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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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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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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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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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RNA interference of LRRK2–microarray expression analysis of a Parkinson’s disease key player

Neurogenetics, 2008-05, Vol.9 (2), p.83-94

2008

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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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Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

Human molecular genetics, 2008-04, Vol.17 (8), p.1137-1146

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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The aetiology of sporadic adult-onset ataxia

Brain (London, England : 1878), 2002-05, Vol.125 (5), p.961-968

2002

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Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease

Neurology, 2004-11, Vol.63 (10), p.1912

2004

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DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease

Neurology, 2004-02, Vol.62 (3), p.389

2004

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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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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

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

Consensus Paper: Pathological Mechanisms Underlying Neurodegeneration in Spinocerebellar Ataxias

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

RNA interference of LRRK2–microarray expression analysis of a Parkinson’s disease key player

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)

Huntingtin-associated protein-1 is a modifier of the age-at-onset of Huntington's disease

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

The aetiology of sporadic adult-onset ataxia

Ceruloplasmin gene variations and substantia nigra hyperechogenicity in Parkinson disease

DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease

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

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