The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations. - Wikidata - wikimedia - TriplyDB

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

http://www.wikidata.org/entity/Q37068884

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Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease.The genetics and neuropathology of Parkinson's disease Glucocerebrosidase and Parkinson disease: Recent advances The relationship between glucocerebrosidase mutations and Parkinson disease Parkinson disease in Gaucher disease.Adult Gaucher disease in southern Tunisia: report of three cases Revised recommendations for the management of Gaucher disease in children.Identification and characterization of ambroxol as an enzyme enhancement agent for Gaucher disease Comparison of Parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes.Multi-system disorders of glycosphingolipid and ganglioside metabolism The risk of Parkinson's disease in type 1 Gaucher disease.Gaucher disease ascertained through a Parkinson's center: imaging and clinical characterization.Gaucher disease: insights from a rare Mendelian disorder.The link between the GBA gene and parkinsonism The diagnosis of young-onset dementia.Hyposmia and cognitive impairment in Gaucher disease patients and carriers Gaucher disease and its treatment options.A reappraisal of Gaucher disease-diagnosis and disease management algorithms.Biomarkers in the diagnosis of lysosomal storage disorders: proteins, lipids, and inhibodies.Parkinsonism associated with glucocerebrosidase mutation.Olfactory dysfunction in LRRK2 G2019S mutation carriers CNS expression of glucocerebrosidase corrects alpha-synuclein pathology and memory in a mouse model of Gaucher-related synucleinopathy Synthesis and Evaluation of Hybrid Structures Composed of Two Glucosylceramide Synthase Inhibitors.Glucocerebrosidase is present in α-synuclein inclusions in Lewy body disorders.Glucocerebrosidase activity in Parkinson's disease with and without GBA mutations Progression of Behavioral and CNS Deficits in a Viable Murine Model of Chronic Neuronopathic Gaucher Disease.The neurobiology of glucocerebrosidase-associated parkinsonism: a positron emission tomography study of dopamine synthesis and regional cerebral blood flow Olfaction in Parkinson's disease and related disorders.GBA Variants Influence Motor and Non-Motor Features of Parkinson's Disease.Glucocerebrosidase mutations alter the endoplasmic reticulum and lysosomes in Lewy body disease.Induced pluripotent stem cell model recapitulates pathologic hallmarks of Gaucher disease Premotor biomarkers for Parkinson's disease - a promising direction of research.Age-specific Parkinson disease risk in GBA mutation carriers: information for genetic counseling The role of glucocerebrosidase mutations in Parkinson disease and Lewy body disorders Clinical course and prognosis in patients with Gaucher disease and parkinsonism A New Glucocerebrosidase Chaperone Reduces α-Synuclein and Glycolipid Levels in iPSC-Derived Dopaminergic Neurons from Patients with Gaucher Disease and Parkinsonism.The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism Glucocerebroside: an evolutionary advantage for patients with Gaucher disease and a new immunomodulatory agent.Glycosphingolipids--nature, function, and pharmacological modulation.Laboratory and genetic evaluation of Gaucher disease.

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P2860

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

http://www.wikidata.org/entity/Q37068884

description

article científic

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article scientifique

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articolo scientifico

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artigo científico

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bilimsel makale

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scientific article published on October 2008

@en

vedecký článok

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vetenskaplig artikel

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videnskabelig artikel

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vědecký článek

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name

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

@en

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

@nl

type

label

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

@en

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

@nl

prefLabel

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

@en

The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

@nl

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ARCHNEUR.65.10.1353

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The spectrum of parkinsonian manifestations associated with glucocerebrosidase mutations.

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Ellen Sidransky

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Grisel Lopez

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Joie Davis

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Joseph Vithayathil

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Ozlem Goker-Alpan

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P2860

“Mini-mental state”

Glucocerebrosidase mutations in subjects with parkinsonism

Parkinsonism: onset, progression and mortality

Epidemiology of Parkinson's disease

Glucocerebrosidase mutations in Chinese subjects from Taiwan with sporadic Parkinson disease

Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data.

Reciprocal and nonreciprocal recombination at the glucocerebrosidase gene region: implications for complexity in Gaucher disease.

Preclinical (premotor) Parkinson's disease.

Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews.

Parkinsonism among Gaucher disease carriers

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10.1001/ARCHNEUR.65.10.1353

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Parkinson's disease

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