المؤلفون: Simone Feldengut, Albert C. Ludolph, Heiko Braak, Jürgen Bohl, Christian Jacob, Kelly Del Tredici, Heinz Reichmann

المصدر: Journal of Neuropathology and Experimental Neurology
Journal of neuropathology and experimental neurology 79(4), 378-392 (2019). doi:10.1093/jnen/nlz139

مصطلحات موضوعية: complications [Lewy Body Disease], Male, Pathology, Autopsy, Disease, 0302 clinical medicine, Hypokinesia, pathology [Brain], Lysosomal storage diseases, pathology [Neurons], metabolism [alpha-Synuclein], metabolism [Fabry Disease], pathology [Astrocytes], Neurons, α-Synuclein, 0303 health sciences, Parkinsonism, Trihexosylceramides, Brain, General Medicine, Middle Aged, Parkinson disease, complications [Fabry Disease], Neurology, metabolism [Neurons], alpha-Synuclein, medicine.symptom, Lewy Body Disease, medicine.medical_specialty, metabolism [Lewy Body Disease], Context (language use), Substantia nigra, metabolism [Trihexosylceramides], Pathology and Forensic Medicine, blood supply [Brain], 03 medical and health sciences, Cellular and Molecular Neuroscience, α-Galactosidase A, medicine, Humans, ddc:610, 030304 developmental biology, pathology [Lewy Bodies], Fabry disease, business.industry, Pars compacta, pathology [Lewy Body Disease], Lewy bodies/neurites, Original Articles, metabolism [Lewy Bodies], medicine.disease, metabolism [Brain], Astrocytes, Lewy Bodies, Neurology (clinical), CD77, pathology [Fabry Disease], business, 030217 neurology & neurosurgery

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c5ea17c1d4db805cf18d858b5792e4f1Test
http://europepmc.org/articles/PMC7092358Test

المؤلفون: Frances M. Platt, Ecem Kaya, Barry Boland, Mario Cortina-Borja, Tatiana Bremova-Ertl, Joanna Poulton, Paul Fineran, Lauren Morris, Claire Friedemann Smith, David A. Smith, Michael Strupp, Karl J. Morten, John Spencer

المصدر: Kaya, Ecem; Smith, David A; Smith, Claire; Morris, Lauren; Brémovà-Ertl, Tatiana; Cortina-Borja, Mario; Fineran, Paul; Morten, Karl J; Poulton, Joanna; Boland, Barry; Spencer, John; Strupp, Michael; Platt, Frances M (2020). Acetyl-leucine slows disease progression in lysosomal storage disorders. Brain Communications, 3(1) Oxford University Press 10.1093/braincomms/fcaa148 <http://dx.doi.org/10.1093/braincomms/fcaa148Test>
Brain Communications

مصطلحات موضوعية: 0301 basic medicine, Ataxia, Branched-chain amino acid, 610 Medicine & health, Disease, Gangliosidosis, Pharmacology, Sandhoff disease, Neuroprotection, chemistry.chemical_compound, 03 medical and health sciences, 0302 clinical medicine, GM2 gangliosidosis, Miglustat, medicine, acetyl-leucine, lysosomal storage diseases, Niemann–Pick disease, type C, AcademicSubjects/SCI01870, business.industry, Niemann-Pick disease type C, General Engineering, medicine.disease, 030104 developmental biology, chemistry, Original Article, AcademicSubjects/MED00310, miglustat, NPC1, medicine.symptom, Leucine, business, 030217 neurology & neurosurgery, medicine.drug

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f7290f35042fb3646a5889375e42ed41Test

المؤلفون: Kolter, Thomas, author, Sandhoff, Konrad, author

المصدر: Neuroglycobiology : (Molecular and Cellular Neurobiology), 2005, ill.

الإتاحة: https://doi.org/10.1093/acprof:oso/9780198525387.003.0008Test

المؤلفون: Platt, Frances M., author, Butters, Terry D., author

المصدر: Lysosomal Disorders of the Brain : Recent Advances in Molecular and Cellular Pathogenesis and Treatment, 2004, ill.

الإتاحة: https://doi.org/10.1093/acprof:oso/9780198508786.003.0015Test

المؤلفون: Walkley, Steven U., author

المصدر: Lysosomal Disorders of the Brain : Recent Advances in Molecular and Cellular Pathogenesis and Treatment, 2004, ill.

الإتاحة: https://doi.org/10.1093/acprof:oso/9780198508786.003.0012Test

المساهمون: Platt, Frances M., editor, Walkley, Steven U., editor

المصدر: Lysosomal Disorders of the Brain : Recent Advances in Molecular and Cellular Pathogenesis and Treatment, 2004, ill.

الإتاحة: https://doi.org/10.1093/acprof:oso/9780198508786.003.0002Test

المؤلفون: Hirst, Jennifer, Edgar, James R, Esteves, Typhaine, Darios, Frédéric, Madeo, Marianna, Chang, Jaerak, Roda, Ricardo H, Dürr, Alexandra, Anheim, Mathieu, Gellera, Cinzia, Li, Jun, Züchner, Stephan, Mariotti, Caterina, Stevanin, Giovanni, Blackstone, Craig, Kruer, Michael C, Robinson, Margaret S

المساهمون: Hirst, Jennifer [0000-0001-9063-8494], Edgar, James [0000-0001-7903-8199], Robinson, Margaret [0000-0003-0631-0053], Apollo - University of Cambridge Repository

المصدر: Human Molecular Genetics

مصطلحات موضوعية: Male, Proteins, Articles, Endosomes, Fibroblasts, Middle Aged, Lysosomal Storage Diseases, Adaptor Proteins, Vesicular Transport, Phenotype, Gene Knockdown Techniques, Mutation, Humans, Female, RNA Interference, Lysosomes, Genetic Association Studies, Aged, HeLa Cells

وصف الملف: application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::938d0acd54bb3ec95dd57b4503eb3823Test
http://europepmc.org/articles/PMC4527494Test

المؤلفون: Platt, Frances M., Walkley, Steven U.

نوع المادة: eBook.

الموضوعات: Brain--Metabolism--Disorders, Brain--Metabolism--Disorders--Treatment, Lysosomal storage diseases, Lysosomal storage diseases--Treatment

تصنيفات: MEDICAL / Neurology, HEALTH & FITNESS / Diseases & Conditions / Alzheimer"s & Dementia