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The AMBRE project: The thick thin disk and thin thick disk of the Milky Way

Astronomy and astrophysics (Berlin), 2017-12, Vol.608, p.L1

2017

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HLA-A31:01 and HLA-B15:02 as Genetic Markers for Carbamazepine Hypersensitivity in Children

Clinical pharmacology and therapeutics, 2013-07, Vol.94 (1), p.142-149

2013

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A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length

Clinical genetics, 2004-04, Vol.65 (4), p.267-277

2004

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Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

Clinical genetics, 2007-04, Vol.71 (4), p.311-319

2007

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Replication of TPMT and ABCC3 Genetic Variants Highly Associated With Cisplatin-Induced Hearing Loss in Children

Clinical pharmacology and therapeutics, 2013-08, Vol.94 (2), p.243-251

2013

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Pharmacogenetics of Neonatal Opioid Toxicity Following Maternal Use of Codeine During Breastfeeding: A Case-Control Study

Clinical pharmacology and therapeutics, 2009-01, Vol.85 (1), p.31-35

2009

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A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease

Scientific reports, 2018-05, Vol.8 (1), p.8096-8, Article 8096

2018

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Chemical trends in the Galactic halo from APOGEE data

Monthly notices of the Royal Astronomical Society, 2017-02, Vol.465 (2), p.1586-1586

2017

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Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results

Clinical genetics, 2014-04, Vol.85 (4), p.303-311

2014

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Predictive testing for Huntington disease: interpretation and significance of intermediate alleles

Clinical genetics, 2006-10, Vol.70 (4), p.283-294

2006

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Magnetic resonance spectroscopy biomarkers in premanifest and early Huntington disease

Neurology, 2010-11, Vol.75 (19), p.1702

2010

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Cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1) and cholesterol uptake via the LDL receptor influences cholesterol-induced impairment of beta cell function in mice

Diabetologia, 2010-06, Vol.53 (6), p.1110-1119

2010

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Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease

Science (American Association for the Advancement of Science), 2001-07, Vol.293 (5529), p.493-498

2001

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Ethyl-EPA in Huntington disease: a double-blind, randomized, placebo-controlled trial

Neurology, 2005-07, Vol.65 (2), p.286

2005

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Human Mendelian pain disorders: a key to discovery and validation of novel analgesics

Clinical genetics, 2012-10, Vol.82 (4), p.367-373

2012

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Personalized gene silencing therapeutics for Huntington disease

Clinical genetics, 2014-07, Vol.86 (1), p.29-36

2014

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Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles)

American journal of medical genetics. Part B, Neuropsychiatric genetics, 2010-01, Vol.153B (1), p.314-320

2010

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The emerging era of pharmacogenomics: current successes, future potential, and challenges

Clinical genetics, 2014-07, Vol.86 (1), p.21-28

2014

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Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease

Cell death and differentiation, 2004-04, Vol.11 (4), p.424-438

2004

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What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration

Clinical genetics, 2012-04, Vol.81 (4), p.325-333

2012

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Als2-Deficient Mice Exhibit Disturbances in Endosome Trafficking Associated with Motor Behavioral Abnormalities

Proceedings of the National Academy of Sciences - PNAS, 2006-06, Vol.103 (25), p.9595-9600

2006

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Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells

Gut, 2009-03, Vol.58 (3), p.422-430

2009

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Clinical markers of early disease in persons near onset of Huntington's disease

Neurology, 2001-08, Vol.57 (4), p.658

2001

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Genetic analysis of potassium use efficiency in Brassica oleracea

Annals of botany, 2010-06, Vol.105 (7), p.1199-1210

2010

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role of free fatty acids, pancreatic lipase and Ca²⁺ signalling in injury of isolated acinar cells and pancreatitis model in lipoprotein lipase-deficient mice

Acta Physiologica, 2009, Vol.195 (1), p.13-28

2009

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The AMBRE project: The thick thin disk and thin thick disk of the Milky Way

HLA-A31:01 and HLA-B15:02 as Genetic Markers for Carbamazepine Hypersensitivity in Children

A new model for prediction of the age of onset and penetrance for Huntington's disease based on CAG length

Loss-of-function mutations in the Nav1.7 gene underlie congenital indifference to pain in multiple human populations

Replication of TPMT and ABCC3 Genetic Variants Highly Associated With Cisplatin-Induced Hearing Loss in Children

Pharmacogenetics of Neonatal Opioid Toxicity Following Maternal Use of Codeine During Breastfeeding: A Case-Control Study

A human huntingtin SNP alters post-translational modification and pathogenic proteolysis of the protein causing Huntington disease

Chemical trends in the Galactic halo from APOGEE data

Evidence-based genetic counselling implications for Huntington disease intermediate allele predictive test results

Predictive testing for Huntington disease: interpretation and significance of intermediate alleles

Magnetic resonance spectroscopy biomarkers in premanifest and early Huntington disease

Cholesterol efflux via ATP-binding cassette transporter A1 (ABCA1) and cholesterol uptake via the LDL receptor influences cholesterol-induced impairment of beta cell function in mice

Loss of Huntingtin-Mediated BDNF Gene Transcription in Huntington's Disease

Ethyl-EPA in Huntington disease: a double-blind, randomized, placebo-controlled trial

Human Mendelian pain disorders: a key to discovery and validation of novel analgesics

Personalized gene silencing therapeutics for Huntington disease

Unstable familial transmissions of Huntington disease alleles with 27-35 CAG repeats (intermediate alleles)

The emerging era of pharmacogenomics: current successes, future potential, and challenges

Specific caspase interactions and amplification are involved in selective neuronal vulnerability in Huntington's disease

What monozygotic twins discordant for phenotype illustrate about mechanisms influencing genetic forms of neurodegeneration

Als2-Deficient Mice Exhibit Disturbances in Endosome Trafficking Associated with Motor Behavioral Abnormalities

Enhanced susceptibility to pancreatitis in severe hypertriglyceridaemic lipoprotein lipase-deficient mice and agonist-like function of pancreatic lipase in pancreatic cells

Clinical markers of early disease in persons near onset of Huntington's disease

Genetic analysis of potassium use efficiency in Brassica oleracea

role of free fatty acids, pancreatic lipase and Ca²⁺ signalling in injury of isolated acinar cells and pancreatitis model in lipoprotein lipase-deficient mice

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