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EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

European journal of neurology, 2014-04, Vol.21 (4), p.552-562

2014

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PIK3R1 mutations in SHORT syndrome

Clinical genetics, 2014-09, Vol.86 (3), p.292-294

2014

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A behavioral comparison of the common laboratory rat strains Lister Hooded, Lewis, Fischer 344 and Wistar in an automated homecage system

Genes, brain and behavior, 2014-03, Vol.13 (3), p.305-321

2014

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Novel SLC9A6 mutations in two families with Christianson syndrome

Clinical genetics, 2013-06, Vol.83 (6), p.596-597

2013

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Lactotransferrin Gene (LTF) Polymorphisms and Dental Implant Loss: A Case‐Control Association Study

Clinical implant dentistry and related research, 2018-10, Vol.20 (5), p.902-902

2018

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Genotype-phenotype relationships in hepatocellular tumors from mice and man

Hepatology (Baltimore, Md.), 2005-08, Vol.42 (2), p.353

2005

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Specification of 14-3-3 proteins in Lewy bodies

Annals of neurology, 2003-07, Vol.54 (1), p.135-135

2003

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Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients

Human mutation, 2004-05, Vol.23 (5), p.525-525

2004

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An Isoform of Ataxin-3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients

Brain pathology (Zurich, Switzerland), 1998-10, Vol.8 (4), p.669-679

1998

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Autosomal dominant Parkinson’s disease in a large German pedigree: Autosomal late-onset Parkinson′s disease

Acta neurologica Scandinavica, 2012-08, Vol.126 (2), p.129-137

2012

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Cellular and subcellular localization of Huntingtin aggregates in the brain of a rat transgenic for Huntington disease

Journal of comparative neurology (1911), 2007-05, Vol.502 (3), p.483-483

2007

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Regional and subtype selective changes of neurotransmitter receptor density in a rat transgenic for the Huntington's disease mutation

Journal of neurochemistry, 2005-08, Vol.94 (4), p.1167-1167

2005

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The R98Q variation in DJ-1 represents a rare polymorphism

Annals of neurology, 2004-01, Vol.55 (1), p.145-145

2004

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Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families

Clinical genetics, 1989-08, Vol.36 (2), p.117-121

1989

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Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA

Proteomics. Clinical applications, 2008-05, Vol.2 (5), p.720-736

2008

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Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

Annals of neurology, 2002-05, Vol.51 (5), p.662-662

2002

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EARLY ONSET BEHAVIORAL AND MOLECULAR CHANGES IN TRANSGENIC MODELS FOR HUNTINGTON'S DISEASE: REVERSAL BY HDACI

JOURNAL OF NEUROCHEMISTRY, 2011, Vol.118, p.254

2011

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Introduction of genomic diagnosis of classical phenylketonuria to the health care system of the German Democratic Republic

Clinical genetics, 1987-10, Vol.32 (4), p.209-215

1987

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The dopamine D2 receptor (DRD2) gene-a genetic risk factor in heavy smoking?

Addiction biology, 2000-10, Vol.5 (4), p.429-436

2000

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Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis

Prenatal diagnosis, 1986-11, Vol.6 (6), p.447-450

1986

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Indirect DNA/gene diagnoses via electrophoresis - an obsolete principle?

Electrophoresis, 1995, Vol.16 (1), p.683-690

1995

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High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome

American journal of medical genetics, 1997-09, Vol.71 (4), p.453-457

1997

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Hybridization and polymerase chain reaction amplification of simple repeated DNA sequences for the analysis of forensic stains

Electrophoresis, 1991, Vol.12 (2-3), p.181-186

1991

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Simple repetitive (GAA)n loci in the human genome

Electrophoresis, 1993, Vol.14 (1), p.973-977

1993

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Novel SLC9A6 mutations in two families with Christianson syndrome

Clinical genetics, 2013, Vol.83 (6), p.596-597

2013

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EFNS/ENS Consensus on the diagnosis and management of chronic ataxias in adulthood

PIK3R1 mutations in SHORT syndrome

A behavioral comparison of the common laboratory rat strains Lister Hooded, Lewis, Fischer 344 and Wistar in an automated homecage system

Novel SLC9A6 mutations in two families with Christianson syndrome

Lactotransferrin Gene (LTF) Polymorphisms and Dental Implant Loss: A Case‐Control Association Study

Genotype-phenotype relationships in hepatocellular tumors from mice and man

Specification of 14-3-3 proteins in Lewy bodies

Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients

An Isoform of Ataxin-3 Accumulates in the Nucleus of Neuronal Cells in Affected Brain Regions of SCA3 Patients

Autosomal dominant Parkinson’s disease in a large German pedigree: Autosomal late-onset Parkinson′s disease

Cellular and subcellular localization of Huntingtin aggregates in the brain of a rat transgenic for Huntington disease

Regional and subtype selective changes of neurotransmitter receptor density in a rat transgenic for the Huntington's disease mutation

The R98Q variation in DJ-1 represents a rare polymorphism

Haplotype analysis of the phenylalanine hydroxylase gene in Turkish phenylketonuria families

Gene expression changes in a transgenic mouse model overexpressing human wildtype and mutant torsinA

Trinucleotide repeat expansions in the junctophilin-3 gene are not found in caucasian patients with a huntington's disease-like phenotype

EARLY ONSET BEHAVIORAL AND MOLECULAR CHANGES IN TRANSGENIC MODELS FOR HUNTINGTON'S DISEASE: REVERSAL BY HDACI

Introduction of genomic diagnosis of classical phenylketonuria to the health care system of the German Democratic Republic

The dopamine D2 receptor (DRD2) gene-a genetic risk factor in heavy smoking?

Prenatal diagnosis of classical phenylketonuria by linked restriction fragment length polymorphism analysis

Indirect DNA/gene diagnoses via electrophoresis - an obsolete principle?

High resolution characterization of an interstitial deletion of less than 1.9 Mb at 4p16.3 associated with Wolf-Hirschhorn syndrome

Hybridization and polymerase chain reaction amplification of simple repeated DNA sequences for the analysis of forensic stains

Simple repetitive (GAA)n loci in the human genome

Novel SLC9A6 mutations in two families with Christianson syndrome

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