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Cellular Model of Atherogenesis Based on Pluripotent Vascular Wall Pericytes

Stem cells international, 2016-01, Vol.2016 (1), p.7321404-7321404

2016

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Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

Cell reports (Cambridge), 2013-12, Vol.5 (5), p.1178-1186

2013

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Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

Nature neuroscience, 2011-04, Vol.14 (4), p.452-458

2011

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Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

Journal of cell science, 2014-03, Vol.127 (Pt 6), p.1263-1278

2014

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The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Brain (London, England : 1878), 2016-05, Vol.139 (Pt 5), p.1417-1432

2016

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Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion

Frontiers in cellular neuroscience, 2021-06, Vol.15, p.660693-660693

2021

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ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

Human molecular genetics, 2013-07, Vol.22 (13), p.2676-2688

2013

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C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

Human molecular genetics, 2017-12, Vol.26 (24), p.4765-4777

2017

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Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations

PloS one, 2013-10, Vol.8 (10), p.e76055-e76055

2013

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A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

American journal of human genetics, 2004-11, Vol.75 (5), p.822-831

2004

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Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling

Genes, 2023-05, Vol.14 (5), p.1108

2023

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Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

Stem cell research, 2021-04, Vol.52, p.102246-102246, Article 102246

2021

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Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Acta neuropathologica, 2011-04, Vol.121 (4), p.519-527

2011

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Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells

PloS one, 2014-03, Vol.9 (3), p.e91269

2014

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The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative Medicine

Stem cells international, 2016-01, Vol.2016 (1), p.9279516-9279516

2016

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A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

Human genetics, 2005-12, Vol.118 (3-4), p.499-500

2005

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Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

Brain (London, England : 1878), 2010-06, Vol.133 (6), p.1763-1771

2010

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Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons

Stem cell reports, 2024-02, Vol.19 (2), p.187-195

2024

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A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay

Neurobiology of aging, 2021-10, Vol.106, p.1-6

2021

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C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

Human molecular genetics, 2021-04, Vol.30 (3-4), p.318-320

2021

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Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?

Journal of molecular neuroscience, 2005-01, Vol.27 (2), p.213-218

2005

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Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients

Journal of molecular neuroscience, 2004-01, Vol.22 (3), p.257-260

2004

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Characterising the RNA targets and position-dependent splicing regulation by TDP-43; implications for neurodegenerative diseases

Nature neuroscience, 2011-02, Vol.14 (4), p.452-458

2011

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Cellular Model of Atherogenesis Based on Pluripotent Vascular Wall Pericytes

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

Characterizing the RNA targets and position-dependent splicing regulation by TDP-43

Differential roles of the ubiquitin proteasome system and autophagy in the clearance of soluble and aggregated TDP-43 species

The heat shock response plays an important role in TDP-43 clearance: evidence for dysfunction in amyotrophic lateral sclerosis

Synaptopathy Mechanisms in ALS Caused by C9orf72 Repeat Expansion

ALS mutant FUS disrupts nuclear localization and sequesters wild-type FUS within cytoplasmic stress granules

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

Downregulation of microRNA-9 in iPSC-derived neurons of FTD/ALS patients with TDP-43 mutations

A Mutation in the Vesicle-Trafficking Protein VAPB Causes Late-Onset Spinal Muscular Atrophy and Amyotrophic Lateral Sclerosis

Generation of an Open-Access Patient-Derived iPSC Biobank for Amyotrophic Lateral Sclerosis Disease Modelling

Generation of six induced pluripotent stem cell lines from patients with amyotrophic lateral sclerosis with associated genetic mutations in either FUS or ANXA11

Optineurin inclusions occur in a minority of TDP-43 positive ALS and FTLD-TDP cases and are rarely observed in other neurodegenerative disorders

Allele-specific knockdown of ALS-associated mutant TDP-43 in neural stem cells derived from induced pluripotent stem cells

The Use of Stem Cells to Model Amyotrophic Lateral Sclerosis and Frontotemporal Dementia: From Basic Research to Regenerative Medicine

A common founder for amyotrophic lateral sclerosis type 8 (ALS8) in the Brazilian population

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

Nuclear import impairment causes cytoplasmic trans-activation response DNA-binding protein accumulation and is associated with frontotemporal lobar degeneration

ALS-associated missense and nonsense TBK1 mutations can both cause loss of kinase function

Mutations in FUS lead to synaptic dysregulation in ALS-iPSC derived neurons

A recessive S174X mutation in Optineurin causes amyotrophic lateral sclerosis through a loss of function via allele-specific nonsense-mediated decay

C9orf72 poly GA RAN-translated protein plays a key role in amyotrophic lateral sclerosis via aggregation and toxicity

Monoamine oxidase a polymorphism in Brazilian patients: risk factor for late-onset Alzheimer's disease?

Lack of association between the brain-derived neurotrophin factor (C-270T) polymorphism and late-onset Alzheimer's disease (LOAD) in Brazilian patients

Characterising the RNA targets and position-dependent splicing regulation by TDP-43; implications for neurodegenerative diseases

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