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

Epileptic spasms as the presenting seizure type in a patient with a new “O” of TORCH, congenital Zika virus infection

Por Lockrow, Jason, Tully, Hannah, Saneto, Russell P.
Publicado no Epilepsy Behav Case Rep (2018)

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)

A Modern Approach to the Treatment of Mitochondrial Disease

Por Parikh, Sumit, Saneto, Russell, Falk, Marni J., Anselm, Irina, Cohen, Bruce H., Haas, Richard
Publicado em 2009

Mutations of KIF5C cause a neurodevelopmental disorder of infantile-onset epilepsy, absent language, and distinctive malformations of cortical development

Por Michels, Savannah, Foss, Kimberly, Park, Kaylee, Golden-Grant, Katie, Saneto, Russell, Lopez, Jonathan, Mirzaa, Ghayda M
Publicado no Am J Med Genet A (2017)

Functional analysis of a novel mutation in the TIMM8A gene that causes deafness‐dystonia‐optic neuronopathy syndrome

Por Neighbors, Addison, Moss, Tonya, Holloway, Lynda, Yu, Seok‐Ho, Annese, Fran, Skinner, Steve, Saneto, Russell, Steet, Richard
Publicado no Mol Genet Genomic Med (2020)

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

Dose-Ranging Effect of Adjunctive Oral Cannabidiol vs Placebo on Convulsive Seizure Frequency in Dravet Syndrome: A Randomized Clinical Trial

Por Miller, Ian, Scheffer, Ingrid E., Gunning, Boudewijn, Sanchez-Carpintero, Rocio, Gil-Nagel, Antonio, Perry, M. Scott, Saneto, Russell P., Checketts, Daniel, Dunayevich, Eduardo, Knappertz, Volker
Publicado no JAMA Neurol (2020)

Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society

Por Parikh, Sumit, Goldstein, Amy, Koenig, Mary Kay, Scaglia, Fernando, Enns, Gregory M., Saneto, Russell, Anselm, Irina, Cohen, Bruce H., Falk, Marni J., Greene, Carol, Gropman, Andrea L., Haas, Richard, Hirano, Michio, Morgan, Phil, Sims, Katherine, Tarnopolsky, Mark, Van Hove, Johan L.K., Wolfe, Lynne, DiMauro, Salvatore
Publicado no Genet Med (2014)

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)