Browsing by Subject Paraplegia
Showing results 1 to 7 of 7
| Issue Date | Title | Author(s) |
|---|---|---|
| 1-Jan-2020 | A deep intronic splice variant advises reexamination of presumably dominant SPG7 Cases | Verdura, Edgard; Schlüter, Agatha; Fernández Eulate, Gorka; Ramos-Martín, Raquel; Zulaica, Miren; Planas Serra, Laura; Ruiz, Montserrat; Fourcade, Stéphane; Casasnovas Pons, Carlos; López de Munain, Adolfo; Pujol Onofre, Aurora |
| 16-Jan-2016 | Carnitine palmitoyltransferase 1C: from Cognition to Cancer | Casals, Núria; Zammit, Victor; Herrero Rodríguez, Laura; Fadó Andrés, Rut; Rodríguez-Rodríguez, Rosalía; Serra i Cucurull, Dolors |
| 1-Jul-2005 | El trasplante de células de la glía envolvente del bulbo olfatorio tras lesión de la médula espinal: Estudio experimental en ratas. | García-Elias, G.; López-Valdés, E.; Verdú, Enrique; Navarro, X. (Xavier); Suso Vergara, Santiago; Forés Viñeta, Joaquín |
| 16-May-2003 | Paraparesia transitoria como manifestación de una estenosis carotídea izquierda | Bruna, Jordi; Escrig-Avellaneda, Ana; Romero Pinel, Lucía María; Jato-de Evan, Mario; Martínez Yélamos, Sergio; Rubio Borrego, Francisco Ramón |
| 17-Jul-2023 | RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia | Launay, Nathalie; Ruiz, Montserrat; Planas Serra, Laura; Verdura, Edgard; Rodríguez Palmero, Agustí; Schlüter, Agatha; Goicoechea, Leire; Guilera, Cristina; Casas, Josefina; Campelo, Felix; Jouanguy, Emmanuelle; Casanova, Jean-Laurent; Boespflug‐Tanguy, Odile; Vazquez Cancela, Maria; González Gutiérrez-Solana, Luis; Casasnovas, Carlos; Area Gomez, Estela; Pujol, Aurora, 1968- |
| Oct-2022 | Spastic paraplegia and cognitive impairment due to a de novo pathogenic variant in Presenilin-1 | Muñoz, Esteban; Jodar, Meritxell; Guerrero, Jairo; Compta, Yaroslau; Perissinotti, Andrés; Álvarez Mora, María Isabel; Falgàs Martínez, Neus; Rodríguez Revenga, Laia; Sánchez del Valle Díaz, Raquel |
| 12-Jul-2016 | Uniparental disomy of chromosome 16 unmasks recessive mutations of FA2H/SPG35 in 4 families | Soehn, Anne S.; Rattay, Tim W.; Beck-Wödl, Stefanie; Schäferhoff, Karin; Monk, Dave Nicholas; Döbler-Neumann, Marion; Hörtnagel, Konstanze; Schlüter, Agatha; Ruiz, Montserrat; Pujol Onofre, Aurora; Züchner, Stephan; Riess, Olaf; Schüle, Rebecca; Bauer, Peter; Schöls, Ludger |