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CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability

Brain (London, England : 1878), 2022-10, Vol.145 (10), p.3415-3430

2022

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RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

Nucleic acids research, 2017-01, Vol.45 (1), p.395

2017

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The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy

Neuron (Cambridge, Mass.), 2017-01, Vol.93 (1), p.66-79

2017

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Astrocyte-produced miR-146a as a mediator of motor neuron loss in spinal muscular atrophy

Human molecular genetics, 2017-09, Vol.26 (17), p.3409-3420

2017

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LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy

Genome research, 2020-08, Vol.30 (8), p.1083

2020

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Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset

Human molecular genetics, 2016-03, Vol.25 (5), p.964-975

2016

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Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape

Human molecular genetics, 2017-10, Vol.26 (R2), p.R151-R159

2017

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Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model

Human molecular genetics, 2018-02, Vol.27 (3), p.486-498

2018

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Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene

PloS one, 2016-04, Vol.11 (4), p.e0154390-e0154390

2016

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Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy

Human molecular genetics, 2016-07, Vol.25 (13), p.2853-2861

2016

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Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

PloS one, 2013-12, Vol.8 (12), p.e83450

2013

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SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease

Seminars in cell & developmental biology, 2014-08, Vol.32, p.22-29

2014

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Engineered 3D vascular and neuronal networks in a microfluidic platform

Scientific reports, 2018-03, Vol.8 (1), p.5168-13, Article 5168

2018

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Endoplasmic Reticulum Stress Signalling Induces Casein Kinase 1-Dependent Formation of Cytosolic TDP-43 Inclusions in Motor Neuron-Like Cells

Neurochemical research, 2020-06, Vol.45 (6), p.1354-1364

2020

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Cardiac pathology in spinal muscular atrophy: a systematic review

Orphanet journal of rare diseases, 2017-04, Vol.12 (1), p.67-67, Article 67

2017

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Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy

Cell research, 2013-03, Vol.23 (3), p.378-393

2013

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Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation

Human molecular genetics, 2013-09, Vol.22 (17), p.3415-3424

2013

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Calpain-Dependent Degradation of Nucleoporins Contributes to Motor Neuron Death in a Mouse Model of Chronic Excitotoxicity

The Journal of neuroscience, 2017-09, Vol.37 (36), p.8830-8844

2017

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A screen for regulators of survival of motor neuron protein levels

Nature chemical biology, 2011-06, Vol.7 (8), p.544

2011

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Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

Nature (London), 2011-10, Vol.478 (7367), p.123-126

2011

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A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy

Nature communications, 2018-07, Vol.9 (1), p.2794-18, Article 2794

2018

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The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy

Human molecular genetics, 2012-06, Vol.21 (12), p.2745-2758

2012

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Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration

PloS one, 2016-12, Vol.11 (12), p.e0167077-e0167077

2016

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Sex-dependent effects of amyloid precursor-like protein 2 in the SOD1-G37R transgenic mouse model of MND

Cellular and molecular life sciences : CMLS, 2021-10, Vol.78 (19-20), p.6605-6630

2021

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Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin‐Releasing Hormone Analog

Stem cells translational medicine, 2016-02, Vol.5 (2), p.152-163

2016

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CHCHD10 and SLP2 control the stability of the PHB complex: a key factor for motor neuron viability

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy

Astrocyte-produced miR-146a as a mediator of motor neuron loss in spinal muscular atrophy

LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy

Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset

Spinal muscular atrophy: antisense oligonucleotide therapy opens the door to an integrated therapeutic landscape

Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model

Oxidative Stress Triggers Body-Wide Skipping of Multiple Exons of the Spinal Muscular Atrophy Gene

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy

Deletion of C9ORF72 results in motor neuron degeneration and stress sensitivity in C. elegans

SMN control of RNP assembly: From post-transcriptional gene regulation to motor neuron disease

Engineered 3D vascular and neuronal networks in a microfluidic platform

Endoplasmic Reticulum Stress Signalling Induces Casein Kinase 1-Dependent Formation of Cytosolic TDP-43 Inclusions in Motor Neuron-Like Cells

Cardiac pathology in spinal muscular atrophy: a systematic review

Recapitulation of spinal motor neuron-specific disease phenotypes in a human cell model of spinal muscular atrophy

Celecoxib increases SMN and survival in a severe spinal muscular atrophy mouse model via p38 pathway activation

Calpain-Dependent Degradation of Nucleoporins Contributes to Motor Neuron Death in a Mouse Model of Chronic Excitotoxicity

A screen for regulators of survival of motor neuron protein levels

Peripheral SMN restoration is essential for long-term rescue of a severe spinal muscular atrophy mouse model

A complex of C9ORF72 and p62 uses arginine methylation to eliminate stress granules by autophagy

The zinc finger protein ZPR1 is a potential modifier of spinal muscular atrophy

Normalization of Patient-Identified Plasma Biomarkers in SMNΔ7 Mice following Postnatal SMN Restoration

Sex-dependent effects of amyloid precursor-like protein 2 in the SOD1-G37R transgenic mouse model of MND

Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin‐Releasing Hormone Analog

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