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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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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: 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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APPLICATION OF NEXT GENERATION TECHNOLOGIES

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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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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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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The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis

Molecular genetics and metabolism, 2005-05, Vol.85 (1), p.12-20

2005

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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 human β-subunit of rod photoreceptor cGMP phosphodiesterase: Complete retinal cDNA sequence and evidence for expression in brain

Genomics (San Diego, Calif.), 1992-07, Vol.13 (3), p.698-704

1992

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Precise Mapping of the Brain α2-Adrenergic Receptor Gene within Chromosome 4p16

Genomics (San Diego, Calif.), 1994-01, Vol.19 (2), p.298-302

1994

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Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene

Genomics (San Diego, Calif.), 1991-12, Vol.11 (4), p.1113-1124

1991

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Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16

Genomics (San Diego, Calif.), 1994-01, Vol.19 (2), p.298-302

1994

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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

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

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

APPLICATION OF NEXT GENERATION TECHNOLOGIES

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

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

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

The pathogenesis of molybdenum cofactor deficiency, its delay by maternal clearance, and its expression pattern in microarray analysis

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

The human β-subunit of rod photoreceptor cGMP phosphodiesterase: Complete retinal cDNA sequence and evidence for expression in brain

Precise Mapping of the Brain α2-Adrenergic Receptor Gene within Chromosome 4p16

Identification of multiple CpG islands and associated conserved sequences in a candidate region for the Huntington disease gene

Precise mapping of the brain alpha 2-adrenergic receptor gene within chromosome 4p16

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