Complex phenotype in an Italian family with a novel mutation in SPG3A(311 views visite) De Leva MF, Filla A, Criscuolo C, Tessa A, Pappata S, Quarantelli M, Bilo L, Peluso S, Antenora A, Longo DL, Santorelli FM, De Michele G
Keywords Parole chiave: Amyotrophic Lateral Sclerosis, Hereditary Spastic Paraplegias, Spg3a, Gene Product, Protein Spg3a, Unclassified Drug, Adult, Aged, Article, Case Report, Cerebellum Disease, Clinical Feature, Controlled Study, Family Study, Female, Genetic Association, Hereditary Motor Sensory Neuropathy, Human, Missense Mutation, Neuroimaging, Nucleotide Sequence, Phenotype, Priority Journal, Sequence Analysis, Atrophy, Cerebellar Diseases, Disease Progression, Dna Mutational Analysis, Frontal Lobe, Genetic Predisposition To Disease, Genetic Testing, Genotype, Gtp Phosphohydrolases, Magnetic Resonance Imaging, Molecular Sequence Data, Positron-Emission Tomography, Sequence Homology, Amino Acid,
Affiliations Affiliazioni: *** IBB - CNR ***
Department of Neurological Sciences, Federico II University, Via S. Pansini 5, Naples 80131, Italy National Research Council/Department of Biomorphological and Functional Sciences, Biostructure and Bioimaging Institute, Federico II University, Naples, Italy Molecular Medicine, IRCCS Bambino Gesù Hospital, Rome, Italy Department of IFM Chemistry and Molecular Imaging, University of Turin, Turin, Italy
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Complex phenotype in an Italian family with a novel mutation in SPG3A
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