Zobrazeno 1 - 10
of 206
pro vyhledávání: '"JM Millán"'
Autor:
S. C. Torres-Sánchez, José Bono-Yagüe, María Dolores Sequedo, V. Fornés-Ferrer, JM Millán, Pascual Sanz, Maria Adelaida Garcia-Gimeno, David Hervás, Ana Pilar Gómez-Escribano, Rafael P. Vázquez-Manrique
Publikováno v:
PHARMACOLOGICAL RESEARCH
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Digital.CSIC. Repositorio Institucional del CSIC
Pharmacological research
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Digital.CSIC. Repositorio Institucional del CSIC
Pharmacological research
11 páginas, 4 figuras. Supplementary material related to this article can be found, in the online version, at doi: https://doi.org/10.1016/j.phrs.2020.105105.
Expression of abnormally long polyglutamine (polyQ) tracks is the source of a range o
Expression of abnormally long polyglutamine (polyQ) tracks is the source of a range o
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dc3673aa7815898f2203a6aa5b51d7b9
http://hdl.handle.net/10261/219295
http://hdl.handle.net/10261/219295
Autor:
AP Gómez-Escribano, C Mora-Martínez, M Roca, DS Walker, J Panadero, MD Sequedo, R Saini, HJ Knölker, J Blanca, J Burguera, A Lahoz, J Cañizares, JM Millán, N Burton, WR Schafer, RP Vázquez-Manrique
Protein homeostasis is crucial for viability of all organisms and the development of many different human pathologies are caused by mutations that enhance protein aggregation. For example, several forms of muscular dystrophy are caused by mutations t
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::552ea15aa53cb49ba318382f54fa3eae
https://doi.org/10.1101/551580
https://doi.org/10.1101/551580
Autor:
Jaume Colomer, C. Márquez, Carmen Espinós, Dolores Martínez-Rubio, Carmen Paradas, Francesc Palau, JM Millán, Teresa Jaijo, Teresa Sevilla
Publikováno v:
Clinical Genetics. 83:565-570
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 type 4D (CMT4D/HMSN-Lom); p.C737_
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b956f85def218e3275e1b04ad84fb332
https://doi.org/10.1111/cge.12015
https://doi.org/10.1111/cge.12015
Autor:
R Claramunt, JM Millán, Juan J. Vílchez, Carmen Espinós, Francesc Palau, Ana Cuesta, Teresa Sevilla, Vincenzo Lupo
Publikováno v:
CLINICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
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 peripheral neuropathies had alre
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50db0666996023aebb46ba986ee1161d
https://doi.org/10.1111/j.1399-0004.2007.00774.x
https://doi.org/10.1111/j.1399-0004.2007.00774.x
Autor:
Ejarque I, Jm, Millán-Salvador, Oltra S, Jv, Pesudo-Martínez, Beneyto M, Antonio Perez-Aytes
Publikováno v:
REVISTA DE NEUROLOGIA
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Europe PubMed Central
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Europe PubMed Central
Introduction. Noonan syndrome (NS) and other syndromes with a similar phenotype, such as LEOPARD, cardiofaciocutaneous, Costello and Legius, are associated to mutations in genes included in the RAS/MAPK pathway (RASopathies), which is an important si
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::6e7ceda8f6672b143ab7281c4e67da19
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1732
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=1732
Publikováno v:
Clinical Genetics. 66:525-529
Usher syndrome type III is an autosomal recessive disorder clinically characterized by the association of retinitis pigmentosa (RP), variable presence of vestibular dysfunction and progressive hearing loss, being the progression of the hearing impair
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::99d23ad51c20ac046904ffcc0dea8b3c
https://doi.org/10.1111/j.1399-0004.2004.00352.x
https://doi.org/10.1111/j.1399-0004.2004.00352.x
Autor:
J Andrés, Francisco Martínez, Lourdes Badía, Félix Prieto, JM Millán, Montero, Carmen Orellana
Publikováno v:
Clinical Genetics. 60:206-211
In this report we present the clinical features and molecular and cytogenetic findings in a female with partial trisomy 14q. Molecular and cytogenetic studies allowed us to determine that the extra 14q material (of paternal origin) was translocated p
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::318ac0dd5d9c8c4b00b3277ce086bc76
https://doi.org/10.1034/j.1399-0004.2001.600306.x
https://doi.org/10.1034/j.1399-0004.2001.600306.x
Publikováno v:
HUMAN GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
In the current study, 12 Spanish families affected by type-I Usher syndrome, that was previously linked to chromosome 11q, were screened for the presence of mutations in the N-terminal coding portion of the motor domain of the myosin VIIA gene by sin
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::06846342f44b3a2c34369351813e6999
https://doi.org/10.1007/s004390050763
https://doi.org/10.1007/s004390050763
Publikováno v:
Francisco Martinez
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scopus-Elsevier
JOURNAL OF MEDICAL GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Scopus-Elsevier
We report on two brothers and one maternal cousin with severe mental retardation, microcephaly, short stature, cryptorchidism, and spastic diplegia. The patients were born to normal and non-consanguineous parents. All other members of the family, alm
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8e1ab65f5067c765179e28af64eb4ad1
https://doi.org/10.1136/jmg.35.4.284
https://doi.org/10.1136/jmg.35.4.284
Autor:
JM Millán, Cristina Martinez-Fernandez de la Camara, Regina Rodrigo, Ma Dolores Sequedo, Manuel Díaz-Llopis, David Hervás, Elena Aller, Cristina Marín-Lambíes, David Salom, Teresa Jaijo
Publikováno v:
PLoS ONE
PLoS ONE, Vol 8, Iss 9, p e74223 (2013)
PLoS ONE Vol. 8 Issue 9
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
PLoS ONE, Vol 8, Iss 9, p e74223 (2013)
PLoS ONE Vol. 8 Issue 9
RODERIC. Repositorio Institucional de la Universitat de Valéncia
instname
Retinitis Pigmentosa is a common form of hereditary retinal degeneration constituting the largest Mendelian genetic cause of blindness in the developed world. It has been widely suggested that oxidative stress possibly contributes to its pathogenesis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2d0a67b9575d095cef25e35b621caf4f
https://pubmed.ncbi.nlm.nih.gov/24069283
https://pubmed.ncbi.nlm.nih.gov/24069283