Neurogenetics

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

Genetics / Cognitive Science / Neurology / Brain Imaging / Dementia / Neurogenetics / Family history / Italy / Humans / Italian / Mutation / Female / Male / Frequency / Pedigree / Italiano / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Genetic Variability / Neurosciences / Case Control Studies / Neurogenetics / Family history / Italy / Humans / Italian / Mutation / Female / Male / Frequency / Pedigree / Italiano / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Genetic Variability / Neurosciences / Case Control Studies

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

Genetics / Cognitive Science / Neurology / Brain Imaging / Dementia / Neurogenetics / Family history / Italy / Humans / Italian / Mutation / Female / Male / Frequency / Pedigree / Italiano / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Genetic Variability / Neurosciences / Case Control Studies / Neurogenetics / Family history / Italy / Humans / Italian / Mutation / Female / Male / Frequency / Pedigree / Italiano / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Genetic Variability / Neurosciences / Case Control Studies

A nullimorphic ERLIN2 mutation defines a complicated hereditary spastic paraplegia locus (SPG18)

Genetics / Cognitive Science / Membrane Proteins / Neurogenetics / Intellectual Disability / Humans / Child / Mutation / Female / Male / Pedigree / Corticospinal Tract / Hereditary spastic paraplegia / Autosomal Recessive / Lower Extremity / Neurosciences / Humans / Child / Mutation / Female / Male / Pedigree / Corticospinal Tract / Hereditary spastic paraplegia / Autosomal Recessive / Lower Extremity / Neurosciences

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

Genetics / Cognitive Science / Brain Imaging / Dementia / Neurogenetics / Family history / Italy / Humans / Mutation / Female / Male / Pedigree / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Neurosciences / Case Control Studies / Family history / Italy / Humans / Mutation / Female / Male / Pedigree / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Neurosciences / Case Control Studies

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

Genetics / Cognitive Science / Brain Imaging / Dementia / Neurogenetics / Family history / Italy / Humans / Mutation / Female / Male / Pedigree / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Neurosciences / Case Control Studies / Family history / Italy / Humans / Mutation / Female / Male / Pedigree / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Neurosciences / Case Control Studies

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

Genetics / Cognitive Science / Brain Imaging / Dementia / Neurogenetics / Family history / Italy / Humans / Mutation / Female / Male / Pedigree / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Neurosciences / Case Control Studies / Family history / Italy / Humans / Mutation / Female / Male / Pedigree / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Neurosciences / Case Control Studies

Frontotemporal dementia in a large Swedish family is caused by a progranulin null mutation

Genetics / Cognitive Science / Dementia / Neurogenetics / Sequence Analysis / Sweden / Cell line / Humans / Mutation / Female / Male / Spontaneous speech / Pedigree / Middle Aged / Frontotemporal Dementia / Degeneration / Base Sequence / Clinical Presentation / Neurosciences / Age of Onset / Age at Onset / Sweden / Cell line / Humans / Mutation / Female / Male / Spontaneous speech / Pedigree / Middle Aged / Frontotemporal Dementia / Degeneration / Base Sequence / Clinical Presentation / Neurosciences / Age of Onset / Age at Onset

Succinic semialdehyde dehydrogenase deficiency: an inborn error of gamma-aminobutyric acid metabolism

Genetics / Cognitive Science / Pediatrics / Transcranial Magnetic Stimulation / Neurogenetics / Intellectual Disability / Subthalamic Nucleus / DNA / Humans / Mutation / Female / Clinical Genetics / Inborn errors of metabolism / Male / Infant / Follow-up studies / Differential Diagnosis / Phenotype / Child Neurology / Clinical Sciences / Mouse Model / Genotype / Adult / Globus Pallidus / Sleep Disorder / Status Epilepticus / Base Sequence / NAD / Lymphocytes / Neurosciences / Gamma-Aminobutyric Acid / Ketogenic diet / Intellectual Disability / Subthalamic Nucleus / DNA / Humans / Mutation / Female / Clinical Genetics / Inborn errors of metabolism / Male / Infant / Follow-up studies / Differential Diagnosis / Phenotype / Child Neurology / Clinical Sciences / Mouse Model / Genotype / Adult / Globus Pallidus / Sleep Disorder / Status Epilepticus / Base Sequence / NAD / Lymphocytes / Neurosciences / Gamma-Aminobutyric Acid / Ketogenic diet

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient

Genetics / Cognitive Science / Neurogenetics / Mitochondrial DNA / Humans / Mutation / Female / Animals / Cytochrome c oxidase / Phenotype / Mitochondrial Genome / Enzyme / Adult / Enzyme activity / Protein Conformation / Neurosciences / Mutation / Female / Animals / Cytochrome c oxidase / Phenotype / Mitochondrial Genome / Enzyme / Adult / Enzyme activity / Protein Conformation / Neurosciences

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient

Genetics / Cognitive Science / Neurogenetics / Mitochondrial DNA / Humans / Mutation / Female / Animals / Cytochrome c oxidase / Phenotype / Mitochondrial Genome / Enzyme / Adult / Enzyme activity / Protein Conformation / Neurosciences / Mutation / Female / Animals / Cytochrome c oxidase / Phenotype / Mitochondrial Genome / Enzyme / Adult / Enzyme activity / Protein Conformation / Neurosciences

Progranulin genetic variations in frontotemporal lobar degeneration: evidence for low mutation frequency in an Italian clinical series

Genetics / Cognitive Science / Neurology / Brain Imaging / Dementia / Neurogenetics / Family history / Italy / Humans / Italian / Mutation / Female / Male / Frequency / Pedigree / Italiano / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Genetic Variability / Neurosciences / Case Control Studies / Neurogenetics / Family history / Italy / Humans / Italian / Mutation / Female / Male / Frequency / Pedigree / Italiano / Introns / Aged / Middle Aged / Genetic variation / Base Sequence / Genetic Variability / Neurosciences / Case Control Studies

Introducing a novel human mtDNA mutation into the Paracoccus denitrificans COX I gene explains functional deficits in a patient

Genetics / Cognitive Science / Neurogenetics / Mitochondrial DNA / Humans / Models / Mutation / Female / Animals / Bacteria / Cytochrome c oxidase / Gene / Phenotype / Mitochondrial Genome / Enzyme / Gen / Adult / Enzyme activity / Protein Conformation / Neurosciences / DNA mutational analysis / Models / Mutation / Female / Animals / Bacteria / Cytochrome c oxidase / Gene / Phenotype / Mitochondrial Genome / Enzyme / Gen / Adult / Enzyme activity / Protein Conformation / Neurosciences / DNA mutational analysis

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