Darling, Alejandra; Aguilera-Albesa, Sergio; Aisha Tello, Cristina; Serrano, Mercedes; Tomas, Miguel; Camino-Leon, Rafael; Fernandez-Ramos, Joaquin; Jimenez-Escrig, Adriano; Poo, Pilar; O'Callaghan, Mar; Ortez, Carlos; Nascimento, Andres; Fernandez Mesaque, Ramon Candau; Madruga, Marcos; Arrabal, Luisa; Roldan, Susana; Gomez-Martin, Hilario; Garrido, Cristina; Temudo, Teresa; Jou-Munoz, Cristina; Muchart, Jordi; Huisman, Thierry A. G. M.; Poretti, Andrea; Lupo, Vincenzo; Espinos, Carmen; Perez-Duenas, Belen

Characterization of molecular mechanisms underlying the axonal Charcot-Marie-Tooth neuropathy caused by MORC2 mutations

HUMAN MOLECULAR GENETICS

IF3.2

2019-01-0832

Characterising the phenotype and mode of inheritance of patients with inherited peripheral neuropathies carrying MME mutations

JOURNAL OF MEDICAL GENETICS

IF3.7

2018-11-1018

OAAI

Phenotypical features of two patients diagnosed with PHARC syndrome and carriers of a new homozygous mutation in the ABHD12 gene

JOURNAL OF THE NEUROLOGICAL SCIENCES

IF3.2

2018-04-0120

PREAI

Substrate interaction defects in histidyl-tRNA synthetase linked to dominant axonal peripheral neuropathy

与显性轴突周围神经病相关的组氨酰-tRNA合成酶的底物相互作用缺陷

HUMAN MUTATION

IF3.7

2017-12-2630

OAAI

Clinical Rating Scale for Pantothenate Kinase-Associated Neurodegeneration: A Pilot Study

MOVEMENT DISORDERS

IF7.6

2017-08-2815

OAAI

Darling, Alejandra; Tello, Cristina; Josep Marti, Maria; Garrido, Cristina; Aguilera-Albesa, Sergio; Tomas Vila, Miguel; Gaston, Itziar; Madruga, Marcos; Gonzalez Gutierrez, Luis; Ramos Lizana, Julio; Pujol, Montserrat; Gavilan Iglesias, Tania; Tustin, Kylee; Lin, Jean Pierre; Zorzi, Giovanna; Nardocci, Nardo; Martorell, Loreto; Lorenzo Sanz, Gustavo; Gutierrez, Fuencisla; Garcia, Pedro J.; Vela, Lidia; Hernandez Lahoz, Carlos; Ortigoza Escobar, Juan Dario; Marti Sanchez, Laura; Moreira, Fradique; Coelho, Miguel; Guedes, Leonor Correia; Caldas, Ana Castro; Ferreira, Joaquim; Pires, Paula; Costa, Cristina; Rego, Paulo; Magalhaes, Marina; Stamelou, Maria; Cuadras Palleja, Daniel; Rodriguez-Blazquez, Carmen; Martinez-Martin, Pablo; Lupo, Vincenzo; Stefanis, Leonidas; Pons, Roser; Espinos, Carmen; Temudo, Teresa; Perez Duenas, Belen

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

Molecular and functional characterization of the BMPR2 gene in Pulmonary Arterial Hypertension

SCIENTIFIC REPORTS

IF3.9

2017-05-1520

OAAI

Chaperonopathies: Spotlight on Hereditary Motor Neuropathies

伴侣病: 遗传性运动神经病的焦点

FRONTIERS IN MOLECULAR BIOSCIENCES

IF4

2016-12-1428

OAAI

Analysis of the subcellular localization in BMPR2 gene in pulmonary arterial hypertension