BetterScholar BetterScholar
11
Role
Title
Level Year L/R
🐜 Genetic linkage evidence for a familial Alzheimer's disease locus on chromosome 14.
13 auth. G. Schellenberg, T. Bird, E. Wijsman, H. Orr, L. Anderson, E. Nemens, J. White, Lori L.C. Bonnycastle, J. Weber, M. Alonso, ... H. Potter, L. Heston, G. Martin
9 1992
9
🐜
🐜 Mutations in EFHC1 cause juvenile myoclonic epilepsy
28 auth. Toshimitsu Suzuki, A. Delgado-Escueta, K. Aguan, M. Alonso, Jun Shi, Y. Hara, M. Nishida, T. Numata, M. T. Medina, T. Takeuchi, R. Morita, D. Bai, S. Ganesh, Y. Sugimoto, J. Inazawa, ... J. Bailey, A. Ochoa, A. Jara-Prado, A. Rasmussen, J. Ramos-Peek, S. Cordova, F. Rubio-Donnadieu, Y. Inoue, M. Ōsawa, S. Kaneko, H. Oguni, Y. Mori, K. Yamakawa
8 2004
8
🐜
🐜 Flash survey on severe acute respiratory syndrome coronavirus-2 infections in paediatric patients on anticancer treatment
41 auth. O. Hrušák, T. Kalina, J. Wolf, A. Balduzzi, M. Provenzi, C. Rizzari, S. Rives, M. del Pozo Carlavilla, M. Alonso, N. Domínguez-Pinilla, J. Bourquin, K. Schmiegelow, A. Attarbaschi, P. Grillner, K. Mellgren, ... J. van der Werff Ten Bosch, R. Pieters, T. Brozou, A. Borkhardt, G. Escherich, M. Lauten, M. Stanulla, O. Smith, A. Yeoh, S. Elitzur, A. Vora, Chi-kong Li, H. Ariffin, A. Kolenová, Luciano Dallapozza, R. Farah, J. Lazic, A. Manabe, J. Styczyński, G. Kovács, G. Ottóffy, M. Felice, B. Buldini, V. Conter, J. Starý, M. Schrappe
7 2020
7
🐜
🐜 Hyperglycosylation and reduced GABA currents of mutated GABRB3 polypeptide in remitting childhood absence epilepsy.
18 auth. Miyabi Tanaka, R. Olsen, M. T. Medina, E. Schwartz, M. Alonso, R. Durón, Ramon Castro-Ortega, I. Martínez-Juárez, I. Pascual‐Castroviejo, J. Machado-Salas, ... René Silva, J. Bailey, D. Bai, A. Ochoa, A. Jara-Prado, G. Pineda, R. Macdonald, A. Delgado-Escueta
7 2008
7
🐜
🐜 Juvenile myoclonic epilepsy subsyndromes: family studies and long-term follow-up.
15 auth. I. Martínez-Juárez, M. Alonso, M. T. Medina, R. Durón, J. Bailey, Minerva López-Ruiz, Ricardo Ramos-Ramírez, Lourdes León, G. Pineda, I. Castroviejo, ... René Silva, L. Mija, K. Perez-Gosiengfiao, J. Machado-Salas, A. Delgado-Escueta
7 2006
7
🐜
🐜 Juvenile myoclonic epilepsy locus in chromosome 6p21.2-p11: linkage to convulsions and electroencephalography trait.
10 auth. A. Liu, A. Delgado-Escueta, J. Serratosa, M. Alonso, M. T. Medina, M. Gee, ... S. Cordova, H. Z. Zhao, J. Spellman, J. R. Peek
6 1995
6
🐜
🐜 Genotype-phenotype correlations for EPM2A mutations in Lafora's progressive myoclonus epilepsy: exon 1 mutations associate with an early-onset cognitive deficit subphenotype.
16 auth. S. Ganesh, A. Delgado-Escueta, Toshimitsu Suzuki, S. Francheschetti, C. Riggio, G. Avanzini, Adrian Rabinowicz, S. Bohlega, J. Bailey, M. Alonso, ... A. Rasmussen, Alfredo E Thomson, A. Ochoa, A. J. Prado, M. T. Medina, K. Yamakawa
6 2002
6
🐜
🐜 Somatic and germline instability of the ATTCT repeat in spinocerebellar ataxia type 10.
14 auth. T. Matsuura, P. Fang, Xi Lin, M. Khajavi, Kuniko Tsuji, A. Rasmussen, R. Grewal, Madhureeta Achari, M. Alonso, S. Pulst, ... H. Zoghbi, D. Nelson, B. Roa, T. Ashizawa
6 2004
6
🐜
🐜 Novel mutations in Myoclonin1/EFHC1 in sporadic and familial juvenile myoclonic epilepsy
25 auth. M. T. Medina, T. Suzuki, M. Alonso, R. Durón, I. Martínez-Juárez, J. Bailey, D. Bai, Y. Inoue, I. Yoshimura, S. Kaneko, M. C. Montoya, A. Ochoa, A. J. Prado, M. Tanaka, J. Machado-Salas, ... S. Fujimoto, M. Ito, S. Hamano, K. Sugita, Y. Ueda, M. Osawa, H. Oguni, F. Rubio-Donnadieu, K. Yamakawa, A. Delgado-Escueta
6 2008
6
🐜
🐢 Normal prism adaptation but reduced after‐effect in basal ganglia disorders using a throwing task
9 auth. J. Fernández-Ruíz, R. Díaz, C. Hall-Haro, P. Vergara, J. Mischner, L. Nuñez, ... R. Drucker-Colín, A. Ochoa, M. Alonso
6 2003
6
🐢
🐜 Juvenile myoclonic epilepsy in chromosome 6p12-p11: locus heterogeneity and recombinations.
14 auth. A. Liu, A. Delgado-Escueta, M. Gee, J. Serratosa, Q. W. Zhang, M. Alonso, M. T. Medina, S. Cordova, H. Z. Zhao, J. Spellman, ... F. Donnadieu, J. R. Peek, L. Treiman, R. Sparkes
5 1996
5
🐜