Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond (Q37880734)

24 August 2017

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title

Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond (English)

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24 August 2017

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Anthony H Futerman

6

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author name string

Tamar Shachar

1

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24 August 2017

Christophe Lo Bianco

2

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24 August 2017

Alessandra Recchia

3

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24 August 2017

Christoph Wiessner

4

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24 August 2017

Annick Raas-Rothschild

5

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24 August 2017

language of work or name

English

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publication date

26 May 2011

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24 August 2017

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24 August 2017

26

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24 August 2017

1593-1604

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24 August 2017

9

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Parkinsonism: A Review-of-Systems Approach to Diagnosis

24 August 2017

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Assessing disease progression with MRI in atypical parkinsonian disorders

21 January 2018

1 reference

Significance of MRI in diagnosis and differential diagnosis of Parkinson's disease

21 January 2018

1 reference

Vascular parkinsonism--an important cause of parkinsonism in older people

21 January 2018

1 reference

A historical analysis of the relationship between encephalitis lethargica and postencephalitic parkinsonism: a complex rather than a direct relationship

21 January 2018

1 reference

Movement disorders and Creutzfeldt-Jakob disease: a review

21 January 2018

1 reference

Paraquat exposure as an etiological factor of Parkinson's disease

21 January 2018

1 reference

Atypical parkinsonism and motor neuron syndrome in a Biosphere 2 participant: a possible complication of chronic hypoxia and carbon monoxide toxicity?

21 January 2018

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Parkinsonism caused by chronic usage of intravenous potassium permanganate

21 January 2018

1 reference

Neurological complications of psychiatric drugs: clinical features and management

21 January 2018

1 reference

'Non-neuronopathic' Gaucher disease reconsidered. Prevalence of neurological manifestations in a Dutch cohort of type I Gaucher disease patients and a systematic review of the literature.

21 January 2018

1 reference

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

21 January 2018

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21 January 2018

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The Lewy body in Parkinson's disease: molecules implicated in the formation and degradation of alpha-synuclein aggregates

21 January 2018

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Proteomic identification of novel proteins associated with Lewy bodies

21 January 2018

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Alpha-synuclein in Lewy bodies

21 January 2018

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Phosphorylation of Ser-129 is the dominant pathological modification of alpha-synuclein in familial and sporadic Lewy body disease

21 January 2018

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Widespread nitration of pathological inclusions in neurodegenerative synucleinopathies

21 January 2018

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Alpha-synuclein in Lewy body disease and Alzheimer's disease

21 January 2018

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NACP, a presynaptic protein, immunoreactivity in Lewy bodies in Parkinson's disease.

21 January 2018

1 reference

Review: Familial Parkinson's disease--genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease

21 January 2018

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Genetics of Parkinson disease: paradigm shifts and future prospects.

21 January 2018

1 reference

Update on the pathogenesis of Parkinson's disease

21 January 2018

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The genetics of Parkinson's syndromes: a critical review

21 January 2018

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Missing pieces in the Parkinson's disease puzzle

21 January 2018

1 reference

The cell biology of lysosomal storage disorders

21 January 2018

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Common and uncommon pathogenic cascades in lysosomal storage diseases

21 January 2018

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The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders

21 January 2018

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Lysosomal function in macromolecular homeostasis and bioenergetics in Parkinson's disease

21 January 2018

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Multi-system disorders of glycosphingolipid and ganglioside metabolism

21 January 2018

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Occurrence of Parkinson's syndrome in type I Gaucher disease

21 January 2018

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Parkinsonism among Gaucher disease carriers

21 January 2018

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Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?

21 January 2018

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Autosomal recessive mutations in the development of Parkinson's disease

21 January 2018

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.

21 January 2018

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Complete screening for glucocerebrosidase mutations in Parkinson disease patients from Greece

21 January 2018

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Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

21 January 2018

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Association between GBA L444P mutation and sporadic Parkinson's disease from Mainland China.

21 January 2018

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Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease

21 January 2018

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Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders

21 January 2018

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The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations

21 January 2018

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Neuropathology provides clues to the pathophysiology of Gaucher disease.

21 January 2018

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Alpha-synuclein-glucocerebrosidase interactions in pharmacological Gaucher models: a biological link between Gaucher disease and parkinsonism.

21 January 2018

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Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization

21 January 2018

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Functional brain imaging in glucocerebrosidase mutation carriers with and without parkinsonism

21 January 2018

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The ubiquitin pathway in Parkinson's disease.

21 January 2018

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Mendelian forms of Parkinson's disease

21 January 2018

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UCHL1 is a Parkinson's disease susceptibility gene.

21 January 2018

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The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility

21 January 2018

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Altered gene expression in cells from patients with lysosomal storage disorders suggests impairment of the ubiquitin pathway.

21 January 2018

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Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism

21 January 2018

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Interaction between parkin and mutant glucocerebrosidase variants: a possible link between Parkinson disease and Gaucher disease

21 January 2018

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Dystonia and parkinsonism in GM1 type 3 gangliosidosis

21 January 2018

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Clinical features of adult GM1 gangliosidosis: report of three Indian patients and review of 40 cases.

21 January 2018

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GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients

21 January 2018

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Neuronal and glial accumulation of alpha- and beta-synucleins in human lipidoses

21 January 2018

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Mechanisms of neurodegeneration in mucopolysaccharidoses II and IIIB: analysis of human brain tissue

21 January 2018

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A block of autophagy in lysosomal storage disorders

21 January 2018

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Aberrant phosphorylation of alpha-synuclein in human Niemann-Pick type C1 disease

21 January 2018

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Heterozygous Niemann-Pick disease type C presenting with tremor.

21 January 2018

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The diverse neurological features of Niemann-Pick disease type C: a report of two cases.

21 January 2018

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Neuronal ceroid lipofuscinoses

21 January 2018

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Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease

21 January 2018

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The first three Russian cases of classical, late-infantile, neuronal ceroid lipofuscinosis

21 January 2018

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A favorable response to antiparkinsonian treatment in juvenile neuronal ceroid lipofuscinosis

21 January 2018

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[18F]fluorodopa PET shows striatal dopaminergic dysfunction in juvenile neuronal ceroid lipofuscinosis.

21 January 2018

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Malignant syndrome in Parkinson's disease: concept and review of the literature

21 January 2018

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Adult-onset neuronal ceroid lipofuscinosis (Kufs disease) with autosomal dominant inheritance in Alabama.

21 January 2018

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Autosomal dominant adult neuronal ceroid lipofuscinosis: parkinsonism due to both striatal and nigral dysfunction.

21 January 2018

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Lysosomal enzyme cathepsin D protects against alpha-synuclein aggregation and toxicity

21 January 2018

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Cathepsin D expression level affects alpha-synuclein processing, aggregation, and toxicity in vivo.

21 January 2018

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Niemann-Pick disease type B: an unusual clinical presentation with multiple vertebral fractures

21 January 2018

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Parkinsonism and Anderson Fabry's disease: a case report.

21 January 2018

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Fabry disease: immunocytochemical characterization of neuronal involvement

21 January 2018

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Late-onset Tay-Sachs disease: phenotypic characterization and genotypic correlations in 21 affected patients.

21 January 2018

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Prevalence of lysosomal storage disorders

21 January 2018

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Brain dopamine and the syndromes of Parkinson and Huntington. Clinical, morphological and neurochemical correlations

21 January 2018

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Movement disorders and inborn errors of metabolism in adults: a diagnostic approach

21 January 2018

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The lysosome and neurodegenerative diseases

21 January 2018

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The neuropathogenic contributions of lysosomal dysfunction

21 January 2018

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Pathogenic lysosomal depletion in Parkinson's disease

21 January 2018

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Altered expression and distribution of cathepsins in neuronopathic forms of Gaucher disease and in other sphingolipidoses.

21 January 2018

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Alpha-synuclein is part of a diverse and highly conserved interaction network that includes PARK9 and manganese toxicity

21 January 2018

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α-Synuclein Is Degraded by Both Autophagy and the Proteasome

21 January 2018

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The role of autophagy-lysosome pathway in neurodegeneration associated with Parkinson's disease

21 January 2018

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Regulation of autophagy by extracellular signal-regulated protein kinases during 1-methyl-4-phenylpyridinium-induced cell death

21 January 2018

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Lysosomal fusion and SNARE function are impaired by cholesterol accumulation in lysosomal storage disorders

21 January 2018

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SNARE protein redistribution and synaptic failure in a transgenic mouse model of Parkinson's disease

21 January 2018

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Proteasome inhibition modeling nigral neuron degeneration in Parkinson's disease

21 January 2018

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Ubiquitin carboxyl-terminal hydrolase (PGP 9.5) is selectively present in ubiquitinated inclusion bodies characteristic of human neurodegenerative diseases.

21 January 2018

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HSP70 and lysosomal storage disorders: novel therapeutic opportunities.

21 January 2018

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Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology.

21 January 2018

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The pharmacological chaperone isofagomine increases the activity of the Gaucher disease L444P mutant form of beta-glucosidase

21 January 2018

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Chemical chaperone therapy for GM1-gangliosidosis

21 January 2018

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Molecular chaperones as rational drug targets for Parkinson's disease therapeutics

21 January 2018

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Etiology and pathogenesis of Parkinson's disease

21 January 2018

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New insights into the role of mitochondrial dysfunction and protein aggregation in Parkinson's disease

21 January 2018

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Expanding insights of mitochondrial dysfunction in Parkinson's disease.

21 January 2018

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Mitochondrial dysfunction in the neuronal ceroid-lipofuscinoses (Batten disease).

21 January 2018

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Fabry disease: reduced activities of respiratory chain enzymes with decreased levels of energy-rich phosphates in fibroblasts

21 January 2018

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Enhanced autophagy and mitochondrial aberrations in murine G(M1)-gangliosidosis

21 January 2018

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Critical role of iron in the pathogenesis of the murine gangliosidoses.

21 January 2018

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Enhanced calcium release in the acute neuronopathic form of Gaucher disease

21 January 2018

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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.

21 January 2018

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Cell-produced alpha-synuclein is secreted in a calcium-dependent manner by exosomes and impacts neuronal survival

21 January 2018

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Different species of alpha-synuclein oligomers induce calcium influx and seeding.

21 January 2018

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Calcium, cellular aging, and selective neuronal vulnerability in Parkinson's disease

21 January 2018

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Calcium homeostasis, selective vulnerability and Parkinson's disease

21 January 2018

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Oxidative and nitrosative stress in Parkinson's disease

21 January 2018

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Oxidative stress and the pathogenesis of Parkinson's disease

21 January 2018

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The roles of neuromelanin, binding of metal ions, and oxidative cytotoxicity in the pathogenesis of Parkinson's disease: a hypothesis

21 January 2018

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Dopamine-dependent neurotoxicity of alpha-synuclein: a mechanism for selective neurodegeneration in Parkinson disease

21 January 2018

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Emerging pathways in genetic Parkinson's disease: Potential role of ceramide metabolism in Lewy body disease

21 January 2018

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C. elegans model identifies genetic modifiers of alpha-synuclein inclusion formation during aging

21 January 2018

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The role of the ceramide acyl chain length in neurodegeneration: involvement of ceramide synthases

21 January 2018

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Parkin prevents mitochondrial swelling and cytochrome c release in mitochondria-dependent cell death.

21 January 2018

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Multiple tight phospholipid-binding modes of alpha-synuclein revealed by solution NMR spectroscopy

21 January 2018

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Differential phospholipid binding of alpha-synuclein variants implicated in Parkinson's disease revealed by solution NMR spectroscopy

21 January 2018

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Membrane binding and self-association of alpha-synucleins.

21 January 2018

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The lipid-binding domain of wild type and mutant alpha-synuclein: compactness and interconversion between the broken and extended helix forms

21 January 2018

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Alpha-synuclein selectively binds to anionic phospholipids embedded in liquid-disordered domains.

21 January 2018

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The N-terminus of the intrinsically disordered protein α-synuclein triggers membrane binding and helix folding

21 January 2018

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Lipid rafts mediate the synaptic localization of alpha-synuclein.

21 January 2018

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Quantification of alpha-synuclein binding to lipid vesicles using fluorescence correlation spectroscopy

21 January 2018

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Secondary accumulation of gangliosides in lysosomal storage disorders

21 January 2018

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Partial cure of established disease in an animal model of metachromatic leukodystrophy after intracerebral adeno-associated virus-mediated gene transfer

21 January 2018

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The frequency of lysosomal storage diseases in The Netherlands.

21 January 2018

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Prevalence of lysosomal storage diseases in Portugal

21 January 2018

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The birth prevalence of lysosomal storage disorders in the Czech Republic: comparison with data in different populations

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/MDS.23774

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24 August 2017

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