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Neurology. Genetics|May 21, 2026
Ataxia With Vitamin E Deficiency Syndrome and a Novel TTPA Variant: A Paired Case ReportGiacomo Baso, Francesca Magri, Monica Sciacco, et al.Neurology. Genetics|July 11, 2022
Expanding the Phenotypic Spectrum of Vocal Cord and Pharyngeal Weakness With Distal Myopathy due to the p.S85C MATR3 MutationArianna Manini, Daniele Velardo, Patrizia Ciscato, et al.Neurology. Genetics|December 20, 2021
Homozygous SOD1 Variation L144S Produces a Severe Form of Amyotrophic Lateral Sclerosis in an Iranian FamilyDelia Gagliardi, Minoo Ahmadinejad, Roberto Del Bo, et al.Journal of Personalized Medicine|January 21, 2023
MERRF Mutation A8344G in a Four-Generation Family without Central Nervous System Involvement: Clinical and Molecular CharacterizationMichela Ripolone, Simona Zanotti, Laura Napoli, et al.Journal of Neurology|October 26, 2013
Extended phenotype description and new molecular findings in late onset glycogen storage disease type II: a northern Italy population study and review of the literatureGauthier Remiche, Dario Ronchi, Francesca Magri, et al.Neurology Research International|June 20, 2013
Mitochondrial fusion proteins and human diseasesMichela Ranieri, Simona Brajkovic, Giulietta Riboldi, et al.BMC Neurology|August 4, 2014
A novel CCM1 mutation associated with multiple cerebral and vertebral cavernous malformationsSilvia Lanfranconi, Dario Ronchi, Naghia Ahmed, et al.Frontiers in Neurology|March 14, 2022
Case Report: Thymidine Kinase 2 (TK2) Deficiency: A Novel Mutation Associated With Childhood-Onset Mitochondrial Myopathy and Atypical ProgressionArianna Manini, Megi Meneri, Carmelo Rodolico, et al.Frontiers in Genetics|December 23, 2024
Case report: Multiple approach analysis in a case of clinically assessed myotonia congenitaSabrina Lucchiari, Francesco Fortunato, Giovanni Meola, et al.Scientific Reports|February 24, 2023
NOTCH2NLC GGC repeats are not expanded in Italian amyotrophic lateral sclerosis patientsArianna Manini, Delia Gagliardi, Megi Meneri, et al.Pageof 12