Michael J. Gambello: шукати на сайті Z-Library

Julia Wynn, Terri M. King, Michael J. Gambello, D. Kim Waller, Jacqueline T. Hecht

Рік:

2005

Мова:

english

Файл:

PDF, 203 KB

english, 2005

Mortality in achondroplasia study: A 42-year follow-up

Журнал:

Рік:

2007

Мова:

english

Файл:

PDF, 140 KB

english, 2007

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

David P. Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen Cederbaum, James Gibson, Michael J. Gambello, Keith Vaux, Patricia Ward, Gregory M. Rice, Jon A. Wolff, William E. O'

Журнал:

Рік:

2008

Мова:

english

Файл:

PDF, 68 KB

english, 2008

Survival of Texas infants born with trisomies 21, 18, and 13

Catherine Vendola, Mark Canfield, Stephen P. Daiger, Michael Gambello, S. Shahrukh Hashmi, Terri King, Sarah J. Noblin, D. Kim Waller, Jacqueline T. Hecht

Журнал:

Рік:

2010

Мова:

english

Файл:

PDF, 102 KB

english, 2010

The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia

David P. Dimmock, Pamela Trapane, Annette Feigenbaum, Catherine E. Keegan, Stephen Cederbaum, James Gibson, Michael J. Gambello, Keith Vaux, Patricia Ward, William E. O'Brien, Ping Fang

Журнал:

Tasneem Husain, Peter H. Langlois, Lowell E. Sever, Michael J. Gambello

Рік:

2010

Мова:

english

Файл:

PDF, 40 KB

english, 2010

Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996–2002

Журнал:

Birth Defects Research Part A: Clinical and Molecular Teratology

Рік:

2008

Мова:

english

Файл:

PDF, 81 KB

english, 2008

Generation of a conditional disruption of the Tsc2 gene

Omar Hernandez, Sharon Way, James McKenna III, Michael J. Gambello

Журнал:

genesis

Рік:

2007

Мова:

english

Файл:

PDF, 1.90 MB

english, 2007

Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration

R. Michelle Reith, Sharon Way, James McKenna III, Katherine Haines, Michael J. Gambello

Журнал:

Neurobiology of Disease

Рік:

2011

Мова:

english

Файл:

PDF, 2.46 MB

english, 2011

Murine modelling of classical lissencephaly

Michael J. Gambello, Shinji Hirotsune, Anthony Wynshaw-Boris

Журнал:

neurogenetics

Рік:

1999

Мова:

english

Файл:

PDF, 321 KB

english, 1999

10.1038/1221

Wynshaw-Boris, Anthony, Hirotsune, Shinji, Fleck, Mark W., Gambello, Michael J., Bix, Gregory J., Chen, Amy, Clark, Gary D., Ledbetter, David H., McBain, Chris J.

Журнал:

Nature Genetics

Рік:

1998

Мова:

english

Файл:

PDF, 629 KB

english, 1998

10.1038/35041000

Tsai, Li-Huei, Smith, Deanna S., Niethammer, Martin, Ayala, Ramses, Zhou, Ying, Gambello, Michael J., Wynshaw-Boris, Anthony

Журнал:

Nature Cell Biology

Рік:

2000

Мова:

english

Файл:

PDF, 6.02 MB

english, 2000

14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome

Toyo-oka, Kazuhito, Shionoya, Aki, Gambello, Michael J, Cardoso, Carlos, Leventer, Richard, Ward, Heather L, Ayala, Ramses, Tsai, Li-Huei, Dobyns, William, Ledbetter, David

Журнал:

Nature Genetics

Рік:

2003

Мова:

english

Файл:

PDF, 4.61 MB

english, 2003

Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex

Itzamarie Chévere-Torres, Hanoch Kaphzan, Aditi Bhattacharya, Areum Kang, Jordan M. Maki, Michael J. Gambello, Jack L. Arbiser, Emanuela Santini, Eric Klann

Журнал:

Neurobiology of Disease

Рік:

2012

Мова:

english

Файл:

PDF, 1.38 MB

english, 2012

The Apical Complex Couples Cell Fate and Cell Survival to Cerebral Cortical Development

Seonhee Kim, Maria K. Lehtinen, Alessandro Sessa, Mauro W. Zappaterra, Seo-Hee Cho, Dilenny Gonzalez, Brigid Boggan, Christina A. Austin, Jan Wijnholds, Michael J. Gambello, Jarema Malicki, Anthony S.

