[EN] Mutations in the GDAP1 gene cause different forms of Charcot-Marie-Tooth (CMT) disease, and the primary clinical expression of this disease is markedly variable in the dominant inheritance form (CMT type 2K; CMT2K), ...
[EN] Usher syndrome (USH) is an autosomal recessive hereditary disorder characterised by congenital sensorineural hearing loss and gradual visual impairment secondary to retinitis pigmentosa (RP). The disorder is clinically ...
Lupo,Vincenzo; Galindo, Máximo Ibo; Martínez-Rubio, Dolores; Sevilla, Teresa; Vílchez, Juan José; Palau, Francesc; Espinós-Armero, Carmen Ángeles(Oxford University Press, 2009-12-01)
[EN]
Mutations in SH3TC2 (KIAA1985) cause Charcot-Marie-Tooth disease (CMT) type 4C, a demyelinating inherited neuropathy characterized by early-onset and scoliosis. Here we demonstrate that the SH3TC2 protein is present ...
Sevilla, Teresa; Lupo, Vincenzo; Martínez-Rubio, Dolores; Sancho, Paula; Sivera, Rafael; Chumillas, María J.; García-Romero, Mar; Pascual-Pascual, Samuel I.; Muelas, Nuria; Dopazo, Joaquín; Vílchez, Juan J.; Palau, Francesc; Espinós-Armero, Carmen Ángeles(Oxford University Press, 2016-01-01)
[EN] Charcot-Marie-Tooth disease (CMT) is a complex disorder with wide genetic heterogeneity. Here we present a new axonal Charcot-Marie-Tooth disease form, associated with the gene microrchidia family CW-type zinc finger ...
Espinós-Armero, Carmen Ángeles; Pineda, M.; Martínez-Rubio, D.; Aída Ormazabal; María Antonia Vilaseca; Leo J. M. Spaapen; Palau, Francesc; Rafael Artuch; Lupo,V(BMJ, 2009-06)
[EN] Urocanase is an enzyme in the histidine pathway encoded by the UROC1 gene. This report describes the first putative mutations, p. L70P and p.R450C, in the coding region of the UROC1 gene in a girl with urocanic aciduria ...
Sivera, Rafael; Espinós-Armero, Carmen Ángeles; Vílchez, Juan J.; Mas, Fernando; Martínez-Rubio, Dolores; Chumillas, María José; Mayordomo, Fernando; Muelas, Nuria; Bataller, Luis; Palau, Francesc; Sevilla, Teresa(Blackwell Publishing, 2010-12)
[EN] Mutations in the ganglioside-induced-differentiation-associated protein 1 gene (GDAP1) can cause Charcot-Marie-Tooth (CMT) disease with demyelinating (CMT4A) or axonal forms (CMT2K and ARCMT2K). Most of these mutations ...
Casaña, Pilar; Martínez, Francisco; Haya, Saturnino; Lorenzo, José Ignacio; Espinós-Armero, Carmen Ángeles; Aznar, José A.(Blackwell Publishing, 2000-11)
[EN] Type 3 von Willebrand disease, a recessive autosomally inherited bleeding disorder, refers to complete deficiency of von Willebrand factor (VWF). The novel Q1311X mutation was detected in the homozygous state in four ...
Casaña, Pilar; Martínez, Francisco; Espinós-Armero, Carmen Ángeles; Haya, Saturnino; Lorenzo, José Ignacio; Aznar, José A.(John Wiley & Sons, 1998-09)
[EN]
von Willebrand Disease (vWD) is the most frequently inherited bleeding disorder in humans, and is caused by a qualitative and/or quantitative abnormality of the von Willebrand factor (vWF), A large number of defects ...
Casaña, Pilar; Cabrera, Noelia; Cid, Ana Rosa; Haya, Saturnino; Beneyto, Magdalena; Espinós-Armero, Carmen Ángeles; Cortina, Vicente; Dasí, María Angeles; Aznar, José Antonio(Ferrata Storti Foundation, 2008-07)
[EN]
Hemophilia A is an X-linked recessive disorder caused by a lack or decrease of factor VIII activity. Its socio-economic impact is high given its high bleeding expression and treatment cost. Our aim was to establish ...
Estelle Arnaud Gouttenoire; Lupo,V; Calpena-Corpas, Eduardo; Luca Bartesaghi; Fanny Schüpfer; Jean-Jacques Médard; Fabienne Maurer; Jacques S Beckmann; Jan Senderek; Palau, Francesc; Espinós-Armero, Carmen Ángeles; Roman Chrast(John Wiley & Sons, 2013-07)
[EN] Mutations in SH3TC2 trigger autosomal recessive demyelinating Charcot-Marie-Tooth type 4C (CMT4C) neuropathy. Sh3tc2 is specifically expressed in Schwann cells and is necessary for proper myelination of peripheral ...
Casaña-Gargallo, María Pilar; Martínez, Francisco; Haya, Saturnino; Espinós-Armero, Carmen Ángeles; Aznar, José A.(Blackwell Publishing, 2001-12)
[EN] Significant linkage of types 2A and 2B von Willebrand disease (VWD) to the von Willebrand factor (VWF) gene have been reported, as well as mutations in the VWF gene. However, data for the partial quantitative variant ...
[EN]
Background and purpose: A three-generation family affected by axonal Charcot-Marie-Tooth disease (CMT) was investigated with the aim of discovering genetic defects and to further characterize the phenotype.
Methods: ...
Claramunt, R.; Sevilla, Teresa; Lupo,Vincenzo; Cuesta, A.; Millán, J.M.; Vilchez, Juan J.; Palau, F.; Espinós-Armero, Carmen Ángeles(Blackwell Publishing, 2007-04)
[EN] Charcot-Marie-Tooth (CMT) disease type 4 (CMT4) is the name given to autosomal recessive forms of hereditary motor and sensory neuropathy (HMSN). When we began this study, three genes or loci associated with inherited ...
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 ...
Adato, Avital; Vreugde, Sarah; Joensuu, Tarja; Avidan, Nili; Hamalainen, Riikka; Belenkiy, Olga; Olender, Tsviya; Bonne-Tamir, Batsheva; Ben-Asher, Edna; Espinós-Armero, Carmen Ángeles; Millán, José M.; Lehesjoki, Anna-Elina; Flannery, John G.; Avraham, Karen B.; Pietrokovski, Shmuel; Sankila, Eeva-Marja; Beckmann, Jacques S.; Lancet, Doron(Nature Publishing Group, 2002-06)
[EN] Usher syndrome type 3 (USH3) is an autosomal recessive disorder characterised by the association of post-lingual progressive hearing loss, progressive visual loss due to retinitis pigmentosa and variable presence of ...
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 ...