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Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

Neurology, 2012-05, Vol.78 (19), p.1519

2012

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New advances in Amyotrophic Lateral Sclerosis genetics: Towards gene therapy opportunities for familial and young cases

Revue neurologique, 2021-05, Vol.177 (5), p.524-535

2021

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Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient

Journal of neurology, neurosurgery and psychiatry, 2011-12, Vol.82 (12), p.1414-1416

2011

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Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

Journal of neurology, neurosurgery and psychiatry, 2024-03, Vol.95 (3), p.288

2024

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Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Nature communications, 2023-12, Vol.14 (1), p.8026-8026, Article 8026

2023

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Efficient gene transfer and long-term expression in neurons using a recombinant adenovirus with a neuron-specific promoter

Gene therapy, 1999-11, Vol.6 (11), p.1884-1892

1999

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1-methyl-4-phenylpyridinium neurotoxicity is attenuated by adenoviral gene transfer of human Cu/Zn superoxide dismutase

Journal of neuroscience research, 2006-02, Vol.83 (2), p.233-242

2006

Volltextzugriff (PDF)

Alsin is partially associated with centrosome in human cells

Biochimica et biophysica acta, 2005-08, Vol.1745 (1), p.84-100

2005

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Overexpression of Glutathione Peroxidase Increases the Resistance of Neuronal Cells to Aβ‐Mediated Neurotoxicity

Journal of neurochemistry, 2000-10, Vol.75 (4), p.1438-1446

2000

Volltextzugriff (PDF)

Nouveau phénotype autosomique récessif de maladie avec inclusions intranucléaires associant pseudo-AVC, démence et leucoencéphalopathie

Revue neurologique, 2012-01, Vol.168, p.S11-S12

2012

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Neuronal transfer of the human Cu/Zn superoxide dismutase gene increases the resistance of dopaminergic neurons to 6‐hydroxydopamine

Journal of neurochemistry, 2002-07, Vol.82 (1), p.101-109

2002

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Adenoviral retrograde gene transfer in motoneurons is greatly enhanced by prior intramuscular inoculation with botulinum toxin

Human gene therapy, 2002-01, Vol.13 (2), p.225-232

2002

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Synaptic Sprouting Increases the Uptake Capacities of Motoneurons in Amyotrophic Lateral Sclerosis Mice

Proceedings of the National Academy of Sciences - PNAS, 2001-06, Vol.98 (13), p.7582-7587

2001

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Phénotype des SLA avec mutation TDP-43 : Analyse d’une série française de 28 cas et revue de la littérature

Revue neurologique, 2011, Vol.167, p.S17-S17

2011

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Neuron-restrictive silencer elements mediate neuron specificity of adenoviral gene expression

Nature biotechnology, 1999-09, Vol.17 (9), p.865-869

1999

Volltextzugriff (PDF)

An efficient strategy for detection of known and new mutations of the CYP2D6 gene using single strand conformation polymorphism analysis

Pharmacogenetics (London), 1995-12, Vol.5 (6), p.373-384

1995

Volltextzugriff (PDF)

Overexpression of glutathione peroxidase increases the resistance of neuronal cells to Abeta-mediated neurotoxicity

Journal of neurochemistry, 2000-10, Vol.75 (4), p.1438

2000

Volltextzugriff (PDF)

Axonal transport deficits and neurodegenerative diseases

Nature reviews. Neuroscience, 2013-03, Vol.14 (3), p.161-176

2013

Volltextzugriff (PDF)

Modifying macrophages at the periphery has the capacity to change microglial reactivity and to extend ALS survival

Nature neuroscience, 2020-11, Vol.23 (11), p.1339

2020

Volltextzugriff (PDF)

Oxidation of SQSTM1/p62 mediates the link between redox state and protein homeostasis

Nature communications, 2018-01, Vol.9 (1), p.256-11, Article 256

2018

Volltextzugriff (PDF)

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

Acta neuropathologica, 2013-04, Vol.125 (4), p.511-522

2013

Volltextzugriff (PDF)

EVolution in ALS diagnosis: molecular markers in extracellular vesicles

Trends in molecular medicine, 2024-07

2024

Volltextzugriff (PDF)

Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells

Brain (London, England : 1878), 2023-09, Vol.146 (9), p.3624-3633

2023

Volltextzugriff (PDF)

Peripheral nerve injury is associated with chronic, reversible changes in global DNA methylation in the mouse prefrontal cortex

PloS one, 2013-01, Vol.8 (1), p.e55259

2013

Volltextzugriff (PDF)

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SOD1, ANG, VAPB, TARDBP, and FUS mutations in familial amyotrophic lateral sclerosis: genotype–phenotype correlations

Phenotype and genotype analysis in amyotrophic lateral sclerosis with TARDBP gene mutations

New advances in Amyotrophic Lateral Sclerosis genetics: Towards gene therapy opportunities for familial and young cases

Abnormal TDP-43 and FUS proteins in muscles of sporadic IBM: similarities in a TARDBP-linked ALS patient

Heterozygous SPTLC1 p.Leu39del is a major cause of slow-progressing juvenile ALS

Author Correction: Integrative genetic analysis illuminates ALS heritability and identifies risk genes

Efficient gene transfer and long-term expression in neurons using a recombinant adenovirus with a neuron-specific promoter

1-methyl-4-phenylpyridinium neurotoxicity is attenuated by adenoviral gene transfer of human Cu/Zn superoxide dismutase

Alsin is partially associated with centrosome in human cells

Overexpression of Glutathione Peroxidase Increases the Resistance of Neuronal Cells to Aβ‐Mediated Neurotoxicity

Nouveau phénotype autosomique récessif de maladie avec inclusions intranucléaires associant pseudo-AVC, démence et leucoencéphalopathie

Neuronal transfer of the human Cu/Zn superoxide dismutase gene increases the resistance of dopaminergic neurons to 6‐hydroxydopamine

Adenoviral retrograde gene transfer in motoneurons is greatly enhanced by prior intramuscular inoculation with botulinum toxin

Synaptic Sprouting Increases the Uptake Capacities of Motoneurons in Amyotrophic Lateral Sclerosis Mice

Phénotype des SLA avec mutation TDP-43 : Analyse d’une série française de 28 cas et revue de la littérature

Neuron-restrictive silencer elements mediate neuron specificity of adenoviral gene expression

An efficient strategy for detection of known and new mutations of the CYP2D6 gene using single strand conformation polymorphism analysis

Overexpression of glutathione peroxidase increases the resistance of neuronal cells to Abeta-mediated neurotoxicity

Axonal transport deficits and neurodegenerative diseases

Modifying macrophages at the periphery has the capacity to change microglial reactivity and to extend ALS survival

Oxidation of SQSTM1/p62 mediates the link between redox state and protein homeostasis

Mutations in SQSTM1 encoding p62 in amyotrophic lateral sclerosis: genetics and neuropathology

EVolution in ALS diagnosis: molecular markers in extracellular vesicles

Transactive response DNA-binding protein 43 is enriched at the centrosome in human cells

Peripheral nerve injury is associated with chronic, reversible changes in global DNA methylation in the mouse prefrontal cortex

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