Zobrazeno 1 - 10
of 15
pro vyhledávání: '"Isabel Sastre-Bataller"'
Autor:
Dolores Martínez-Rubio, Isabel Hinarejos, Paula Sancho, Nerea Gorría-Redondo, Raquel Bernadó-Fonz, Cristina Tello, Clara Marco-Marín, Itxaso Martí-Carrera, María Jesús Martínez-González, Ainhoa García-Ribes, Raquel Baviera-Muñoz, Isabel Sastre-Bataller, Irene Martínez-Torres, Anna Duat-Rodríguez, Patrícia Janeiro, Esther Moreno, Leticia Pías-Peleteiro, Mar O’Callaghan Gordo, Ángeles Ruiz-Gómez, Esteban Muñoz, Maria Josep Martí, Ana Sánchez-Monteagudo, Candela Fuster, Amparo Andrés-Bordería, Roser Maria Pons, Silvia Jesús-Maestre, Pablo Mir, Vincenzo Lupo, Belén Pérez-Dueñas, Alejandra Darling, Sergio Aguilera-Albesa, Carmen Espinós
Publikováno v:
International Journal of Molecular Sciences, Vol 23, Iss 19, p 11847 (2022)
Our clinical series comprises 124 patients with movement disorders (MDs) and/or ataxia with cerebellar atrophy (CA), many of them showing signs of neurodegeneration with brain iron accumulation (NBIA). Ten NBIA genes are accepted, although isolated c
Externí odkaz:
https://doaj.org/article/65e1319d27ad461db2e041f1cb14beef
Autor:
Isabel Sastre-Bataller, Marina Campins-Romeu, Andrés Marcos-Carrión, Antonio Gutiérrez-Martín, Rebeca Conde-Sardón, Mireya Losada-López, José M. Santabárbara-Gómez, José L. León- Guijarro, Vicente Belloch, Andrés M. Lozano, Irene Martínez-Torres
Publikováno v:
Stereotactic and Functional Neurosurgery. 101:12-21
Introduction: Essential tremor (ET) is one of the most prevalent movement disorders in adults and may be highly disabling for some. Magnetic resonance image-guided high-intensity focused ultrasound (MRIgFUS) has been shown to control tremor efficacio
Autor:
Raquel Baviera‐Muñoz, Lidón Carretero‐Vilarroig, Nuria Muelas, Rafael Sivera, Pablo Sopena‐Novales, Begoña Martínez‐Sanchis, Isabel Sastre‐Bataller, Marina Campins‐Romeu, Irene Martínez‐Torres, Jose Manuel García‐Verdugo, Jose M. Millán, Teresa Jaijo, Elena Aller, Luis Bataller
Publikováno v:
Movement Disorders Clinical Practice.
Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
Autor:
Raquel Baviera-Muñoz, Lidón Carretero-Vilarroig, Juan Francisco Vázquez-Costa, Carlos Morata-Martínez, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Julia Pérez-García, Rafael Sivera, Teresa Sevilla, Juan J. Vilchez, Teresa Jaijo, Carmen Espinós, Jose M. Millán, Luis Bataller, Elena Aller
Publikováno v:
Neurology. Genetics. 8(6)
Background and ObjectivesTo determine the diagnostic efficacy of clinical exome-targeted sequencing (CES) and spinocerebellar ataxia 36 (SCA36) screening in a real-life cohort of patients with cerebellar ataxia (CA) from Eastern Spain.MethodsA total
Autor:
Marina Campins-Romeu, Teresa Jaijo, Isabel Sastre-Bataller, Raquel Baviera-Muñoz, Luis Bataller, Irene Martínez-Torres
Publikováno v:
Mov Disord Clin Pract
Movement Disorders Clinical Practice
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Movement Disorders Clinical Practice
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f8bdc8ce3c4c96a9c2e9924adef0c772
https://europepmc.org/articles/PMC8354063/
https://europepmc.org/articles/PMC8354063/
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations
Autor:
Teresa Jaijo, Luis Bataller, Juan J. Vílchez, Juan F. Vázquez-Costa, Elena Aller, Marina Campins-Romeu, Nuria Muelas, Isabel Sastre-Bataller, Irene Martínez-Torres, Carmen Espinós, Teresa Sevilla, Lidón Carretero-Vilarroig, Raquel Baviera-Muñoz
Publikováno v:
Journal of the neurological sciences. 429
Spastic paraplegia type 7 (SPG7) is one of the most common hereditary spastic paraplegias. SPG7 mutations most often lead to spastic paraparesis (HSP) and/or hereditary cerebellar ataxia (HCA), frequently with mixed phenotypes. We sought to clinicall
Autor:
Edurne Novella-Maestre, Mireya Losada-López, Marina Campins-Romeu, Irene Martínez-Torres, Dolores Martínez-Rubio, Isabel Sastre-Bataller, Carmen Espinós, Julia Pérez-García, Raquel Baviera-Muñoz
Publikováno v:
NEUROLOGY-GENETICS
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Neurology: Genetics
article-version (Version of Record) 3
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instname
Neurology: Genetics
article-version (Version of Record) 3
r-CIPF. Repositorio Institucional Producción Científica del Centro de Investigación Principe Felipe (CIPF)
Universitat Rovira i virgili (URV)
Deletions of 2p11.2-p12 are exceedingly rare with few reported cases.1,2 Most patients display a mild-to-moderate developmental delay and intellectual disability. Additional manifestations are happy disposition, tendency to obesity, and minor dysmorp
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e588b63ce3aff1b87175b5fddbff599d
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15282
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15282
Autor:
Marina Campins Romeu, Isabel Sastre Bataller, Vicente Pons Beltrán, Raquel Baviera Muñoz, Mireya Losada López, Carlos Morata Martínez, Julia Pérez García, Irene Martínez Torres
Publikováno v:
Revista de Neurología. 74:143
Autor:
Irene Martinez-Torres, Jaime Masjuan, Paula Pérez-Torre, Juan Carlos Martínez-Castrillo, Isabel Parees-Moreno, Enric Monreal-Laguillo, Uwe Walter, Araceli Alonso-Canovas, Rafael Toledano Delgado, José Ignacio Tembl Ferrairó, Jose Luis López-Sendón Moreno, Isabel Sastre Bataller, Guillermo García Ribas
Publikováno v:
Parkinsonism & related disorders 68, 40-45 (2019). doi:10.1016/j.parkreldis.2019.09.032
Introduction Substantia nigra hyperechogenicity (SN+) in transcranial sonography (TCS) is frequent in Parkinson's disease (PD), while lenticular nucleus hyperechogenicity (LN+) and 3rd ventricle enlargement (3V+) are typical of Atypical Parkinsonisms
Autor:
Ludvic Zrinzo, André Zacharia, Isabel Sastre-Bataller, Marjan Jahanshahi, John C. Rothwell, Thomas Foltynie, Dejan Georgiev, Marwan Hariz, Patricia Limousin
Publikováno v:
Neurophysiologie Clinique. 49:431
Introduction Eighty Hertz vs. 130 Hz stimulation have a different effect on axial symptoms in some patients on chronic subthalamic nucleus (STN) deep brain stimulation in patients with Parkinson's disease (PD). This could be linked to a direct effect