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Inside out: the role of nucleocytoplasmic transport in ALS and FTLD

Acta Neuropathologica, 2016-08, Vol.132 (2), p.159-173

2016

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Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

Nature neuroscience, 2015-09, Vol.18 (9), p.1226-1229

2015

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Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

Molecular cell, 2017-03, Vol.65 (6), p.1044-1055.e5

2017

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Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

Scientific reports, 2016-02, Vol.6 (1), p.20877-20877, Article 20877

2016

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HDAC6 at the Intersection of Neuroprotection and Neurodegeneration

Traffic (Copenhagen, Denmark), 2012-06, Vol.13 (6), p.771-779

2012

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Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

The Journal of cell biology, 2008-04, Vol.181 (1), p.37-41

2008

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Molecular Dissection of FUS Points at Synergistic Effect of Low-Complexity Domains in Toxicity

Cell reports (Cambridge), 2018-07, Vol.24 (3), p.529-537.e4

2018

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Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions

Frontiers in neuroscience, 2022-02, Vol.16, p.815765

2022

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Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

Orphanet journal of rare diseases, 2022-05, Vol.17 (1), p.210-210, Article 210

2022

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Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity

Proceedings of the National Academy of Sciences - PNAS, 2007-09, Vol.104 (37), p.14825-14830

2007

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Novel Role for Vascular Endothelial Growth Factor (VEGF) Receptor-1 and Its Ligand VEGF-B in Motor Neuron Degeneration

The Journal of neuroscience, 2008-10, Vol.28 (42), p.10451-10459

2008

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Neuronal overexpression of IP3 receptor 2 is detrimental in mutant SOD1 mice

Biochemical and biophysical research communications, 2012-12, Vol.429 (3-4), p.210-213

2012

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FUS-induced neurotoxicity in Drosophila is prevented by downregulating nucleocytoplasmic transport proteins

Human molecular genetics, 2018-12, Vol.27 (23), p.4103-4116

2018

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A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

Acta neuropathologica, 2018-03, Vol.135 (3), p.427-443

2018

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C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Acta neuropathologica, 2023-06, Vol.145 (6), p.793-814

2023

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Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism: Possible implication for Alzheimer’s disease

Progress in neurobiology, 2023-04, Vol.223, p.102386-102386, Article 102386

2023

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SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

American journal of human genetics, 2023-05, Vol.110 (5), p.790-808

2023

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VEGF protects motor neurons against excitotoxicity by upregulation of GluR2

Neurobiology of aging, 2010-12, Vol.31 (12), p.2185-2191

2010

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Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

Neurology. Genetics, 2023-06, Vol.9 (3), p.e200071-e200071

2023

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G37R SOD1 mutant alters mitochondrial complex I activity, Ca2+ uptake and ATP production

Cell calcium (Edinburgh), 2011-04, Vol.49 (4), p.217-225

2011

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HDAC 6 at the Intersection of Neuroprotection and Neurodegeneration

Traffic (Copenhagen, Denmark), 2012-06, Vol.13 (6), p.771-779

2012

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G37R SOD1 mutant alters mitochondrial complex I activity, Ca(2+) uptake and ATP production

Cell calcium (Edinburgh), 2011-04, Vol.49 (4), p.217-225

2011

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Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

European journal of human genetics : EJHG, 2009-10, Vol.17 (10), p.1309-1313

2009

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Vascular endothelial growth factor in amyotrophic lateral sclerosis and other neurodegenerative diseases

Muscle & nerve, 2006-10, Vol.34 (4), p.391-405

2006

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Inside out: the role of nucleocytoplasmic transport in ALS and FTLD

Modifiers of C9orf72 dipeptide repeat toxicity connect nucleocytoplasmic transport defects to FTD/ALS

Phase Separation of C9orf72 Dipeptide Repeats Perturbs Stress Granule Dynamics

Drosophila screen connects nuclear transport genes to DPR pathology in c9ALS/FTD

HDAC6 at the Intersection of Neuroprotection and Neurodegeneration

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

Molecular Dissection of FUS Points at Synergistic Effect of Low-Complexity Domains in Toxicity

Expanding the TDP-43 Proteinopathy Pathway From Neurons to Muscle: Physiological and Pathophysiological Functions

Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

Astrocytes regulate GluR2 expression in motor neurons and their vulnerability to excitotoxicity

Novel Role for Vascular Endothelial Growth Factor (VEGF) Receptor-1 and Its Ligand VEGF-B in Motor Neuron Degeneration

Neuronal overexpression of IP3 receptor 2 is detrimental in mutant SOD1 mice

FUS-induced neurotoxicity in Drosophila is prevented by downregulating nucleocytoplasmic transport proteins

A zebrafish model for C9orf72 ALS reveals RNA toxicity as a pathogenic mechanism

Loss of phospholipase PLAAT3 causes a mixed lipodystrophic and neurological syndrome due to impaired PPARγ signaling

C-terminal frameshift variant of TDP-43 with pronounced aggregation-propensity causes rimmed vacuole myopathy but not ALS/FTD

Tau promotes oxidative stress-associated cycling neurons in S phase as a pro-survival mechanism: Possible implication for Alzheimer’s disease

SRSF1 haploinsufficiency is responsible for a syndromic developmental disorder associated with intellectual disability

VEGF protects motor neurons against excitotoxicity by upregulation of GluR2

Exome Sequencing and Multigene Panel Testing in 1,411 Patients With Adult-Onset Neurologic Disorders

G37R SOD1 mutant alters mitochondrial complex I activity, Ca2+ uptake and ATP production

HDAC 6 at the Intersection of Neuroprotection and Neurodegeneration

G37R SOD1 mutant alters mitochondrial complex I activity, Ca(2+) uptake and ATP production

Replication analysis identifies TYK2 as a multiple sclerosis susceptibility factor

Vascular endothelial growth factor in amyotrophic lateral sclerosis and other neurodegenerative diseases

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