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Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo

Gene therapy, 2023-12, Vol.30 (12), p.812-825

2023

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Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary

Cells (Basel, Switzerland), 2022-12, Vol.11 (24), p.4065

2022

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Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Have Reduced Expression of Proteins Important in Neuronal Development

Frontiers in cellular neuroscience, 2016-01, Vol.9, p.506-506

2016

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Cross-Reactivity between Schistosoma mansoni Antigens and the Latex Allergen Hev b 7: Putative Implication of Cross-Reactive Carbohydrate Determinants (CCDs)

PloS one, 2016-07, Vol.11 (7), p.e0159542-e0159542

2016

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Two independent proteomic approaches provide a comprehensive analysis of the synovial fluid proteome response to Autologous Chondrocyte Implantation

Arthritis research & therapy, 2018-05, Vol.20 (1), p.87-87, Article 87

2018

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Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy

Neuroscience insights, 2020, Vol.15, p.2633105520914301-2633105520914301

2020

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Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia

Biomolecules (Basel, Switzerland), 2024-03, Vol.14 (3), p.302

2024

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The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap

Cells (Basel, Switzerland), 2022-08, Vol.11 (17), p.2624

2022

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An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs

BMC molecular and cell biology, 2020-12, Vol.21 (1), p.88-88, Article 88

2020

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Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA)

Brain sciences, 2018-12, Vol.8 (12), p.212

2018

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Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells

Neuromuscular disorders : NMD, 2024-05, Vol.38, p.26-41

2024

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Contaminants in commercial preparations of 'purified' small leucine-rich proteoglycans may distort mechanistic studies

Bioscience reports, 2017-02, Vol.37 (1)

2017

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A Meta-summary and Bioinformatic Analysis Identified Interleukin 6 as a Master Regulator of COVID-19 Severity Biomarkers

Cytokine (Philadelphia, Pa.), 2022-11, Vol.159, p.156011-156011, Article 156011

2022

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A Systematic Review and Meta-Analysis of the Effectiveness of Surgical Decompression in Treating Patients with Malignant Middle Cerebral Artery Infarction

World neurosurgery, 2018-12, Vol.120, p.e902-e920

2018

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Gene expression profiling of the dorsolateral and medial orbitofrontal cortex in schizophrenia

Translational neuroscience, 2016-01, Vol.7 (1), p.139-150

2016

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Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

The Journal of clinical investigation, 2014-04, Vol.124 (4), p.1821-1834

2014

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Commonality amid diversity: multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy

Neuromuscular disorders : NMD, 2016-09, Vol.26 (9), p.560-569

2016

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AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/− spinal muscular atrophy mice

Human molecular genetics, 2023-10, Vol.32 (20), p.2950-2965

2023

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Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy

Neuromuscular disorders : NMD, 2020-06, Vol.30 (6), p.443-456

2020

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Investigation of the blood proteome in response to spinal cord injury in rodent models

Spinal cord, 2022-04, Vol.60 (4), p.320-325

2022

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Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle

Scientific reports, 2019-10, Vol.9 (1), p.14202-12, Article 14202

2019

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Quantitative proteomic profiling of the rat substantia nigra places glial fibrillary acidic protein at the hub of proteins dysregulated during aging: Implications for idiopathic Parkinson's disease

Journal of neuroscience research, 2020-07, Vol.98 (7), p.1417-1432

2020

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Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy

Human molecular genetics, 2019-11, Vol.28 (21), p.3515-3527

2019

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Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo

Scientific reports, 2017-09, Vol.7 (1), p.12412-18, Article 12412

2017

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Anti-epileptic drugs and bone loss: phenytoin reduces pro-collagen I and alters the electrophoretic mobility of osteonectin in cultured bone cells

Epilepsy research, 2016-05, Vol.122, p.97-101

2016

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Enhanced expression of the human Survival motor neuron 1 gene from a codon-optimised cDNA transgene in vitro and in vivo

Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary

Spinal Muscular Atrophy Patient iPSC-Derived Motor Neurons Have Reduced Expression of Proteins Important in Neuronal Development

Cross-Reactivity between Schistosoma mansoni Antigens and the Latex Allergen Hev b 7: Putative Implication of Cross-Reactive Carbohydrate Determinants (CCDs)

Two independent proteomic approaches provide a comprehensive analysis of the synovial fluid proteome response to Autologous Chondrocyte Implantation

Molecular Crosstalk Between Non-SMN-Related and SMN-Related Spinal Muscular Atrophy

Increased NLRP1 mRNA and Protein Expression Suggests Inflammasome Activation in the Dorsolateral Prefrontal and Medial Orbitofrontal Cortex in Schizophrenia

The Proteome Signatures of Fibroblasts from Patients with Severe, Intermediate and Mild Spinal Muscular Atrophy Show Limited Overlap

An interaction of heart disease-associated proteins POPDC1/2 with XIRP1 in transverse tubules and intercalated discs

Multi-Study Proteomic and Bioinformatic Identification of Molecular Overlap between Amyotrophic Lateral Sclerosis (ALS) and Spinal Muscular Atrophy (SMA)

Proteomic characterization of human LMNA-related congenital muscular dystrophy muscle cells

Contaminants in commercial preparations of 'purified' small leucine-rich proteoglycans may distort mechanistic studies

A Meta-summary and Bioinformatic Analysis Identified Interleukin 6 as a Master Regulator of COVID-19 Severity Biomarkers

A Systematic Review and Meta-Analysis of the Effectiveness of Surgical Decompression in Treating Patients with Malignant Middle Cerebral Artery Infarction

Gene expression profiling of the dorsolateral and medial orbitofrontal cortex in schizophrenia

Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy

Commonality amid diversity: multi-study proteomic identification of conserved disease mechanisms in spinal muscular atrophy

AAV9-mediated SMN gene therapy rescues cardiac desmin but not lamin A/C and elastin dysregulation in Smn2B/− spinal muscular atrophy mice

Muscle cell differentiation and development pathway defects in Emery-Dreifuss muscular dystrophy

Investigation of the blood proteome in response to spinal cord injury in rodent models

Nesprin-1-alpha2 associates with kinesin at myotube outer nuclear membranes, but is restricted to neuromuscular junction nuclei in adult muscle

Quantitative proteomic profiling of the rat substantia nigra places glial fibrillary acidic protein at the hub of proteins dysregulated during aging: Implications for idiopathic Parkinson's disease

Lamin A/C dysregulation contributes to cardiac pathology in a mouse model of severe spinal muscular atrophy

Proteomic mapping of differentially vulnerable pre-synaptic populations identifies regulators of neuronal stability in vivo

Anti-epileptic drugs and bone loss: phenytoin reduces pro-collagen I and alters the electrophoretic mobility of osteonectin in cultured bone cells

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