Home > Search Results: Corral-Juan, Marc
  Search Tips
Advanced Search
Search collections:
Sort by: Display results: Output format:
Results overview: Found 2 records in 0.02 seconds.
Articles, 2 records found
Articles 2 records found  
1.
21 p, 2.0 MB New spinocerebellar ataxia subtype caused by SAMD9L mutation triggering mitochondrial dysregulation (SCA49) / Corral-Juan, Marc (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Casquero, Pilar (Hospital Mateu Orfila) ; Giraldo-Restrepo, Natalia (Hospital Mateu Orfila) ; Laurie, Steve (Centro Nacional de Análisis Genómico (Barcelona)) ; Martínez-Piñeiro, Alicia (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mateo-Montero, Raidili Cristina (Hospital Mateu Orfila) ; Ispierto, Lourdes (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Vilas, Dolores (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Tolosa, Eduardo (Institut d'Investigacions Biomèdiques August Pi i Sunyer) ; Volpini, Víctor (Institut d'Investigació Biomèdica de Bellvitge) ; Álvarez, Ramiro (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Sánchez, Ivelisse (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Matilla-Dueñas, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Universitat Autònoma de Barcelona
Spinocerebellar ataxias consist of a highly heterogeneous group of inherited movement disorders clinically characterized by progressive cerebellar ataxia variably associated with additional distinctive clinical signs. [...]
2022 - 10.1093/braincomms/fcac030
Brain Communications, Vol. 4 (february 2022)
2 documents
Detailed record - Creative Commons
2.
10 p, 1.6 MB Perrault syndrome with neurological features in a compound heterozygote for two TWNK mutations : Overlap of TWNK-related recessive disorders / Domínguez-Ruiz, María (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; García-Martínez, Alberto (Department of Neurology. Servicio de Neurología. Hospital Universitario Central de Asturias) ; Corral-Juan, Marc (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Pérez-Álvarez, Ángel I. (Department of Neurology. Servicio de Neurología. Hospital Universitario Central de Asturias) ; Plasencia, Ana M. (Hospital Universitario Central de Asturias) ; Villamar, Manuela (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Moreno-Pelayo, Miguel A. (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Matilla-Dueñas, Antoni (Institut Germans Trias i Pujol. Hospital Universitari Germans Trias i Pujol) ; Mendez-Gonzalez, Manuel (Hospital Universitario Central de Asturias) ; Del Castillo, Ignacio (Centro de Investigación Biomédica en Red de Enfermedades Raras) ; Universitat Autònoma de Barcelona
Background: Perrault syndrome is a rare autosomal recessive disorder that is characterized by the association of sensorineural hearing impairment and ovarian dysgenesis in females, whereas males have only hearing impairment. [...]
2019 - 10.1186/s12967-019-2041-x
Journal of translational medicine, Vol. 17 Núm. 1 (28 2019) , p. 290  
Detailed record - Creative Commons

See also: similar author names
Interested in being notified about new results for this query?
Set up a personal email alert or subscribe to the RSS feed.
UAB Digital Repository of Documents :: Search :: Submit :: Personalize :: Help
Powered by Invenio v1.1.6
Maintained by ddd.bib@uab.cat  :: Metadata license:
Working with