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Journal Article
Traffic, ISSN 1398-9219, 05/2019, Volume 20, Issue 5, pp. 325 - 345
TRAPPC11 has been implicated in membrane traffic and lipid‐linked oligosaccharide synthesis, and mutations in TRAPPC11 result in neuromuscular and... 
ATG2 | autophagy | WIPI4 | TRAPP | TRAPPC12 | TRAPPC11 | isolation membrane | TRAPPC8 | LC3 | COMPLEX | FUKUTIN-RELATED PROTEIN | MUSCULAR-DYSTROPHY | GOLGI | CELL BIOLOGY | PHOSPHATIDYLINOSITOL 3-PHOSPHATE | DISORDER | ENDOPLASMIC-RETICULUM | MUTATIONS | ATG9 | TRAPPIII | Proteins | Fluorescence | Analysis | Membranes | Starvation | Phenotypes | Biotinylation | Fibroblasts | Membrane trafficking | Oligosaccharides | Mutation | Autophagy | Phagocytosis
Journal Article
Journal of Medical Genetics, ISSN 0022-2593, 11/1971, Volume 55, Issue 11, p. 753
BackgroundThe combination of febrile illness-induced encephalopathy and rhabdomyolysis has thus far only been described in disorders that affect cellular... 
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 07/2013, Volume 93, Issue 1, pp. 181 - 190
Myopathies are a clinically and etiologically heterogeneous group of disorders that can range from limb girdle muscular dystrophy (LGMD) to syndromic forms... 
HUTTERITE POPULATION | COMPLEX | TRANSPORT | MUTANTS | DANON-DISEASE | GENE | GENETICS & HEREDITY | COMPONENTS | LINKAGE ANALYSIS | GOLGI | IDENTIFICATION | Sequence Deletion | Vesicular Transport Proteins - metabolism | Humans | Endoplasmic Reticulum - metabolism | Male | Multiprotein Complexes - genetics | Golgi Apparatus - pathology | Syria | Intellectual Disability - genetics | Exome | Young Adult | Endoplasmic Reticulum - pathology | Multiprotein Complexes - metabolism | Lysosomes - metabolism | Muscular Dystrophies, Limb-Girdle - genetics | Adult | Female | Ataxia - genetics | Muscular Dystrophies, Limb-Girdle - pathology | Lysosome-Associated Membrane Glycoproteins - metabolism | RNA Splice Sites | Creatine Kinase - blood | Endoplasmic Reticulum - genetics | Movement Disorders - pathology | Vesicular Transport Proteins - genetics | Chromosome Mapping | Muscular Diseases - pathology | Protein Transport | Homozygote | Pedigree | Adolescent | Lysosome-Associated Membrane Glycoproteins - genetics | Protein Binding | Golgi Apparatus - metabolism | Consanguinity | Movement Disorders - genetics | Muscular Diseases - genetics | Lysosomal-Associated Membrane Protein 2 | Golgi Apparatus - genetics | Gene mutations | Physiological aspects | Child development deviations | Muscle diseases | Genetic aspects | Research | Developmental disabilities | Learning disabilities | Genomes | Glycoproteins | Mutation | Motor ability | Index Medicus | Report
Journal Article
PLoS Genetics, ISSN 1553-7390, 02/2016, Volume 12, Issue 2
  Rho family GTPases act as molecular switches regulating actin cytoskeleton dynamics. Attenuation of their signaling capacity is provided by GTPase-activating... 
Proteins | Morphogenesis | Animals | Cysts | Mutagenesis | Polymerization | Fibroblasts | Cytoskeleton | Mutation | Kidney diseases | Cell adhesion & migration | Defects
Journal Article
PLoS Genetics, ISSN 1553-7390, 02/2016, Volume 12, Issue 2, pp. e1005785 - e1005785
Journal Article
PLoS ONE, ISSN 1932-6203, 2010, Volume 5, Issue 4, pp. e10171 - e10171
Background: Homeodomain interacting protein kinase 2 (HIPK2) is an evolutionary conserved serine/threonine whose activity is fundamental in maintaining... 
