC
July 2019

Neurodevelopmental and epilepsy outcomes in a North American cohort of patients with infantile spasms.

J Child Neurol 2010 Apr 11;25(4):423-8. Epub 2009 Sep 11.

Division of Child Neurology, Los Angeles County+University of Southern California Medical Center, Los Angeles, California 90033, USA.

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http://dx.doi.org/10.1177/0883073809341664DOI Listing
April 2010

Major adverse events associated with treatment of infantile spasms.

J Child Neurol 2007 Dec;22(12):1360-6

Pediatric Neurology Division, Women's and Children's Hospital, Keck School of Medicine, Los Angeles, California 90033, USA.

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http://dx.doi.org/10.1177/0883073807310988DOI Listing
December 2007

Iatrogenic botulism in a child with spastic quadriparesis.

J Child Neurol 2007 Oct;22(10):1235-7

Pediatric Neurology Division, Childrens Hospital Los Angeles, Keck School of Medicine, University of Southern California, Los Angeles, CA, USA.

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http://dx.doi.org/10.1177/0883073807306269DOI Listing
October 2007

Suppression of Saccharomyces cerevisiae rad27 null mutant phenotypes by the 5' nuclease domain of Escherichia coli DNA polymerase I.

Curr Genet 2002 Sep 23;41(6):379-88. Epub 2002 Aug 23.

Division of Molecular Medicine, City of Hope National Medical Center and Beckman Research Institute, Duarte, CA 91010, USA.

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http://dx.doi.org/10.1007/s00294-002-0323-xDOI Listing
September 2002

Arginine residues 47 and 70 of human flap endonuclease-1 are involved in DNA substrate interactions and cleavage site determination.

J Biol Chem 2002 Jul 1;277(27):24659-66. Epub 2002 May 1.

Division of Molecular Medicine, City of Hope National Medical Center and Beckman Research Institute, Duarte, California 91010, USA.

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http://dx.doi.org/10.1074/jbc.M111941200DOI Listing
July 2002