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Muscle & Nerve, ISSN 0148-639X, 01/2014, Volume 49, Issue 1, pp. 131 - 133
Journal Article
Journal Article
American Journal of Human Biology, ISSN 1042-0533, 03/2017, Volume 29, Issue 2, p. e22930
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 01/2015, Volume 73, Issue 1, p. 65
Journal Article
ARQUIVOS DE NEURO-PSIQUIATRIA, ISSN 0004-282X, 01/2015, Volume 73, Issue 1, pp. 65 - 65
A 46-year-old female presented progressive hand tremor at age of 8, associated to cognitive and motor deterioration. She developed incapacitating head tremor... 
PSYCHIATRY | NEUROSCIENCES | Leukoencephalopathies - complications | Magnetic Resonance Imaging | Female | Primary Ovarian Insufficiency - etiology | Humans | Middle Aged | Index Medicus
Journal Article
Journal of Neurology, ISSN 0340-5354, 04/2016, Volume 263, Issue 4, pp. 821 - 822
To access, purchase, authenticate, or subscribe to the full-text of this article, please visit this link: http://dx.doi.org/10.1007/s00415-016-8065-8 
CLINICAL NEUROLOGY | Glial Fibrillary Acidic Protein - genetics | Humans | Brain - pathology | Adult | Female | Mutation | Alexander Disease - genetics | Alexander Disease - pathology
Journal Article
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 04/2018, Volume 76, Issue 4, pp. 283 - 283
Journal Article
Brain, ISSN 0006-8950, 08/2018, Volume 141, Issue 8, pp. 2289 - 2298
Gurgel-Giannetti et al. describe a novel syndrome characterised by optic atrophy, sensory-motor neuropathy, recurrent rhabdomyolysis and reversible... 
Nerve | FDX2 | Brain | Muscle | Optic atrophy | FE-S CLUSTER | I DEFICIENCY | NUBPL | brain | NEUROSCIENCES | MITOCHONDRIAL MYOPATHY | CLINICAL NEUROLOGY | optic atrophy | SULFUR PROTEIN BIOGENESIS | DISEASES | GENE | ROLES | BIOSYNTHESIS | nerve | muscle | SPECTRUM | Index Medicus | Abridged Index Medicus | Original | Neurosciences | gene | roles | diseases | mitochondrial myopathy | nubpl | deficiency | spectrum | fe-s cluster | biosynthesis | sulfur protein biogenesis | Neurovetenskaper
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 1678-4227, 04/2018, Volume 76, Issue 4, pp. 283 - 283
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 1678-4227, 01/2015, Volume 73, Issue 1, pp. 65 - 65
Journal Article
Stem Cell Reviews and Reports, ISSN 1550-8943, 10/2017, Volume 13, Issue 5, pp. 686 - 698
Amyotrophic Lateral Sclerosis (ALS) is one of the most common adult-onset motor neuron disease causing a progressive, rapid and irreversible degeneration of... 
Life Sciences | Stem Cells | Biomedical Engineering | Motor neurons | Regenerative Medicine/Tissue Engineering | IPSCs | Pericytes | Mesenchymal stromal cells | Amyotrophic lateral sclerosis | SOD1 mice | Cell Biology | MOTOR-NEURONS | MEDICINE, RESEARCH & EXPERIMENTAL | REGRESSION-MODELS | SPINAL-CORD | AMYOTROPHIC-LATERAL-SCLEROSIS | MESENCHYMAL STEM-CELLS | CELL & TISSUE ENGINEERING | CELL BIOLOGY | SKELETAL-MUSCLE | INFLAMMATION | MOUSE MODEL | DISEASE | CENTRAL-NERVOUS-SYSTEM | Spinal Cord - metabolism | Humans | Pericytes - cytology | Brain Stem - metabolism | Cerebral Cortex - pathology | Adipose Tissue - cytology | Male | Superoxide Dismutase-1 - deficiency | Cerebral Cortex - metabolism | Motor Neurons - pathology | Adipose Tissue - metabolism | Mesenchymal Stromal Cells - cytology | Brain Stem - pathology | Spinal Cord - pathology | Pericytes - transplantation | Female | Disease Models, Animal | Induced Pluripotent Stem Cells - metabolism | Induced Pluripotent Stem Cells - pathology | Gene Expression | Amyotrophic Lateral Sclerosis - therapy | Catalase - genetics | Amyotrophic Lateral Sclerosis - genetics | Pericytes - metabolism | Mesenchymal Stromal Cells - metabolism | RNA-Binding Protein FUS - genetics | Mice, Transgenic | RNA-Binding Protein FUS - metabolism | Amyotrophic Lateral Sclerosis - mortality | Blood-Brain Barrier - metabolism | Catalase - metabolism | Motor Neurons - metabolism | Blood-Brain Barrier - pathology | Amyotrophic Lateral Sclerosis - pathology | Animals | Superoxide Dismutase-1 - genetics | Survival Analysis | Mice | Mutation | Antioxidants | Enzymes | Nervous system diseases | Neurons | Analysis | Stem cells | Transplantation | Gene expression | Adipose tissues | Spinal cord | Animal models | Adipose tissue | Mesenchyme | Brain stem | Central nervous system | Medical services | Motor neuron disease | Clinical trials | Superoxide dismutase | In vitro testing | Cortex (motor) | Males | Sclerosis | FUS protein | Blood-brain barrier | Neurodegeneration | Degeneration | Medical research | Neurodegenerative diseases | Patients | Survival | Neurological diseases | Stromal cells | Females | Inhibitory postsynaptic potentials | Index Medicus
Journal Article
Neurology. Genetics, ISSN 2376-7839, 02/2019, Volume 5, Issue 1, pp. e306 - e306
Mutations in PUS3, which encodes a highly conserved enzyme responsible for posttranscriptional modification of tRNA, have been shown in a single family to be a... 
CLINICAL NEUROLOGY | GENETICS & HEREDITY
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 1678-4227, 02/2010, Volume 68, Issue 1, pp. 03 - 06
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically... 
PSYCHIATRY | NEUROSCIENCES
Journal Article
Arquivos de Neuro-Psiquiatria, ISSN 0004-282X, 02/2010, Volume 68, Issue 1, pp. 3 - 6
Spastic paraplegia, optic atrophy, and neuropathy (SPOAN) is an autosomal recessive complicated form of hereditary spastic paraplegia, which is clinically... 
optic atrophy | escalas | hereditary spastic paraplegia | scales | performance psicomotora | atrofia óptica | peripheral nervous system disorder | paraplegia espástica hereditária | psychomotor performance | doença do sistema nervoso periférico
Journal Article
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