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by Albareti, Franco D and Prieto, Carlos Allende and Almeida, Andres and Anders, Friedrich and Anderson, Scott and Andrews, Brett H and Aragón-Salamanca, Alfonso and Argudo-Fernández, Maria and Armengaud, Eric and Aubourg, Eric and Avila-Reese, Vladimir and Badenes, Carles and Bailey, Stephen and Barbuy, Beatriz and Barger, Kat and Barrera-Ballesteros, Jorge and Bartosz, Curtis and Basu, Sarbani and Bates, Dominic and Battaglia, Giuseppina and Baumgarten, Falk and Baur, Julien and Bautista, Julian and Beers, Timothy C and Belfiore, Francesco and Bershady, Matthew and De Lis, Sara Bertran and Bird, Jonathan C and Bizyaev, Dmitry and Blanc, Guillermo A and Blanton, Michael and Blomqvist, Michael and Bolton, Adam S and Borissova, J and Bovy, Jo and Brandt, William Nielsen and Brinkmann, Jonathan and Brownstein, Joel R and Bundy, Kevin and Burtin, Etienne and Busca, Nicolás G and Chavez, Hugo Orlando Camacho and Diaz, M. Cano and Cappellari, Michele and Carrera, Ricardo and Chen, Yanping and Cherinka, Brian and Cheung, Edmond and Chiappini, Cristina and Chojnowski, Drew and Chuang, Chia-Hsun and Chung, Haeun and Cirolini, Rafael Fernando and Clerc, Nicolas and Cohen, Roger E and Comerford, Julia M and Comparat, Johan and Correa Do Nascimento, Janaina and Cousinou, Marie-Claude and Covey, Kevin and Crane, Jeffrey D and Croft, Rupert and Cunha, Katia and Darling, Jeremy and Davidson, James W and Dawson, Kyle and Da Costa, Luiz and Da Silva Ilha, Gabriele and Machado, Alice Deconto and Delubac, Timothée and De Lee, Nathan and De La Macorra, Axel and De La Torre, Sylvain and Diamond-Stanic, Aleksandar M and Donor, John and Downes, Juan Jose and Drory, Niv and Du, Cheng and Du Mas Des Bourboux, Hélion and Dwelly, Tom and Ebelke, Garrett and Eigenbrot, Arthur and Eisenstein, Daniel J and Elsworth, Yvonne P and Emsellem, Eric and Eracleous, Michael and Escoffier, Stephanie and Evans, Michael L and Falcón-Barroso, Jesus and Fan, Xiaohui and Favole, Ginevra and Fernandez-Alvar, Emma and Fernandez-Trincado, J.G and Feuillet, Diane and Fleming, Scott W and Font-Ribera, Andreu and Freischlad, Gordon and Frinchaboy, Peter and Fu, Hai and Gao, Yang and ...
Astrophysical Journal, Supplement Series, ISSN 0067-0049, 12/2017, Volume 233, Issue 2, p. 25
The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) began observations in 2014 July. It pursues three core programs: the Apache Point Observatory... 
