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Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 3/2012, Volume 109, Issue 13, pp. 5074 - 5079
Journal Article
Nature Medicine, ISSN 1078-8956, 03/2018, Volume 24, Issue 3, pp. 313 - 325
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the... 
MEDICINE, RESEARCH & EXPERIMENTAL | STEM-CELLS | REPEAT EXPANSION | BIOCHEMISTRY & MOLECULAR BIOLOGY | FRONTOTEMPORAL DEMENTIA | ALS | TRAFFICKING | AMYOTROPHIC-LATERAL-SCLEROSIS | CELL BIOLOGY | IN-VIVO | HUMAN FIBROBLASTS | HEXANUCLEOTIDE REPEAT | GGGGCC REPEAT | C9orf72 Protein - genetics | Frontotemporal Dementia - genetics | Haploinsufficiency - genetics | rab5 GTP-Binding Proteins - genetics | Introns - genetics | Endosomes - genetics | DNA Repeat Expansion - genetics | Gene Expression Regulation - genetics | Amyotrophic Lateral Sclerosis - genetics | Humans | Nerve Degeneration - physiopathology | Nerve Degeneration - genetics | Motor Neurons - pathology | Motor Neurons - metabolism | Amyotrophic Lateral Sclerosis - pathology | Animals | Mutation | Disease Models, Animal | Frontotemporal Dementia - pathology | Care and treatment | Development and progression | Amyotrophic lateral sclerosis | Genetic aspects | Open reading frames | Gene expression | Frontotemporal dementia | Health aspects | Motor neurons | Animal models | Cell survival | Neurons | Trafficking | Motor ability | Glutamic acid receptors | Neuromodulation | Modulators | Sclerosis | Haploinsufficiency | Proteins | Receptors | Neurotoxicity | Neurodegeneration | Rodents | Excitotoxicity | Dementia disorders | Evolution | Expansion | Endosomes | Index Medicus
Journal Article
Neuron, ISSN 0896-6273, 12/2014, Volume 84, Issue 6, pp. 1213 - 1225
Expanded GGGGCC (G4C2) nucleotide repeats within the C9ORF72 gene are the most common genetic mutation associated with both amyotrophic lateral sclerosis (ALS)... 
Journal Article
Journal Article
Neuron, ISSN 0896-6273, 12/2014, Volume 84, Issue 6, pp. 1213 - 1225
Journal Article
Glia, ISSN 0894-1491, 08/2016, Volume 64, Issue 8, pp. 1298 - 1313
The efficacy of drugs targeting the CNS is influenced by their limited brain access, which can lead to complete pharmacoresistance. Recently a tissue‐specific... 
mutant SOD1 | endothelial cells | P‐glycoprotein | blood–brain barrier | amyotrophic lateral sclerosis | P-glycoprotein | Amyotrophic lateral sclerosis | Blood-brain barrier | Mutant SOD1 | Endothelial cells | blood-brain barrier | OXIDATIVE STRESS | MODEL | NEUROSCIENCES | SPORADIC ALS | DRUG EFFLUX TRANSPORTERS | PLURIPOTENT STEM-CELLS | IN-VITRO | MOTOR-NEURON DEGENERATION | DISEASE | MICE | EXPRESSION | Up-Regulation | Spinal Cord - metabolism | Capillaries - pathology | Coculture Techniques | Humans | ATP-Binding Cassette, Sub-Family B, Member 1 - metabolism | Astrocytes - pathology | NF-kappa B - metabolism | Spinal Cord - pathology | Superoxide Dismutase-1 - metabolism | Capillaries - metabolism | Disease Models, Animal | Induced Pluripotent Stem Cells - metabolism | Induced Pluripotent Stem Cells - pathology | Cell Line | Endothelial Cells - metabolism | Mice, Transgenic | RNA-Binding Protein FUS - metabolism | Blood-Brain Barrier - metabolism | Blood-Brain Barrier - pathology | Amyotrophic Lateral Sclerosis - pathology | Animals | Amyotrophic Lateral Sclerosis - metabolism | Superoxide Dismutase-1 - genetics | ATP Binding Cassette Transporter, Sub-Family B - metabolism | Astrocytes - metabolism | Drug resistance in microorganisms | Nervous system diseases | Gene mutations | Neurons | Analysis | Superoxide | Endothelium | Glycoproteins | Index Medicus
Journal Article