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1
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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2Diagnostic 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 -
3Clinical 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