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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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DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers

Neurology, 2007-03, Vol.68 (11), p.812

2007

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Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study

Digestive diseases and sciences, 2022-11, Vol.67 (11), p.5107-5115

2022

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Addressing the Challenges of the Clinical Application of Pharmacogenetic Testing

Clinical pharmacology and therapeutics, 2009-07, Vol.86 (1), p.28-31

2009

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Fatty acid incorporation is decreased in astrocytes cultured from α‐synuclein gene‐ablated mice

Journal of neurochemistry, 2005-08, Vol.94 (3), p.839-849

2005

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Mutation in the α-synuclein gene identified in families with Parkinson's disease

Science (American Association for the Advancement of Science), 1997-06, Vol.276 (5321), p.2045-2047

1997

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Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23

Science (American Association for the Advancement of Science), 1996-11, Vol.274 (5290), p.1197-1199

1996

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SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies

Neurology, 2004-08, Vol.63 (3), p.554

2004

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A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

Human molecular genetics, 2015-04, Vol.24 (7), p.1836-1842

2015

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The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

Cell, 1993-07, Vol.74 (2), p.291-298

1993

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Abnormal bradykinin signalling in fibroblasts deficient in the PIP₂ 5-phosphatase, ocrl1

Journal of inherited metabolic disease, 2009, Vol.32 (2), p.280-288

2009

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Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease

Molecular psychiatry, 1998-11, Vol.3 (6), p.493-499

1998

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Genetics of Parkinson's Disease

Human molecular genetics, 1997-01, Vol.6 (10), p.1687-1691

1997

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The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2

The EMBO journal, 1995-11, Vol.14 (21), p.5358-5366

1995

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Synaptic Vesicle Depletion Correlates with Attenuated Synaptic Responses to Prolonged Repetitive Stimulation in Mice Lacking alpha -Synuclein

The Journal of neuroscience, 2002-10, Vol.22 (20), p.8797-8807

2002

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Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome

Cell, 1994-04, Vol.77 (1), p.33-39

1994

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Dent Disease with Mutations in OCRL1

American journal of human genetics, 2005-02, Vol.76 (2), p.260-267

2005

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Identification, localization and characterization of the human γ-synuclein gene

Human genetics, 1998-07, Vol.103 (1), p.106-112

1998

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Lipid Droplet Binding and Oligomerization Properties of the Parkinson's Disease Protein α-Synuclein

The Journal of biological chemistry, 2002-02, Vol.277 (8), p.6344-6352

2002

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Physical mapping and genomic structure of the Lowe syndrome gene OCRL1

Human genetics, 1997-02, Vol.99 (2), p.145-150

1997

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Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system

Human molecular genetics, 2001-12, Vol.10 (26), p.3101-3109

2001

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Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry

Nature biotechnology, 2003-07, Vol.21 (7), p.813-817

2003

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Early embryonic lethality in mice deficient in the p110β catalytic subunit of PI 3-kinase

Mammalian genome, 2002-03, Vol.13 (3), p.169-172

2002

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Proliferative Defect and Embryonic Lethality in Mice Homozygous for a Deletion in the p110α Subunit of Phosphoinositide 3-Kinase

The Journal of biological chemistry, 1999-04, Vol.274 (16), p.10963-10968

1999

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Regulation of α-Synuclein Expression by Poly (ADP Ribose) Polymerase-1 (PARP-1) Binding to the NACP-Rep1 Polymorphic Site Upstream of the SNCA Gene

American journal of human genetics, 2005-03, Vol.76 (3), p.478-492

2005

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Parkinsonism among Gaucher disease carriers

DLB and PDD boundary issues: diagnosis, treatment, molecular pathology, and biomarkers

Germline Cancer Testing in Unselected Patients with Gastric and Esophageal Cancers: A Multi-center Prospective Study

Addressing the Challenges of the Clinical Application of Pharmacogenetic Testing

Fatty acid incorporation is decreased in astrocytes cultured from α‐synuclein gene‐ablated mice

Mutation in the α-synuclein gene identified in families with Parkinson's disease

Mapping of a Gene for Parkinson's Disease to Chromosome 4q21-q23

SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies

A shower of second hit events as the cause of multifocal renal cell carcinoma in tuberous sclerosis complex

The protein product of the fragile X gene, FMR1, has characteristics of an RNA-binding protein

Abnormal bradykinin signalling in fibroblasts deficient in the PIP₂ 5-phosphatase, ocrl1

Alpha synuclein is present in Lewy bodies in sporadic Parkinson's disease

Genetics of Parkinson's Disease

The fragile X mental retardation syndrome protein interacts with novel homologs FXR1 and FXR2

Synaptic Vesicle Depletion Correlates with Attenuated Synaptic Responses to Prolonged Repetitive Stimulation in Mice Lacking alpha -Synuclein

Essential role for KH domains in RNA binding: Impaired RNA binding by a mutation in the KH domain of FMR1 that causes fragile X syndrome

Dent Disease with Mutations in OCRL1

Identification, localization and characterization of the human γ-synuclein gene

Lipid Droplet Binding and Oligomerization Properties of the Parkinson's Disease Protein α-Synuclein

Physical mapping and genomic structure of the Lowe syndrome gene OCRL1

Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system

Phosphoinositide profiling in complex lipid mixtures using electrospray ionization mass spectrometry

Early embryonic lethality in mice deficient in the p110β catalytic subunit of PI 3-kinase

Proliferative Defect and Embryonic Lethality in Mice Homozygous for a Deletion in the p110α Subunit of Phosphoinositide 3-Kinase

Regulation of α-Synuclein Expression by Poly (ADP Ribose) Polymerase-1 (PARP-1) Binding to the NACP-Rep1 Polymorphic Site Upstream of the SNCA Gene

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