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C

Carmen Espinós

instituto de salud carlos iii
H指数:32
被引数:3,195

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Alternative splicing expands the clinical spectrum of NDUFS6-related mitochondrial disorders
GENETICS IN MEDICINE
IF6.2
2024-06-010
OAAI
Armirola-Ricaurte, Camila; Zonnekein, Noortje; Koutsis, Georgios; Amor-Barris, Silvia; Pelayo-Negro, Ana Lara; Atkinson, Derek; Efthymiou, Stephanie; Turchetti, Valentina; Dinopoulos, Argyris; Garcia, Antonio; Karakaya, Mert; Moris, German; Polat, Ayse Ipek; Yis, Uluc; Espinos, Carmen; Van de Vondel, Liedewei; De Vriendt, Els; Karadima, Georgia; Wirth, Brunhilde; Hanna, Michael; Houlden, Henry; Berciano, Jose; Jordanova, Albena
Expanding the Clinical Spectrum of DRP2-Associated Charcot-Marie-Tooth Disease

扩大DRP2-Associated charcot-marie-tooth病的临床范围

NEUROLOGY
IF8.5
2024-04-091
PRE
Sivera, Rafael; Pelayo-Negro, Ana L.; Jerico, Ivonne; Dominguez-Gonzalez, Cristina; Horga, Alejandro; De Rivera, Francisco J. Rodriguez; Gallardo, Elena; Tembl, Jose Ignacio; Bermejo-Guerrero, Laura; Lorz, Maria Inmaculada Pagola; Azorin, Inmaculada; Cordoba, Marta; Fenollar-Cortes, Maria del Mar; Millet, Elvira; Vilchez, Juan J.; Espinos, Carmen; Apellaniz-Ruiz, Maria; Sevilla, Teresa
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathy
NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY
IF3.4
2022-04-108
OAAI
Argente-Escrig, Herminia; Vilchez, Juan J.; Frasquet, Marina; Muelas, Nuria; Azorin, Inmaculada; Vilchez, Roger; Millet-Sancho, Elvira; Pitarch, Inmaculada; Tomas-Vila, Miguel; Vazquez-Costa, Juan F.; Mas-Estelles, Fernando; Marco-Marin, Clara; Espinos, Carmen; Serrano-Lorenzo, Pablo; Martin, Miguel A.; Lupo, Vincenzo; Sevilla, Teresa
Wilson disease: revision of diagnostic criteria in a clinical series with great genetic homogeneity
JOURNAL OF GASTROENTEROLOGY
IF5.5
2020-11-0712
PREAI
Garcia-Villarreal, Luis; Hernandez-Ortega, Andrea; Sanchez-Monteagudo, Ana; Pena-Quintana, Luis; Ramirez-Lorenzo, Teresa; Riano, Marta; Moreno-Perez, Raquel; Monescillo, Alberto; Gonzalez-Santana, Daniel; Quinones, Ildefonso; Sanchez-Villegas, Almudena; Olmo-Quintana, Vicente; Garay-Sanchez, Paloma; Espinos, Carmen; Gonzalez, Jesus M.; Tugores, Antonio
Delineating the motor phenotype of SGCE-myoclonus dystonia syndrome
PARKINSONISM & RELATED DISORDERS
IF3.4
2020-11-019
PREAI
Vanegas, Maria, I; Marce-Grau, Anna; Marti-Sanchez, Laura; Mellid, Sara; Baide-Mairena, Heidy; Correa-Vela, Marta; Cazurro, Anna; Rodriguez, Carla; Toledo, Laura; Fernandez-Ramos, Joaquin Alejandro; Pons, Roser; Aguilera-Albesa, Sergio; Marti, Maria Jose; Eiris, Jesus; Iglesias, Gema; De Fabregues, Oriol; Maqueda, Elena; Garriz-Luis, Maite; Madruga, Marcos; Espinos, Carmen; Macaya, Alfons; Cabrera, Jose Carlos; Perez-Duenas, Belen
Impaired proteasome activity and neurodegeneration with brain iron accumulation in FBXO7 defect
ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY
IF3.9
2020-08-0624
OAAI
Correa-Vela, Marta; Lupo, Vincenzo; Montpeyo, Marta; Sancho, Paula; Marce-Grau, Anna; Hernandez-Vara, Jorge; Darling, Alejandra; Jenkins, Alison; Fernandez-Rodriguez, Sandra; Tello, Cristina; Ramirez-Jimenez, Laura; Perez, Belen; Sanchez-Montanez, Angel; Macaya, Alfons; Sobrido, Maria J.; Martinez-Vicente, Marta; Perez-Duenas, Belen; Espinos, Carmen

研究方向

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V
Vincenzo Lupo
H 指数:22论文数:53被引数:1,106
T
Teresa Sevilla
H 指数:37论文数:162被引数:4,035
F
Francesc Palau
H 指数:48论文数:284被引数:1.0万
J
Juan J. Vílchez
H 指数:49论文数:237被引数:7,189
D
Dolores Martínez‐Rubio
H 指数:16论文数:27被引数:828
R
Rafael Sivera
H 指数:16论文数:52被引数:1,084
J
José M. Millán
H 指数:48论文数:232被引数:7,134
J
Juan F. Vázquez‐Costa
H 指数:26论文数:160被引数:2,029
M
María José Chumillas
H 指数:16论文数:29被引数:1,103
B
Belén Pérez‐Dueñas
H 指数:44论文数:189被引数:5,773