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1 |
Material Type: Artigo
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De novo mutations in ATP1A3 cause alternating hemiplegia of childhoodHEINZEN, Erin L ; SWOBODA, Kathryn J ; 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 ; HITOMI, Yuki ; MURPHY, Kelley J ; SHIANNA, Kevin V ; GUMBS, Curtis E ; LITTLE, Latasha ; SILVER, Kenneth ; PTACEK, Louis J ; HAAN, Joost ; FERRARI, Michel D ; BYE, Ann M ; HERKES, Geoffrey K ; GURRIERI, Fiorella ; 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 ; NICOLE, Sophie ; MIKATI, Mohamad A ; GOLDSTEIN, David B ; DE VRIES, Boukje ; TIZIANO, F. Danilo ; FONTAINE, Bertrand ; WALLEY, Nicole M ; HEAVIN, SineadNature genetics, 2012-09, Vol.44 (9), p.1030-1034 [Periódico revisado por pares]New York, NY: Nature Publishing GroupTexto completo disponível |
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2 |
Material Type: Artigo
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Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryViollet, 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, 2nd, 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 Zhou, FengfengPloS one, 2015-05, Vol.10 (5), p.e0127045-e0127045 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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3 |
Material Type: Artigo
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Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryViollet, 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, 2nd, 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 JPloS one, 2015-08, Vol.10 (8), p.e0137370-e0137370 [Periódico revisado por pares]United States: Public Library of ScienceTexto completo disponível |
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4 |
Material Type: Artigo
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Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF RegistryViollet, 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 JPLOS ONE, 2015-01, Vol.10 (8)eScholarship, University of CaliforniaSem texto completo |