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CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56

Human mutation, 2018-01, Vol.39 (1), p.140-151

2018

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Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

American journal of human genetics, 2014-02, Vol.94 (2), p.268-277

2014

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Interferon beta induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice

Brain (London, England : 1878), 2013-06, Vol.136 (Pt 6), p.1732-1745

2013

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Prokineticin 2 expression is associated with neural repair of injured adult zebrafish telencephalon

Journal of neurotrauma, 2010-05, Vol.27 (5), p.959-972

2010

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KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

European journal of human genetics : EJHG, 2012-06, Vol.20 (6), p.645-649

2012

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Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

Brain (London, England : 1878), 2016-06, Vol.139 (Pt 6), p.1723-1734

2016

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NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia

Brain (London, England : 1878), 2022-05, Vol.145 (4), p.1519-1534

2022

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Implication of folate deficiency in CYP2U1 loss of function

The Journal of experimental medicine, 2021-11, Vol.218 (11)

2021

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Developmental cell death is enhanced in the cerebral cortex of mice lacking the brain vesicular monoamine transporter

The Journal of neuroscience, 2007-02, Vol.27 (6), p.1315-1324

2007

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PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases

Neurobiology of disease, 2003-08, Vol.13 (3), p.230-237

2003

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Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

American journal of human genetics, 2012-12, Vol.91 (6), p.1051-1064

2012

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Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity

Molecular and cellular neuroscience, 2006-03, Vol.31 (3), p.438-445

2006

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Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content

Brain (London, England : 1878), 2002-07, Vol.125 (7), p.1534-1543

2002

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FE65 in Alzheimer's Disease : Neuronal Distribution and Association with Neurofibrillary Tangles

The American journal of pathology, 2001-05, Vol.158 (5), p.1585-1591

2001

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Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation

Archives of neurology (Chicago), 2004-08, Vol.61 (8), p.1314

2004

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P3-176 Lipid rafts, GM1 and Aβ deposits in Alzheimer disease

Neurobiology of aging, 2004-07, Vol.25, p.S406-S406

2004

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O1-01-05 Aβ peptide and C-terminal fragment of APP in multivesicular bodies in APP and APPxPS1 transgenic mice. Possible involvement of exosomes in the pathogenesis of senile plaques

Neurobiology of aging, 2004-07, Vol.25, p.S10-S10

2004

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FE65 in Alzheimer’s Disease

The American journal of pathology, 2001-05, Vol.158 (5), p.1585-1591

2001

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Subcellular Topography of Neuronal Aβ Peptide in APPxPS1 Transgenic Mice

The American journal of pathology, 2004-11, Vol.165 (5), p.1465-1477

2004

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Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Neurology, 2014-03, Vol.82 (12), p.1068-1075

2014

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Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene

Brain (London, England : 1878), 1999-12, Vol.122 (12), p.2375-2386

1999

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Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions

Acta neuropathologica, 2004-07, Vol.108 (1), p.81-87

2004

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Modifications of Oligodendroglial Cells in Spongiform Encephalopathies

Experimental neurology, 1998-11, Vol.154 (1), p.23-30

1998

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Relationship between non-fibrillary amyloid precursors and cell processes in the cortical neuropil of Alzheimer patients

Neuroscience letters, 1991-08, Vol.129 (1), p.119-122

1991

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Ontologies in Amine Platform: Structures and Processes

Conceptual Structures: Inspiration and Application, 2006, p.300-313

2006

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CYP2U1 activity is altered by missense mutations in hereditary spastic paraplegia 56

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

Interferon beta induces clearance of mutant ataxin 7 and improves locomotion in SCA7 knock-in mice

Prokineticin 2 expression is associated with neural repair of injured adult zebrafish telencephalon

KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations

Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions

NPTX1 mutations trigger endoplasmic reticulum stress and cause autosomal dominant cerebellar ataxia

Implication of folate deficiency in CYP2U1 loss of function

Developmental cell death is enhanced in the cerebral cortex of mice lacking the brain vesicular monoamine transporter

PML nuclear bodies and neuronal intranuclear inclusion in polyglutamine diseases

Alteration of Fatty-Acid-Metabolizing Enzymes Affects Mitochondrial Form and Function in Hereditary Spastic Paraplegia

Polyglutamine and polyalanine expansions in ataxin7 result in different types of aggregation and levels of toxicity

Two populations of neuronal intranuclear inclusions in SCA7 differ in size and promyelocytic leukaemia protein content

FE65 in Alzheimer's Disease : Neuronal Distribution and Association with Neurofibrillary Tangles

Behavioral disorder, dementia, ataxia, and rigidity in a large family with TATA box-binding protein mutation

P3-176 Lipid rafts, GM1 and Aβ deposits in Alzheimer disease

O1-01-05 Aβ peptide and C-terminal fragment of APP in multivesicular bodies in APP and APPxPS1 transgenic mice. Possible involvement of exosomes in the pathogenesis of senile plaques

FE65 in Alzheimer’s Disease

Subcellular Topography of Neuronal Aβ Peptide in APPxPS1 Transgenic Mice

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria

Prominent psychiatric features and early onset in an inherited prion disease with a new insertional mutation in the prion protein gene

Amyotrophic lateral sclerosis with neuronal intranuclear protein inclusions

Modifications of Oligodendroglial Cells in Spongiform Encephalopathies

Relationship between non-fibrillary amyloid precursors and cell processes in the cortical neuropil of Alzheimer patients

Ontologies in Amine Platform: Structures and Processes

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