Zobrazeno 1 - 10
of 22
pro vyhledávání: '"Isabel Banchs"'
Autor:
María I. Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs, Juan R. González, Lluís Armengol, Ricardo P. Casaroli-Marano
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-9 (2021)
Abstract Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments o
Externí odkaz:
https://doaj.org/article/003dc5dc60104e7fa3fe16b886eea31a
Autor:
María I. Canut, Olaya Villa, Bachar Kudsieh, Heidi Mattlin, Isabel Banchs, Juan R. González, Lluís Armengol, Ricardo P. Casaroli‑Marano
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
An amendment to this paper has been published and can be accessed via a link at the top of the paper.
Externí odkaz:
https://doaj.org/article/b8c420de0a704146a03977528df10e64
Autor:
Juan R. González, Heidi Mattlin, Olaya Villa, Maria Isabel Canut, Bachar Kudsieh, Ricardo P. Casaroli-Marano, Isabel Banchs, Lluís Armengol
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-1 (2021)
Scientific Reports
Scientific Reports
Predicting the therapeutic response to ocular hypotensive drugs is crucial for the clinical treatment and management of glaucoma. Our aim was to identify a possible genetic contribution to the response to current pharmacological treatments of choice
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95aa9b57ebedf7c4ffce3a36a03386eb
https://doaj.org/article/b8c420de0a704146a03977528df10e64
https://doaj.org/article/b8c420de0a704146a03977528df10e64
Autor:
Jordi Montero, Maria Antonia Alberti, Mònica Povedano, Isabel Banchs, Laura de Jorge, Carlos Casasnovas, Victor Volpini, Yolanda Martínez-Campo
Publikováno v:
Muscle & Nerve. 45:135-138
Introduction: In this study we examined a family with electrophysiological findings of hereditary neuropathy with liability to pressure palsies (HNPP) and a mild clinical presentation.Methods: Four members of a family were referred for diagnosis of H
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76185942e332db1eb8add247bcc062dd
https://doi.org/10.1002/mus.22201
https://doi.org/10.1002/mus.22201
Publikováno v:
Muscle & Nerve. 42:184-188
Charcot–Marie–Tooth (CMT) disease is a heterogeneous group of inherited sensory and motor neuropathies. Mutations in the gene that encodes for myelin protein zero (MPZ) can produce different phenotypes: CMT1 (with low conduction velocities), CMT2
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::c46feab8885795d5d7397e9e943fb8ee
https://doi.org/10.1002/mus.21643
https://doi.org/10.1002/mus.21643
Autor:
Victor Volpini, Isabel Banchs, Naïg Gueguen, Arnaud Chevrollier, Dominique Bonneau, Carlos Casasnovas, Juan Antonio Martínez-Matos, Julien Cassereau
Publikováno v:
Journal of medical genetics
Journal of medical genetics, 2010, 47 (4), pp.249-56. ⟨10.1136/jmg.2009.072488⟩
Journal of medical genetics, 2010, 47 (4), pp.249-56. ⟨10.1136/jmg.2009.072488⟩
International audience; INTRODUCTION: The most common form of axonal Charcot-Marie-Tooth (CMT) disease is type 2A, caused by mutations in the mitochondrial GTPase mitofusin 2 (MFN2). OBJECTIVE: The objective of our study is to establish the incidence
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::95da2df2bfed76147cc1d964f04f0e5f
https://doi.org/10.1136/jmg.2009.072488
https://doi.org/10.1136/jmg.2009.072488
Autor:
Roser Corominas, Isabel Banchs, José M. Fernández-Fernández, Pilar Latorre, Victor Volpini, Selma A. Serra, Bru Cormand, Miguel A. Valverde, Noèlia Fernàndez-Castillo, Ester Cuenca-León, Alfons Macaya
Publikováno v:
Digital.CSIC. Repositorio Institucional del CSIC
instname
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We report a patient with typical features of episodic ataxia type 2 (EA2) but with onset in the sixth decade and associated interictal hand dystonia. He was found to bear the novel heterozygous missense mutation p.Gly638Asp (c.1913G > A) in the CACNA
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1ac32d6faa977823d0a53436af4055c4
https://doi.org/10.1016/j.jns.2009.01.005
https://doi.org/10.1016/j.jns.2009.01.005
Publikováno v:
Neuromuscular Disorders. 18:974-978
Mutations in the Mitofusin 2 (MFN2) gene have been related to the axonal type of Charcot-Marie-Tooth type 2 (CMT 2A). We report the first two Spanish families with CMT 2 and mutations in MFN2 gene. Molecular studies of one family with late onset reve
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::89acddf2fd81e30a28b5501e3ccb01a2
https://doi.org/10.1016/j.nmd.2008.09.006
https://doi.org/10.1016/j.nmd.2008.09.006
Autor:
David Genís, Hector San Nicolás, Isabel Banchs, Victor Volpini, Jordi Corral, Judith Armstrong
Publikováno v:
Annals of Neurology. 57:549-553
We report here a family in which each of nine children has inherited giant SCA8 CTG expansions from a homozygous mother who has two moderately large SCA8 CTG alleles. In contrast, three homozygous male individuals and a case of coexistence of two exp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::92ba627dd0346013ee77a6ebdb89f329
https://doi.org/10.1002/ana.20421
https://doi.org/10.1002/ana.20421
Autor:
Montserrat Olivé, Nuria Lopez-Bigas, Raquel Rabionet, Juan Antonio Martínez-Matos, Orit Ben-David, V. Volpini, Isabel Banchs, Karen B. Avraham, Olga Bravo, Isidre Ferrer, Maria L. Arbonés, Xavier Estivill, Paolo Gasparini
Publikováno v:
Scopus-Elsevier
Mutations in the connexin 31 (GJB3) gene have been found in subjects with dominant and recessive deafness and in patients with erythrokeratodermia variabilis. We report here a dominant mutation in the GJB3 gene (D66del) in a family affected with peri
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7089610e8f13ca302c16f86c32b46ca5
https://doi.org/10.1093/hmg/10.9.947
https://doi.org/10.1093/hmg/10.9.947