scholarly article | Q13442814 |
P50 | author | Raphael Schiffmann | Q91521266 |
P2093 | author name string | Ellen Sidransky | |
John M Allman | |||
Ajay Verma | |||
Glenn D Sandberg | |||
Alan Morrison | |||
Alicia Lwin | |||
Carlos Colegial | |||
Kondi Wong | |||
Laura K Wakefield | |||
Tonghui Mixon | |||
P2860 | cites work | Sphingolipidoses | Q66707026 |
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Factors affecting the binding of glucosylceramidase to its natural substrate dispersion | Q69393326 | ||
Gaucher's Disease: Neurologic Disorder in Adult Siblings | Q69541878 | ||
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alpha-Synuclein membrane interactions and lipid specificity | Q74071513 | ||
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Feedback connections from area MT of the squirrel monkey to areas V1 and V2 | Q74267350 | ||
Gaucher disease and parkinsonism: a phenotypic and genotypic characterization | Q74386360 | ||
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Cree leukoencephalopathy and CACH/VWM disease are allelic at the EIF2B5 locus | Q28204048 | ||
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Axon pathology in Parkinson's disease and Lewy body dementia hippocampus contains alpha-, beta-, and gamma-synuclein | Q36677512 | ||
Alpha-synuclein, especially the Parkinson's disease-associated mutants, forms pore-like annular and tubular protofibrils | Q39632694 | ||
The synaptic nature of the paroxysmal depolarizing shift in hippocampal neurons | Q40079359 | ||
Calcium pools mobilized by calcium or inositol 1,4,5-trisphosphate are differentially localized in rat heart and brain | Q40241162 | ||
Rat brain endoplasmic reticulum calcium pools are anatomically and functionally segregated | Q40641865 | ||
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Activity of the phosphatidylcholine biosynthetic pathway modulates the distribution of fatty acids into glycerolipids in proliferating cells. | Q40901145 | ||
Both familial Parkinson's disease mutations accelerate alpha-synuclein aggregation | Q40964871 | ||
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Familial Psychosis and Diverse Neurologic Abnormalities in Adult-Onset Gaucher's Disease | Q41438249 | ||
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alpha-synuclein fibrillogenesis is nucleation-dependent. Implications for the pathogenesis of Parkinson's disease | Q41676981 | ||
Excitatory synaptic interactions between CA3 neurones in the guinea-pig hippocampus | Q41904635 | ||
Reactions of vessel walls and brain parenchyma to the accumulation of Gaucher cells in the Norrbottnian type (type III) of Gaucher disease | Q42213816 | ||
Type 2 and type 3 Gaucher disease: a morphological and biochemical study | Q42221976 | ||
Specificity of human glucosylceramide beta-glucosidase towards synthetic glucosylsphingolipids inserted into liposomes. Kinetic studies in a detergent-free assay system | Q42222879 | ||
Neuropathology of the Norrbottnian type of Gaucher disease. Morphological and biochemical studies | Q42251245 | ||
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Solubilization of glucocerebrosidase from human placenta and demonstration of a phospholipid requirement for its catalytic activity | Q44113753 | ||
Phosphatidylcholine synthesis is elevated in neuronal models of Gaucher disease due to direct activation of CTP:phosphocholine cytidylyltransferase by glucosylceramide | Q44132494 | ||
Aggresome-related biogenesis of Lewy bodies | Q44242992 | ||
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Glucosylceramide and glucosylsphingosine modulate calcium mobilization from brain microsomes via different mechanisms | Q44412880 | ||
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Elevation of intracellular glucosylceramide levels results in an increase in endoplasmic reticulum density and in functional calcium stores in cultured neurons | Q48153561 | ||
Parkinson's syndrome preceding clinical manifestation of Gaucher's disease | Q48168785 | ||
Binding of alpha-synuclein to brain vesicles is abolished by familial Parkinson's disease mutation. | Q48384247 | ||
