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Journal of the Neurological Sciences|March 27, 2021
Italian cohort of Lafora disease: Clinical features, disease evolution, and genotype-phenotype correlationsAntonella Riva, Alessandro Orsini, Marcello Scala, et al.Genes|October 31, 2018
Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic PatientsTeresa Giugliano, Marco Savarese, Arcomaria Garofalo, et al.Journal of Neurology|March 27, 2015
Redefining phenotypes associated with mitochondrial DNA single deletionMichelangelo Mancuso, Daniele Orsucci, Corrado Angelini, et al.Neurology|June 3, 2021
Clinical and Genetic Features in Patients With Reflex Bathing EpilepsyAndrea Accogli, Gert Wiegand, Marcello Scala, et al.Epilepsia|February 6, 2019
No evidence for a BRD2 promoter hypermethylation in blood leukocytes of Europeans with juvenile myoclonic epilepsyHerbert Schulz, Ann-Kathrin Ruppert, Federico Zara, et al.Cerebellum (London, England)|February 26, 2022
Loss of Neuron Navigator 2 Impairs Brain and Cerebellar DevelopmentAndrea Accogli, Shenzhao Lu, Ilaria Musante, et al.Drugs in R&D|May 28, 2025
Opinion of the Italian Association of Myology on Ataluren for the Treatment of Nonsense Mutation Duchenne Muscular DystrophyLuca Bello, Pietro Riguzzi, Emilio Albamonte, et al.Journal of Clinical Medicine|June 2, 2021
Movement Disorders in Children with a Mitochondrial Disease: A Cross-Sectional Survey from the Nationwide Italian Collaborative Network of Mitochondrial DiseasesChiara Ticci, Daniele Orsucci, Anna Ardissone, et al.American Journal of Human Genetics|April 2, 2019
Mutations in the Neuronal Vesicular SNARE VAMP2 Affect Synaptic Membrane Fusion and Impair Human NeurodevelopmentVincenzo Salpietro, Nancy T Malintan, Isabel Llano-Rivas, et al.Neurology. Genetics|March 4, 2021
Genotype-phenotype correlations in patients with de novo KCNQ2 pathogenic variantsFederica Malerba, Giulio Alberini, Ganna Balagura, et al.Pageof 20