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Skeletal Muscle|October 1, 2024
Deletion of exons 45 to 55 in the DMD gene: from the therapeutic perspective to the in vitro modelJavier Poyatos-García, Patricia Soblechero-Martín, Alessandro Liquori, et al.Journal of the Neurological Sciences|September 9, 2021
Clinical and genetic characteristics of 21 Spanish patients with biallelic pathogenic SPG7 mutationsRaquel Baviera-Muñoz, Marina Campins-Romeu, Lidón Carretero-Vilarroig, et al.Brain : a Journal of Neurology|April 2, 2013
Limb-girdle muscular dystrophy 1F is caused by a microdeletion in the transportin 3 geneMaria J Melià, Akatsuki Kubota, Saida Ortolano, et al.Neurology|March 3, 2017
Netrin-1 receptor antibodies in thymoma-associated neuromyotonia with myasthenia gravisEstefanía Torres-Vega, Nuria Mancheño, Arantxa Cebrián-Silla, et al.Neuromuscular Disorders : NMD|May 23, 2015
Targeted screening for the detection of Pompe disease in patients with unclassified limb-girdle muscular dystrophy or asymptomatic hyperCKemia using dried blood: A Spanish cohortE Gutiérrez-Rivas, J Bautista, J J Vílchez, et al.Journal of Medical Genetics|March 13, 2020
Clinical, pathological and genetic spectrum in 89 cases of mitochondrial progressive external ophthalmoplegiaClaudia Rodríguez-López, Luis M García-Cárdaba, Alberto Blázquez, et al.Neuromuscular Disorders : NMD|October 31, 2006
Dysferlin expression in monocytes: a source of mRNA for mutation analysisN De Luna, A Freixas, P Gallano, et al.Neuropathology and Applied Neurobiology|March 28, 2022
A novel TRMT5 mutation causes a complex inherited neuropathy syndrome: The role of nerve pathology in defining a demyelinating neuropathyHerminia Argente-Escrig, Juan J Vílchez, Marina Frasquet, et al.Neurology|June 29, 2018
A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spineMacarena Cabrera-Serrano, Fabiola Mavillard, Valerie Biancalana, et al.Brain : a Journal of Neurology|January 25, 2014
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3Uwe Kornak, Inès Mademan, Marte Schinke, et al.Pageof 8