Annapurna Poduri : rechercher sur Z-Library

Chang, Bernard S., Krishnan, Vaishnav, Dulla, Chris G., Jette, Nathalie, Marsh, Eric D., Dacks, Penny A., Whittemore, Vicky, Poduri, Annapurna

Année:

2020

Langue:

english

Fichier:

PDF, 624 KB

english, 2020

Epilepsy Benchmarks Area I: Understanding the Causes of the Epilepsies and Epilepsy-Related Neurologic, Psychiatric, and Somatic Conditions

Journal:

Année:

2020

Langue:

english

Fichier:

PDF, 626 KB

english, 2020

Single-Neuron Sequencing Analysis of L1 Retrotransposition and Somatic Mutation in the Human Brain

Gilad D. Evrony, Xuyu Cai, Eunjung Lee, L. Benjamin Hills, Princess C. Elhosary, Hillel S. Lehmann, J.J. Parker, Kutay D. Atabay, Edward C. Gilmore, Annapurna Poduri, Peter J. Park, Christopher A. Wal

Journal:

Cell

Année:

2012

Langue:

english

Fichier:

PDF, 3.66 MB

english, 2012

Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy

Annapurna Poduri, Sameer S. Chopra, Edward G. Neilan, P. Christina Elhosary, Manju A. Kurian, Esther Meyer, Brenda J. Barry, Omar S. Khwaja, Mustafa A. M. Salih, Tommy Stödberg, Ingrid E. Scheffer, Ea

Journal:

Kinney, Hannah C., McDonald, Anna G., Minter, Megan E., Berry, Gerard T., Poduri, Annapurna, Goldstein, Richard D.

Année:

2012

Langue:

english

Fichier:

PDF, 399 KB

english, 2012

Witnessed sleep-related seizure and sudden unexpected death in infancy: a case report

Journal:

Forensic Science, Medicine, and Pathology

Année:

2013

Langue:

english

Fichier:

PDF, 166 KB

english, 2013

Megalencephaly and hemimegalencephaly: Breakthroughs in molecular etiology

Mirzaa, Ghayda M., Poduri, Annapurna

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 965 KB

english, 2014

A mouse model of DEPDC5 -related epilepsy: Neuronal loss of Depdc5 causes dysplastic and ectopic neurons, increased mTOR signaling, and seizure susceptibility

Yuskaitis, Christopher J., Jones, Brandon M., Wolfson, Rachel L., Super, Chloe E., Dhamne, Sameer C., Rotenberg, Alexander, Sabatini, David M., Sahin, Mustafa, Poduri, Annapurna

Journal:

Neurobiology of Disease

Année:

2017

Langue:

english

Fichier:

PDF, 29.53 MB

english, 2017

PCDH19 -related epilepsy is associated with a broad neurodevelopmental spectrum

Smith, Lacey, Singhal, Nilika, El Achkar, Christelle M., Truglio, Gessica, Rosen Sheidley, Beth, Sullivan, Joseph, Poduri, Annapurna

Journal:

Pearl, Phillip L., Poduri, Annapurna, Prabhu, Sanjay P., Harini, Chellamani, Goldstein, Richard, Atkinson, Richard M., Armstrong, Dawna, Kinney, Hannah

Année:

2018

Langue:

english

Fichier:

PDF, 885 KB

english, 2018

White matter spongiosis with vigabatrin therapy for infantile spasms

Journal:

Harini, Chellamani, Sharda, Sonal, Bergin, Ann Marie, Poduri, Annapurna, Yuskaitis, Christopher J., Peters, Jurriaan M., Rakesh, Kshitiz, Kapur, Kush, Pearl, Phillip L., Prabhu, Sanjay P.

Année:

2018

Langue:

english

Fichier:

PDF, 693 KB

english, 2018

Detailed Magnetic Resonance Imaging (MRI) Analysis in Infantile Spasms

Journal:

Journal of Child Neurology

Année:

2018

Langue:

english

Fichier:

PDF, 670 KB

english, 2018

2020 Epilepsy Benchmarks Area III: Improved Treatment Options for Controlling Seizures and Epilepsy-Related Conditions Without Side Effects

Traynelis, Stephen F., Dlugos, Dennis, Henshall, David, Mefford, Heather C., Rogawski, Michael A., Staley, Kevin J., Dacks, Penny A., Whittemore, Vicky, Poduri, Annapurna

Journal:

Année:

2020

Langue:

english

Fichier:

PDF, 611 KB

english, 2020

Epilepsy Benchmarks Area IV: Limit or Prevent Adverse Consequence of Seizures and Their Treatment Across the Life Span

