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Stephen G Kaler

Showing results (41-50 of 65) with videos related to

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Science Advances|August 29, 2025
Intravenous AAV9-<i>ATP7A</i> plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse modelLalitha Venkataraman, Christopher J Jeanty, Tarun Kaniganti, et al.
Current Protocols in Human Genetics|July 8, 2011
Diagnosis of copper transport disordersLisbeth B Møller, Julia D Hicks, Courtney S Holmes, et al.
Pediatric Neurology|March 18, 2014
A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes diseaseTakahito Wada, Marie Reine Haddad, Ling Yi, et al.
Molecular Genetics and Metabolism|December 3, 2014
Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse modelMarie Reine Haddad, Keyur D Patel, Patricia H Sullivan, et al.
Thrombosis and Haemostasis|June 24, 2004
Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptorJingrong Tang, Sara Stern-Nezer, Po-Ching Liu, et al.
JIMD Reports|February 2, 2015
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease PhenotypeEun-Young Choi, Keyur Patel, Marie Reine Haddad, et al.
The New England Journal of Medicine|February 8, 2008
Neonatal diagnosis and treatment of Menkes diseaseStephen G Kaler, Courtney S Holmes, David S Goldstein, et al.
Molecular Genetics and Metabolism|March 6, 2007
Safety of intracerebroventricular copper histidine in adult ratsKristen E Lem, Lauren R Brinster, Olga Tjurmina, et al.
JPGN Reports|May 11, 2023
Autosomal Recessive ACTG2-Related Visceral Myopathy in BrothersMari Mori, Amanda R Clause, Kristen Truxal, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|September 1, 2011
ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse modelAnthony Donsante, Ling Yi, Patricia M Zerfas, et al.
Pageof 7

Showing results (41-50 of 65) with videos related to

Sort By:
Pageof 7
Science Advances|August 29, 2025
Intravenous AAV9-<i>ATP7A</i> plus subcutaneous copper histidinate optimizes outcomes in a lethal Menkes disease mouse modelLalitha Venkataraman, Christopher J Jeanty, Tarun Kaniganti, et al.
Current Protocols in Human Genetics|July 8, 2011
Diagnosis of copper transport disordersLisbeth B Møller, Julia D Hicks, Courtney S Holmes, et al.
Pediatric Neurology|March 18, 2014
A novel two-nucleotide deletion in the ATP7A gene associated with delayed infantile onset of Menkes diseaseTakahito Wada, Marie Reine Haddad, Ling Yi, et al.
Molecular Genetics and Metabolism|December 3, 2014
Molecular and biochemical characterization of Mottled-dappled, an embryonic lethal Menkes disease mouse modelMarie Reine Haddad, Keyur D Patel, Patricia H Sullivan, et al.
Thrombosis and Haemostasis|June 24, 2004
Mutation in the leucine-rich repeat C-flanking region of platelet glycoprotein Ib beta impairs assembly of von Willebrand factor receptorJingrong Tang, Sara Stern-Nezer, Po-Ching Liu, et al.
JIMD Reports|February 2, 2015
Tandem Duplication of Exons 1-7 Neither Impairs ATP7A Expression Nor Causes a Menkes Disease PhenotypeEun-Young Choi, Keyur Patel, Marie Reine Haddad, et al.
The New England Journal of Medicine|February 8, 2008
Neonatal diagnosis and treatment of Menkes diseaseStephen G Kaler, Courtney S Holmes, David S Goldstein, et al.
Molecular Genetics and Metabolism|March 6, 2007
Safety of intracerebroventricular copper histidine in adult ratsKristen E Lem, Lauren R Brinster, Olga Tjurmina, et al.
JPGN Reports|May 11, 2023
Autosomal Recessive ACTG2-Related Visceral Myopathy in BrothersMari Mori, Amanda R Clause, Kristen Truxal, et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy|September 1, 2011
ATP7A gene addition to the choroid plexus results in long-term rescue of the lethal copper transport defect in a Menkes disease mouse modelAnthony Donsante, Ling Yi, Patricia M Zerfas, et al.
Pageof 7