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Wyszukujesz frazę ""Schneider, Amy L."" wg kryterium: Autor


Tytuł :
NEXMIF encephalopathy: an X-linked disorder with male and female phenotypic patterns
Autorzy :
Stamberger, HannahAff1, Aff2
Hammer, Trine B.Aff3, Aff4
Gardella, ElenaAff3, Aff5
Vlaskamp, Danique R. M.Aff1, Aff6, Aff7
Bertelsen, Birgitte
Mandelstam, SimoneAff9, Aff10, Aff11, Aff12, Aff13
de Lange, Iris
Zhang, Jing
Myers, Candace T.
Fenger, Christina
Afawi, Zaid
Almanza Fuerte, Edith P.
Andrade, Danielle M.
Balcik, Yunus
Ben Zeev, BruriaAff20, Aff21
Bennett, Mark F.Aff1, Aff22, Aff23
Berkovic, Samuel F.
Isidor, Bertrand
Bouman, Arjan
Brilstra, Eva
Busk, Øyvind L.
Cairns, Anita
Caumes, Roseline
Chatron, Nicolas
Dale, Russell C.
de Geus, Christa
Edery, PatrickAff29, Aff32
Gill, Deepak
Granild-Jensen, Jacob Bie
Gunderson, Lauren
Gunning, Boudewijn
Heimer, GaliAff20, Aff21
Helle, Johan R.
Hildebrand, Michael S.Aff1, Aff10
Hollingsworth, Georgie
Kharytonov, Volodymyr
Klee, Eric W.Aff34, Aff37
Koeleman, Bobby P. C.
Koolen, David A.
Korff, Christian
Küry, Sébastien
Lesca, Gaetan
Lev, DoritAff21, Aff40
Leventer, Richard J.Aff9, Aff10, Aff11
Mackay, Mark T.Aff9, Aff10, Aff11
Macke, Erica L.
McEntagart, Meriel
Mohammad, Shekeeb S.
Monin, Pauline
Montomoli, Martino
Morava, EvaAff34, Aff37
Moutton, SebastienAff43, Aff44
Muir, Alison M.
Parrini, Elena
Procopis, PeterAff30, Aff45
Ranza, Emmanuelle
Reed, Laura
Reif, Philipp S.
Rosenow, Felix
Rossi, MassimilianoAff29, Aff32
Sadleir, Lynette G.
Sadoway, Tara
Schelhaas, Helenius J.
Schneider, Amy L.
Shah, Krati
Shalev, Ruth
Sisodiya, Sanjay M.
Smol, Thomas
Stumpel, Connie T. R. M.
Stuurman, Kyra
Symonds, Joseph D.Aff54, Aff55
Mau-Them, Frederic TranAff56, Aff57
Verbeek, Nienke
Verhoeven, Judith S.
Wallace, GeoffreyAff27, Aff59
Yosovich, Keren
Zarate, Yuri A.
Zerem, AyeletAff21, Aff62
Zuberi, Sameer M.Aff54, Aff55
Guerrini, Renzo
Mefford, Heather C.
Patel, Chirag
Zhang, Yue-Hua
Møller, Rikke S.Aff3, Aff5
Scheffer, Ingrid E.Aff1, Aff9, Aff10, Aff11, Aff13
Pokaż więcej
Źródło :
Genetics in Medicine: Official journal of the American College of Medical Genetics and Genomics. 23(2):363-373
Czasopismo naukowe
Tytuł :
Familial adult myoclonic epilepsy type 1 SAMD12 TTTCA repeat expansion arose 17,000 years ago and is present in Sri Lankan and Indian families
Autorzy :
Bennett, Mark F.Aff1, Aff2, Aff3
Oliver, Karen L.Aff1, Aff3
Regan, Brigid M.
Bellows, Susannah T.
Schneider, Amy L.
Rafehi, HaloomAff1, Aff2, Aff3
Sikta, Neblina
Crompton, Douglas E.Aff3, Aff4
Coleman, Matthew
Hildebrand, Michael S.Aff3, Aff5
Corbett, Mark A.
Kroes, Thessa
Gecz, JozefAff6, Aff7
Scheffer, Ingrid E.Aff3, Aff5, Aff8, Aff9
Berkovic, Samuel F.
Bahlo, MelanieAff1, Aff2
Pokaż więcej
Źródło :
European Journal of Human Genetics. 28(7):973-978
Czasopismo naukowe
Tytuł :
Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2
Autorzy :
Corbett, Mark A.
Kroes, Thessa
Veneziano, Liana
Bennett, Mark F.Aff3, Aff4, Aff5
Florian, Rahel
Schneider, Amy L.
