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Publication Date Publication Date
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ISSN 0022-3417, 2018
ABSTRACT The glycosphingolipidosis Gaucher disease, in which a range of neurological manifestations occur, results from a deficiency of acid... 
Brain | Animals | Psychosine | Humans | Neovascularization, Pathologic | Microvessels | Mice | Gaucher Disease | Disease Models, Animal
Journal Article
ISSN 2211-1247, 2016
Diseases caused by single-gene mutations can display substantial phenotypic variability, which may be due to genetic, environmental, or epigenetic modifiers.... 
Journal Article
ISSN 0022-2275, 2017
Drug-induced phospholipidosis (DIPL) is characterized by an increase in the phospholipid content of the cell and the accumulation of drugs and lipids inside... 
toxicology | storage diseases | mass spectrometry | lysophospholipid | lysosome | ceramides | lipidomics
Journal Article
Journal of neurology, ISSN 0340-5354, 08/2018, Volume 265, Issue 8, p. 1789
We report the cognitive features and progression of Parkinson's disease (PD) in five patients with concurrent Gaucher disease. The patients presented at an... 
Parkinson Disease | Follow-Up Studies | Humans | Middle Aged | Cognitive Dysfunction | Female | Male | Cognition | Aged | Gaucher Disease | Disease Progression | Dementia
Journal Article
Journal of Biological Chemistry, ISSN 0021-9258, 09/2015, Volume 290, Issue 37, pp. 22851 - 22861
Journal Article
ISSN 0006-4971, 2017
In the phase 3 trial of eliglustat in patients with Gaucher disease type 1 already stabilized with enzyme therapy (ENCORE), at one year, eliglustat was... 
substrate reduction therapy | Gaucher disease type 1 | acid β-glucosidase deficiency | enzyme replacement therapy | eliglustat | imiglucerase
Journal Article
F1000Research, ISSN 2046-1402, 2017, Volume 6, p. 1751
Recently, the development of Parkinson's disease (PD) has been linked to a number of genetic risk factors, of which the most common is glucocerebrosidase (GBA)... 
Journal Article
International Journal of Radiation Oncology, Biology, Physics, ISSN 0360-3016, 2010, Volume 78, Issue 1, pp. 205 - 212
Purpose Oncogenic activation of Ras renders cancer cells resistant to ionizing radiation (IR), but the mechanisms have not been fully characterized. The... 
Radiology | Hematology, Oncology and Palliative Medicine | RalBP1 | RalA | Ionizing radiation | RalB | Pancreatic cancer | CARCINOMA CELLS | TUMOR-CELLS | G2 DELAY | KAPPA-B | GROWTH-FACTOR RECEPTOR | H-RAS | K-RAS | ONCOLOGY | PATHWAY | NIH3T3 CELLS | DEPENDENT ACTIVATION | RADIOLOGY, NUCLEAR MEDICINE & MEDICAL IMAGING | Cell Line | Humans | Pancreatic Neoplasms - pathology | Pancreatic Neoplasms - radiotherapy | Radiation Tolerance - genetics | ral GTP-Binding Proteins - physiology | ATP-Binding Cassette Transporters - physiology | Cell Survival - radiation effects | Colony-Forming Units Assay - methods | Gene Knockdown Techniques | Radiation Tolerance - physiology | Inverted Repeat Sequences - physiology | Cell Survival - physiology | GTPase-Activating Proteins - physiology | Genes, ras - genetics | Radiation | G proteins | Index Medicus | Apoptosis | APOPTOSIS | DIGESTIVE SYSTEM | PANCREAS | SENSITIVITY | BIOLOGICAL RECOVERY | IRRADIATION | REPAIR | GLANDS | ENDOCRINE GLANDS | RADIATIONS | VERTEBRATES | RADIOLOGY AND NUCLEAR MEDICINE | MICE | EXTERNAL IRRADIATION | MAMMALS | ANIMALS | WHOLE-BODY IRRADIATION | RODENTS | NEOPLASMS | COLONY FORMATION | IONIZING RADIATIONS | ORGANS | RADIATION, THERMAL, AND OTHER ENVIRONMENTAL POLLUTANT EFFECTS ON LIVING ORGANISMS AND BIOLOGICAL MATERIALS | DISEASES | DNA REPAIR | BIOLOGICAL REPAIR | RADIOSENSITIVITY | BODY | SURVIVAL CURVES | pancreatic cancer | ionizing radiation
Journal Article
Journal of Religious History, ISSN 0022-4227, 09/2013, Volume 37, Issue 3, pp. 415 - 416
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2007, Volume 92, Issue 4, pp. 14 - 14
Journal Article
Molecular Therapy, ISSN 1525-0016, 2006, Volume 13, Issue S1, pp. S342 - S342
  Feline ganglioside storage diseases are authentic models of the human conditions and are valuable for development of gene therapy strategies for human... 
Journal Article
Molecular Genetics and Metabolism, ISSN 1096-7192, 2008, Volume 93, Issue 2, pp. 45 - 45
Journal Article
by Aaboud, M and Aad, G and Abbott, B and Abdallah, J and Abdinov, O and Abeloos, B and Abidi, S. H and AbouZeid, O. S and Abraham, N. L and Abramowicz, H and Abreu, H and Abreu, R and Abulaiti, Y and Acharya, B. S and Adachi, S and Adamczyk, L and Adelman, J and Adersberger, M and Adye, T and Affolder, A. A and Agatonovic-Jovin, T and Agheorghiesei, C and Aguilar-Saavedra, J. A and Ahlen, S. P and Ahmadov, F and Aielli, G and Akatsuka, S and Akerstedt, H and Åkesson, T. P. A and Akimov, A. V and Alberghi, G. L and Albert, J and Alconada Verzini, M. J and Aleksa, M and Aleksandrov, I. N and Alexa, C and Alexander, G and Alexopoulos, T and Alhroob, M and Ali, B and Aliev, M and Alimonti, G and Alison, J and Alkire, S. P and Allbrooke, B. M. M and Allen, B. W and Allport, P. P and Aloisio, A and Alonso, A and Alonso, F and Alpigiani, C and Alshehri, A. A and Alstaty, M and Alvarez Gonzalez, B and Álvarez Piqueras, D and Alviggi, M. G and Amadio, B. T and Amaral Coutinho, Y and Amelung, C and Amidei, D and Amor Dos Santos, S. P and Amorim, A and Amoroso, S and Amundsen, G and Anastopoulos, C and Ancu, L. S and Andari, N and Andeen, T and Anders, C. F and Anders, J. K and Anderson, K. J and Andreazza, A and Andrei, V and Angelidakis, S and Angelozzi, I and Angerami, A and Anghinolfi, F and Anisenkov, A. V and Anjos, N and Annovi, A and Antel, C and Antonelli, M and Antonov, A and Antrim, D. J and Anulli, F and Aoki, M and Aperio Bella, L and Arabidze, G and Arai, Y and Araque, J. P and Araujo Ferraz, V and Arce, A. T. H and Ardell, R. E and Arduh, F. A and Arguin, J-F and Argyropoulos, S and Arik, M and Armbruster, A. J and Armitage, L. J and Arnaez, O and ...
2017
Inclusive jet production cross-sections are measured in proton--proton collisions at a centre-of-mass energy of $\sqrt{s}=$8 TeV recorded by the ATLAS... 
Paper
Lancet, The, ISSN 0140-6736, 2014, Volume 383, Issue 9927, pp. 1520 - 1520
Journal Article
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