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Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

Cerebellum (London, England), 2014-04, Vol.13 (2), p.269-302

2014

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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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Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice

Cellular and molecular life sciences : CMLS, 2010-09, Vol.67 (18), p.3173-3186

2010

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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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3.309 THE GUANINE NUCLEOTIDE EXCHANGE FACTOR KALIRIN-7 IS A NOVEL SYNPHILIN-1 INTERACTING PROTEIN

Parkinsonism & related disorders, 2012, Vol.18, p.S221-S221

2012

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Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

Neurology, 1998-12, Vol.51 (6), p.1603-1607

1998

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Specific transcriptional changes in human fetuses with autosomal trisomies

Cytogenetic and genome research, 2007-01, Vol.119 (3-4), p.171-184

2007

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Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers

Neurology, 2001-05, Vol.56 (10), p.1355-1362

2001

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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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14-3-3 proteins in the nervous system

Nature reviews. Neuroscience, 2003-09, Vol.4 (9), p.752-762

2003

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3.002 PD: Genetics

Parkinsonism & related disorders, 2007, Vol.13, p.S147-S147

2007

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3.062 ATAXIN-2 INTERMEDIATE POLYGLUTAMINE EXPANSIONS CONTRIBUTE TO RISK OF ALS AND OF EARLY ONSET HEREDITARY PD

Parkinsonism & related disorders, 2012, Vol.18, p.S184-S184

2012

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Iron in neurodegenerative disorders

Neurotoxicity research, 2002-01, Vol.4 (7-8), p.637-653

2002

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Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity

Journal of Neural Transmission, 2008-07, Vol.115 (7), p.941-958

2008

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A41 Olfactory bulb atrophy and caspase activation observed early in the bachd transgenic lines

Journal of neurology, neurosurgery and psychiatry, 2018-09, Vol.89 (Suppl 1), p.A15

2018

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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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Hereditäre Ataxien

Medizinische Genetik, 2013-06, Vol.102 (2), p.235-248

2013

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B15Dysregulation of Gene Expression in the Striatum of Bachd Rats and Abnormalities Involved on Molecular and Protein Levels

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A14-A14

2014

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B15 Dysregulation of Gene Expression in the Striatum of Bachd Rats and Abnormalities Involved on Molecular and Protein Levels

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A14-A14

2014

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C07 The Influence Of Obesity And Reduced Food Intake On The Behavioural Characterisation Of The Bachd Rat Model Of Huntington Disease

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A27-A27

2014

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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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Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

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

Induction of STAT3-related genes in fast degenerating cone photoreceptors of cpfl1 mice

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

3.309 THE GUANINE NUCLEOTIDE EXCHANGE FACTOR KALIRIN-7 IS A NOVEL SYNPHILIN-1 INTERACTING PROTEIN

Sleep disturbance in spinocerebellar ataxias: is the SCA3 mutation a cause of restless legs syndrome?

Specific transcriptional changes in human fetuses with autosomal trisomies

Familial parkinsonism with synuclein pathology: clinical and PET studies of A30P mutation carriers

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

14-3-3 proteins in the nervous system

3.002 PD: Genetics

3.062 ATAXIN-2 INTERMEDIATE POLYGLUTAMINE EXPANSIONS CONTRIBUTE TO RISK OF ALS AND OF EARLY ONSET HEREDITARY PD

Iron in neurodegenerative disorders

Microarray expression analysis reveals genetic pathways implicated in C621 synphilin-1-mediated toxicity

A41 Olfactory bulb atrophy and caspase activation observed early in the bachd transgenic lines

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

Hereditäre Ataxien

B15Dysregulation of Gene Expression in the Striatum of Bachd Rats and Abnormalities Involved on Molecular and Protein Levels

B15 Dysregulation of Gene Expression in the Striatum of Bachd Rats and Abnormalities Involved on Molecular and Protein Levels

C07 The Influence Of Obesity And Reduced Food Intake On The Behavioural Characterisation Of The Bachd Rat Model Of Huntington Disease

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

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