Selective neurofibrillary degeneration of the hippocampal CA2 sector is associated with four-repeat tauopathies | Q48425178 | ||
Laminar organization of geniculocortical projections in Galago senegalensis and Aotus trivirgatus | Q48426246 | ||
Thalamic and other subcortical projections to area MT (visual area of superior temporal sulcus) in the marmoset Callithrix jacchus | Q48429413 | ||
Hippocampal lesions in the neuronal ceroid lipofuscinoses | Q48763209 | ||
Late-infantile Gaucher disease in a child with myoclonus and bulbar signs: neuropathological and neurochemical findings | Q48820932 | ||
Inositol trisphosphate and thapsigargin discriminate endoplasmic reticulum stores of calcium in rat brain | Q48875724 | ||
Somatosensory evoked potentials as a marker of disease burden in type 3 Gaucher disease | Q49037384 | ||
Acute infantile Gaucher's disease in identical twins. An account of clinical and neuropathologic observations | Q49063038 | ||
Areal and laminar distribution of neurons interconnecting the central visual cortical areas 17, 18, 19, and MT in squirrel monkey (Saimiri) | Q49158667 | ||
Coactivation of Local Circuit NMDA Receptor Mediated epsps Induces Lasting Enhancement of Minimal Schaffer Collateral epsps in Slices of Rat Hippocampus | Q51710723 | ||
Membrane binding and self-association of alpha-synucleins | Q52543652 | ||
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P433 | issue | 3 | |
P921 | main subject | Gaucher's disease | Q861645 |
pathophysiology | Q1135939 | ||
P304 | page(s) | 192-207 | |
P577 | publication date | 2004-07-01 | |
P1433 | published in | Molecular Genetics and Metabolism | Q6895949 |
P1476 | title | Neuropathology provides clues to the pathophysiology of Gaucher disease | |
P478 | volume | 82 |
Q38110488 | "Atypical" atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy-a diagnostic guide |
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Q41871999 | Accumulation and distribution of α-synuclein and ubiquitin in the CNS of Gaucher disease mouse models |
Q35960402 | Aggregation of α-synuclein in brain samples from subjects with glucocerebrosidase mutations |
Q47289706 | Altered Differentiation Potential of Gaucher's Disease iPSC Neuronal Progenitors due to Wnt/β-Catenin Downregulation |
Q57295636 | Altered brain functional network in children with type 1 Gaucher disease: a longitudinal graph theory-based study |
Q42617617 | Altered intracellular redox status in Gaucher disease fibroblasts and impairment of adaptive response against oxidative stress |
Q48314813 | Altered lysosome distribution is an early neuropathological event in neurological forms of Gaucher disease |
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Q36332588 | Astrocytes and lysosomal storage diseases |
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Q37528927 | Autophagic lysosome reformation dysfunction in glucocerebrosidase deficient cells: relevance to Parkinson disease |
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Q35122963 | CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy |
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Q48824358 | Cerebrospinal fluid fatty acids in glucocerebrosidase-associated Parkinson's disease |
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Q35955350 | Exploring the link between glucocerebrosidase mutations and parkinsonism |
Q89521816 | Fabry Disease With Concomitant Lewy Body Disease |
Q36777244 | GBA deficiency promotes SNCA/α-synuclein accumulation through autophagic inhibition by inactivated PPP2A. |
Q30527838 | GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology |
Q64226316 | Gaucher Disease: New Expanded Classification Emphasizing Neurological Features |
Q36076437 | Gaucher disease and parkinsonism |
Q34348780 | Gaucher disease and parkinsonism, a molecular link theory |
Q34795306 | Gaucher disease and the synucleinopathies |
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Q38168763 | Human stem cell models of neurodegeneration: a novel approach to study mechanisms of disease development |
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Q36898538 | Induction of the type I interferon response in neurological forms of Gaucher disease |
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