DISEASE PATIENTS | APOPTOSIS | PHOSPHORYLATION | MULTIDISCIPLINARY SCIENCES | DOXORUBICIN | HYPOXIC RESPONSE | PRECURSOR PROTEIN | CONFORMATION | SECRETION | FIBROBLASTS | HIPK2 | Carrier Proteins - physiology | Promoter Regions, Genetic | Cell Survival | Protein-Serine-Threonine Kinases - physiology | Humans | Cells, Cultured | DNA - metabolism | Protein Folding | Alzheimer Disease - pathology | Carrier Proteins - metabolism | Protein Binding | Tumor Suppressor Protein p53 - chemistry | Amyloid beta-Protein Precursor | Protein-Serine-Threonine Kinases - metabolism | Advertising executives | Chromatin | Analysis | Amyloid beta-protein | Research | Tumor proteins | DNA-ligand interactions | Protein kinases | Alzheimer's disease | Metallothionein | Neurosciences | Phosphorylation | Immunoprecipitation | Peptides | Laboratories | Pathogenesis | p53 Protein | DNA damage | Oncology | Biology | Kinases | Tissues | HIPK2 protein | Recruitment | Homeobox | Proteins | Protein folding | Evolutionary conservation | Rodents | Cell cycle | Fibroblasts | Physiology | Deoxyribonucleic acid--DNA | Binding | Dopamine | Cell survival | Threonine | Neurodegenerative diseases | Neurons | Pharmacology | Gene expression | Patients | Survival | Promoters | Zinc | Amyloid precursor protein | Hypotheses | Molecular modelling | β-Amyloid | Hypoxia | Protein-serine/threonine kinase | Mutation | Alzheimers disease | Cancer | Apoptosis | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
ROMANIAN JOURNAL OF PHYSICS, ISSN 1221-146X, 2014, Volume 59, Issue 9-10, pp. 904 - 911
The properties and behavior of Rn-222 and Rn-220 in the free atmosphere are presented. The emanation and transport in materials with the principal mechanism... 
radon | DIFFUSION-COEFFICIENT | emanation power | PARTICLES | PHYSICS, MULTIDISCIPLINARY | decay products | aerosols | EMANATION | RN-222 | surface deposition | Aerosols | Emanation power | Radon | Surface deposition | Decay products
Journal Article
Applied Radiation and Isotopes, ISSN 0969-8043, 09/2009, Volume 67, Issue 9, pp. 1686 - 1690
The quality of the results of gamma spectrometry measurement depends directly on the accuracy of the detection efficiency in the specific measurement... 
Coincidence summing | Gamma-ray spectrometry | Efficiency transfer | DETECTORS | NUCLEAR SCIENCE & TECHNOLOGY | COINCIDENCE SUMMING CORRECTIONS | GESPECOR | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | CHEMISTRY, INORGANIC & NUCLEAR | Usage | Software
Journal Article
Alzheimer's & Dementia: The Journal of the Alzheimer's Association, ISSN 1552-5260, 2009, Volume 5, Issue 4, pp. P356 - P356
Journal Article
Romanian Reports in Physics, ISSN 1221-1451, 2012, Volume 64, Issue 2, pp. 387 - 398
The paper describes the methodology used for the radiological characterization of the VVR-S reactor block that is the major contributor to the overall... 
Decommissioning | Neutron activation | Radiological characterization | neutron activation | decommissioning | GRAPHITE | radiological characterization | PHYSICS, MULTIDISCIPLINARY | CONCRETE
Journal Article
Romanian Reports in Physics, ISSN 1221-1451, 2010, Volume 62, Issue 1, pp. 57 - 64
The quality of the results of gamma spectrometry measurement depends directly on the accuracy of the detection efficiency in the specific measurement... 
Coincidence summing | Gamma-ray spectrometry | Efficiency calibration | coincidence summing | GESPECOR SOFTWARE | PHYSICS, MULTIDISCIPLINARY | COINCIDENCE SUMMING CORRECTIONS | efficiency calibration | SAMPLES
Journal Article
Romanian Reports in Physics, ISSN 1221-1451, 2009, Volume 61, Issue 2, pp. 203 - 213
The quality of the results of gamma spectrometry measurement depends directly on the accuracy of the detection efficiency in the specific measurement... 
Detector characterization | Gamma-ray spectrometry | Efficiency calibration | gamma-ray spectrometry | DETECTORS | PHYSICS, MULTIDISCIPLINARY | COINCIDENCE SUMMING CORRECTIONS | GESPECOR | detector characterization | efficiency calibration
Journal Article
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