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The New England Journal of Medicine, ISSN 0028-4793, 07/2013, Volume 369, Issue 3, pp. 233 - 244
Journal Article
by Namavar, Yasmin and Barth, Peter G and Kasher, Paul R and van Ruissen, Fred and Brockmann, Knut and Bernert, Günther and Writzl, Karin and Ventura, Karen and Cheng, Edith Y and Ferriero, Donna M and Basel-Vanagaite, Lina and Eggens, Veerle R. C and Krägeloh-Mann, Ingeborg and de Meirleir, Linda and King, Mary and Graham, John M and von Moers, Arpad and Knoers, Nine and Sztriha, Laszlo and Korinthenberg, Rudolf and Dobyns, William B and Baas, Frank and Poll-The, Bwee Tien and van der Aa, Nathalie and Arts, Willem F. M and Ades, Lesley C and Bahi-Buisson, Nadia and Battini, Roberta and Bodamer, Olaf and Boltshauser, Eugen and Boycott, Kym and Brueton, Louise and Brussel, Wim and Chandler, K. E and Cowan, Frances M and Crow, Yanick and Debus, Otfried and Demir, Ercan and Hastanesi, Gazi and Eason, Jacqueline and Ferrie, Colin D and Fisher, Richard B and Foulds, Nicola and Freeman, Jeremy L and Gooskens, Rob and Haeussler, Martin and Hageman, Gerard and Hammersen, Gerhard and Horn, Denise and Isidor, Bertrand and van der Knaap, Marjo S and Kress, Wolfram and Kroisel, Peter M and Kyllerman, Mårten and Lachmeijer, A. M. A and Lunsing, Roelineke J and McGillivray, George and Möllmann, Susanne and Muntoni, Francesco and Nemeth, Anea H and Neufeld-Kaiser, Whitney and van Nieuwenhuizen, Onno and Ouvrier, Robert and Pálmafy, Beatrix and Peeters, E. A. J and Phillips, Joanna J and Price, Susan and Rankin, Julia and Régal, Luc and de Rijk-van Andel, J. F and Roelens, Filip and Rutledge, Joe C and Ryan, Monique M and Seidl, Rainer and Sellerer, Nina C and Shannon, Nora L and Sival, Deborah A and Snoeck, I. N and Straussberg, Rachel and Tijssen, Marina A. J and Verloo, Patrick and de Vries, L. S and Wargowski, David and Williams, Anew N and Windpassinger, Christian and PCH Consortium and Sahlgrenska akademin and Institute of Clinical Sciences, Section for the Health of Women and Children, Department of Pediatrics and Göteborgs universitet and Gothenburg University and Institutionen för kliniska vetenskaper, sektionen för kvinnors och barns hälsa, Avdelningen för pediatrik and Sahlgrenska Academy
Brain, ISSN 0006-8950, 2011, Volume 134, Issue Part 1, pp. 143 - 156
Journal Article
Nature Genetics, ISSN 1061-4036, 06/2012, Volume 44, Issue 6, pp. 704 - 708
Journal Article
Journal of Inherited Metabolic Disease, ISSN 0141-8955, 1/2013, Volume 36, Issue 1, pp. 43 - 53
Recessive mutations in the mitochondrial arginyl-transfer RNA synthetase (RARS2) gene have been associated with early onset encephalopathy with signs of... 
Human Genetics | Biochemistry, general | Pediatrics | Internal Medicine | Medicine & Public Health | Metabolic Diseases | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | PROGRESSIVE CEREBELLOCEREBRAL ATROPHY | MANAGEMENT | GENE | TRANSFER-RNA-SYNTHETASES | ENDOCRINOLOGY & METABOLISM | GENETICS & HEREDITY | DISORDERS | MITOCHONDRIAL DISEASE | CONTINUOUS SPECTROPHOTOMETRIC ASSAY | Seizures - blood | Microcephaly - genetics | Seizures - genetics | Follow-Up Studies | Intellectual Disability - cerebrospinal fluid | Lactic Acid - blood | Humans | Child, Preschool | Magnetic Resonance Imaging - methods | Infant | Male | Cerebellum - enzymology | Olivopontocerebellar Atrophies - metabolism | Spasms, Infantile - genetics | Cerebellum - physiology | Intellectual Disability - genetics | Intellectual Disability - blood | Arginine-tRNA Ligase - genetics | Psychomotor Disorders - genetics | Microcephaly - blood | Mitochondria - genetics | Lennox Gastaut Syndrome | Microcephaly - cerebrospinal fluid | Female | Spasms, Infantile - blood | Infant, Newborn | Neuroimaging - methods | Olivopontocerebellar Atrophies - enzymology | Cerebellum - pathology | Olivopontocerebellar Atrophies - diagnosis | Lactic Acid - cerebrospinal fluid | Olivopontocerebellar Atrophies - genetics | Seizures - cerebrospinal fluid | Mutation | Spasms, Infantile - cerebrospinal fluid | Lactates | Medical research | Nervous system diseases | Neurosciences | Ligases | Genes | Medical genetics | Medicine, Experimental | Development and progression | Genetic aspects | Seizures (Medicine) | Transfer RNA | Cerebellum | Neuroimaging | Neonates | Phosphorylation | Aminoacylation | Epilepsy | Cerebrospinal fluid | Atrophy | Mitochondria | Arginine | Encephalopathy | Fibroblasts | Complementation | Seizures | Hypoplasia | Enzymes | Medical imaging | tRNA Arg | Cortex | Ribonucleic acid--RNA | Microencephaly | Magnetic resonance imaging | Oxidative phosphorylation | Biopsy | Lactic acid | Electron transport | Index Medicus
Journal Article
Journal Article
Neurology, ISSN 0028-3878, 2013, Volume 80, Issue 5, pp. 438 - 446
Journal Article
Orphanet journal of rare diseases, ISSN 1750-1172, 2014, Volume 9, Issue 1, pp. 23 - 23
Journal Article
Neuron, ISSN 0896-6273, 2005, Volume 45, Issue 6, pp. 847 - 859
Transgenic (Tg) mice overexpressing human wild-type α-synuclein in oligodendrocytes under the control of the 2,′ 3′-cyclic nucleotide 3′-phosphodiesterase... 
