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Journal of Neuro-Ophthalmology : the Official Journal of the North American Neuro-Ophthalmology Society|July 18, 2012
Pourfour du Petit syndrome associated with a cervical vertebral anomalyCristina Marín-Lambíes, Enrique España-Gegori, Roberto Gallego-Pinazo, et al.
Neurology|December 12, 2024
Asymptomatic HyperCKemia in the Pediatric Population: A Prospective Study Utilizing Next-Generation Sequencing and Ancillary TestsPilar Marti, Inmaculada Pitarch-Castellano, Nuria Muelas, et al.
European Journal of Neurology|January 21, 2026
Diagnostic Yield and Genotype-Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern SpainLidón Carretero-Vilarroig, Rafael Sivera, Raquel Baviera, et al.
Journal of Neurology|June 29, 2026
Long-term persistence, safety and effectiveness of nusinersen in spinal muscular atrophy: a population-based studyKarolina Aragon-Gawinska, Nancy Carolina Nungo-Garzon, Nuria Muelas, et al.
Brain : a Journal of Neurology|September 25, 2008
Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathyTeresa Sevilla, Teresa Jaijo, Dolores Nauffal, et al.
Journal of the Peripheral Nervous System : JPNS|January 5, 2011
Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth diseaseRafael Sivera, Carmen Espinós, Juan J Vílchez, et al.
Neurology|October 1, 2013
Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical seriesRafael Sivera, Teresa Sevilla, Juan Jesús Vílchez, et al.
European Journal of Neurology|July 25, 2024
Insights into phenotypic variability caused by GARS1 pathogenic variantsJesús Jiménez-Jiménez, Irene Navarrete, Inmaculada Azorín, et al.
Frontiers in Cell and Developmental Biology|June 1, 2022
Transcriptomic Evidence of the Immune Response Activation in Individuals With Limb Girdle Muscular Dystrophy Dominant 2 (LGMDD2) Contributes to Resistance to HIV-1 InfectionFrancisco Diez-Fuertes, María Rosa López-Huertas, Javier García-Pérez, et al.
Journal of Neurology|May 6, 2020
Persistent asymptomatic or mild symptomatic hyperCKemia due to mutations in ANO5: the mildest end of the anoctaminopathies spectrumLuísa Panadés-de Oliveira, Laura Bermejo-Guerrero, Carlos Pablo de Fuenmayor-Fernández de la Hoz, et al.
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