Results
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Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10. [electronic resource] by
- Matsuura, Tohru
- Fang, Ping
- Lin, Xi
- Khajavi, Mehrdad
- Tsuji, Kuniko
- Rasmussen, Astrid
- Grewal, Raji P
- Achari, Madhureeta
- Alonso, Maria E
- Pulst, Stefan M
- Zoghbi, Huda Y
- Nelson, David L
- Roa, Benjamin B
- Ashizawa, Tetsuo
Producer: 20040706
In:
American journal of human genetics vol. 74
Availability: No items available.
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5.
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Juvenile myoclonic epilepsy: linkage to chromosome 6p12 in Mexico families. [electronic resource] by
- Bai, Dongsheng
- Alonso, Maria E
- Medina, Marco T
- Bailey, Julia N
- Morita, Ryoji
- Cordova, Sergio
- Rasmussen, Astrid
- Ramos-Peek, Jaime
- Ochoa, Adriana
- Jara, Aurelio
- Donnadieu, Francisco R
- Cadena, Gilbert
- Yamakawa, Kazuhiro
- Delgado-Escueta, Antonio V
Producer: 20030501
In:
American journal of medical genetics vol. 113
Availability: No items available.
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Mutational analysis of CACNA1G in idiopathic generalized epilepsy. Mutation in brief #962. Online. [electronic resource] by
- Singh, Baljinder
- Monteil, Arnaud
- Bidaud, Isabelle
- Sugimoto, Yoshihisa
- Suzuki, Toshimitsu
- Hamano, Shin-ichiro
- Oguni, Hirokazu
- Osawa, Makiko
- Alonso, Maria E
- Delgado-Escueta, Antonio V
- Inoue, Yushi
- Yasui-Furukori, Norio
- Kaneko, Sunao
- Lory, Philippe
- Yamakawa, Kazuhiro
Producer: 20070621
In:
Human mutation vol. 28
Availability: No items available.
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7.
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Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype. [electronic resource] by
- Ganesh, Subramaniam
- Delgado-Escueta, Antonio V
- Suzuki, Toshimitsu
- Francheschetti, Silvana
- Riggio, Concetta
- Avanzini, Giuiliano
- Rabinowicz, Adrian
- Bohlega, Saeed
- Bailey, Julia
- Alonso, Maria E
- Rasmussen, Astrid
- Thomson, Alfredo E
- Ochoa, Adriana
- Prado, Aurelio J
- Medina, Marco T
- Yamakawa, Kazuhiro
Producer: 20021010
In:
Human molecular genetics vol. 11
Availability: No items available.
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Role of B-1 cells in the immune response against an antigen encapsulated into phosphatidylcholine-containing liposomes. [electronic resource] by
- Cruz-Leal, Yoelys
- Machado, Yoan
- López-Requena, Alejandro
- Canet, Liem
- Laborde, Rady
- Álvares, Anuska Marcelino
- Lucatelli Laurindo, María F
- Santo Tomas, Julio F
- Alonso, María E
- Alvarez, Carlos
- Mortara, Renato A
- Popi, Ana F
- Mariano, Mario
- Pérez, Rolando
- Lanio, María E
Producer: 20150330
In:
International immunology vol. 26
Availability: No items available.
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9.
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Identification and mutational analysis of candidate genes for juvenile myoclonic epilepsy on 6p11-p12: LRRC1, GCLC, KIAA0057 and CLIC5. [electronic resource] by
- Suzuki, Toshimitsu
- Morita, Ryoji
- Sugimoto, Yoshihisa
- Sugawara, Takashi
- Bai, Dong-Sheng
- Alonso, Maria E
- Medina, Marco T
- Bailey, Julia N
- Rasmussen, Astrid
- Ramos-Peek, Jaime
- Cordova, Sergio
- Rubio-Donnadieu, Francisco
- Ochoa, Adriana
- Jara-Prado, Aurelio
- Inazawa, Johji
- Delgado-Escueta, Antonio V
- Yamakawa, Kazuhiro
Producer: 20021115
In:
Epilepsy research vol. 50
Availability: No items available.
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10.
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Mutation analyses of genes on 6p12-p11 in patients with juvenile myoclonic epilepsy. [electronic resource] by
- Suzuki, Toshimitsu
- Delgado-Escueta, Antonio V
- Alonso, Maria E
- Morita, Ryoji
- Okamura, Nami
- Sugimoto, Yoshihisa
- Bai, Dongsheng
- Medina, Marco T
- Bailey, Julia N
- Rasmussen, Astrid
- Ramos-Peek, Jaime
- Cordova, Sergio
- Rubio-Donnadieu, Francisco
- Ochoa, Adriana
- Jara-Prado, Aurelio
- Inazawa, Johji
- Yamakawa, Kazuhiro
Producer: 20061024
In:
Neuroscience letters vol. 405
Availability: No items available.
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11.
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DNA variants in coding region of EFHC1: SNPs do not associate with juvenile myoclonic epilepsy. [electronic resource] by
- Bai, Dongsheng
- Bailey, Julia N
- Durón, Reyna M
- Alonso, María E
- Medina, Marco T
- Martínez-Juárez, Iris E
- Suzuki, Toshimitsu
- Machado-Salas, Jesús
- Ramos-Ramírez, Ricardo
- Tanaka, Miyabi
- Ortega, Ramón H Castro
- López-Ruiz, Minerva
- Rasmussen, Astrid
- Ochoa, Adriana
- Jara-Prado, Aurelio
- Yamakawa, Kazuhiro
- Delgado-Escueta, Antonio V
Producer: 20090622
In:
Epilepsia vol. 50
Availability: No items available.
