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Olfactory bulb atrophy and caspase activation observed in the BACHD rat models of Huntington disease

Neurobiology of disease, 2019-05, Vol.125, p.219-231

2019

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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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Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

Lancet neurology, 2004-05, Vol.3 (5), p.291-304

2004

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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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Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP)

Annals of anatomy, 2009-04, Vol.191 (2), p.203-211

2009

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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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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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Characterization of transgenic mice overexpressing wild type and G399S mutant HtrA2/Omi – Implications for PD

Basal ganglia, 2013-03, Vol.3 (1), p.41-41

2013

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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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The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

American journal of human genetics, 1992-10, Vol.51 (4), p.755-762

1992

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Overexpression of human wildtype torsinA and human GAG torsinA in a transgenic mouse model causes phenotypic abnormalities

Neurobiology of disease, 2007-08, Vol.27 (2), p.190-206

2007

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Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities

Neurobiology of disease, 2007-08, Vol.27 (2), p.190-206

2007

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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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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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Olfactory bulb atrophy and caspase activation observed in the BACHD rat models of Huntington disease

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

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

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

Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP)

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

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

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

Characterization of transgenic mice overexpressing wild type and G399S mutant HtrA2/Omi – Implications for PD

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

The search for mutations in the gene for the beta subunit of the cGMP phosphodiesterase (PDEB) in patients with autosomal recessive retinitis pigmentosa

Overexpression of human wildtype torsinA and human GAG torsinA in a transgenic mouse model causes phenotypic abnormalities

Overexpression of human wildtype torsinA and human DeltaGAG torsinA in a transgenic mouse model causes phenotypic abnormalities

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)

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

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