Charles P. Venditti: search on Z-Library

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1

DNA markers associated with high versus low IQ: The IQ quantitative trait loci (QTL) project

Robert Plomin, Gerald E. McClearn, Deborah L. Smith, Sylvia Vignetti, Michael J. Chorney, Karen Chorney, Charles P. Venditti, Steven Kasarda, Lee A. Thompson, Douglas K. Detterman, Johanna Daniels, Mi

Journal:

Behavior Genetics

Year:

1994

Language:

english

File:

PDF, 1.28 MB

english, 1994

2

Ophthalmic Manifestations and Long-Term Visual Outcomes in Patients with Cobalamin C Deficiency

Brooks, Brian P., Thompson, Amy H., Sloan, Jennifer L., Manoli, Irini, Carrillo-Carrasco, Nuria, Zein, Wadih M., Venditti, Charles P.

Journal:

Year:

2016

Language:

english

File:

PDF, 1.66 MB

english, 2016

3

Gene therapy for the treatment of Niemann-Pick disease type C1: Comparison of AAV9 to a novel serotype, AAV-PHP.B

Davidson, Cristin, Gibson, Alana, Gu, Tansy, Chandler, Randy, Deverman, Benjamin, Gradinaru, Viviana, Venditti, Charles, Pavan, William

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 64 KB

english, 2018

4

Patient with trisomy 9p and a hypoplastic left heart with a tricentric chromosome 9

Jennifer J.D. Morrissette, Ayala Laufer-Cahana, Livija Medne, Karen L. Russell, Charles P. Venditti, Rochelle Kline, Elaine H. Zackai, Nancy B. Spinner

Journal:

American Journal of Medical Genetics Part A

Year:

2003

Language:

english

File:

PDF, 142 KB

english, 2003

5

359. Targeted Genome Editing Using TALENs to Correct a Mouse Model of Methylmalonic Acidemia (MMA)

Schneller, Jessica L., Chandler, Randy J., Venditti, Charles P.

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 336 KB

english, 2016

6

Ion-abrasion scanning electron microscopy reveals distorted liver mitochondrial morphology in murine methylmalonic acidemia

Gavin E. Murphy, Bradley C. Lowekamp, Patricia M. Zerfas, Randy J. Chandler, Rajesh Narasimha, Charles P. Venditti, Sriram Subramaniam

Journal:

Journal of Structural Biology

Year:

2010

Language:

english

File:

PDF, 3.40 MB

english, 2010

7

353. 1-13C-Propionate Oxidation as a Measure of Methylmalonyl-CoA Mutase (MUT) Activity in Methylmalonic Acidemia

Gagné, Jack, Manoli, Irini, Harrington, Elizabeth, Smyth, Sarah, Hattenbach, Jacob D., Sloan, Jennifer L., Chen, Kong Y., Venditti, Charles P.

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 299 KB

english, 2016

8

Propofol administration in patients with methylmalonic acidemia and intracellular cobalamin metabolism disorders: a review of theoretical concerns and clinical experiences in 28 patients

Ktena, Yiouli P., Ramstad, Trygg, Baker, Eva H., Sloan, Jennifer L., Mannes, Andrew J., Manoli, Irini, Venditti, Charles P.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 433 KB

english, 2015

9

Genotoxicity in Mice Following AAV Gene Delivery: A Safety Concern for Human Gene Therapy?

Chandler, Randy J, LaFave, Matthew C, Varshney, Gaurav K, Burgess, Shawn M, Venditti, Charles P

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 1.42 MB

english, 2016

10

Gene therapy for metabolic diseases

Chandler, Randy J., Venditti, Charles P.

Journal:

Translational Science of Rare Diseases

Year:

2016

Language:

english

File:

PDF, 940 KB

english, 2016

11

Clinical and molecular analyses of deletion 3p25-pter syndrome

Philip N. Mowrey, Michael J. Chorney, Charles P. Venditti, Farida Latif, William S. Modi, Michael I. Lerman, Berton Zbar, David B. Robins, Peter K. Rogan, Roger L. Ladda

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 738 KB

english, 1993

12

198. Adeno-Associated Viral Gene Therapy To Treat Niemann-Pick Disease, Type C1

Chandler, Randy J., Williams, Ian M., Incao, Arturo A., Porter, Forbes D., Pavan, William J., Venditti, Charles P.

