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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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Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

Journal of neurology, neurosurgery and psychiatry, 2009-12, Vol.80 (12), p.1402-1404

2009

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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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PIK3R1 mutations in SHORT syndrome

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

2014

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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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Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1

Cell death & disease, 2014-04, Vol.5 (4), p.e1180-e1180

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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Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

Human molecular genetics, 2013-02, Vol.22 (3), p.508-518

2013

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Transgenic rat model of Huntington's disease

Human molecular genetics, 2003-03, Vol.12 (6), p.617-624

2003

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Overexpression of human wildtype torsinA and human ΔGAG 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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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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Genetic panel sequencing for advanced stage cancer disease in the clinic

Annals of oncology, 2017-10, Vol.28, p.vii17-vii17

2017

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Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

Clinical genetics, 2011-08, Vol.80 (2), p.148-160

2011

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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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Novel SLC9A6 mutations in two families with Christianson syndrome

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

2013

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Behavioral and in vivo electrophysiological evidence for presymptomatic alteration of prefrontostriatal processing in the transgenic rat model for huntington disease

The Journal of neuroscience, 2011-06, Vol.31 (24), p.8986-8997

2011

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Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)

Journal of neurology, neurosurgery and psychiatry, 2008-12, Vol.79 (12), p.1327-1330

2008

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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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B05 New Light On The Role Of Calpain-mediated Proteolysis Of Mutant Huntingtin

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A10-A10

2014

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B21 Characterisation Of Mice Overexpressing Mutant Huntingtin Lacking The Spine Morphogenesis Regulator Kalirin-7

Journal of neurology, neurosurgery and psychiatry, 2014-09, Vol.85 (Suppl 1), p.A16-A16

2014

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

Frequency and phenotype of SPG11 and SPG15 in complicated hereditary spastic paraplegia

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

PIK3R1 mutations in SHORT syndrome

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

Mitochondrial proteolytic stress induced by loss of mortalin function is rescued by Parkin and PINK1

The Undiagnosed Diseases Network International: Five years and more

Calpain-mediated ataxin-3 cleavage in the molecular pathogenesis of spinocerebellar ataxia type 3 (SCA3)

Transgenic rat model of Huntington's disease

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

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

Genetic panel sequencing for advanced stage cancer disease in the clinic

Amplicon-based high-throughput pooled sequencing identifies mutations in CYP7B1 and SPG7 in sporadic spastic paraplegia patients

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

Novel SLC9A6 mutations in two families with Christianson syndrome

Behavioral and in vivo electrophysiological evidence for presymptomatic alteration of prefrontostriatal processing in the transgenic rat model for huntington disease

Novel TOR1A mutation p.Arg288Gln in early-onset dystonia (DYT1)

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

B05 New Light On The Role Of Calpain-mediated Proteolysis Of Mutant Huntingtin

B21 Characterisation Of Mice Overexpressing Mutant Huntingtin Lacking The Spine Morphogenesis Regulator Kalirin-7

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

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