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Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Immunity (Cambridge, Mass.), 2015-06, Vol.42 (6), p.1185-1196

2015

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Genome-wide analysis of attention deficit hyperactivity disorder in Norway

PloS one, 2015-04, Vol.10 (4), p.e0122501-e0122501

2015

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Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

American journal of human genetics, 2010-09, Vol.87 (3), p.410-417

2010

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A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1

The Journal of clinical investigation, 2023-11, Vol.133 (21), p.1-16

2023

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Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

American journal of human genetics, 2011-11, Vol.89 (5), p.634-643

2011

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Exome sequencing and genetic testing for MODY

PloS one, 2012-05, Vol.7 (5), p.e38050-e38050

2012

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Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients

PloS one, 2013-08, Vol.8 (8), p.e71445-e71445

2013

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In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

Bioscience reports, 2017-04, Vol.37 (2)

2017

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Different properties of the central and peripheral forms of human tryptophan hydroxylase

Journal of neurochemistry, 2005-01, Vol.92 (2), p.311-320

2005

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Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

International journal of molecular sciences, 2021-05, Vol.22 (11), p.5870

2021

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Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

PloS one, 2016-02, Vol.11 (2), p.e0149055-e0149055

2016

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Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene

Investigative ophthalmology & visual science, 2005-02, Vol.46 (2), p.420-426

2005

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Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish

Frontiers in molecular neuroscience, 2021-09, Vol.14, p.723912-723912

2021

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Three-Dimensional Structure of Human Tryptophan Hydroxylase and Its Implications for the Biosynthesis of the Neurotransmitters Serotonin and Melatonin

Biochemistry (Easton), 2002-10, Vol.41 (42), p.12569-12574

2002

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Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding

Biochemical journal, 2008-02, Vol.410 (1), p.195-204

2008

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Global Gene Expression Profiling and Tissue Microarray Reveal Novel Candidate Genes and Down-Regulation of the Tumor Suppressor Gene CAV1 in Sporadic Vestibular Schwannomas

Neurosurgery, 2010-10, Vol.67 (4), p.998-1019

2010

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Limited gene flow among brown bear populations in far Northern Europe? Genetic analysis of the east-west border population in the Pasvik Valley

Molecular ecology, 2012-07, Vol.21 (14), p.3474-3488

2012

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Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia

Human mutation, 2014-07, Vol.35 (7), p.880-890

2014

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A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

The journal of clinical endocrinology and metabolism, 2016-08, Vol.101 (8), p.2975-2983

2016

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Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy

Investigative ophthalmology & visual science, 2010-11, Vol.51 (11), p.5578-5582

2010

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Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1

The journal of clinical endocrinology and metabolism, 2017-09, Vol.102 (9), p.3546-3556

2017

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Functional properties of missense variants of human tryptophan hydroxylase 2

Human mutation, 2009-05, Vol.30 (5), p.787-794

2009

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Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease

BMC medical genetics, 2011-08, Vol.12 (1), p.111-111, Article 111

2011

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Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies

Journal of autoimmunity, 2022-12, Vol.133, p.102917-102917, Article 102917

2022

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Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease

Movement disorders, 2018-10, Vol.33 (10), p.1591-1600

2018

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Dominant Mutations in the Autoimmune Regulator AIRE Are Associated with Common Organ-Specific Autoimmune Diseases

Genome-wide analysis of attention deficit hyperactivity disorder in Norway

Mutations in ABHD12 Cause the Neurodegenerative Disease PHARC: An Inborn Error of Endocannabinoid Metabolism

A partial form of AIRE deficiency underlies a mild form of autoimmune polyendocrine syndrome type 1

Ciliopathies with Skeletal Anomalies and Renal Insufficiency due to Mutations in the IFT-A Gene WDR19

Exome sequencing and genetic testing for MODY

Functional properties of rare missense variants of human CDH13 found in adult attention deficit/hyperactivity disorder (ADHD) patients

In vitro characterization of six STUB1 variants in spinocerebellar ataxia 16 reveals altered structural properties for the encoded CHIP proteins

Different properties of the central and peripheral forms of human tryptophan hydroxylase

Genetic Dominant Variants in STUB1, Segregating in Families with SCA48, Display In Vitro Functional Impairments Indistinctive from Recessive Variants Associated with SCAR16

Novel SLC19A3 Promoter Deletion and Allelic Silencing in Biotin-Thiamine-Responsive Basal Ganglia Encephalopathy

Congenital Stromal Dystrophy of the Cornea Caused by a Mutation in the Decorin Gene

Chip Protein U-Box Domain Truncation Affects Purkinje Neuron Morphology and Leads to Behavioral Changes in Zebrafish

Three-Dimensional Structure of Human Tryptophan Hydroxylase and Its Implications for the Biosynthesis of the Neurotransmitters Serotonin and Melatonin

Activation and stabilization of human tryptophan hydroxylase 2 by phosphorylation and 14-3-3 binding

Global Gene Expression Profiling and Tissue Microarray Reveal Novel Candidate Genes and Down-Regulation of the Tumor Suppressor Gene CAV1 in Sporadic Vestibular Schwannomas

Limited gene flow among brown bear populations in far Northern Europe? Genetic analysis of the east-west border population in the Pasvik Valley

Functional Studies of Tyrosine Hydroxylase Missense Variants Reveal Distinct Patterns of Molecular Defects in Dopa-Responsive Dystonia

A Longitudinal Follow-up of Autoimmune Polyendocrine Syndrome Type 1

Decorin accumulation contributes to the stromal opacities found in congenital stromal corneal dystrophy

Expanding the Phenotypic and Genotypic Landscape of Autoimmune Polyendocrine Syndrome Type 1

Functional properties of missense variants of human tryptophan hydroxylase 2

Genome-wide copy number variation (CNV) in patients with autoimmune Addison's disease

Screening patients with autoimmune endocrine disorders for cytokine autoantibodies reveals monogenic immune deficiencies

Rare genetic variation in mitochondrial pathways influences the risk for Parkinson's disease

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