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12.
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Novel Adjuvant Based on the Pore-Forming Protein Sticholysin II Encapsulated into Liposomes Effectively Enhances the Antigen-Specific CTL-Mediated Immune Response. [electronic resource] by
- Laborde, Rady J
- Sanchez-Ferras, Oraly
- Luzardo, María C
- Cruz-Leal, Yoelys
- Fernández, Audry
- Mesa, Circe
- Oliver, Liliana
- Canet, Liem
- Abreu-Butin, Liane
- Nogueira, Catarina V
- Tejuca, Mayra
- Pazos, Fabiola
- Álvarez, Carlos
- Alonso, María E
- Longo-Maugéri, Ieda M
- Starnbach, Michael N
- Higgins, Darren E
- Fernández, Luis E
- Lanio, María E
Producer: 20170815
In:
Journal of immunology (Baltimore, Md. : 1950) vol. 198
Availability: No items available.
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13.
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EFHC1 variants in juvenile myoclonic epilepsy: reanalysis according to NHGRI and ACMG guidelines for assigning disease causality. [electronic resource] by
- 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
Producer: 20171211
In:
Genetics in medicine : official journal of the American College of Medical Genetics vol. 19
Availability: No items available.
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14.
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Mutations in EFHC1 cause juvenile myoclonic epilepsy. [electronic resource] by
- Suzuki, Toshimitsu
- Delgado-Escueta, Antonio V
- Aguan, Kripamoy
- Alonso, Maria E
- Shi, Jun
- Hara, Yuji
- Nishida, Motohiro
- Numata, Tomohiro
- Medina, Marco T
- Takeuchi, Tamaki
- Morita, Ryoji
- Bai, Dongsheng
- Ganesh, Subramaniam
- Sugimoto, Yoshihisa
- Inazawa, Johji
- Bailey, Julia N
- Ochoa, Adriana
- Jara-Prado, Aurelio
- Rasmussen, Astrid
- Ramos-Peek, Jaime
- Cordova, Sergio
- Rubio-Donnadieu, Francisco
- Inoue, Yushi
- Osawa, Makiko
- Kaneko, Sunao
- Oguni, Hirokazu
- Mori, Yasuo
- Yamakawa, Kazuhiro
Producer: 20040913
In:
Nature genetics vol. 36
Availability: No items available.
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15.
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Childhood absence epilepsy evolving to juvenile myoclonic epilepsy: electroclinical and genetic features. [electronic resource] by
- Medina, Marco T
- Durón, Reyna M
- Alonso, María E
- Dravet, Charlotte
- León, Lourdes
- López-Ruiz, Minerva
- Ramos-Ramírez, Ricardo
- Castroviejo, Ignacio Pascual
- Weissbecker, Karen
- Westling, B
- Perez-Gosiengfiao, Katerina Tanya
- Khan, Sonia
- Pineda, Gregorio
- Morita, Ryoji
- Rasmussen, Astrid
- Peek, Jaime Ramos
- Cordova, Sergio
- Martínez-Juárez, Iris E
- Rubio-Donnadieu, Francisco
- Ochoa-Morales, Adriana
- Jara-Prado, Aurelio
- Bailey, Julia N
- Tanaka, Miyabi
- Bai, Dongheng
- Machado-Salas, Jesús
- Delgado-Escueta, Antonio V
Producer: 20041227
In:
Advances in neurology vol. 95
Availability: No items available.
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16.
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Variant Intestinal-Cell Kinase in Juvenile Myoclonic Epilepsy. [electronic resource] by
- 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
Producer: 20180323
In:
The New England journal of medicine vol. 378
Availability: No items available.
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17.
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Flash survey on severe acute respiratory syndrome coronavirus-2 infections in paediatric patients on anticancer treatment. [electronic resource] by
- Hrusak, Ondrej
- Kalina, Tomas
- Wolf, Joshua
- Balduzzi, Adriana
- Provenzi, Massimo
- Rizzari, Carmelo
- Rives, Susana
- Del Pozo Carlavilla, María
- Alonso, Maria E V
- Domínguez-Pinilla, Nerea
- Bourquin, Jean-Pierre
- Schmiegelow, Kjeld
- Attarbaschi, Andishe
- Grillner, Pernilla
- Mellgren, Karin
- van der Werff Ten Bosch, Jutte
- Pieters, Rob
- Brozou, Triantafyllia
- Borkhardt, Arndt
- Escherich, Gabriele
- Lauten, Melchior
- Stanulla, Martin
- Smith, Owen
- Yeoh, Allen E J
- Elitzur, Sarah
- Vora, Ajay
- Li, Chi-Kong
- Ariffin, Hany
- Kolenova, Alexandra
- Dallapozza, Luciano
- Farah, Roula
- Lazic, Jelena
- Manabe, Atsushi
- Styczynski, Jan
- Kovacs, Gabor
- Ottoffy, Gabor
- Felice, Maria S
- Buldini, Barbara
- Conter, Valentino
- Stary, Jan
- Schrappe, Martin
Producer: 20200529
In:
European journal of cancer (Oxford, England : 1990) vol. 132
Availability: No items available.
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