NEUROFILAMENT PHOSPHORYLATION | OLIVOPONTOCEREBELLAR ATROPHY | HUMAN BRAIN | PROTEIN | PERIPHERAL NERVOUS-SYSTEM | ALZHEIMERS-DISEASE | CYTOPLASMIC INCLUSIONS | NEUROSCIENCES | LEWY BODIES | NEURODEGENERATIVE DISEASES | PARKINSONS-DISEASE | Neurons - pathology | Oligodendroglia - metabolism | Central Nervous System - metabolism | Presynaptic Terminals - pathology | Neuroglia - pathology | Humans | Central Nervous System - pathology | Phagocytosis - genetics | Presynaptic Terminals - ultrastructure | Promoter Regions, Genetic - genetics | Oligodendroglia - ultrastructure | Myelin Sheath - metabolism | Axons - ultrastructure | Multiple System Atrophy - metabolism | Inclusion Bodies - metabolism | Disease Models, Animal | Wallerian Degeneration - genetics | Microscopy, Electron, Transmission | Myelin Sheath - pathology | Wallerian Degeneration - metabolism | Wallerian Degeneration - physiopathology | Axons - metabolism | Mice, Transgenic | Phosphoric Diester Hydrolases - genetics | Multiple System Atrophy - genetics | Synucleins | Nerve Tissue Proteins - genetics | Nerve Tissue Proteins - metabolism | Oligodendroglia - pathology | Inclusion Bodies - genetics | 2',3'-Cyclic Nucleotide 3'-Phosphodiesterase | Animals | Axons - pathology | Inclusion Bodies - pathology | Presynaptic Terminals - metabolism | Mice | Myelin Sheath - ultrastructure | Central Nervous System - physiopathology | Multiple System Atrophy - physiopathology | alpha-Synuclein | Index Medicus
Journal Article
Journal Article
Journal Article
RNA, ISSN 1355-8382, 2017, Volume 23, Issue 4, pp. 466 - 472
The RNA exosome is a conserved multiprotein complex that achieves a large number of processive and degradative functions in eukaryotic cells. Recently,... 
Pontocerebellar hypoplasia | Ribosomal RNA processing | EXOSC3 | Exosome | Rrp40 | COMPLEX | YEAST EXOSOME | pontocerebellar hypoplasia | EXOSC3 MUTATIONS | BIOCHEMISTRY & MOLECULAR BIOLOGY | NUCLEAR EXOSOME | TRANSCRIPTS | ribosomal RNA processing | PATHWAY | PONTOCEREBELLAR HYPOPLASIA TYPE-1 | DEGRADATION | exosome | PRECURSORS | RNA-Binding Proteins - genetics | Saccharomyces cerevisiae - genetics | Humans | Olivopontocerebellar Atrophies - metabolism | RNA, Ribosomal - genetics | Saccharomyces cerevisiae - metabolism | Conserved Sequence | Exosome Multienzyme Ribonuclease Complex - metabolism | RNA Precursors - metabolism | Protein Interaction Domains and Motifs | RNA, Fungal - genetics | Exosome Multienzyme Ribonuclease Complex - genetics | Binding Sites | Gene Expression Regulation, Fungal | Amino Acid Sequence | Protein Conformation, alpha-Helical | Olivopontocerebellar Atrophies - pathology | RNA Processing, Post-Transcriptional | RNA, Ribosomal - metabolism | RNA Precursors - genetics | Saccharomyces cerevisiae Proteins - genetics | RNA, Fungal - metabolism | Sequence Homology, Amino Acid | Sequence Alignment | Protein Conformation, beta-Strand | Olivopontocerebellar Atrophies - genetics | Saccharomyces cerevisiae Proteins - metabolism | Protein Binding | Mutation | RNA-Binding Proteins - metabolism | Amino Acid Substitution | Index Medicus | Report
Journal Article
Cell, ISSN 0092-8674, 08/2013, Volume 154, Issue 3, pp. 505 - 517
Journal Article