Coppola, Antonietta
Licchetta, LauraAff8, Aff9
Franceschetti, SilvanaAff10, Aff11
Suppa, AntonioAff12, Aff13
Wenger, Aaron
Mei, Davide
Pendziwiat, Manuela
Kaya, Sabine
Delledonne, Massimo
Straussberg, RachelAff18, Aff19
Xumerle, Luciano
Regan, Brigid
Crompton, DouglasAff5, Aff21
van Rootselaar, Anne-Fleur
Correll, Anthony
Catford, Rachael
Bisulli, FrancescaAff8, Aff9
Chakraborty, Shreyasee
Baldassari, Sara
Tinuper, PaoloAff8, Aff9
Barton, Kirston
Carswell, Shaun
Smith, MartinAff24, Aff25
Berardelli, AlfredoAff12, Aff13
Carroll, Renee
Gardner, Alison
Friend, Kathryn L.
Blatt, Ilan
Iacomino, Michele
Di Bonaventura, Carlo
Striano, Salvatore
Buratti, Julien
Keren, Boris
Nava, Caroline
Forlani, Sylvie
Rudolf, GabrielleAff31, Aff32, Aff33, Aff34, Aff35
Hirsch, Edouard
Leguern, EricAff29, Aff30
Labauge, Pierre
Balestrini, SimonaAff37, Aff38
Sander, Josemir W.Aff37, Aff38
Afawi, Zaid
Helbig, IngoAff39, Aff16
Ishiura, Hiroyuki
Tsuji, ShojiAff40, Aff41, Aff42
Sisodiya, Sanjay M.Aff37, Aff38
Casari, Giorgio
Sadleir, Lynette G.
van Coller, Riaan
Tijssen, Marina A. J.
Klein, Karl MartinAff47, Aff48, Aff49
van den Maagdenberg, Arn M. J. M.
Zara, Federico
Guerrini, Renzo
Berkovic, Samuel F.
Pippucci, Tommaso
Canafoglia, LauraAff10, Aff11
Bahlo, MelanieAff3, Aff4
Striano, PasqualeAff52, Aff53
Scheffer, Ingrid E.Aff5, Aff54
Brancati, FrancescoAff2, Aff55, Aff56
Depienne, ChristelAff6, Aff31, Aff35
Gecz, JozefAff1, Aff57
Pokaż więcej
Źródło :
Nature Communications. 10(1)
Czasopismo naukowe
Tytuł :
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Autorzy :
Salpietro, VincenzoAff1, Aff2, Aff3
Dixon, Christine L.
Guo, HuiAff5, Aff6
Bello, Oscar D.
Vandrovcova, Jana
Efthymiou, StephanieAff1, Aff4
Maroofian, Reza
Heimer, Gali
Burglen, Lydie
Valence, Stephanie
Torti, Erin
Hacke, Moritz
Rankin, Julia
Tariq, Huma
Colin, EstelleAff13, Aff14
Procaccio, VincentAff13, Aff14
Striano, PasqualeAff2, Aff3
Mankad, Kshitij
Lieb, Andreas
Chen, Sharon
Pisani, Laura
Bettencourt, Conceicao
Männikkö, Roope
Manole, Andreea
Brusco, Alfredo
Grosso, Enrico
Ferrero, Giovanni Battista
Armstrong-Moron, Judith
Gueden, Sophie
Bar-Yosef, Omer
Tzadok, Michal
Monaghan, Kristin G.
Santiago-Sim, Teresa
Person, Richard E.
Cho, Megan T.
Willaert, Rebecca
Yoo, Yongjin
Chae, Jong-Hee
Quan, Yingting
Wu, Huidan
Wang, TianyunAff5, Aff6
Bernier, Raphael A.
Xia, Kun
Blesson, Alyssa
Jain, Mahim
Motazacker, Mohammad M.
Jaeger, Bregje
Schneider, Amy L.
Boysen, Katja
Muir, Alison M.
Myers, Candace T.
Gavrilova, Ralitza H.
Gunderson, Lauren
Schultz-Rogers, Laura
Klee, Eric W.
Dyment, David
Osmond, MatthewAff32, Aff33, Aff34
Parellada, Mara
Llorente, Cloe
Gonzalez-Peñas, Javier
Carracedo, AngelAff38, Aff39
Van Haeringen, Arie
Ruivenkamp, Claudia
Nava, Caroline
Heron, Delphine
Nardello, Rosaria
Iacomino, Michele
Minetti, CarloAff2, Aff3
Skabar, Aldo
Fabretto, Antonella
SYNAPS Study Group
Raspall-Chaure, Miquel
Chez, Michael
Tsai, Anne
Fassi, Emily
Shinawi, Marwan
Constantino, John N.