Журнал:

Neuron

Рік:

2010

Мова:

english

Файл:

PDF, 3.73 MB

english, 2010

A LIS1/NUDEL/Cytoplasmic Dynein Heavy Chain Complex in the Developing and Adult Nervous System

Shinji Sasaki, Aki Shionoya, Michiyo Ishida, Michael J. Gambello, Jessica Yingling, Anthony Wynshaw-Boris, Shinji Hirotsune

Журнал:

Neuron

Рік:

2000

Мова:

english

Файл:

PDF, 1.96 MB

english, 2000

Stress and Well-Being Among Parents of Children with Potocki-Lupski Syndrome

Carter, Rebecca D., Raia, Marianna, Ewing-Cobbs, Linda, Gambello, Michael, Hashmi, S. Shahrukh, Peterson, Susan K., Robbins-Furman, Patricia, Potocki, Lorraine

Журнал:

Journal of Genetic Counseling

Рік:

2013

Мова:

english

Файл:

PDF, 253 KB

english, 2013

AKT1 Gene Mutation Levels Are Correlated with the Type of Dermatologic Lesions in Patients with Proteus Syndrome

Lindhurst, Marjorie J, Wang, Ji-an, Bloomhardt, Hadley M, Witkowski, Alison M, Singh, Larry N, Bick, David P, Gambello, Michael J, Powell, Cynthia M, Lee, Chyi-Chia Richard, Darling, Thomas N, Bieseck

Журнал:

The Journal of Investigative Dermatology

Рік:

2014

Мова:

english

Файл:

PDF, 1.07 MB

english, 2014

Dilemma of predicting type I or III disease in the presence of a novel GBA mutation in combination with a RecNciI mutation in a young patient with Gaucher disease

Propst, Jennifer, Gambello, Michael J.

Журнал:

Barranger, John A., Gambello, Michael J., Goker-Alpan, Ozlem, Maegawa, Gustavo H.B., Nedd, Khan J., Gruskin, Daniel J., Blankstein, Larry, Weinreb, Neal J.

Рік:

2014

Мова:

english

Файл:

PDF, 49 KB

english, 2014

Evaluation of glycosphingolipid clearance in patients with Fabry disease treated with agalsidase alfa who switched to agalsidase beta (the INFORM study)

Журнал:

Teruyuki Tanaka, Finley F. Serneo, Christine Higgins, Michael J. Gambello, Anthony Wynshaw-Boris and Joseph G. Gleeson

Рік:

2014

Мова:

english

Файл:

PDF, 48 KB

english, 2014

Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex

Reith, R. Michelle, McKenna, James, Wu, Henry, Hashmi, S. Shahrukh, Cho, Seo-Hee, Dash, Pramod K., Gambello, Michael J.

Журнал:

Neurobiology of Disease

Рік:

2013

Мова:

english

Файл:

PDF, 1.40 MB

english, 2013

Lis1 and Doublecortin Function with Dynein to Mediate Coupling of the Nucleus to the Centrosome in Neuronal Migration

Журнал:

The Journal of Cell Biology

Рік:

2004

Мова:

english

Файл:

PDF, 4.12 MB

english, 2004

Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum–associated degradation pathway

Enns, Gregory M., Shashi, Vandana, Bainbridge, Matthew, Gambello, Michael J., Zahir, Farah R., Bast, Thomas, Crimian, Rebecca, Schoch, Kelly, Platt, Julia, Cox, Rachel, Bernstein, Jonathan A., Scavina

Журнал:

Rozas, Natalia S., Redell, John B., Hill, Julia L., McKenna, James, Moore, Anthony N., Gambello, Michael J., Dash, Pramod K.

