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1
The experience of the GENESS international consortium to accelerate discovery of new epilepsy genes
The experience of the GENESS international consortium to accelerate discovery of new epilepsy genes
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The experience of the GENESS international consortium to accelerate discovery of new epilepsy genes

Antonio Escueta Maria Alonso; Marco Medina; Reyna Duron; Julia Bailey; Iris Martinez-Juarez; Miyabi Tanaka; Donsheng Bai; Aurelio Jara-Prado; Adriana Ochoa; Jesus Machado-Salas; Thiery Grisar; Kazuhiro Yamakawa; Elza Targas Yacubian; Laura Maria de Figueiredo Ferreira Guilhoto; Jose Serratosa; Christopher Patterson; Joan Spellman; Jenny Wight; Yu-Chen Lin; Sumia Aftab; Annual Meeting (66. 2014 Philadelphia, USA)

Neurology New York v. 82, n. 10 suppl., res. P3.007, apr. 2014

New York 2014

Acesso online. A biblioteca também possui exemplares impressos.

2
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes
Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes
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Artigo 		Adicionar ao Meu Espaço

Molecular diagnosis of patients with epilepsy and developmental delay using a customized panel of epilepsy genes

Ortega-Moreno, Laura ; Giráldez, Beatriz G ; Soto-Insuga, Victor ; Losada-Del Pozo, Rebeca ; Rodrigo-Moreno, María ; Alarcón-Morcillo, Cristina ; Sánchez-Martín, Gema ; Díaz-Gómez, Esther ; Guerrero-López, Rosa ; Serratosa, José M Russo, Emilio

PloS one, 2017-11, Vol.12 (11), p.e0188978-e0188978 [Periódico revisado por pares]

United States: Public Library of Science

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3
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies
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De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, Silke ; Balling, Rudi ; Barisic, Nina ; Baulac, Stéphanie ; Caglayan, Hande ; De Jonghe, Peter ; Depienne, Christel ; Dimova, Petia ; Djémié, Tania ; Gormley, Padhraig ; Guerrini, Renzo ; Helbig, Ingo ; Hjalgrim, Helle ; Jähn, Johanna ; Klein, Karl Martin ; Koeleman, Bobby ; Komarek, Vladimir ; Krause, Roland ; Kuhlenbäumer, Gregor ; Lemke, Johannes R. ; Lerche, Holger ; Linnankivi, Tarja ; Marini, Carla ; May, Patrick ; Møller, Rikke S. ; Muhle, Hiltrud ; Palotie, Aarno ; Pendziwiat, Manuela ; Roelens, Filip ; Rosenow, Felix ; Selmer, Kaja ; Serratosa, Jose M. ; Sisodiya, Sanjay ; Stephani, Ulrich ; Sterbova, Katalin ; Striano, Pasquale ; Suls, Arvid ; Talvik, Tiina ; von Spiczak, Sarah ; Weckhuysen, Sarah ; Abou-Khalil, Bassel ; Alldredge, Brian K. ; Andermann, Eva ; Andermann, Frederick ; Amron, Dina ; Bautista, Jocelyn F. ; Berkovic, Samuel F. ; Bluvstein, Judith ; Boro, Alex ; Consalvo, Damian ; Crumrine, Patricia ; Devinsky, Orrin ; Dlugos, Dennis ; Epstein, Michael P. ; Fiol, Miguel ; French, Jacqueline ; Friedman, Daniel ; Geller, Eric B. ; Glauser, Tracy ; Glynn, Simon ; Haas, Kevin ; Haut, Sheryl R. ; Hayward, Jean ; Helmers, Sandra L. ; Joshi, Sucheta ; Kanner, Andres ; Knowlton, Robert C. ; Kossoff, Eric H. ; Kuperman, Rachel ; Kuzniecky, Ruben ; Lowenstein, Daniel H. ; Motika, Paul V. ; Novotny, Edward J. ; Ottman, Ruth ; Paolicchi, Juliann M. ; Parent, Jack ; Park, Kristen ; Scheffer, Ingrid E. ; Shellhaas, Renée A. ; Sherr, Elliott ; Singh, Rani ; Smith, Michael C. ; Sullivan, Joe ; Venkat, Anu ; Vining, Eileen P.G. ; Von Allmen, Gretchen K. ; Weisenberg, Judith L. ; Winawer, Melodie R. ; Cossette, Patrick ; Delanty, Norman ; Eichler, Evan E. ; Goldstein, David B. ; Han, Yujun ; Heinzen, Erin L. ; Marson, Anthony G. ; Nieh, Sahar Esmaeeli ; O’Brien, Terence J. ; Petrou, Stephen ; Petrovski, Slavé ; Ruzzo, Elizabeth K.

American journal of human genetics, 2014-10, Vol.95 (4), p.360-370 [Periódico revisado por pares]

United States: Elsevier Inc

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4
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes
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Artigo 		Adicionar ao Meu Espaço

