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S

Samuel Ignacio Pascual Pascual

Universidad Autonoma de Madrid
H指数:36
被引数:4,796

个人简介

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教育背景

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工作经历

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荣誉奖项

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Efficacy and tolerability of a low-glycemic-index ketogenic diet in Angelman syndrome: findings from the DIANE study

安格曼综合征患者中低血糖指数生酮饮食的疗效和耐受性：DIANE研究的发现

Orphanet Journal of Rare Diseases
IF3.5
2026-04-040
OAAI
Gema Iglesias Escalera; Rosario Cazorla Calleja; María Lorenzo Ruiz; Julián Lara Herguedas; Carolina Gutiérrez Junquera; María Luz Cilleruelo Pascual; Antonio F. Caballero-Bermejo; Enriqueta Roman-Riechmann; Samuel Ignacio Pascual Pascual; Belén Ruiz-Antorán
Clinical practice guidelines for the diagnosis and management of Charcot-Marie-Tooth disease in Spain

西班牙关于Charcot-Marie-Tooth疾病诊断与管理的临床实践指南

NEUROLOGIA
IF3.1
2025-04-010
PRE
Mascaro, R. Sivera; Sobrino, T. Garcia; Hernandez, A. Horga; Negro, A. L. Pelayo; Jimenez, A. Alonso; Pose, A. Antelo; Gallego, M. D. Calabria; Casasnovas, C.; Fernandez, C. A. Cemillan; Perez, J. Esteban; Cortes, M. Fenollar; Carrera, M. Frasquet; Petit, M. P. Gallano; Munoz, A. Gimenez; Gutierrez, G. Gutierrez; Martinez, A. Gutierrez; Morales, R. Juntas; Ciano-Petersen, N. L.; Ulloa, P. L. Martinez; Hengstl, S. Mederer; Sancho, E. Millet; Barrero, F. J. Navacerrada; Faubel, F. E. Navarrete; Fernandez, J. Pardo; Pascual, S. I. Pascual; Lucas, J. Perez; Minguez, J. Pino; Perez, M. Rabasa; Gonzalez, M. Sanchez; Sotoca, J.; Santiago, B. Rodriguez; Garcia, R. Rojas; Turon-Sans, J.; Carsiy, V. Vicent; Mantecona, T. Sevilla
Expanding the phenotypic spectrum of TRAPPC11-related muscular dystrophy: 25 Roma individuals carrying a founder variant
JOURNAL OF MEDICAL GENETICS
IF3.7
2023-05-169
OAAI
Justel, Maria; Jou, Cristina; Sariego-Jamardo, Andrea; Alexandra Julia-Palacios, Natalia; Ortez, Carlos; Luisa Poch, Maria; Hedrera-Fernandez, Antonio; Gomez-Martin, Hilario; Codina, Anna; Dominguez-Carral, Jana; Muxart, Jordi; Hernandez-Lain, Aurelio; Vila-Bedmar, Sara; Zulaica, Miren; Cancho-Candela, Ramon; del Carmen Castro, Margarita; de la Osa-langreo, Alberto; Pena-Valenceja, Alfonso; Marcos-Vadillo, Elena; Prieto-Matos, Pablo; Ignacio Pascual-Pascual, Samuel; Lopez de Munain, Adolfo; Camacho, Ana; Estevez-Arias, Berta; Musokhranova, Uliana; Olivella, Mireia; Oyarzabal, Alfonso; Jimenez-Mallebrera, Cecilia; Dominguez-Gonzalez, Cristina; Nascimento, Andres; Garcia-Cazorla, Angels; Natera-de Benito, Daniel
Cation leak through the ATP1A3 pump causes spasticity and intellectual disability
BRAIN
IF11.7
2023-04-125
OA
Calame, Daniel G.; Vadillo, Cristina Moreno; Berger, Seth; Lotze, Timothy; Shinawi, Marwan; Poupak, Javaher; Heller, Corina; Cohen, Julie; Person, Richard; Telegrafi, Aida; Phitsanuwong, Chalongchai; Fiala, Kaylene; Thiffault, Isabelle; Del Viso, Florencia; Zhou, Dihong; Fleming, Emily A.; Pastinen, Tomi; Fatemi, Ali; Thomas, Sruthi; Pascual, Samuel, I; Torres, Rosa J.; Prior, Carmen; Gomez-Gonzalez, Clara; Biskup, Saskia; Lupski, James R.; Maric, Dragan; Holmgren, Miguel; Regier, Debra; Yano, Sho T.
DEVOTE Study Exploring Higher Dose of Nusinersen in Spinal Muscular Atrophy: Study Design and Part A Results

致力于探索高剂量Nusinersen治疗脊髓性肌萎缩症的研究: 研究设计和A部分结果

JOURNAL OF NEUROMUSCULAR DISEASES
IF3.4
2023-01-017
PRE
Finkel, Richard S.; Day, John W.; Pascual Pascual, Samuel Ignacio; Ryan, Monique M.; Mercuri, Eugenio; De Vivo, Darryl C.; Montes, Jacqueline; Gurgel-Giannetti, Juliana; Monine, Michael; Gambino, Giulia; Makepeace, Corinne; Foster, Richard; Berger, Zdenek
Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain
SCIENTIFIC REPORTS
IF3.9
2017-07-2723
OAAI
Sivera, Rafael; Frasquet, Marina; Lupo, Vincenzo; Garcia-Sobrino, Tania; Blanco-Arias, Patricia; Pardo, Julio; Fernandez-Torron, Roberto; Lopez de Munain, Adolfo; Marquez-Infante, Celedonio; Villarreal, Liliana; Carbonell, Pilar; Rojas-Garcia, Ricard; Segovia, Sonia; Illa, Isabel; Lia Frongia, Anna; Nascimento, Andres; Ortez, Carlos; del Mar Garcia-Romero, Maria; Ignacio Pascual, Samuel; Lara Pelayo-Negro, Ana; Berciano, Jose; Guerrero, Antonio; Casasnovas, Carlos; Camacho, Ana; Esteban, Jesus; Jose Chumillas, Maria; Barreiro, Marisa; Diaz, Carmen; Palau, Francesc; Jesus Vilchez, Juan; Espinos, Carmen; Sevilla, Teresa

研究方向

暂未获取到该数据
T
Teresa Sevilla
H 指数:37论文数:162被引数:4,040
C
Carmen Espinós
H 指数:32论文数:142被引数:3,199
V
Vincenzo Lupo
H 指数:22论文数:53被引数:1,107
R
Rafael Sivera
H 指数:16论文数:52被引数:1,085
M
Mar García-Romero
H 指数:6论文数:16被引数:200
C
C. Ortez
H 指数:28论文数:206被引数:3,061
C
Carlos Casasnovas
H 指数:31论文数:102被引数:8,003
P
Paula Sancho
H 指数:9论文数:12被引数:381
E
Eugenio Mercuri
H 指数:108论文数:1,133被引数:4.7万
D
Darryl C. De Vivo
H 指数:86论文数:609被引数:2.9万