Рік:

2014

Мова:

english

Файл:

PDF, 597 KB

english, 2014

Genetic Activation of mTORC1 Signaling Worsens Neurocognitive Outcome after Traumatic Brain Injury

Журнал:

Journal of Neurotrauma

Рік:

2015

Мова:

english

Файл:

PDF, 983 KB

english, 2015

Kuskokwim Syndrome, a Recessive Congenital Contracture Disorder, Extends the Phenotype of FKBP10 Mutations

Barnes, Aileen M., Duncan, Geraldine, Weis, MaryAnn, Paton, William, Cabral, Wayne A., Mertz, Edward L., Makareeva, Elena, Gambello, Michael J., Lacbawan, Felicitas L., Leikin, Sergey, Fertala, Andrze

Журнал:

Human Mutation

Рік:

2013

Мова:

english

Файл:

PDF, 1.51 MB

english, 2013

Comparative analysis of Tsc1 and Tsc2 single and double radial glial cell mutants

Mietzsch, Ulrike, McKenna, James, Reith, R. Michelle, Way, Sharon W., Gambello, Michael J.

Журнал:

The Journal of Comparative Neurology

Рік:

2013

Мова:

english

Файл:

PDF, 1.29 MB

english, 2013

Clinicopathologic characteristics of breast cancer in BRCA-carriers and non-carriers in women 35 years of age or less

Bayraktar, Soley, Amendola, Laura, Gutierrez-Barrera, Angelica M., Hashmi, Syed S., Amos, Chris, Gambello, Michael, Ready, Kaylene J., Arun, Banu

Журнал:

The Breast

Рік:

2014

Мова:

english

Файл:

PDF, 443 KB

english, 2014

Prolonging the survival of Tsc2 conditional knockout mice by glutamine supplementation

Rozas, Natalia S., Redell, John B., McKenna, James, Moore, Anthony N., Gambello, Michael J., Dash, Pramod K.

Журнал:

Biochemical and Biophysical Research Communications

Рік:

2015

Мова:

english

Файл:

PDF, 873 KB

english, 2015

Intrahippocampal glutamine administration inhibits mTORC1 signaling and impairs long-term memory

Rozas, Natalia S., Redell, John B., Pita-Almenar, Juan D., Mckenna, James, Moore, Anthony N., Gambello, Michael J., Dash, Pramod K.

Журнал:

Learning & Memory

Рік:

2015

Мова:

english

Файл:

PDF, 945 KB

english, 2015

Fetal trisomy 21 and the risk of preeclampsia

Defant, Jennifer, Gambello, Michael J., Monga, Manju, Langlois, Peter H., Noblin, Sarah J., Vidaeff, Alex C.

Журнал:

Journal of Maternal-Fetal and Neonatal Medicine

Рік:

2010

Мова:

english

Файл:

PDF, 173 KB

english, 2010

Genetics in the Twenty-First Century

Gambello, Michael J., Sutton, V. Reid

Журнал:

Clinics in Perinatology

Рік:

2015

Мова:

english

Файл:

PDF, 151 KB

english, 2015

Genetics Diagnosis, Inborn Errors of Metabolism and Newborn Screening: An Update

Gambello, Michael J., Sutton, V. Reid

Журнал:

Clinics in Perinatology

Рік:

2015

Файл:

PDF, 23 KB

2015

Immune tolerance strategies in siblings with infantile Pompe disease — Advantages for a preemptive approach to high-sustained antibody titers

Stenger, Elizabeth O., Kazi, Zoheb, Lisi, Emily, Gambello, Michael J., Kishnani, Priya

Журнал:

Molecular Genetics and Metabolism Reports

Рік:

2015

Мова:

english

Файл:

PDF, 549 KB

english, 2015

Trabeculae bone structure analysis in individuals affected by type 1 Gaucher disease using micro magnetic resonance imaging

Long, Valynne, Sharma, Gulshan B., Robertson, Douglas D., Xing, Minzhi, Harmouche, Elie, Podgorsky, Yegor, Laney, Dawn A., Gambello, Michael J., Lisi, Emily, Chamieh, Jad, Terk, Michael

Журнал:

Gabitzsch, Emily K., Hashmi, Syed S., Koenig, Mary Kay, Raia, Marianna H., Whittemore, Vicky H., Northrup, Hope, Nader, Shahla, Gambello, Michael J.