surveys | catalogs | atlases | POPULATION | TELESCOPE | STAR-FORMATION | MANGA | LAMOST | CATALOG | ASTRONOMY & ASTROPHYSICS | GAIA-ESO SURVEY | GAS | MILKY-WAY | EMISSION
Journal Article
Human Mutation, ISSN 1059-7794, 06/2012, Volume 33, Issue 6, pp. 981 - 988
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 04/2016, Volume 58, Issue 4, pp. 416 - 420
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 12/2015, Volume 167, Issue 12, pp. 3096 - 3102
Journal Article
Developmental Medicine & Child Neurology, ISSN 0012-1622, 04/2016, Volume 58, Issue 4, pp. 416 - 420
Journal Article
Prenatal Diagnosis, ISSN 0197-3851, 10/2015, Volume 35, Issue 10, pp. 1010 - 1017
Journal Article
by SDSS Collaboration and Albareti, Franco D and Prieto, Carlos Allende and Almeida, Andres and Anders, Friedrich and Anderson, Scott and Andrews, Brett H and Aragon-Salamanca, Alfonso and Argudo-Fernandez, Maria and Armengaud, Eric and Aubourg, Eric and Avila-Reese, Vladimir and Badenes, Carles and Bailey, Stephen and Barbuy, Beatriz and Barger, Kat and Barrera-Ballesteros, Jorge and Bartosz, Curtis and Basu, Sarbani and Bates, Dominic and Battaglia, Giuseppina and Baumgarten, Falk and Baur, Julien and Bautista, Julian and Beers, Timothy C and Belfiore, Francesco and Bershady, Matthew and de Lis, Sara Bertran and Bird, Jonathan C and Bizyaev, Dmitry and Blanc, Guillermo A and Blanton, Michael and Blomqvist, Michael and Bolton, Adam S and Borissova, J and Bovy, Jo and Brandt, William Nielsen and Brinkmann, Jonathan and Brownstein, Joel R and Bundy, Kevin and Burtin, Etienne and Busca, Nicolas G and Chavez, Hugo Orlando Camacho and Diaz, M. Cano and Cappellari, Michele and Carrera, Ricardo and Chen, Yanping and Cherinka, Brian and Cheung, Edmond and Chiappini, Cristina and Chojnowski, Drew and Chuang, Chia-Hsun and Chung, Haeun and Cirolini, Rafael Fernando and Clerc, Nicolas and Cohen, Roger E and Comerford, Julia M and Comparat, Johan and Cousinou, Marie-Claude and Covey, Kevin and Crane, Jeffrey D and Croft, Rupert and Cunha, Katia and da Costa, Luiz and Ilha, Gabriele da Silva and Darling, Jeremy and DavidsonJr, James W and Dawson, Kyle and De Lee, Nathan and de la Macorra, Axel and de la Torre, Sylvain and Machado, Alice Deconto and Delubac, Timothee and Diamond-Stanic, Aleksandar M and Donor, John and Downes, Juan Jose and Drory, Niv and Bourboux, Helion du Mas des and Du, Cheng and Dwelly, Tom and Ebelke, Garrett and Eigenbrot, Arthur and Eisenstein, Daniel J and Elsworth, Yvonne P and Emsellem, Eric and Eracleous, Michael and Escoffier, Stephanie and Evans, Michael L and Falcon-Barroso, Jesus and Fan, Xiaohui and Favole, Ginevra and Fernandez-Alvar, Emma and Fernandez-Trincado, J. G and Feuillet, Diane and Fleming, Scott W and Font-Ribera, Andreu and Freischlad, Gordon and Frinchaboy, Peter and Fu, Hai and Gao, Yang and ... and Lawrence Berkeley National Lab. (LBNL), Berkeley, CA (United States) and Brookhaven National Laboratory (BNL), Upton, NY (United States)
The Astrophysical Journal. Supplement Series (Online), ISSN 1538-4365, 08/2016, Volume 233, Issue 2
The fourth generation of the Sloan Digital Sky Survey (SDSS-IV) began observations in July 2014. It pursues three core programs: APOGEE-2, MaNGA, and eBOSS. In... 
Physics - Astrophysics of Galaxies | ASTRONOMY AND ASTROPHYSICS | surveys | catalogs | atlases
Journal Article
