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The Undiagnosed Diseases Network International: Five years and more

Molecular genetics and metabolism, 2020-04, Vol.129 (4), p.243-254

2020

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EP-1074: Circulating cell free DNA: dynamics in patients with head and neck cancer during radiochemotherapy

Radiotherapy and oncology, 2016-04, Vol.119, p.S516-S517

2016

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Impaired olfactory bulb neurogenesis depends on the presence of human wild-type alpha-synuclein

Neuroscience, 2012-10, Vol.222, p.343-355

2012

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Metabolic and Type 1 cannabinoid receptor imaging of a transgenic rat model in the early phase of Huntington disease

Experimental neurology, 2011-06, Vol.229 (2), p.440-449

2011

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Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S298-S298

2015

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NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S298-S299

2015

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Analysis of Mitochondrial Targeting Sequence and Coding Region Polymorphisms of the Manganese Superoxide Dismutase Gene in German Parkinson Disease Patients

Biochemical and biophysical research communications, 1999-02, Vol.255 (3), p.749-752

1999

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LRRK2 guides the actin cytoskeleton at growth cones together with ARHGEF7 and Tropomyosin 4

Biochimica et biophysica acta, 2013-12, Vol.1832 (12), p.2352-2367

2013

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APPLICATION OF NEXT GENERATION TECHNOLOGIES

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S146-S147

2021

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APPLICATION OF NEXT GENERATION TECHNOLOGIES: EP.319 The Treatabolome flags treatable genes and variants: an emerging concept

Neuromuscular disorders : NMD, 2021-10, Vol.31, p.S146-S147

2021

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Normal sensitivity to excitotoxicity in a transgenic Huntington's disease rat

Brain research bulletin, 2006-04, Vol.69 (3), p.306-310

2006

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G.P.376 - Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S298-S298

2015

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Blood level of brain-derived neurotrophic factor mRNA is progressively reduced in rodent models of Huntington's disease: Restoration by the neuroprotective compound CEP-1347

Molecular and cellular neuroscience, 2008-09, Vol.39 (1), p.1-7

2008

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Microarray expression analysis of gad mice implicates involvement of Parkinson's disease associated UCH-L1 in multiple metabolic pathways

Brain research. Molecular brain research., 2004-07, Vol.126 (1), p.88-97

2004

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G.P.377 - NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Neuromuscular disorders : NMD, 2015-10, Vol.25, p.S298-S299

2015

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Microarray expression analysis of human dopaminergic neuroblastoma cells after RNA interference of SNCA — A key player in the pathogenesis of Parkinson's disease

Brain research, 2009-02, Vol.1256, p.19-33

2009

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Parkinson's disease: one biochemical pathway to fit all genes?

Trends in Molecular Medicine, 2002-05, Vol.8 (5), p.236-240

2002

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Characterization of the Gene for Human Neutrophil-Activating Peptide 78 (ENA-78)

Biochemical and biophysical research communications, 1994-11, Vol.205 (1), p.612-617

1994

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Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra

Neuroscience letters, 2003-11, Vol.352 (1), p.53-56

2003

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Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson’s disease

Brain research, 2002-09, Vol.951 (1), p.82-86

2002

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14-3-3 protein is a component of Lewy bodies in Parkinson’s disease—Mutation analysis and association studies of 14-3-3 eta

Brain research. Molecular brain research., 2002-12, Vol.108 (1), p.33-39

2002

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Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I

Gene, 1996-06, Vol.171 (2), p.285-290

1996

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Generation of new mouse models for Spinocerebellar Ataxia Type 3 with either a nuclear import signal (NLS) or a nuclear export signal (NES)

EUROPEAN JOURNAL OF CELL BIOLOGY, 2004, Vol.83, p.89

2004

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Functional characterization of the human Huntington’s disease gene promoter

Brain research. Molecular brain research., 2001-08, Vol.92 (1), p.85-97

2001

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The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy

Epilepsy research, 1998-01, Vol.29 (2), p.115-122

1998

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The Undiagnosed Diseases Network International: Five years and more

EP-1074: Circulating cell free DNA: dynamics in patients with head and neck cancer during radiochemotherapy

Impaired olfactory bulb neurogenesis depends on the presence of human wild-type alpha-synuclein

Metabolic and Type 1 cannabinoid receptor imaging of a transgenic rat model in the early phase of Huntington disease

Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease

NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Analysis of Mitochondrial Targeting Sequence and Coding Region Polymorphisms of the Manganese Superoxide Dismutase Gene in German Parkinson Disease Patients

LRRK2 guides the actin cytoskeleton at growth cones together with ARHGEF7 and Tropomyosin 4

APPLICATION OF NEXT GENERATION TECHNOLOGIES

APPLICATION OF NEXT GENERATION TECHNOLOGIES: EP.319 The Treatabolome flags treatable genes and variants: an emerging concept

Normal sensitivity to excitotoxicity in a transgenic Huntington's disease rat

G.P.376 - Collaboration in NeurOmics: Enabling effective data-sharing and maximising impact in neuromuscular disease

Blood level of brain-derived neurotrophic factor mRNA is progressively reduced in rodent models of Huntington's disease: Restoration by the neuroprotective compound CEP-1347

Microarray expression analysis of gad mice implicates involvement of Parkinson's disease associated UCH-L1 in multiple metabolic pathways

G.P.377 - NeurOmics: EU-funded-omics research for diagnosis and therapy in rare neuromuscular and neurodegenerative diseases

Microarray expression analysis of human dopaminergic neuroblastoma cells after RNA interference of SNCA — A key player in the pathogenesis of Parkinson's disease

Parkinson's disease: one biochemical pathway to fit all genes?

Characterization of the Gene for Human Neutrophil-Activating Peptide 78 (ENA-78)

Screening for mutations of the ferritin light and heavy genes in Parkinson's disease patients with hyperechogenicity of the substantia nigra

Neurofilament L gene is not a genetic factor of sporadic and familial Parkinson’s disease

14-3-3 protein is a component of Lewy bodies in Parkinson’s disease—Mutation analysis and association studies of 14-3-3 eta

Cloning, sequencing and functional studies of the gene encoding human GTP cyclohydrolase I

Generation of new mouse models for Spinocerebellar Ataxia Type 3 with either a nuclear import signal (NLS) or a nuclear export signal (NES)

Functional characterization of the human Huntington’s disease gene promoter

The gene encoding the alpha1A-voltage-dependent calcium channel (CACN1A4) is not a candidate for causing common subtypes of idiopathic generalized epilepsy

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