Buscar en RiuNet

Listar

Todo RiuNet

Mi cuenta

Acceder

Ayuda RiuNet

Admin. UPV

Listar por autor "Jaijo Sanchis, Teresa"

Mostrando ítems 1-4 de 4

Genetic epidemiology of the Charcot-Marie-Tooth in the Spanish Gypsy population: the Hereditary Motor and Sensory Neuropathy type Russe in depth

Sevilla, T.; Martínez-Rubio, D.; Márquez, C.; Paradas, C.; Colomer, J.; Jaijo, T.; Millán, JM; Palau, F.; Espinós-Armero, Carmen Ángeles (Blackwell Publishing, 2013-06)

[EN] Four private mutations responsible for three forms demyelinating of Charcot-Marie-Tooth (CMT) or hereditary motor and sensory neuropathy (HMSN) have been associated with the Gypsy population: the NDRG1 p.R148X in CMT ...
The USH2A c.2299delG mutation: dating its common origin in a Southern European population.

Aller, Elena; Larrieu, Lise; Jaijo, Teresa; David Baux; Espinós-Armero, Carmen Ángeles; González-Candelas, Fernando; Nájera, Carmen; Palau, Francesc; Claustres, Mireille; Roux, Anne Françoise; Millán, José M. (Nature Publishing Group, 2010-07)

[EN] Usher syndrome type II is the most common form of Usher syndrome. USH2A is the main responsible gene of the three known to be disease causing. It encodes two isoforms of the protein usherin. This protein is part of ...
Updating the Genetic Landscape of Inherited Retinal Dystrophies

García-Bohorquez, Belén; Aller, Elena; Rodriguez-Muñoz, Ana; Jaijo, Teresa; García-García, Gema; Millán, José M. (Frontiers Media SA, 2021-07-13)

[EN] Inherited retinal dystrophies (IRD) are a group of diseases characterized by the loss or dysfunction of photoreceptors and a high genetic and clinical heterogeneity. Currently, over 270 genes have been associated with ...
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy

Sevilla, Teresa; Jaijo, Teresa; Nauffal, Dolores; Collado, Diego; Chumillas, María José; Vilchez, Juan J.; Muelas, Nuria; Bataller, Luis; Domènech, Rosalia; Espinós-Armero, Carmen Ángeles; Palau, Francesc (Oxford University Press, 2008-11)

[EN] Cranial nerve involvement in Charcot-Marie-Tooth disease (CMT) is rare, though there are a number of CMT syndromes in which vocal cord paralysis is a characteristic feature. CMT disease due to mutations in the ...

Mostrando ítems 1-4 de 4

Listar por autor "Jaijo Sanchis, Teresa"

RiuNet: Repositorio Institucional de la Universidad Politécnica de Valencia

Buscar en RiuNet

Listar

Todo RiuNet

Mi cuenta

Ayuda RiuNet

Admin. UPV

Listar por autor "Jaijo Sanchis, Teresa"