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Heterozygosity for a Mendelian disorder as a risk factor for complex disease

Clinical genetics, 2006-10, Vol.70 (4), p.275-282

Sidransky, E

2006

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Consequences of β-glucocerebrosidase deficiency in epidermis : ultrastructure and permeability barrier alterations in Gaucher disease

The Journal of clinical investigation, 1994-04, Vol.93 (4), p.1756-1764

1994

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Glucocerebrosidase mutations are an important risk factor for Lewy body disorders

Neurology, 2006-09, Vol.67 (5), p.908-910

2006

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Gaucher disease: complexity in a “simple” disorder

Molecular genetics and metabolism, 2004-09, Vol.83 (1), p.6-15

Sidransky, Ellen

2004

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Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity

Blood cells, molecules, & diseases, 2011-01, Vol.46 (1), p.75-84

2011

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

Molecular genetics and metabolism, 2003-06, Vol.79 (2), p.104-109

2003

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First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L

Movement disorders clinical practice (Hoboken, N.J.), 2019-03, Vol.6 (3), p.254-258

2019

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Activation of -Glucocerebrosidase Reduces Pathological -Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons

The Journal of neuroscience, 2016-07, Vol.36 (29), p.7693-7706

2016

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Gaucher Disease and Parkinsonism: A Phenotypic and Genotypic Characterization

Molecular genetics and metabolism, 2001-08, Vol.73 (4), p.313-321

2001

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A monozygotic twin pair with highly discordant Gaucher phenotypes

Blood cells, molecules, & diseases, 2011-01, Vol.46 (1), p.39-41

2011

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Epidermal sphingomyelins are precursors for selected stratum corneum ceramides

Journal of lipid research, 2000-12, Vol.41 (12), p.2071-2082

2000

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Divergent phenotypes in Gaucher disease implicate the role of modifiers

Journal of medical genetics, 2005-06, Vol.42 (6), p.e37-e37

2005

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Biomarkers and mechanisms of central catecholamine deficiency in MSA

Autonomic neuroscience, 2015-11, Vol.192, p.33-33

2015

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Gaucher's disease with Parkinson's disease: clinical and pathological aspects

Neurology, 2003-07, Vol.61 (1), p.99-101

2003

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Can GBA1-Associated Parkinson Disease Be Modeled in the Mouse?

Trends in neurosciences (Regular ed.), 2019-09, Vol.42 (9), p.631-643

2019

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Mandibular and dental manifestations of Gaucher disease

Oral diseases, 2012-07, Vol.18 (5), p.421-429

2012

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Gaucher disease and parkinsonism

Molecular genetics and metabolism, 2005-04, Vol.84 (4), p.302-304

Sidransky, Ellen

2005

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Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

The New England journal of medicine, 2009-10, Vol.361 (17), p.1651-1661

2009

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Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications

Clinical genetics, 2009-05, Vol.75 (5), p.503-504

2009

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Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

Neurology, 2008-03, Vol.70 (12), p.976-978

2008

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Movement and mood disorder in two brothers with Gaucher disease

Clinical genetics, 2007-10, Vol.72 (4), p.357-361

2007

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Glucocerebrosidase mutations in subjects with parkinsonism

Molecular genetics and metabolism, 2004, Vol.81 (1), p.70-73

2004

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The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

Movement disorders, 2009-08, Vol.24 (11), p.1571-1578

2009

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Parkinsonism among Gaucher disease carriers

Journal of medical genetics, 2004-12, Vol.41 (12), p.937-940

2004

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Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

Genome research, 1997-10, Vol.7 (10), p.1020-1026

1997

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Heterozygosity for a Mendelian disorder as a risk factor for complex disease

Consequences of β-glucocerebrosidase deficiency in epidermis : ultrastructure and permeability barrier alterations in Gaucher disease

Glucocerebrosidase mutations are an important risk factor for Lewy body disorders

Gaucher disease: complexity in a “simple” disorder

Type 2 Gaucher disease: Phenotypic variation and genotypic heterogeneity

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

First Clinicogenetic Description of Parkinson's Disease Related to GBA Mutation S107L

Activation of -Glucocerebrosidase Reduces Pathological -Synuclein and Restores Lysosomal Function in Parkinson's Patient Midbrain Neurons

Gaucher Disease and Parkinsonism: A Phenotypic and Genotypic Characterization

A monozygotic twin pair with highly discordant Gaucher phenotypes

Epidermal sphingomyelins are precursors for selected stratum corneum ceramides

Divergent phenotypes in Gaucher disease implicate the role of modifiers

Biomarkers and mechanisms of central catecholamine deficiency in MSA

Gaucher's disease with Parkinson's disease: clinical and pathological aspects

Can GBA1-Associated Parkinson Disease Be Modeled in the Mouse?

Mandibular and dental manifestations of Gaucher disease

Gaucher disease and parkinsonism

Multicenter Analysis of Glucocerebrosidase Mutations in Parkinson's Disease

Glucocerebrosidase mutation H255Q appears to be exclusively in cis with D409H: structural implications

Uniparental disomy of chromosome 1 causing concurrent Charcot-Marie-Tooth and Gaucher disease Type 3

Movement and mood disorder in two brothers with Gaucher disease

Glucocerebrosidase mutations in subjects with parkinsonism

The association between mutations in the lysosomal protein glucocerebrosidase and parkinsonism

Parkinsonism among Gaucher disease carriers

Identification of three additional genes contiguous to the glucocerebrosidase locus on chromosome 1q21: implications for Gaucher disease

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