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Annals of Neurology, ISSN 0364-5134, 01/2018, Volume 83, Issue 1, pp. 27 - 39
Journal Article
Blood, ISSN 0006-4971, 12/2014, Volume 124, Issue 21, pp. 4038 - 4038
Abstract Sickle cell anemia (SCD) is a hereditary blood disorder in which red blood cells (RBC) become sickle-shaped and block blood vessels, leading to... 
Journal Article
Journal Article
Blood, ISSN 0006-4971, 11/2013, Volume 122, Issue 21, pp. 1022 - 1022
Abstract Sickle cell anemia (SCD) is a hereditary blood disorder in which red blood cells (RBC) become sickle-shaped and block blood vessels, leading to... 
Journal Article
Nature Neuroscience, ISSN 1097-6256, 11/2012, Volume 15, Issue 11, pp. 1488 - 1497
FUS/TLS (fused in sarcoma/translocated in liposarcoma) and TDP-43 are integrally involved in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia.... 
NEURODEGENERATIVE DISEASE | GENE | AMYOTROPHIC-LATERAL-SCLEROSIS | FAMILY PROTEINS | FUS PATHOLOGY | MUTATIONS | FRONTOTEMPORAL LOBAR DEGENERATION | BINDING | NEUROSCIENCES | BRAIN | NASCENT TRANSCRIPTION | RNA, Small Interfering - genetics | Protein Binding - genetics | Oligonucleotide Array Sequence Analysis | Humans | tau Proteins - metabolism | Gene Expression Profiling | RNA, Messenger - metabolism | Kv Channel-Interacting Proteins - metabolism | Brain - metabolism | Frontotemporal Dementia - metabolism | RNA Splicing - genetics | Frontotemporal Dementia - genetics | RNA-Binding Protein FUS - deficiency | Amyotrophic Lateral Sclerosis - genetics | Cell Cycle Proteins - metabolism | Ubiquitin-Protein Ligases - metabolism | RNA-Binding Protein FUS - genetics | Mice, Knockout | Motor Neurons - metabolism | Amyotrophic Lateral Sclerosis - pathology | Shal Potassium Channels - metabolism | Brain - pathology | Mice | Neurofilament Proteins - metabolism | RNA, Small Interfering - metabolism | Immunoprecipitation | Spinal Cord - metabolism | DNA-Binding Proteins - deficiency | DNA-Binding Proteins - metabolism | tau Proteins - genetics | Cell Cycle Proteins - genetics | Female | RNA Precursors - metabolism | Excitatory Amino Acid Transporter 2 - genetics | Membrane Proteins - metabolism | Frontotemporal Dementia - pathology | Gene Expression Regulation - genetics | Mice, Inbred C57BL | RNA, Messenger - genetics | RNA Precursors - genetics | Protein Structure, Tertiary - genetics | RNA-Binding Protein FUS - metabolism | DNA-Binding Proteins - genetics | Excitatory Amino Acid Transporter 2 - metabolism | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Carrier Proteins - genetics | Animals | Carrier Proteins - metabolism | Histone-Lysine N-Methyltransferase - metabolism | Amyotrophic Lateral Sclerosis - metabolism | Neural Cell Adhesion Molecules - metabolism | Neural Stem Cells - metabolism | Cell Line, Transformed | Amyotrophic lateral sclerosis | Development and progression | Genetic aspects | Messenger RNA | Health aspects
Journal Article
Journal of Clinical Investigation, ISSN 0021-9738, 01/2018, Volume 128, Issue 1, pp. 359 - 368
Charcot-Marie-Tooth disease type 1A (CMT1A) is caused by duplication of peripheral myelin protein 22 (PMP22) and is the most common hereditary peripheral... 
PERIPHERAL-NERVE | MEDICINE, RESEARCH & EXPERIMENTAL | TRANSGENIC RAT MODEL | MYELIN | AXONAL LOSS | GENE | ASCORBIC-ACID TREATMENT | MOUSE MODEL | MICE | SCHWANN-CELLS | EXPRESSION | RNA | Gene expression | Charcot-Marie-Tooth disease | Analysis | Genes
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 09/2017, Volume 8, pp. 508 - 519
No treatments exist to slow or halt Parkinson’s disease (PD) progression; however, inhibition of leucine-rich repeat kinase 2 (LRRK2) activity represents one... 
Parkinson's disease | preformed fibrils | LRRK2 | α-synuclein | antisense oligonucleotides
Journal Article
Science Translational Medicine, ISSN 1946-6234, 10/2018, Volume 10, Issue 465, p. eaap8677
Spinocerebellar ataxia type 7 (SCA7) is an autosomal dominant neurodegenerative disorder characterized by cerebellar and retinal degeneration, and is caused by... 
CAG REPEAT | RETINAL DEGENERATION | SCA7 | MEDICINE, RESEARCH & EXPERIMENTAL | CONE-ROD DYSTROPHY | EXPANSION | PROGRESS | MACULAR DYSTROPHY | GROWTH-FACTOR | DOMINANT CEREBELLAR-ATAXIA | HUNTINGTONS-DISEASE | CELL BIOLOGY
Journal Article
Molecular Therapy - Nucleic Acids, ISSN 2162-2531, 09/2017, Volume 8, pp. 508 - 519
No treatments exist to slow or halt Parkinson's disease (PD) progression; however, inhibition of leucine-rich repeat kinase 2 (LRRK2) activity represents one... 
Parkinson's disease | preformed fibrils | LRRK2 | α-synuclein | antisense oligonucleotides | MEDICINE, RESEARCH & EXPERIMENTAL | INTERPLAY | FIBRILS | GENETICS | LEWY BODY | PHARMACOLOGY | RATS | NEURODEGENERATION | PHENOTYPES | MUTATIONS | PATHOLOGY
Journal Article
Korean Journal of Otorhinolaryngology-Head and Neck Surgery, ISSN 2092-5859, 08/2013, Volume 56, Issue 8, pp. 482 - 489
Journal Article
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