by Albareti, Franco D and Allende Prieto, Carlos and Almeida, Andres and Anders, Friedrich and Anderson, Scott and Andrews, Brett H and Aragon-Salamanca, Alfonso and Argudo-Fernandez, Maria and Armengaud, Eric and Aubourg, Eric and Avila-Reese, Vladimir and Badenes, Carles and Bailey, Stephen and Barbuy, Beatriz and Barger, Kat and Barrera-Ballesteros, Jorge and Bartosz, Curtis and Basu, Sarbani and Bates, Dominic and Battaglia, Giuseppina and Baumgarten, Falk and Baur, Julien and Bautista, Julian and Beers, Timothy C and Belfiore, Francesco and Bershady, Matthew and Bertran de Lis, Sara and Bird, Jonathan C and Bizyaev, Dmitry and Blanc, Guillermo A and Blanton, Michael and Blomqvist, Michael and Bolton, Adam S and Borissova, J and Bovy, Jo and Brandt, William Nielsen and Brinkmann, Jonathan and Brownstein, Joel R and Bundy, Kevin and Burtin, Etienne and Busca, Nicolas G and Camacho Chavez, Hugo Orlando and Diaz, M Cano and Cappellari, Michele and Carrera, Ricardo and Chen, Yanping and Cherinka, Brian and Cheung, Edmond and Chiappini, Cristina and Chojnowski, Drew and Chuang, Chia-Hsun and Chung, Haeun and Cirolini, Rafael Fernando and Clerc, Nicolas and Cohen, Roger E and Comerford, Julia M and Comparat, Johan and do Nascimento, Janaina Correa and Cousinou, Marie-Claude and Covey, Kevin and Crane, Jeffrey D and Croft, Rupert and Cunha, Katia and Darling, Jeremy and Jr, Davidson James W and Dawson, Kyle and Da Costa, Luiz and Ilha, Gabriele Da Silva and Machado, Alice Deconto and Delubac, Timothee and De Lee, Nathan and De la Macorra, Axel and De la Torre, Sylvain and Diamond-Stanic, Aleksandar M and Donor, John and Jose Downes, Juan and Drory, Niv and Du, Cheng and Bourboux, Helion Du Mas des and Dwelly, Tom and Ebelke, Garrett and Eigenbrot, Arthur and Eisenstein, Daniel J and Elsworth, Yvonne P and Emsellem, Eric and Eracleous, Michael and Escoffier, Stephanie and Evans, Michael L and Falcon-Barroso, Jesus and Fan, Xiaohui and Favole, Ginevra and Fernandez-Alvar, Emma and Fernandez-Trincado, JG and Feuillet, Diane and Fleming, Scott W and Font-Ribera, Andreu and Freischlad, Gordon and Frinchaboy, Peter and Fu, Hai and Gao, Yang and ...
ISSN 0067-0049, 2017
Journal Article
Neurology, ISSN 0028-3878, 01/2018, Volume 90, Issue 1, pp. e55 - e66
OBJECTIVETo characterize the phenotypic spectrum, molecular genetic findings, and functional consequences of pathogenic variants in early-onset KCNT1 epilepsy.... 
ENCEPHALOPATHY | MIGRATING PARTIAL SEIZURES | SPECTRUM | QUINIDINE THERAPY | KCNT1 MUTATION | INFANCY | GAIN | CLINICAL NEUROLOGY | POTASSIUM CHANNEL
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 05/2016, Volume 53, Issue 5, p. 310
BackgroundWe sought to investigate the diagnostic yield and mutation spectrum in previously reported genes for early-onset epilepsy and disorders of severe... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 01/2016, Volume 117, Issue 1, pp. 42 - 48
We describe neurotransmitter abnormalities in two patients with drug-resistant epilepsy resulting from deleterious de novo mutations in sodium channel genes.... 
Nav1.6 | Therapy | Dopamine | Serotonin | Channelopathy | Nav1.2 | SCN8A | SCN2A | Seizures | 1.2 | 1.6 | MEDICINE, RESEARCH & EXPERIMENTAL | Na(v)1.2 | HUMAN BRAIN | CLINICAL SPECTRUM | SCN2A MUTATIONS | NEUROLOGICAL DISORDERS | CEREBROSPINAL-FLUID | INTELLECTUAL DISABILITY | ENCEPHALOPATHY | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | CHANNELS | Na(v)1.6 | Seizures - genetics | Humans | Tetrahydrofolates - cerebrospinal fluid | Hydroxyindoleacetic Acid - cerebrospinal fluid | Epilepsy - metabolism | Male | Channelopathies - metabolism | Mutation, Missense | Autistic Disorder - etiology | Drug Resistant Epilepsy - drug therapy | Muscle Hypotonia - etiology | Exome | Epilepsy - genetics | Female | Homovanillic Acid - cerebrospinal fluid | Child | Sodium Channels - deficiency | Autistic Disorder - genetics | Drug Resistant Epilepsy - metabolism | Muscle Hypotonia - genetics | Receptors, Dopamine - metabolism | NAV1.2 Voltage-Gated Sodium Channel - genetics | Neurotransmitter Agents - metabolism | Neurotransmitter Agents - deficiency | Sequence Analysis, DNA | Channelopathies - drug therapy | Seizures - etiology | Epilepsy - drug therapy | NAV1.6 Voltage-Gated Sodium Channel - genetics | Sodium Channels - genetics | GABA | Cellular signal transduction | Seizures (Medicine) | Analysis | Epilepsy | Index Medicus
Journal Article