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1دورية أكاديمية
المؤلفون: 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
المصدر: International Journal of Molecular Sciences, Vol 23, Iss 19, p 11847 (2022)
مصطلحات موضوعية: movement disorders, ataxia, cerebellar atrophy, neurodegeneration with brain iron accumulation (NBIA), gene panel, exome sequencing, Biology (General), QH301-705.5, Chemistry, QD1-999
وصف الملف: electronic resource
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2
المؤلفون: 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
المصدر: Movement Disorders Clinical Practice.
مصطلحات موضوعية: Neurology, Neurology (clinical)
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3Diagnostic Efficacy of Genetic Studies in a Series of Hereditary Cerebellar Ataxias in Eastern Spain
المؤلفون: 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
المصدر: Neurology. Genetics. 8(6)
مصطلحات موضوعية: Neurology (clinical), Genetics (clinical)
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1195d4c0d80c5e8e15a487923001d21a
https://pubmed.ncbi.nlm.nih.gov/36530930 -
4
المؤلفون: Marina Campins-Romeu, Teresa Jaijo, Isabel Sastre-Bataller, Raquel Baviera-Muñoz, Luis Bataller, Irene Martínez-Torres
المصدر: Mov Disord Clin Pract
Movement Disorders Clinical Practice
r-IIS La Fe. Repositorio Institucional de Producción Científica del Instituto de Investigación Sanitaria La Fe
instnameمصطلحات موضوعية: Dystonia, medicine.medical_specialty, Hereditary spastic paraplegia, business.industry, hereditary paraplegia, medicine.disease, Dermatology, SPG7, Letters: Genotype and Phenotype, Neurology, medicine, Neurology (clinical), business, multifocal dystonia
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5Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutations
المؤلفون: 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
المصدر: Journal of the neurological sciences. 429
مصطلحات موضوعية: medicine.medical_specialty, Neurogenetics, Compound heterozygosity, Gastroenterology, Internal medicine, medicine, Spastic, Humans, Myopathy, Subclinical infection, Dystonia, Cerebellar ataxia, business.industry, Spastic Paraplegia, Hereditary, Metalloendopeptidases, medicine.disease, nervous system diseases, Optic Atrophy, Phenotype, Neurology, Mutation, ATPases Associated with Diverse Cellular Activities, Neurology (clinical), medicine.symptom, business, Spastic paraplegia type 7
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6
المؤلفون: 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
المصدر: 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)مصطلحات موضوعية: Pediatrics, medicine.medical_specialty, SPECTRUM, Prominent forehead, business.industry, Genitourinary system, medicine.disease, Short stature, Intellectual disability, medicine, Atypical Parkinsonism, Neurology (clinical), medicine.symptom, Hypertelorism, business, Gene, Clinical/Scientific Notes, Genetics (clinical), Early onset
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e588b63ce3aff1b87175b5fddbff599d
https://fundanet.iislafe.san.gva.es/publicaciones/ProdCientif/PublicacionFrw.aspx?id=15282 -
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المؤلفون: Marina Campins Romeu, Isabel Sastre Bataller, Vicente Pons Beltrán, Raquel Baviera Muñoz, Mireya Losada López, Carlos Morata Martínez, Julia Pérez García, Irene Martínez Torres
المصدر: Revista de Neurología. 74:143
مصطلحات موضوعية: Neurology (clinical), General Medicine
URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_________::ef63db22af9223e7e05b75ed04e39be9
https://doi.org/10.33588/rn.7405.2021482