De Zorzi, Rita
Fortuna, Sara
Kok, FernandoAff51, Aff52
Keren, Boris
Bonneau, DominiqueAff13, Aff14
Choi, Murim
Benzeev, Bruria
Zara, Federico
Mefford, Heather C.
Scheffer, Ingrid E.
Clayton-Smith, JillAff53, Aff54
Macaya, Alfons
Rothman, James E.Aff4, Aff55
Eichler, Evan E.Aff5, Aff56
Kullmann, Dimitri M.
Houlden, Henry
Pokaż więcej
Źródło :
Nature Communications. 10(1)
Czasopismo naukowe
Tytuł :
BRAT1 encephalopathy: a recessive cause of epilepsy of infancy with migrating focal seizures.
Autorzy :
Scheffer, Ingrid E
Boysen, Katja E
Schneider, Amy L
Myers, Candace T
Mehaffey, Michele G
Rochtus, Anne M
Yuen, Yuet‐Ping
Ronen, Gabriel M
Chak, Wai Km
Gill, Deepak
Poduri, Annapurna
Mefford, Heather C
Yuen, Yuet-Ping
Pokaż więcej
Temat :
SEIZURES (Medicine)
RECESSIVE genes
EPILEPSY
INFANTS
EARLY death
ETIOLOGY of diseases
BRAIN
BRAIN diseases
SEQUENCE analysis
NUCLEAR proteins
MAGNETIC resonance imaging
GENES
Źródło :
Developmental Medicine & Child Neurology; Sep2020, Vol. 62 Issue 9, p1096-1099, 4p
Czasopismo naukowe
Tytuł :
AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders
Autorzy :
Bello, Oscar D.
Efthymiou, Stephanie
Burglen, Lydie
Valence, Stephanie
Torti, Erin
Lieb, Andreas
Bettencourt, Conceicao
Männikkö, Roope
Brusco, Alfredo
Schneider, Amy L.
Muir, Alison M.
Schultz-Rogers, Laura
Fortuna, Sara
Choi, Murim
Eichler, Evan E.
Kullmann, Dimitri M.
Houlden, Henry
Salpietro, Vincenzo
Dixon, Christine L.
Guo, Hui
Vandrovcova, Jana
Maroofian, Reza
Heimer, Gali
Hacke, Moritz
Rankin, Julia
Tariq, Huma
Colin, Estelle
Procaccio, Vincent
Striano, Pasquale
Mankad, Kshitij
Chen, Sharon
Pisani, Laura
Manole, Andreea
Grosso, Enrico
Ferrero, Giovanni Battista
Armstrong-Moron, Judith
Gueden, Sophie
Bar-Yosef, Omer
Tzadok, Michal
Monaghan, Kristin G.
Santiago-Sim, Teresa
Person, Richard E.
Cho, Megan T.
Willaert, Rebecca
Yoo, Yongjin
Chae, Jong-Hee
Quan, Yingting
Wu, Huidan
Wang, Tianyun
Bernier, Raphael A.
Xia, Kun
Blesson, Alyssa
Jain, Mahim
Motazacker, Mohammad M.
Jaeger, Bregje
Boysen, Katja
Myers, Candace T.
Gavrilova, Ralitza H.
Gunderson, Lauren
Klee, Eric W.
Dyment, David
Osmond, Matthew
Parellada, Mara
Llorente, Cloe
Gonzalez-Peñas, Javier
Carracedo, Angel
Van Haeringen, Arie
Ruivenkamp, Claudia
Nava, Caroline
Heron, Delphine
Nardello, Rosaria
Iacomino, Michele
Minetti, Carlo
Skabar, Aldo
Fabretto, Antonella
Raspall-Chaure, Miquel
Chez, Michael
Tsai, Anne
Fassi, Emily
Shinawi, Marwan
Constantino, John N.
De Zorzi, Rita
Kok, Fernando
Keren, Boris
Bonneau, Dominique
Benzeev, Bruria
Zara, Federico
Mefford, Heather C.
Scheffer, Ingrid E.
Clayton-Smith, Jill
Macaya, Alfons
Rothman, James E.
Pokaż więcej
Temat :
AMPA
Synaptic development
Next-generation sequencing
Ion channels in the nervous system
AMPA receptor, GluA2, neurodevelopmental disorders, autism spectrum disorder, glutamatergic synaptic transmission, GRIA2
Neurodevelopmental disorders
Article
Źródło :
Nature Communications. 10

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