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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
Material Type:
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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
EFHC1 variants in juvenile myoclonic epilepsy reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
EFHC1 variants in juvenile myoclonic epilepsy reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
Material Type:
Artigo 		Adicionar ao Meu Espaço

EFHC1 variants in juvenile myoclonic epilepsy reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

Julia N Bailey Christopher Patterson; Laurence de Nijs; Reyna M Durón; Viet-Huong Nguyen; Miyabi Tanaka; Marco T Medina; Aurelio Jara-Prado; Iris E Martínez-Juárez; Adriana Ochoa; Yolli Molina; Toshimitsu Suzuki; María E Alonso; Jenny E Wight; Yu-Chen Lin; Laura Maria de Figueiredo Ferreira Guilhoto; Elza Marcia Targas Yacubian; Jesús Machado-Salas; Andrea Daga; Kazuhiro Yamakawa; Thierry M Grisar; Bernard Lakaye; Antonio V Delgado-Escueta

Genetics in Medicine Baltimore v. 19, n. 2, p. 144-156, feb. 2017

Baltimore 2017

Localização: HU - Hospital Universitário    (Separatas 2017 )(Acessar)

3
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy
Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy
Material Type:
Artigo 		Adicionar ao Meu Espaço

Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy

Bailey, Julia N ; de Nijs, Laurence ; Bai, Dongsheng ; Suzuki, Toshimitsu ; Miyamoto, Hiroyuki ; Tanaka, Miyabi ; Patterson, Christopher ; Lin, Yu-Chen ; Medina, Marco T ; Alonso, María E ; Serratosa, José M ; Durón, Reyna M ; Nguyen, Viet H ; Wight, Jenny E ; Martínez-Juárez, Iris E ; Ochoa, Adriana ; Jara-Prado, Aurelio ; Guilhoto, Laura ; Molina, Yolly ; Yacubian, Elsa M ; López-Ruiz, Minerva ; Inoue, Yushi ; Kaneko, Sunao ; Hirose, Shinichi ; Osawa, Makiko ; Oguni, Hirokazu ; Fujimoto, Shinji ; Grisar, Thierry M ; Stern, John M ; Yamakawa, Kazuhiro ; Lakaye, Bernard ; Delgado-Escueta, Antonio V

The New England journal of medicine, 2018-03, Vol.378 (11), p.1018-1028 [Periódico revisado por pares]

United States: Massachusetts Medical Society

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4
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality
Material Type:
Artigo 		Adicionar ao Meu Espaço

EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality

Bailey, Julia N. ; Patterson, Christopher ; de Nijs, Laurence ; Durón, Reyna M. ; Nguyen, Viet-Huong ; Tanaka, Miyabi ; Medina, Marco T. ; Jara-Prado, Aurelio ; Martínez-Juárez, Iris E. ; Ochoa, Adriana ; Molina, Yolli ; Suzuki, Toshimitsu ; Alonso, María E. ; Wight, Jenny E. ; Lin, Yu-Chen ; Guilhoto, Laura ; Targas Yacubian, Elza Marcia ; Machado-Salas, Jesús ; Daga, Andrea ; Yamakawa, Kazuhiro ; Grisar, Thierry M. ; Lakaye, Bernard ; Delgado-Escueta, Antonio V.

Genetics in medicine, 2017-02, Vol.19 (2), p.144-156 [Periódico revisado por pares]

United States: Elsevier Inc

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5
Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5–6.0 Hz polyspike waves
Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5–6.0 Hz polyspike waves
Material Type:
Artigo 		Adicionar ao Meu Espaço

Chromosome loci vary by juvenile myoclonic epilepsy subsyndromes: linkage and haplotype analysis applied to epilepsy and EEG 3.5–6.0 Hz polyspike waves

Wight, Jenny E. ; Nguyen, Viet‐Huong ; Medina, Marco T. ; Patterson, Christopher ; Durón, Reyna M. ; Molina, Yolly ; Lin, Yu‐Chen ; Martínez‐Juárez, Iris E. ; Ochoa, Adriana ; Jara‐Prado, Aurelio ; Tanaka, Miyabi ; Bai, Dongsheng ; Aftab, Sumaya ; Bailey, Julia N. ; Delgado‐Escueta, Antonio V.

