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Nature communications, ISSN 2041-1723, 12/2019, Volume 10, Issue 1, pp. 3094 - 16
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 07/2019, Volume 90, Issue 7, pp. 838 - 838
Journal Article
Journal of Neurology, Neurosurgery & Psychiatry, ISSN 0022-3050, 11/2018, Volume 89, Issue 11, pp. 1230 - 1230
Structurally, it comprises three globular domains, an N-terminal and a C-terminal BRCT domain which interact with DNA polymerase and DNA ligase 3α,... 
neuropathy | cerebellar ataxia | cerebellar degeneration | genetics | neurogenetics | SURGERY | REPAIR | PSYCHIATRY | CLINICAL NEUROLOGY | Spinal cord | Gait | Peripheral neuropathy | Patients | DNA repair | Atrophy | Genotype & phenotype | Brain research | Infertility | Ataxia | Mutation | Chromosomes | Deoxyribonucleic acid--DNA | 1506 | PostScript
Journal Article
Journal Article
Annals of Neurology, ISSN 0364-5134, 08/2019, Volume 86, Issue 2, pp. 310 - 315
Journal Article
JAMA Neurology, ISSN 2168-6149, 12/2015, Volume 72, Issue 12, pp. 1531 - 1533
Journal Article
PLoS ONE, ISSN 1932-6203, 04/2014, Volume 9, Issue 4, pp. e93983 - e93983
..., IRCCS Fondazione Santa Lucia, Rome, Italy Enrico Bugiardini Affiliation: Department of Neurology, University of Milan, IRCCS-Policlinico San Donato, Milan, Italy... 
SKELETAL-MUSCLE | MESSENGER-RNA | ALPHA-SUBUNIT | MULTIDISCIPLINARY SCIENCES | GENE-EXPRESSION | NUCLEAR FOCI | RECEPTOR | DM1 | CA2+/CALMODULIN-DEPENDENT PROTEIN-KINASE | REPEATS | MOUSE MODELS | RNA-Binding Proteins - genetics | Alternative Splicing | Cell Survival | Exons | Humans | Middle Aged | Computational Biology | Gene Expression Regulation | Male | Muscle, Skeletal - metabolism | NFI Transcription Factors - genetics | tau Proteins - genetics | Biopsy | Adaptor Proteins, Signal Transducing - genetics | Polymerase Chain Reaction | Myotonic Dystrophy - genetics | Female | LIM Domain Proteins - genetics | Fetal Proteins - genetics | Genome, Human | Nuclear Proteins - genetics | Calcium Signaling | RNA - metabolism | Care and treatment | Myotonic dystrophy | RNA | Analysis | Muscles | Physiological aspects | Diagnosis | Risk factors | Alternative splicing | Deregulation | Calcium | Laboratories | Pathogenesis | Genes | Genomics | Calcium metabolism | Genomes | Kinases | Calcium signalling | Proteins | Histopathology | Pathways | Rodents | Cardiology | Bioinformatics | Cell survival | Splicing | Endocrine system | Metabolism | Gene expression | Ribonucleic acid--RNA | Patients | Muscle contraction | Skeletal muscle | Studies | Molecular modelling | Dystrophy | Aberration | Molecular biology | Index Medicus | Ribonucleic acid
Journal Article
Journal Article
Neuromuscular Disorders, ISSN 0960-8966, 2014, Volume 24, Issue 6, pp. 509 - 515
Abstract Myotonic dystrophy type 1 (DM1) lacks non-invasive and easy to measure biomarkers, still largely relying on semi-quantitative tests for diagnostic and... 
Neurology | Plasma | microRNA | Biomarker | Myotonic dystrophy | Patients | MicroRNA | OPERATING CHARACTERISTIC ANALYSIS | DIAGNOSIS | MRI | SERUM | CANCER | NEUROSCIENCES | CLINICAL NEUROLOGY | SKELETAL-MUSCLE | DISEASE | CURVE | MIRNAS | Myotonic Dystrophy - blood | Humans | Middle Aged | Myotonic Dystrophy - genetics | Adult | Female | Male | ROC Curve | Aged | MicroRNAs - blood | Biomarkers - blood | Muscles | Deregulation | Biological markers | Gene expression
Journal Article
Journal of Sleep Research, ISSN 0962-1105, 12/2008, Volume 17, Issue 4, pp. 458 - 463
Journal Article