Alpers–Huttenlocher syndrome: the role of a multidisciplinary health care team

Por Saneto, Russell P
Publicado no J Multidiscip Healthc (2016)

The genetics of Leigh syndrome and its implications for clinical practice and risk management

Por Ruhoy, Ilene S, Saneto, Russell P
Publicado no Appl Clin Genet (2014)

Onset of action and seizure control in Lennox-Gaustaut syndrome: focus on rufinamide

Por Saneto, Russell P, Anderson, Gail D
Publicado em 2009

Illness-induced exacerbation of Leigh syndrome in a patient with the MTATP6 mutation, m. 9185 T>C

Por Saneto, Russell P., Singh, Keshav K.
Publicado em 2010

Mitochondrial Disease in Childhood: mtDNA Encoded

Por Saneto, Russell P., Sedensky, Margret M.
Publicado em 2012

Clinical and Molecular Features of POLG-Related Mitochondrial Disease

Por Stumpf, Jeffrey D., Saneto, Russell P., Copeland, William C.
Publicado em 2013

Neuroimaging of Mitochondrial Disease

Por Saneto, Russell P., Friedman, Seth D., Shaw, Dennis W. W.
Publicado em 2008

Alpers-Huttenlocher syndrome: A review

Por Saneto, Russell P., Cohen, Bruce H., Copeland, William C., Naviaux, Robert K.
Publicado em 2013

A Neurodegenerative Mitochondrial Disease Phenotype Due to Biallelic Loss-of-function Variants in PNPLA8 Encoding Calcium-independent Phospholipase A2γ

Por Shukla, Anju, Saneto, Russell P, Hebbar, Malavika, Mirzaa, Ghayda, Girisha, Katta M
Publicado no Am J Med Genet A (2018)

POLG DNA testing as an emerging standard of care before instituting valproic acid therapy for pediatric seizure disorders

Por Saneto, Russell P., Lee, Inn-Chi, Koenig, Mary Kay, Bao, Xinhua, Weng, Shao-Wen, Naviaux, Robert K., Wong, Lee-Jun C.
Publicado em 2010

The In-Depth Evaluation of Suspected Mitochondrial Disease: The Mitochondrial Medicine Society's Committee on Diagnosis

Por Haas, Richard H., Parikh, Sumit, Falk, Marni J., Saneto, Russell P., Wolf, Nicole I., Darin, Niklas, Wong, Lee-Jun, Cohen, Bruce H., Naviaux, Robert K.
Publicado em 2008

Initial Treatment for Nonsyndromic Early-Life Epilepsy: An Unexpected Consensus

Por Shellhaas, Renée A., Berg, Anne T., Grinspan, Zachary M., Wusthoff, Courtney J., Millichap, John J., Loddenkemper, Tobias, Coryell, Jason, Saneto, Russell P., Chu, Catherine J., Joshi, Sucheta M., Sullivan, Joseph E., Knupp, Kelly G., Kossoff, Eric H., Keator, Cynthia, Wirrell, Elaine C., Mytinger, John R., Valencia, Ignacio, Massey, Shavonne, Gaillard, William D.
Publicado no Pediatr Neurol (2017)

Molecular and Clinical Genetics of Mitochondrial Diseases Due to POLG Mutations

Por Wong, Lee-Jun C., Naviaux, Robert K., Brunetti-Pierri, Nicola, Zhang, Qing, Schmitt, Eric S., Truong, Cavatina, Milone, Margherita, Cohen, Bruce H., Wical, Beverly, Ganesh, Jaya, Basinger, Alice A., Burton, Barbara K., Swoboda, Kathryn, Gilbert, Donald L., Vanderver, Adeline, Saneto, Russell P., Maranda, Bruno, Arnold, Georgianne, Abdenur, Jose E., Waters, Paula J., Copeland, William C.
Publicado em 2008

Why West? Comparisons of clinical, genetic and molecular features of infants with and without spasms

Por Berg, Anne T., Chakravorty, Samya, Koh, Sookyong, Grinspan, Zachary M., Shellhaas, Renée A., Saneto, Russell P., Wirrell, Elaine C., Coryell, Jason, Chu, Catherine J., Mytinger, John R., Gaillard, William D., Valencia, Ignacio, Knupp, Kelly G., Loddenkemper, Tobias, Sullivan, Joseph E., Poduri, Annapurna, Millichap, John J., Keator, Cynthia, Wusthoff, Courtney, Ryan, Nicole, Dobyns, William B., Hegde, Madhuri
Publicado no PLoS One (2018)

Early-Life Epilepsies and the Emerging Role of Genetic Testing

Por Berg, Anne T., Coryell, Jason, Saneto, Russell P., Grinspan, Zachary M., Alexander, John J., Kekis, Mariana, Sullivan, Joseph E., Wirrell, Elaine C., Shellhaas, Renée A., Mytinger, John R., Gaillard, William D., Kossoff, Eric H., Valencia, Ignacio, Knupp, Kelly G., Wusthoff, Courtney, Keator, Cynthia, Dobyns, William B., Ryan, Nicole, Loddenkemper, Tobias, Chu, Catherine J., Novotny, Edward J., Koh, Sookyong
Publicado no JAMA Pediatr (2017)

The impact of hypsarrhythmia on infantile spasms treatment response: Observational cohort study from the National Infantile Spasms Consortium

Por Demarest, Scott T., Shellhaas, Renée A., Gaillard, William D., Keator, Cynthia, Nickels, Katherine C., Hussain, Shaun A., Loddenkemper, Tobias, Patel, Anup D., Saneto, Russell P., Wirrell, Elaine, Fernández, Iván Sánchez, Chu, Catherine J., Grinspan, Zachary, Wusthoff, Courtney J., Joshi, Sucheta, Mohamed, Ismail S., Stafstrom, Carl E., Stack, Cynthia V., Yozawitz, Elissa, Bluvstein, Judith S., Singh, Rani K., Knupp, Kelly G.
Publicado no Epilepsia (2017)

Mutations in Prickle Orthologs Cause Seizures in Flies, Mice, and Humans

Por Tao, Hirotaka, Manak, J. Robert, Sowers, Levi, Mei, Xue, Kiyonari, Hiroshi, Abe, Takaya, Dahdaleh, Nader S., Yang, Tian, Wu, Shu, Chen, Shan, Fox, Mark H., Gurnett, Christina, Montine, Thomas, Bird, Thomas, Shaffer, Lisa G., Rosenfeld, Jill A., McConnell, Juliann, Madan-Khetarpal, Suneeta, Berry-Kravis, Elizabeth, Griesbach, Hilary, Saneto, Russell P., Scott, Matthew P., Antic, Dragana, Reed, Jordan, Boland, Riley, Ehaideb, Salleh N., El-Shanti, Hatem, Mahajan, Vinit B., Ferguson, Polly J., Axelrod, Jeffrey D., Lehesjoki, Anna-Elina, Fritzsch, Bernd, Slusarski, Diane C., Wemmie, John, Ueno, Naoto, Bassuk, Alexander G.
Publicado em 2011

Wide spectrum of developmental brain disorders from megalencephaly to focal cortical dysplasia and pigmentary mosaicism caused by mutations of MTOR

Por Mirzaa, Ghayda M., Campbell, Catarina D., Solovieff, Nadia, Goold, Carleton, Jansen, Laura A., Menon, Suchithra, Timms, Andrew E., Conti, Valerio, Biag, Jonathan D., Adams, Carissa, Boyle, Evan August, Collins, Sarah, Ishak, Gisele, Poliachik, Sandra, Girisha, Katta M., Yeung, Kit San, Chung, Brian Hon Yin, Rahikkala, Elisa, Gunter, Sonya A., McDaniel, Sharon S., Macmurdo, Colleen Forsyth, Bernstein, Jonathan A., Martin, Beth, Leary, Rebecca, Mahan, Scott, Liu, Shanming, Weaver, Molly, Doerschner, Michael, Jhangiani, Shalini, Muzny, Donna M., Boerwinkle, Eric, Gibbs, Richard A., Lupski, James R., Shendure, Jay, Saneto, Russell P., Novotny, Edward J., Wilson, Christopher J., Sellers, William R., Morrissey, Michael, Hevner, Robert F., Ojemann, Jeffrey G., Guerrini, Renzo, Murphy, Leon O., Winckler, Wendy, Dobyns, William B.
Publicado no JAMA Neurol (2016)