Molecular genetics & genomic medicine, 2016-03, Vol.4 (2), p.197-210 [Periódico revisado por pares]

United States: John Wiley & Sons, Inc

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6
Absence Seizures in Juvenile Myoclonic Epilepsy: Whole Exome Sequencing Results and Subsyndromes (P2.008)
Absence Seizures in Juvenile Myoclonic Epilepsy: Whole Exome Sequencing Results and Subsyndromes (P2.008)
Material Type:
Artigo 		Adicionar ao Meu Espaço

Absence Seizures in Juvenile Myoclonic Epilepsy: Whole Exome Sequencing Results and Subsyndromes (P2.008)

Duron, Reyna ; Medina, Marco ; Martínez-Juarez, Iris ; Jara-Prado, Aurelio ; Ochoa, Adriana ; Lopez-Ruiz, Minerva ; Molina, Yolli ; Guilhoto, Laura ; Yacubian, Elsa ; Wight, Jenny ; Nguyen, Viet-Huong ; Lin, Yu-Chen ; Bai, Dongsheng ; Tanaka, Miyabi ; Patterson, Christopher ; Alonso, Maria ; Bailey, Julia ; Delgado-Escueta, Antonio

Neurology, 2016-04, Vol.86 (16_supplement) [Periódico revisado por pares]

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7
The Experience Of The GENESS International Consortium To Accelerate Discovery Of New Epilepsy Genes (P3.007)
The Experience Of The GENESS International Consortium To Accelerate Discovery Of New Epilepsy Genes (P3.007)
Material Type:
Artigo 		Adicionar ao Meu Espaço

The Experience Of The GENESS International Consortium To Accelerate Discovery Of New Epilepsy Genes (P3.007)

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

Neurology, 2014-04, Vol.82 (10_supplement) [Periódico revisado por pares]

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8
Diabetes promotes an inflammatory macrophage phenotype and atherosclerosis through acyl-CoA synthetase 1
Diabetes promotes an inflammatory macrophage phenotype and atherosclerosis through acyl-CoA synthetase 1
Material Type:
Artigo 		Adicionar ao Meu Espaço

Diabetes promotes an inflammatory macrophage phenotype and atherosclerosis through acyl-CoA synthetase 1

Kanter, Jenny E ; Kramer, Farah ; Barnhart, Shelley ; Averill, Michelle M ; Vivekanandan-Giri, Anuradha ; Vickery, Thad ; Li, Lei O ; Becker, Lev ; Yuan, Wei ; Chait, Alan ; Braun, Kathleen R ; Potter-Perigo, Susan ; Sanda, Srinath ; Wight, Thomas N ; Pennathur, Subramaniam ; Serhan, Charles N ; Heinecke, Jay W ; Coleman, Rosalind A ; Bornfeldt, Karin E

Proceedings of the National Academy of Sciences - PNAS, 2012-03, Vol.109 (12), p.E715-E724 [Periódico revisado por pares]

United States: National Academy of Sciences

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9
1771-P: Hypothalamic Perineuronal Net Assembly Is Required for Sustained Diabetes Remission Induced by FGF1
1771-P: Hypothalamic Perineuronal Net Assembly Is Required for Sustained Diabetes Remission Induced by FGF1
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Artigo 		Adicionar ao Meu Espaço

1771-P: Hypothalamic Perineuronal Net Assembly Is Required for Sustained Diabetes Remission Induced by FGF1

ALONGE, KIMBERLY M. ; MIRZADEH, ZAMAN ; SCARLETT, JARRAD ; LOGSDON, ARIC ; BROWN, JENNY M. ; CABRALES, ELAINE ; CHAN, CHRISTINA K. ; KAIYALA, KARL ; BENTSEN, MARIE A. ; BANKS, WILLIAM A. ; GUTTMAN, MIKLOS ; WIGHT, THOMAS N. ; MORTON, GREGORY J. ; SCHWARTZ, MICHAEL W.

Diabetes (New York, N.Y.), 2020-06, Vol.69 (Supplement_1) [Periódico revisado por pares]

New York: American Diabetes Association

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10
Hypothalamic perineuronal net assembly is required for sustained diabetes remission induced by fibroblast growth factor 1 in rats
Hypothalamic perineuronal net assembly is required for sustained diabetes remission induced by fibroblast growth factor 1 in rats
Material Type:
Artigo 		Adicionar ao Meu Espaço

Hypothalamic perineuronal net assembly is required for sustained diabetes remission induced by fibroblast growth factor 1 in rats

Alonge, Kimberly M ; Mirzadeh, Zaman ; Scarlett, Jarrad M ; Logsdon, Aric F ; Brown, Jenny M ; Cabrales, Elaine ; Chan, Christina K ; Kaiyala, Karl J ; Bentsen, Marie A ; Banks, William A ; Guttman, Miklos ; Wight, Thomas N ; Morton, Gregory J ; Schwartz, Michael W

Nature metabolism, 2020-10, Vol.2 (10), p.1025-1033 [Periódico revisado por pares]

Germany

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Deste Autor:

  1. Lin, Y
  2. Machado-Salas, J
  3. Wight, J
  4. Yacubian, E
  5. Yamakawa, K

Neste Assunto:

  1. Science & Technology
  2. Life Sciences & Biomedicine
  3. Humans
  4. Animals
  5. Female

  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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