Mutations in GRIN2A cause idiopathic focal epilepsy with rolandic spikes

Lemke, Johannes R ; Lal, Dennis ; Reinthaler, Eva M ; Steiner, Isabelle ; Nothnagel, Michael ; Alber, Michael ; Geider, Kirsten ; Laube, Bodo ; Schwake, Michael ; Finsterwalder, Katrin ; Franke, Andre ; Schilhabel, Markus ; Jähn, Johanna A ; Muhle, Hiltrud ; Boor, Rainer ; Van Paesschen, Wim ; Caraballo, Roberto ; Fejerman, Natalio ; Weckhuysen, Sarah ; De Jonghe, Peter ; Larsen, Jan ; Møller, Rikke S ; Hjalgrim, Helle ; Addis, Laura ; Tang, Shan ; Hughes, Elaine ; Pal, Deb K ; Veri, Kadi ; Vaher, Ulvi ; Talvik, Tiina ; Dimova, Petia ; Guerrero López, Rosa ; Serratosa, José M ; Linnankivi, Tarja ; Lehesjoki, Anna-Elina ; Ruf, Susanne ; Wolff, Markus ; Buerki, Sarah ; Wohlrab, Gabriele ; Kroell, Judith ; Datta, Alexandre N ; Fiedler, Barbara ; Kurlemann, Gerhard ; Kluger, Gerhard ; Hahn, Andreas ; Haberlandt, D Edda ; Kutzer, Christina ; Sperner, Jürgen ; Becker, Felicitas ; Weber, Yvonne G ; Feucht, Martha ; Steinböck, Hannelore ; Neophythou, Birgit ; Ronen, Gabriel M ; Gruber-Sedlmayr, Ursula ; Geldner, Julia ; Harvey, Robert J ; Hoffmann, Per ; Herms, Stefan ; Altmüller, Janine ; Toliat, Mohammad R ; Thiele, Holger ; Nürnberg, Peter ; Wilhelm, Christian ; Stephani, Ulrich ; Helbig, Ingo ; Lerche, Holger ; Zimprich, Fritz ; Neubauer, Bernd A ; Biskup, Saskia ; von Spiczak, Sarah

Nature genetics, 2013-09, Vol.45 (9), p.1067-1072 [Periódico revisado por pares]

United States: Nature Publishing Group

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5
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy
4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy
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4-Aminopyridine is a promising treatment option for patients with gain-of-function KCNA2 -encephalopathy

Hedrich, Ulrike B S ; Lauxmann, Stephan ; Wolff, Markus ; Synofzik, Matthis ; Bast, Thomas ; Binelli, Adrian ; Serratosa, José M ; Martínez-Ulloa, Pedro ; Allen, Nicholas M ; King, Mary D ; Gorman, Kathleen M ; Zeev, Bruria Ben ; Tzadok, Michal ; Wong-Kisiel, Lily ; Marjanovic, Dragan ; Rubboli, Guido ; Sisodiya, Sanjay M ; Lutz, Florian ; Ashraf, Harshad Pannikkaveettil ; Torge, Kirsten ; Yan, Pu ; Bosselmann, Christian ; Schwarz, Niklas ; Fudali, Monika ; Lerche, Holger

Science translational medicine, 2021-09, Vol.13 (609), p.eaaz4957-eaaz4957 [Periódico revisado por pares]

United States: The American Association for the Advancement of Science

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6
Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease
Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease
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Structural and Functional Brain Abnormalities in Mouse Models of Lafora Disease

Burgos, Daniel F ; Cussó, Lorena ; Sánchez-Elexpuru, Gentzane ; Calle, Daniel ; Perpinyà, Max Bautista ; Desco, Manuel ; Serratosa, José M ; Sánchez, Marina P

International journal of molecular sciences, 2020-10, Vol.21 (20), p.7771 [Periódico revisado por pares]

Switzerland: MDPI AG

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7
Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole
Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole
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Enhanced sensitivity of laforin- and malin-deficient mice to the convulsant agent pentylenetetrazole

García-Cabrero, Ana M ; Sánchez-Elexpuru, Gentzane ; Serratosa, José M ; Sánchez, Marina P

Frontiers in neuroscience, 2014-09, Vol.8, p.291 [Periódico revisado por pares]

Switzerland: Frontiers Research Foundation

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8
A PTG variant contributes to a milder phenotype in Lafora disease
A PTG variant contributes to a milder phenotype in Lafora disease
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A PTG variant contributes to a milder phenotype in Lafora disease

Guerrero, Rosa ; Vernia, Santiago ; Sanz, Raúl ; Abreu-Rodríguez, Irene ; Almaraz, Carmen ; García-Hoyos, María ; Michelucci, Roberto ; Tassinari, Carlo Alberto ; Riguzzi, Patrizia ; Nobile, Carlo ; Sanz, Pascual ; Serratosa, José M ; Gómez-Garre, Pilar Palau, Francesc

PloS one, 2011-06, Vol.6 (6), p.e21294 [Periódico revisado por pares]

United States: Public Library of Science

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9
An empirical pipeline for personalized diagnosis of Lafora disease mutations
An empirical pipeline for personalized diagnosis of Lafora disease mutations
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An empirical pipeline for personalized diagnosis of Lafora disease mutations

Brewer, M. Kathryn ; Machio-Castello, Maria ; Viana, Rosa ; Wayne, Jeremiah L. ; Kuchtová, Andrea ; Simmons, Zoe R. ; Sternbach, Sarah ; Li, Sheng ; García-Gimeno, Maria Adelaida ; Serratosa, Jose M. ; Sanz, Pascual ; Vander Kooi, Craig W. ; Gentry, Matthew S.

iScience, 2021-11, Vol.24 (11), p.103276-103276, Article 103276 [Periódico revisado por pares]

United States: Elsevier Inc

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10
Lafora disease offers a unique window into neuronal glycogen metabolism
Lafora disease offers a unique window into neuronal glycogen metabolism
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Lafora disease offers a unique window into neuronal glycogen metabolism

Gentry, Matthew S. ; Guinovart, Joan J. ; Minassian, Berge A. ; Roach, Peter J. ; Serratosa, Jose M.

The Journal of biological chemistry, 2018-05, Vol.293 (19), p.7117-7125 [Periódico revisado por pares]

United States: Elsevier Inc

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Deste Autor:

  1. Duron, R
  2. Lin, Y
  3. Machado-Salas, J
  4. Yacubian, E
  5. Annual Meeting

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Neurosciences & Neurology
  5. Clinical Neurology

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