Journal:

Molecular Therapy

Year:

2015

Language:

english

File:

PDF, 272 KB

english, 2015

13

Improving patients’ pain experience in a large rural hospital

Medico, Charles J., King, Megan West, Cole, Gordon, Albright, Danielle, Kowalek, Eric, Bickert, Terri, Venditti, Denise

Journal:

American Journal of Health-System Pharmacy

Year:

2017

Language:

english

File:

PDF, 2.20 MB

english, 2017

14

Gene Therapy for Methylmalonic Acidemia: Past, Present, and Future

Chandler, Randy Joseph, Venditti, Charles Paul

Journal:

Human Gene Therapy

Year:

2019

Language:

english

File:

PDF, 317 KB

english, 2019

15

168. Assaying Hepatic Correction Mediated by Varied AAV Vectors in a Knock-Out Transgenic Mouse Model of Methylmalonic Acidemia (MMA)

Hubbard, Brandon T., Chandler, Randy J., Venditti, Charles P.

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 341 KB

english, 2016

16

Pre-clinical efficacy and dosing of an AAV8 vector expressing human methylmalonyl-CoA mutase in a murine model of methylmalonic acidemia (MMA)

Randy J. Chandler, Charles P. Venditti

Journal:

Molecular Genetics and Metabolism

Year:

2012

Language:

english

File:

PDF, 239 KB

english, 2012

17

Liver or Combined Liver-Kidney Transplantation for Patients with Isolated Methylmalonic Acidemia: Who and When?

Sloan, Jennifer L., Manoli, Irini, Venditti, Charles P.

Journal:

The Journal of Pediatrics

Year:

2015

Language:

english

File:

PDF, 172 KB

english, 2015

18

Systemic AAV9 gene therapy improves the lifespan of mice with Niemann-Pick disease, type C1

Chandler, Randy J., Williams, Ian M., Gibson, Alana L., Davidson, Cristin D., Incao, Arturo A., Hubbard, Brandon T., Porter, Forbes D., Pavan, William J., Venditti, Charles P.

Journal:

Human Molecular Genetics

Year:

2016

Language:

english

File:

PDF, 3.94 MB

english, 2016

19

Noncompaction of the ventricular myocardium and hydrops fetalis in cobalamin C disease

Tanpaiboon, Pranoot, Venditti, Charles P.

Journal:

Journal of Inherited Metabolic Disease

Year:

2013

Language:

english

File:

PDF, 56 KB

english, 2013

20

Adenovirus-Mediated Gene Delivery Rescues a Neonatal Lethal Murine Model of mut 0 Methylmalonic Acidemia

Chandler, Randy J., Venditti, Charles P.

Journal:

Human Gene Therapy

Year:

2008

Language:

english

File:

PDF, 209 KB

english, 2008

21

Response to Cunningham et al.

Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Shchelochkov, Oleg A., Venditti, Charles P.

Journal:

Genetics in Medicine

Year:

2016

Language:

english

File:

PDF, 79 KB

english, 2016

22

Response to: Hydroxocobalamin for cobalamin C: which dosage? by V. Wiwanitkit

Nuria Carrillo-Carrasco, Charles P. Venditti

Journal:

Journal of Inherited Metabolic Disease

Year:

2010

Language:

english

File:

PDF, 53 KB

english, 2010

23

Adaptive Visual Analog Scales (AVAS): A modifiable software program for the creation, administration, and scoring of visual analog scales

Dawn M. Marsh-Richard, Erin S. Hatzis, Charles W. Mathias, Nicholas Venditti, Donald M. Dougherty

Journal:

Behavior Research Methods

Year:

2009

Language:

english

File:

PDF, 247 KB

english, 2009

24

Large interdomain rearrangement triggered by suppression of micro- to millisecond dynamics in bacterial Enzyme I

Venditti, Vincenzo, Tugarinov, Vitali, Schwieters, Charles D., Grishaev, Alexander, Clore, G. Marius

Journal:

Nature Communications

Year:

2015

Language:

english

File:

PDF, 1.55 MB

english, 2015

25

613. A Comparison of CNS Transduction After Systemic versus Cranial Delivery of an AAV2/9 CamKII Promoter-eGFP Vector in Mice

Gibson, Alana L., Chandler, Randy J., Williams, Ian M., Incao, Arturo A., Porter, Forbes D., Pavan, William J., Venditti, Charles P.

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 300 KB

english, 2016

26

Genome editing for inborn errors of metabolism: advancing towards the clinic

Schneller, Jessica L., Lee, Ciaran M., Bao, Gang, Venditti, Charles P.