Рік:

2015

Мова:

english

Файл:

PDF, 47 KB

english, 2015

Myristoylation confers noncanonical AMPK functions in autophagy selectivity and mitochondrial surveillance

Liang, Jiyong, Xu, Zhi-Xiang, Ding, Zhiyong, Lu, Yiling, Yu, Qinghua, Werle, Kaitlin D., Zhou, Ge, Park, Yun-Yong, Peng, Guang, Gambello, Michael J., Mills, Gordon B.

Журнал:

Nature Communications

Рік:

2015

Мова:

english

Файл:

PDF, 3.19 MB

english, 2015

Self-reported reproductive health in women with tuberous sclerosis complex

Журнал:

Рік:

2013

Мова:

english

Файл:

PDF, 314 KB

english, 2013

Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex

Moon, Uk Yeol, Park, Jun Young, Park, Raehee, Cho, Jennifer Y., Hughes, Lucinda J., McKenna, James, Goetzl, Laura, Cho, Seo-Hee, Crino, Peter B., Gambello, Michael J., Kim, Seonhee

Журнал:

Cell Reports

Рік:

2015

Мова:

english

Файл:

PDF, 8.94 MB

english, 2015

Clinical characteristics and genotypes in the ADVANCE baseline dataset, a comprehensive cohort of us children and youth with Pompe disease

Kishnani, Priya S., Day, John W., Gambello, Michael, Gibson, James B., Hillman, Richard, Kronn, David, Leslie, Nancy, Pena, Loren, Stockton, David W., Tanpaiboon, Pranoot, Wang, Raymond, Haack, Kristi

Журнал:

Рік:

2016

Мова:

english

Файл:

PDF, 52 KB

english, 2016

The complex behavioral phenotype of 15q13.3 microdeletion syndrome

Ziats, Mark N., Goin-Kochel, Robin P., Berry, Leandra N., Ali, May, Ge, Jun, Guffey, Danielle, Rosenfeld, Jill A., Bader, Patricia, Gambello, Michael J., Wolf, Varina, Penney, Lynette S., Miller, Ryan

Журнал:

Рік:

2016

Мова:

english

Файл:

PDF, 989 KB

english, 2016

52-week efficacy and safety profile of alglucosidase alfa produced at 4000 liter scale in US patients with Pompe disease: ADVANCE, a phase 4 open-label prospective study

Hahn, Sihoun, Pena, Loren, Day, John W., Gambello, Michael, Gibson, James B., Hillman, Richard, Kronn, David, Stockton, David, Leslie, Nancy, Tanpaiboon, Pranoot, Wang, Raymond, Haack, Kristina An, Sp

Журнал:

Sharma, Gulshan B., Robertson, Douglas D., Laney, Dawn A., Gambello, Michael J., Terk, Michael

Рік:

2016

Мова:

english

Файл:

PDF, 54 KB

english, 2016

Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher disease

Журнал:

Journal of Biomechanics

Рік:

2016

Мова:

english

Файл:

PDF, 1.71 MB

english, 2016

Hereditary Multiple Exostosis and Pain

Darilek, Sandra, Wicklund, Catherine, Novy, Diane, Scott, Allison, Gambello, Michael, Johnston, Dennis, Hecht, Jacqueline

Журнал:

Journal of Pediatric Orthopaedics

Рік:

2005

Мова:

english

Файл:

PDF, 164 KB

english, 2005

MPV17 -related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

El-Hattab, Ayman W., Wang, Julia, Dai, Hongzheng, Almannai, Mohammed, Staufner, Christian, Alfadhel, Majid, Gambello, Michael J., Prasun, Pankaj, Raza, Saleem, Lyons, Hernando J., Afqi, Manal, Saleh,

Журнал:

Human Mutation

Рік:

2017

Мова:

english

Файл:

PDF, 1.10 MB

english, 2017

Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study

Hahn, Si Houn, Kronn, David, Leslie, Nancy D, Pena, Loren D M, Tanpaiboon, Pranoot, Gambello, Michael J, Gibson, James B, Hillman, Richard, Stockton, David W, Day, John W, Wang, Raymond Y, An Haack, K

Журнал: