about
Cerebrospinal fluid lysosomal enzymes and alpha-synuclein in Parkinson's diseaseN-alpha-acetylation of α-synuclein increases its helical folding propensity, GM1 binding specificity and resistance to aggregation.GM1 gangliosidosis and Morquio B disease: an update on genetic alterations and clinical findings.Clinical Findings and Natural History in Ten Unrelated Families with Juvenile and Adult GM1 Gangliosidosis.An insight into the biochemistry of inborn errors of metabolism for a clinical neurologist.Quality control gone wrong: mitochondria, lysosomal storage disorders and neurodegeneration.Lysosomal storage disorders and Parkinson's disease: Gaucher disease and beyond.Inclusion and exclusion criteria for DBS in dystonia.Glucocerebrosidase involvement in Parkinson disease and other synucleinopathies.Myoclonus and dystonia in cerebrotendinous xanthomatosis.Parkinsonism and inborn errors of metabolism.Genetic convergence of Parkinson's disease and lysosomal storage disorders.Nomenclature of genetic movement disorders: Recommendations of the international Parkinson and movement disorder society task force.Changes in endolysosomal enzyme activities in cerebrospinal fluid of patients with Parkinson's disease.Fluorous iminoalditols act as effective pharmacological chaperones against gene products from GLB₁ alleles causing GM1-gangliosidosis and Morquio B disease.β-Galactosidosis in Patient with Intermediate GM1 and MBD Phenotype.The treatment of juvenile/adult GM1-gangliosidosis with Miglustat may reverse disease progression.MRI/MRS as a surrogate marker for clinical progression in GM1 gangliosidosis.Glycosphingolipid levels and glucocerebrosidase activity are altered in normal aging of the mouse brain.Parkinsonism in Inherited Metabolic Disorders: Key Considerations and Major Features
P2860
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P2860
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
2005年论文
@zh
2005年论文
@zh-cn
name
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
@ast
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
@en
type
label
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
@ast
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
@en
prefLabel
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
@ast
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
@en
P2093
P356
P1433
P1476
Dystonia and parkinsonism in GM1 type 3 gangliosidosis.
@en
P2093
Anne Roubergue
Annie Maurel-Ollivier
Catherine Caillaud
Damien Galanaud
Diane Doummar
Eduard Paschke
Emmanuel Roze
Kunihiro Yoshida
Nathalie Lopez
Thomas Eck
P304
P356
10.1002/MDS.20593
P407
P577
2005-10-01T00:00:00Z