Jones, Jana E., Asato, Miya R., Brown, Mesha-Gay, Doss, Julia L., Felton, Elizabeth A., Kearney, Jennifer A., Talos, Delia, Dacks, Penny A., Whittemore, Vicky, Poduri, Annapurna

Journal:

Année:

2020

Langue:

english

Fichier:

PDF, 629 KB

english, 2020

Polymicrogyria is associated with pathogenic variants in PTEN

Shao, Diane D., Achkar, Christelle M., Lai, Abbe, Srivastava, Siddharth, Doan, Ryan N., Rodan, Lance H., Chen, Allen Y., Poduri, Annapurna, Yang, Edward, Walsh, Christopher A., Irons, Mira B., Johnson

Journal:

Cecilia Mellado, Annapurna Poduri, Danielle Gleason, Princess C. Elhosary, Brenda J. Barry, Jennifer N. Partlow, Bernard S. Chang, Gary M. Shaw, A. James Barkovich, Christopher A. Walsh

Année:

2020

Fichier:

PDF, 2.29 MB

2020

Candidate gene sequencing of LHX2, HESX1, and SOX2 in a large schizencephaly cohort

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 113 KB

english, 2010

Response to “The Role of Cytomegalovirus in Schizencephaly” by Spalice et al.

Annapurna Poduri, Cecilia Mellado, Christopher A. Walsh

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 57 KB

english, 2011

Expect the unexpected in epilepsy genetics: Mutations in an epilepsy gene considered to be benign result in a severe phenotype

Annapurna Poduri

Journal:

Annapurna Poduri, Anna Golja, James J. Riviello Jr., Blaise F. D. Bourgeois, Frank H. Duffy, Masanori Takeoka

Année:

2012

Langue:

english

Fichier:

PDF, 79 KB

english, 2012

Ethnically diverse causes of Walker-Warburg syndrome (WWS): FCMD mutations are a more common cause of WWS outside of the Middle East

M. Chiara Manzini, Danielle Gleason, Bernard S. Chang, R. Sean Hill, Brenda J. Barry, Jennifer N. Partlow, Annapurna Poduri, Sophie Currier, Patricia Galvin-Parton, Lawrence R. Shapiro, Karen Schmidt,

Journal:

Human Mutation

Année:

2008

Langue:

english

Fichier:

PDF, 582 KB

english, 2008

A Distinct Asymmetrical Pattern of Cortical Malformation: Large Unilateral Malformation of Cortical Development with Contralateral Periventricular Nodular Heterotopia in Three Pediatric Cases

Journal:

Martina Vendrame, Annapurna Poduri, Tobias Loddenkemper, Gerhard Kluger, Giangennaro Coppola, Sanjeev V. Kothare

Année:

2005

Langue:

english

Fichier:

PDF, 128 KB

english, 2005

Treatment of malignant migrating partial epilepsy of infancy with rufinamide: report of five cases

Journal:

Epileptic Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 218 KB

english, 2011

Altered inhibition in tuberous sclerosis and type IIb cortical dysplasia

Delia M. Talos, Hongyu Sun, Bela Kosaras, Annelise Joseph, Rebecca D. Folkerth, Annapurna Poduri, Joseph R. Madsen, Peter M. Black, Frances E. Jensen

Journal:

Annapurna Poduri, Lori L. Beason-Held, Mark B. Moss, Douglas L. Rosene, Bradley T. Hyman

Année:

2012

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2012

The syndrome of perisylvian polymicrogyria with congenital arthrogryposis

Annapurna Poduri, Vida Chitsazzadeh, Stefano D’Arrigo, Ermellina Fedrizzi, Chiara Pantaleoni, Daria Riva, Claudia Busse, Helmut Küster, Adre Duplessis, John Gaitanis, Mustafa Sahin, Cheryl Garganta, M

Journal:

Brain and Development

Année:

2010

Langue:

english

Fichier:

PDF, 182 KB

english, 2010

CA3 neuronal degeneration follows chronic entorhinal cortex lesions

Journal:

Neuroscience Letters

Année:

1995

Langue:

english

Fichier:

PDF, 511 KB

english, 1995

Epilepsy genetics — past, present, and future

Annapurna Poduri, Daniel Lowenstein

Journal:

Current Opinion in Genetics & Development

Année:

2011

Langue:

english

Fichier:

PDF, 1.41 MB

english, 2011

Somatic Activation of AKT3 Causes Hemispheric Developmental Brain Malformations

Annapurna Poduri, Gilad D. Evrony, Xuyu Cai, Princess Christina Elhosary, Rameen Beroukhim, Maria K. Lehtinen, L. Benjamin Hills, Erin L. Heinzen, Anthony Hill, R. Sean Hill, Brenda J. Barry, Blaise F

Journal:

Neuron

Année:

2012

Langue:

english

Fichier:

PDF, 1.14 MB

english, 2012

Oxcarbazepine in Children With Nocturnal Frontal-Lobe Epilepsy

G. Praveen Raju, Dean P. Sarco, Annapurna Poduri, James J. Riviello, Ann Marie R. Bergin, Masanori Takeoka

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 69 KB

english, 2007

Experience With Rufinamide in a Pediatric Population: A Single Center's Experience

Martina Vendrame, Tobias Loddenkemper, Vasu D. Gooty, Masanori Takeoka, Alexander Rotenberg, Ann M. Bergin, Yaman Z. Eksioglu, Annapurna Poduri, Frank H. Duffy, Mark Libenson, Blaise F. Bourgeois, San

Journal:

Muruvet Elkay, Annapurna Poduri, Sanjay P. Prabhu, Ann M. Bergin, Sanjeev V. Kothare

Année:

2010

Langue:

english

Fichier:

PDF, 65 KB

english, 2010

Nocturnal Choking Episodes: Under-Recognized and Misdiagnosed

Journal:

Année:

2010

Langue:

english

Fichier:

PDF, 170 KB

english, 2010

Inheritance of Febrile Seizures in Sudden Unexplained Death in Toddlers

Ingrid A. Holm, Annapurna Poduri, Laura Crandall, Elisabeth Haas, Marjorie R. Grafe, Hannah C. Kinney, Henry F. Krous

Journal:

Rodriguez, Michael L., McMillan, Kristin, Crandall, Laura A., Minter, Megan E., Grafe, Marjorie R., Poduri, Annapurna, Kinney, Hannah C.

Année:

2012

Langue:

english

Fichier:

PDF, 174 KB

english, 2012

Hippocampal asymmetry and sudden unexpected death in infancy: a case report

Journal:

Forensic Science, Medicine, and Pathology

Année:

2012

Langue:

english

Fichier:

PDF, 778 KB

english, 2012

Dacrystic seizures: Demographic, semiologic, and etiologic insights from a multicenter study in long-term video-EEG monitoring units

Julie Blumberg, Iván Sánchez Fernández, Martina Vendrame, Bernhard Oehl, William O. Tatum, Stephan Schuele, Andreas V. Alexopoulos, Annapurna Poduri, Christoph Kellinghaus, Andreas Schulze-Bonhage, To

Journal:

The American Journal of Human Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 496 KB

english, 2012

Mutations in QARS, Encoding Glutaminyl-tRNA Synthetase, Cause Progressive Microcephaly, Cerebral-Cerebellar Atrophy, and Intractable Seizures

Zhang, Xiaochang, Ling, Jiqiang, Barcia, Giulia, Jing, Lili, Wu, Jiang, Barry, Brenda J., Mochida, Ganeshwaran H., Hill, R. Sean, Weimer, Jill M., Stein, Quinn, Poduri, Annapurna, Partlow, Jennifer N.

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 2.38 MB

english, 2014

Focal cortical dysplasia is more common in boys than in girls

Ortiz-González, Xilma R., Poduri, Annapurna, Roberts, Colin M., Sullivan, Joseph E., Marsh, Eric D., Porter, Brenda E.

Journal:

Epilepsy & Behavior

Année:

2013

Langue:

english

Fichier:

PDF, 148 KB

english, 2013

Clobazam: Effect on Frequency of Seizures and Safety Profile in Different Subgroups of Children With Epilepsy

Klehm, Jacquelyn, Thome-Souza, Sigride, Sánchez Fernández, Iván, Bergin, Ann M., Bolton, Jeffrey, Harini, Chellamani, Kadish, Navah E., Libenson, Mark, Peters, Jurriaan, Poduri, Annapurna, Rotenberg,

Journal:

Pinto, Anna L.R., Lohani, Subash, Bergin, Ann M.R., Bourgeois, Blaise F.D., Black, Peter M., Prabhu, Sanjay P., Madsen, Joseph R., Takeoka, Masanori, Poduri, Annapurna

Année:

2014

Langue:

english

Fichier:

PDF, 269 KB

english, 2014

Migrating partial seizures of infancy: delineation of the clinical and genetic features in a national patient cohort

