Sanfilippo A Syndrome SULFAMIDASE DEFICIENCY IN CULTURED SKIN FIBROBLASTS AND LIVER

Por Matalon, Reuben, Dorfman, Albert
Publicado em 1974

Modification of Aspartoacylase for Potential Use in Enzyme Replacement Therapy for the Treatment of Canavan Disease

Por Zano, Stephen, Malik, Radhika, Szucs, Sylvia, Matalon, Reuben, Viola, Ronald E.
Publicado em 2010

Cystic Fibrosis: Fractionation of Fibroblast Media Demonstrating Ciliary Inhibition

Por Bowman, Barbara H., Barnett, Don R., Matalon, Reuben, Danes, B. Shannon, Bearn, Alexander G.
Publicado em 1973

Association between Cytokine Gene Polymorphisms and Risk for Upper Respiratory Tract Infection and Acute Otitis Media

Por Revai, Krystal, Patel, Janak A, Grady, James J, Nair, Sangeeta, Matalon, Reuben, Chonmaitree, Tasnee
Publicado em 2009

Polymorphisms of Immunity Genes and Susceptibility to Otitis Media in Children

Por Nokso-Koivisto, Johanna, Chonmaitree, Tasnee, Jennings, Kristofer, Matalon, Reuben, Block, Stan, Patel, Janak A.
Publicado em 2014

Aspartoacylase deficiency affects early postnatal development of oligodendrocytes and myelination

Por Mattan, Natalia S., Ghiani, Cristina A., Lloyd, Marcia, Matalon, Reuben, Bok, Dean, Casaccia, Patrizia, de Vellis, Jean
Publicado em 2010

Acute Otitis Media Severity: Association with Cytokine Gene polymorphisms and other Risk Factors

Por McCormick, David P., Grady, James J., Diego, Alejandro, Matalon, Reuben, Revai, Krystal, Patel, Janak A., Han, Yimei, Chonmaitree, Tasnee
Publicado em 2011

Redirecting N-acetylaspartate metabolism in the central nervous system normalizes myelination and rescues Canavan disease

Por Gessler, Dominic J., Li, Danning, Xu, Hongxia, Su, Qin, Sanmiguel, Julio, Tuncer, Serafettin, Moore, Constance, King, Jean, Matalon, Reuben, Gao, Guangping
Publicado no JCI Insight (2017)

Defective N-acetylaspartate catabolism reduces brain acetate levels and myelin lipid synthesis in Canavan's disease

Por Madhavarao, Chikkathur N., Arun, Peethambaran, Moffett, John R., Szucs, Sylvia, Surendran, Sankar, Matalon, Reuben, Garbern, James, Hristova, Diana, Johnson, Anne, Jiang, Wei, Namboodiri, M. A. Aryan
Publicado em 2005

Acute Otitis Media and Other Complications of Viral Respiratory Infection

Por Chonmaitree, Tasnee, Trujillo, Rocio, Jennings, Kristofer, Alvarez-Fernandez, Pedro, Patel, Janak A., Loeffelholz, Michael J., Nokso-Koivisto, Johanna, Matalon, Reuben, Pyles, Richard B., Miller, Aaron L., McCormick, David P.
Publicado no Pediatrics (2016)

rAAV Gene Therapy in a Canavan's Disease Mouse Model Reveals Immune Impairments and an Extended Pathology Beyond the Central Nervous System

Por Ahmed, Seemin Seher, Schattgen, Stefan A, Frakes, Ashley E, Sikoglu, Elif M, Su, Qin, Li, Jia, Hampton, Thomas G, Denninger, Andrew R, Kirschner, Daniel A, Kaspar, Brian, Matalon, Reuben, Gao, Guangping
Publicado no Mol Ther (2016)

Correction of kinetic and stability defects by tetrahydrobiopterin in phenylketonuria patients with certain phenylalanine hydroxylase mutations

Por Erlandsen, Heidi, Pey, Angel L., Gámez, Alejandra, Pérez, Belén, Desviat, Lourdes R., Aguado, Cristina, Koch, Richard, Surendran, Sankar, Tyring, Stephen, Matalon, Reuben, Scriver, Charles R., Ugarte, Magdalena, Martínez, Aurora, Stevens, Raymond C.
Publicado em 2004

Neurodevelopmental and neurobehavioral characteristics in males and females with CDKL5 duplications

Por Szafranski, Przemyslaw, Golla, Sailaja, Jin, Weihong, Fang, Ping, Hixson, Patricia, Matalon, Reuben, Kinney, Daniel, Bock, Hans-georg, Craigen, William, Smith, Janice L, Bi, Weimin, Patel, Ankita, Wai Cheung, Sau, Bacino, Carlos A, Stankiewicz, Paweł
Publicado no Eur J Hum Genet (2015)

A Single Intravenous rAAV Injection as Late as P20 Achieves Efficacious and Sustained CNS Gene Therapy in Canavan Mice

Por Ahmed, Seemin Seher, Li, Huapeng, Cao, Chunyan, Sikoglu, Elif M, Denninger, Andrew R, Su, Qin, Eaton, Samuel, Liso Navarro, Ana A, Xie, Jun, Szucs, Sylvia, Zhang, Hongwei, Moore, Constance, Kirschner, Daniel A, Seyfried, Thomas N, Flotte, Terence R, Matalon, Reuben, Gao, Guangping
Publicado em 2013

Deletions in chromosome 6p22.3-p24.3, including <it>ATXN1</it>, are associated with developmental delay and autism spectrum disorders

Por Celestino-Soper Patrícia BS, Skinner Cindy, Schroer Richard, Eng Patricia, Shenai Jayant, Nowaczyk Malgorzata MJ, Terespolsky Deborah, Cushing Donna, Patel Gayle S, Immken LaDonna, Willis Alecia, Wiszniewska Joanna, Matalon Reuben, Rosenfeld Jill A, Stevenson Roger E, Kang Sung-Hae L, Cheung Sau, Beaudet Arthur L, Stankiewicz Pawel
Publicado em 2012-04-01

Deletions in chromosome 6p22.3-p24.3, including ATXN1, are associated with developmental delay and autism spectrum disorders

Por Celestino-Soper, Patrícia BS, Skinner, Cindy, Schroer, Richard, Eng, Patricia, Shenai, Jayant, Nowaczyk, Malgorzata MJ, Terespolsky, Deborah, Cushing, Donna, Patel, Gayle S, Immken, LaDonna, Willis, Alecia, Wiszniewska, Joanna, Matalon, Reuben, Rosenfeld, Jill A, Stevenson, Roger E, Kang, Sung-Hae L, Cheung, Sau Wai, Beaudet, Arthur L, Stankiewicz, Pawel
Publicado em 2012