Journal:

Year:

2017

Language:

english

File:

PDF, 642 KB

english, 2017

27

Localization of the Hemochromatosis Disease Gene: Linkage Disequilibrium Analysis Using an American Patient Collection

Nicole K. Seese, Charles P. Venditti, Karen A. Chorney, Glenn S. Gerhard, Junli Ma, Thomas J. Hudson, Pradyumna D. Phatak, Michael J. Chorney

Journal:

Blood Cells, Molecules, and Diseases

Year:

1996

Language:

english

File:

PDF, 153 KB

english, 1996

28

Propionyl-CoA and adenosylcobalamin metabolism in Caenorhabditis elegans: Evidence for a role of methylmalonyl-CoA epimerase in intermediary metabolism

Randy J. Chandler, Vijay Aswani, Matthew S. Tsai, Marni Falk, Natasha Wehrli, Sally Stabler, Robert Allen, Margaret Sedensky, Haig H. Kazazian, Charles P. Venditti

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 423 KB

english, 2006

29

A detailed analysis of methylmalonic acid kinetics during hemodialysis and after combined liver/kidney transplantation in a patient withmut0methylmalonic acidemia

Vernon, Hilary J., Sperati, C. John, King, Joshua D., Poretti, Andrea, Miller, Neil R., Sloan, Jennifer L., Cameron, Andrew M., Myers, Donna, Venditti, Charles P., Valle, David

Journal:

Journal of Inherited Metabolic Disease

Year:

2014

Language:

english

File:

PDF, 2.02 MB

english, 2014

30

Long-term Rescue of a Lethal Murine Model of Methylmalonic Acidemia Using Adeno associated Viral Gene Therapy

Chandler, Randy J, Venditti, Charles P

Journal:

Molecular Therapy

Year:

2010

Language:

english

File:

PDF, 239 KB

english, 2010

31

A Barrel of Monkeys: scAAV8 Gene Therapy for Hemophilia in Nonhuman Primates

Chandler, Randy J, Venditti, Charles P

Journal:

Molecular Therapy

Year:

2011

Language:

english

File:

PDF, 213 KB

english, 2011

32

176. An Internally Tagged Methylmalonyl-CoA Mutase (Mut) Displays In Vivo Activity after AAV9 Mediated Gene Delivery

Schneller, Jessica, Senac, Julien, Chandler, Randy, Venditti, Charles P.

Journal:

Molecular Therapy

Year:

2015

Language:

english

File:

PDF, 276 KB

english, 2015

33

Mosaic paternal uniparental (iso)disomy for chromosome 20 associated with multiple anomalies

Charles P. Venditti, Piper Hunt, Alan Donnenfeld, Elaine Zackai, Nancy B. Spinner

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 180 KB

english, 2004

34

Renal growth in isolated methylmalonic acidemia

Kruszka, Paul S., Manoli, Irini, Sloan, Jennifer L., Kopp, Jeffrey B., Venditti, Charles P.

Journal:

Genetics in Medicine

Year:

2013

Language:

english

File:

PDF, 467 KB

english, 2013

35

Characterization of the null murine sodium/myo-inositol cotransporter 1 (Smit1 or Slc5a3) phenotype: Myo-inositol rescue is independent of expression of its cognate mitochondrial ribosomal protein subunit 6 (Mrps6) gene and of phosphatidylinositol levels in neonatal brain

Roberto Buccafusca, Charles P. Venditti, Lawrence C. Kenyon, Roy A. Johanson, Elisabeth Van Bockstaele, Jun Ren, Silvia Pagliardini, Jeremy Minarcik, Jeffrey A. Golden, Michael J. Coady, John J. Greer

Journal:

Molecular Genetics and Metabolism

Year:

2008

Language:

english

File:

PDF, 1.87 MB

english, 2008

36

Methylmalonic acidemia (MMA) in pregnancy: a case series and literature review

Raval, Donna B., Merideth, Melissa, Sloan, Jennifer L., Braverman, Nancy E., Conway, Robert L., Manoli, Irini, Venditti, Charles P.

Journal:

Journal of Inherited Metabolic Disease

Year:

2015

Language:

english

File:

PDF, 187 KB

english, 2015

37

Mapping and Characterization of Non-HLA Multigene Assemblages in the Human MHC Class I Region

Charles P. Venditti, James M. Harris, Daniel E. Geraghty, Michael J. Chorney

Journal:

Year:

1994

File:

PDF, 869 KB

1994

38

Methylmalonic and propionic acidemias

Fraser, Jamie L., Venditti, Charles P.

Journal:

Current Opinion in Pediatrics

Year:

2016

Language:

english

File:

PDF, 407 KB

english, 2016

39

Mutation Analysis in Hereditary Hemochromatosis

Ernest Beutler, Terri Gelbart, Carol West, Pauline Lee, Michele Adams, Ryan Blackstone, Paul Pockros, Michael Kosty, Charles P. Venditti, Pradyumna D. Phatak, Nicole K. Seese, Karen A. Chorney, Amy E.

Journal:

Blood Cells, Molecules, and Diseases

Year:

1996

Language:

english

File:

PDF, 56 KB

english, 1996

40

46. The First Viable Mouse Model of cblC Type Combined Methylmalonic Acidemia and Homocysteinemia: AAV Gene Therapy Rescues Neonatal Lethality and Provides Insight into Disease-Associated Retinal Degeneration

Arnold, Madeline, Sloan, Jennifer L., Achilly, Nathan P., Elliot, Gene, Onojafe, Ighovie F., Brooks, Brian P., Venditti, Charles P.

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 793 KB

english, 2016

41

Hybrid thermophilic/mesophilic enzymes reveal a role for conformational disorder in regulation of bacterial Enzyme I

Dotas, Rochelle R., Nguyen, Trang T., Stewart, Charles E., Ghirlando, Rodolfo, Potoyan, Davit A., Venditti, Vincenzo

Journal:

Journal of Molecular Biology

Year:

2020

File:

PDF, 10.42 MB

2020

42

Recombinant Adeno-Associated Viral Integration and Genotoxicity: Insights from Animal Models

Chandler, Randy J., Sands, Mark S., Venditti, Charles P.

Journal:

Human Gene Therapy

Year:

2017

Language:

english

File:

PDF, 787 KB

english, 2017

43

Improved disease amelioration with combination therapy for Niemann-Pick disease type C1

Davidson, Cristin, Gibson, Alana, Gu, Tansy, Ali, Nafeeza, Chandler, Randy, Venditti, Charles, Walkley, Steven U., Pavan, William

Journal:

Molecular Genetics and Metabolism

Year:

2019

Language:

english

File:

PDF, 49 KB

english, 2019

44

Metabolic phenotype of methylmalonic acidemia in mice and humans: the role of skeletal muscle

Randy J Chandler, Jennifer Sloan, Hong Fu, Matthew Tsai, Sally Stabler, Robert Allen, Klaus H Kaestner, Haig H Kazazian, Charles P Venditti

Journal:

BMC Medical Genetics

Year:

2007

Language:

english

File:

PDF, 889 KB

english, 2007

45

Methylmalonic acidemia: A megamitochondrial disorder affecting the kidney

Zsengellér, Zsuzsanna K., Aljinovic, Nika, Teot, Lisa A., Korson, Mark, Rodig, Nancy, Sloan, Jennifer L., Venditti, Charles P., Berry, Gerard T., Rosen, Seymour

Journal:

Pediatric Nephrology

Year:

2014

Language:

english

File:

PDF, 2.19 MB

english, 2014

46

Liver-Directed Recombinant Adeno-Associated Viral Gene Delivery Rescues a Lethal Mouse Model of Methylmalonic Acidemia and Provides Long-Term Phenotypic Correction

Carrillo-Carrasco, Nuria, Chandler, Randy J., Chandrasekaran, Suma, Venditti, Charles P.

Journal:

Human Gene Therapy

Year:

2010

Language:

english

File:

PDF, 519 KB

english, 2010

47

A critical reappraisal of dietary practices in methylmalonic acidemia raises concerns about the safety of medical foods. Part 2: cobalamin C deficiency

Manoli, Irini, Myles, Jennifer G., Sloan, Jennifer L., Carrillo-Carrasco, Nuria, Morava, Eva, Strauss, Kevin A., Morton, Holmes, Venditti, Charles P.

Journal:

Genetics in Medicine

Year:

2015

Language:

english

File:

PDF, 575 KB

english, 2015

48

48. Treatment of Methylmalonic Acidemia by Promoterless Gene-Targeting Using Adeno-Associated Viral (AAV) Mediated Homologous Recombination

Chandler, Randy J., Barzel, Adi, Kay, Mark A., Venditti, Charles P.

Journal:

Molecular Therapy

Year:

2016

Language:

english

File:

PDF, 924 KB

english, 2016

49

Determinants of heart rate variability

Hisako Tsuji, Ferdinand J. Venditti Jr., Emily S. Manders, Jane C. Evans, Martin G. Larson, Charles L. Feldman, Daniel Levy

Journal:

Journal of the American College of Cardiology

Year:

1996

Language:

english

File:

PDF, 885 KB

english, 1996

50

Delineating the spectrum of impairments, disabilities, and rehabilitation needs in methylmalonic acidemia (MMA)

Ktena, Yiouli P., Paul, Scott M., Hauser, Natalie S., Sloan, Jennifer L., Gropman, Andrea, Manoli, Irini, Venditti, Charles P.

Journal:

American Journal of Medical Genetics Part A

Year:

2015

Language:

english

File:

PDF, 1.05 MB

english, 2015

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