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Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2.
Published in:
2017
By:
- Hernández‐Laín, Aurelio;
- Esteban‐Pérez, Jesús;
- Montenegro, Diana Cantero;
- Domínguez‐González, Cristina
Publication type:
journal article
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.
Published in:
Journal of Neurology, 2020, v. 267, n. 9, p. 2546, doi. 10.1007/s00415-020-09872-7
By:
- Panadés-de Oliveira, Luísa;
- Bermejo-Guerrero, Laura;
- de Fuenmayor-Fernández de la Hoz, Carlos Pablo;
- Cantero Montenegro, Diana;
- Hernández Lain, Aurelio;
- Martí, Pilar;
- Muelas, Nuria;
- Vilchez, Juan J.;
- Domínguez-González, Cristina
Publication type:
Article
Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.
Published in:
Journal of Neurology, 2019, v. 266, n. 4, p. 934, doi. 10.1007/s00415-019-09217-z
By:
- Panadés-de Oliveira, Luísa;
- Rodríguez-López, Claudia;
- Cantero Montenegro, Diana;
- Marcos Toledano, María del Mar;
- Fernández-Marmiesse, Ana;
- Esteban Pérez, Jesús;
- Hernández Lain, Aurelio;
- Domínguez-González, Cristina
Publication type:
Article
Phase II Trial of Palbociclib in Recurrent Retinoblastoma-Positive Anaplastic Oligodendroglioma: A Study from the Spanish Group for Research in Neuro-Oncology (GEINO).
Published in:
Targeted Oncology, 2020, v. 15, n. 5, p. 613, doi. 10.1007/s11523-020-00754-6
By:
- Sepúlveda-Sánchez, Juan Manuel;
- Gil-Gil, Miguel;
- Alonso-García, Miriam;
- Vaz Salgado, María Ángeles;
- Vicente, Elena;
- Mesía Barroso, Carlos;
- Rodríguez Sánchez, Ángel;
- Durán, Gema;
- De Las Peñas, Ramón;
- Muñoz-Langa, José;
- Velasco, Guillermo;
- Hernández-Laín, Aurelio;
- Hilario, Amaya;
- Navarro Martín, Miguel;
- Benavides, Manuel;
- Oleaga, Laura;
- Cantero Montenegro, Diana;
- Ruano, Yolanda;
- Sánchez-Gómez, Pilar;
- Martín-Soberón, María Cruz
Publication type:
Article

Found: 4

Myosin myopathy with external ophthalmoplegia associated with a novel homozygous mutation in MYH2.

Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrum.

Bethlem myopathy: a series of 16 patients and description of seven new associated mutations.

Phase II Trial of Palbociclib in Recurrent Retinoblastoma-Positive Anaplastic Oligodendroglioma: A Study from the Spanish Group for Research in Neuro-Oncology (GEINO).