McTague, Amy, Appleton, Richard, Cross, J Helen, Jacques, Thomas S, Meyer, Esther, Poduri, Annapurna, Scheffer, Ingrid, Kneen, Rachel, Kurian, Manju A

Journal:

The Lancet

Année:

2014

Langue:

english

Fichier:

PDF, 51 KB

english, 2014

Altered white matter connectivity and network organization in polymicrogyria revealed by individual gyral topology-based analysis

Im, Kiho, Paldino, Michael J., Poduri, Annapurna, Sporns, Olaf, Grant, P. Ellen

Journal:

NeuroImage

Année:

2014

Langue:

english

Fichier:

PDF, 1.13 MB

english, 2014

Surgery for Intractable Epilepsy Due to Unilateral Brain Disease: A Retrospective Study Comparing Hemispherectomy Techniques

Journal:

Pinto, Anna L.R., Lohani, Subash, Bergin, Ann M.R., Bourgeois, Blaise F.D., Black, Peter M., Prabhu, Sanjay P., Madsen, Joseph R., Takeoka, Masanori, Poduri, Annapurna

Année:

2014

Langue:

english

Fichier:

PDF, 572 KB

english, 2014

Non-steroidal anti-inflammatory drug use and Alzheimer's disease in Rochester, Minnesota

Journal:

Neurobiology of Aging

Année:

1994

Langue:

english

Fichier:

PDF, 168 KB

english, 1994

SLC25A22 is a novel gene for migrating partial seizures in infancy

Poduri, Annapurna, Heinzen, Erin L., Chitsazzadeh, Vida, Lasorsa, Francesco Massimo, Elhosary, P. Christina, LaCoursiere, Christopher M., Martin, Emilie, Yuskaitis, Christopher J., Hill, Robert Sean,

Journal:

Poduri, Annapurna, Sheidley, Beth Rosen, Shostak, Sara, Ottman, Ruth

Année:

2013

Langue:

english

Fichier:

PDF, 664 KB

english, 2013

Genetic testing in the epilepsies—developments and dilemmas

Journal:

Nature Reviews Neurology (formerly Nature Clinical Practice Neurology)

Année:

2014

Langue:

english

Fichier:

PDF, 629 KB

english, 2014

Polymicrogyria-associated epilepsy: A multicenter phenotypic study from the Epilepsy Phenome/Genome Project

Shain, Catherine, Ramgopal, Sriram, Fallil, Zianka, Parulkar, Isha, Alongi, Richard, Knowlton, Robert, Poduri, Annapurna

Journal:

Poduri, Annapurna, Salih, Mustafa, Walsh, Christopher A.

Année:

2013

Langue:

english

Fichier:

PDF, 210 KB

english, 2013

Reply

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 49 KB

english, 2014

A channel for precision diagnosis and treatment in genetic epilepsy

Poduri, Annapurna

Journal:

Année:

2014

Langue:

english

Fichier:

PDF, 48 KB

english, 2014

DEPDC5 does it all: Shared genetics for diverse epilepsy syndromes

Poduri, Annapurna

Journal:

Pescosolido, Matthew F., Stein, David M., Schmidt, Michael, El Achkar, Christelle Moufawad, Sabbagh, Mark, Rogg, Jeffrey M., Tantravahi, Umadevi, McLean, Rebecca L., Liu, Judy S., Poduri, Annapurna, M

Année:

2014

Langue:

english

Fichier:

PDF, 56 KB

english, 2014

Genetic and phenotypic diversity of NHE 6 mutations in Christianson syndrome

Journal:

Olson, Heather E., Lechpammer, Mirna, Prabhu, Sanjay P., Ciarlini, Pedro D.S.C., Poduri, Annapurna, Gooty, Vasu D., Anjum, Muhammad W., Gorman, Mark P., Loddenkemper, Tobias

Année:

2014

Langue:

english

Fichier:

PDF, 713 KB

english, 2014

Clinical application and evaluation of the Bien diagnostic criteria for Rasmussen encephalitis

Journal:

Année:

2013

Langue:

english

Fichier:

PDF, 485 KB

english, 2013

Whole genome sequencing identifies SCN2A mutation in monozygotic twins with Ohtahara syndrome and unique neuropathologic findings

Touma, Marlin, Joshi, Mugdha, Connolly, Meghan C., Ellen Grant, P., Hansen, Anne R., Khwaja, Omar, Berry, Gerard T., Kinney, Hannah C., Poduri, Annapurna, Agrawal, Pankaj B.

Journal: