Reassessing carrier status for dystrophinopathies

Por Newcomb, Tara M., Flanigan, Kevin M.
Publicado no Neurol Genet (2016)

New Therapeutic Approaches to Spinal Muscular Atrophy

Por Lewelt, Aga, Newcomb, Tara M., Swoboda, Kathryn J.
Publicado em 2012

The Expanding Spectrum of Neurological Phenotypes in Children With ATP1A3 Mutations, Alternating Hemiplegia of Childhood, Rapid-onset Dystonia-Parkinsonism, CAPOS and Beyond

Por Sweney, Matthew T., Newcomb, Tara M., Swoboda, Kathryn J.
Publicado no Pediatr Neurol (2014)

Perceptions of Equine Assisted Activities and Therapies by Parents and Children with Spinal Muscular Atrophy

Por Lemke, Danielle, Rothwell, Erin, Newcomb, Tara M., Swoboda, Kathryn J.
Publicado em 2014

NALCN channelopathies: Distinguishing gain-of-function and loss-of-function mutations

Por Bend, Eric G., Si, Yue, Stevenson, David A., Bayrak-Toydemir, Pinar, Newcomb, Tara M., Jorgensen, Erik M., Swoboda, Kathryn J.
Publicado no Neurology (2016)

A Novel Germline PIGA Mutation in Ferro-Cerebro-Cutaneous Syndrome: A Neurodegenerative X-Linked Epileptic Encephalopathy With Systemic Iron-Overload

Por Swoboda, Kathryn J., Margraf, Rebecca L., Carey, John C., Zhou, Holly, Newcomb, Tara M., Coonrod, Emily, Durtschi, Jacob, Mallempati, Kalyan, Kumanovics, Attila, Katz, Ben E., Voelkerding, Karl V., Opitz, John M.
Publicado no Am J Med Genet A (2013)

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

Por Butterfield, Russell J., Stevenson, Tamara J., Xing, Lingyan, Newcomb, Tara M., Nelson, Benjamin, Zeng, Wenqi, Li, Xiang, Lu, Hsiao-Mei, Lu, Hong, Farwell Gonzalez, Kelly D., Wei, Jia-Perng, Chao, Elizabeth C., Prior, Thomas W., Snyder, Pamela J., Bonkowsky, Joshua L., Swoboda, Kathryn J.
Publicado em 2014

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Por Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J., Newcomb, Tara M., Reyna, Sandra P., Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L., Brown, Candida, Brunkow, Mary E., Chugani, Harry T., Cheyette, Sarah R., Collins, Abigail, DeBrosse, Suzanne D., Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B., King, Mary D., LaSalle, Bernie, Leventer, Richard J., Lewelt, Aga J., Massart, Mylynda B., Mérida, Mario R., Ptáček, Louis J., Roach, Jared C., Rust, Robert S., Renault, Francis, Sanger, Terry D., Sotero de Menezes, Marcio A., Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J.
Publicado no PLoS One (2015)

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry

Por Viollet, Louis, Glusman, Gustavo, Murphy, Kelley J., Newcomb, Tara M., Reyna, Sandra P., Sweney, Matthew, Nelson, Benjamin, Andermann, Frederick, Andermann, Eva, Acsadi, Gyula, Barbano, Richard L., Brown, Candida, Brunkow, Mary E., Chugani, Harry T., Cheyette, Sarah R., Collins, Abigail, DeBrosse, Suzanne D., Galas, David, Friedman, Jennifer, Hood, Lee, Huff, Chad, Jorde, Lynn B., King, Mary D., LaSalle, Bernie, Leventer, Richard J., Lewelt, Aga J., Massart, Mylynda B., Mérida, Mario R., Ptáček, Louis J., Roach, Jared C., Rust, Robert S., Renault, Francis, Sanger, Terry D., Sotero de Menezes, Marcio A., Tennyson, Rachel, Uldall, Peter, Zhang, Yue, Zupanc, Mary, Xin, Winnie, Silver, Kenneth, Swoboda, Kathryn J.
Publicado no PLoS One (2015)

De novo mutations in ATP1A3 cause alternating hemiplegia of childhood

Por Heinzen, Erin L., Swoboda, Kathryn J., Hitomi, Yuki, Gurrieri, Fiorella, Nicole, Sophie, de Vries, Boukje, Tiziano, F. Danilo, Fontaine, Bertrand, Walley, Nicole M., Heavin, Sinéad, Panagiotakaki, Eleni, Fiori, Stefania, Abiusi, Emanuela, Di Pietro, Lorena, Sweney, Matthew T., Newcomb, Tara M., Viollet, Louis, Huff, Chad, Jorde, Lynn B., Reyna, Sandra P., Murphy, Kelley J., Shianna, Kevin V., Gumbs, Curtis E., Little, Latasha, Silver, Kenneth, Ptác̆ek, Louis J., Haan, Joost, Ferrari, Michel D., Bye, Ann M., Herkes, Geoffrey K., Whitelaw, Charlotte M., Webb, David, Lynch, Bryan J., Uldall, Peter, King, Mary D., Scheffer, Ingrid E., Neri, Giovanni, Arzimanoglou, Alexis, van den Maagdenberg, Arn M.J.M., Sisodiya, Sanjay M., Mikati, Mohamad A., Goldstein, David B., Nicole, Sophie, Gurrieri, Fiorella, Neri, Giovanni, de Vries, Boukje, Koelewijn, Stephany, Kamphorst, Jessica, Geilenkirchen, Marije, Pelzer, Nadine, Laan, Laura, Haan, Joost, Ferrari, Michel, van den Maagdenberg, Arn, Zucca, Claudio, Bassi, Maria Teresa, Franchini, Filippo, Vavassori, Rosaria, Giannotta, Melania, Gobbi, Giuseppe, Granata, Tiziana, Nardocci, Nardo, De Grandis, Elisa, Veneselli, Edvige, Stagnaro, Michela, Gurrieri, Fiorella, Neri, Giovanni, Vigevano, Federico, Panagiotakaki, Eleni, Oechsler, Claudia, Arzimanoglou, Alexis, Nicole, Sophie, Giannotta, Melania, Gobbi, Giuseppe, Ninan, Miriam, Neville, Brian, Ebinger, Friedrich, Fons, Carmen, Campistol, Jaume, Kemlink, David, Nevsimalova, Sona, Laan, Laura, Peeters-Scholte, Cacha, van den Maagdenberg, Arn, Casaer, Paul, Casari, Giorgio, Sange, Guenter, Spiel, Georg, Boneschi, Filippo Martinelli, Zucca, Claudio, Bassi, Maria Teresa, Schyns, Tsveta, Crawley, Francis, Poncelin, Dominique, Vavassori, Rosaria
Publicado em 2012