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Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice

Human molecular genetics, 2017-07, Vol.26 (13), p.2377-2385

2017

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Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

Human molecular genetics, 2008-08, Vol.17 (16), p.2552-2569

2008

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SMN regulates axonal local translation via miR-183/mTOR pathway

Human molecular genetics, 2014-12, Vol.23 (23), p.6318-6331

2014

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Glut1 deficiency syndrome: New and emerging insights into a prototypical brain energy failure disorder

Neuroscience Insights, 2021, Vol.16, p.263310552110115-26331055211011507

2021

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Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene

The Journal of neuroscience, 2010-09, Vol.30 (36), p.12005-12019

2010

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Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein

Nature communications, 2017-01, Vol.8 (1), p.14152-14152, Article 14152

2017

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Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

Journal of neuropathology and experimental neurology, 2015-01, Vol.74 (1), p.15-24

2015

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A cell autonomous torsinA requirement for cholinergic neuron survival and motor control

eLife, 2018-08, Vol.7

2018

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Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy

PloS one, 2012-09, Vol.7 (9), p.e46353-e46353

2012

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Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy

The Journal of clinical investigation, 2011-08, Vol.121 (8), p.3029-3041

2011

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A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

Molecular and Cellular Biology, 2012-01, Vol.32 (1), p.126-138

2012

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Therapeutic strategies for glucose transporter 1 deficiency syndrome

Annals of clinical and translational neurology, 2019-09, Vol.6 (9), p.1923-1932

2019

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Knockdown of the Survival Motor Neuron (Smn) Protein in Zebrafish Causes Defects in Motor Axon Outgrowth and Pathfinding

The Journal of cell biology, 2003-09, Vol.162 (5), p.919-931

2003

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Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy

Neural regeneration research, 2021-10, Vol.16 (10), p.1978-1984

2021

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Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies

Human molecular genetics, 2012-08, Vol.21 (15), p.3421-3434

2012

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Muscle: an independent contributor to the neuromuscular spinal muscular atrophy disease phenotype

JCI insight, 2023-09, Vol.8 (18)

2023

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Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease

Neuron (Cambridge, Mass.), 2005-12, Vol.48 (6), p.885-895

Monani, Umrao R.

2005

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Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation

The Journal of clinical investigation, 2014-02, Vol.124 (2), p.785-800

2014

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Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy

The Journal of clinical investigation, 2004-12, Vol.114 (12), p.1726-1731

2004

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An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice

JCI insight, 2021-02, Vol.6 (3)

2021

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Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy

Annals of clinical and translational neurology, 2021-05, Vol.8 (5), p.1086-1095

2021

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Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

Current neurology and neuroscience reports, 2010-03, Vol.10 (2), p.108-117

2010

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Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models

The Journal of clinical investigation, 2020-03, Vol.130 (3), p.1271-1287

2020

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Augmenting the SMN Protein to Treat Infantile Spinal Muscular Atrophy

Neuron (Cambridge, Mass.), 2018-03, Vol.97 (5), p.1001-1003

2018

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Motor neuronal repletion of the NMJ organizer, Agrin, modulates the severity of the spinal muscular atrophy disease phenotype in model mice

Reduced SMN protein impairs maturation of the neuromuscular junctions in mouse models of spinal muscular atrophy

SMN regulates axonal local translation via miR-183/mTOR pathway

Glut1 Deficiency Syndrome (Glut1DS): State of the art in 2020 and recommendations of the international Glut1DS study group

Glut1 deficiency syndrome: New and emerging insights into a prototypical brain energy failure disorder

Reduced survival of motor neuron (SMN) protein in motor neuronal progenitors functions cell autonomously to cause spinal muscular atrophy in model mice expressing the human centromeric (SMN2) gene

Brain microvasculature defects and Glut1 deficiency syndrome averted by early repletion of the glucose transporter-1 protein

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

A cell autonomous torsinA requirement for cholinergic neuron survival and motor control

Limited phenotypic effects of selectively augmenting the SMN protein in the neurons of a mouse model of severe spinal muscular atrophy

Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy

A Role for SMN Exon 7 Splicing in the Selective Vulnerability of Motor Neurons in Spinal Muscular Atrophy

Therapeutic strategies for glucose transporter 1 deficiency syndrome

Knockdown of the Survival Motor Neuron (Smn) Protein in Zebrafish Causes Defects in Motor Axon Outgrowth and Pathfinding

Emerging concepts underlying selective neuromuscular dysfunction in infantile-onset spinal muscular atrophy

Mutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies

Muscle: an independent contributor to the neuromuscular spinal muscular atrophy disease phenotype

Spinal Muscular Atrophy: A Deficiency in a Ubiquitous Protein; a Motor Neuron-Specific Disease

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation

Lentivector-mediated SMN replacement in a mouse model of spinal muscular atrophy

An early endothelial cell-specific requirement for Glut1 is revealed in Glut1 deficiency syndrome model mice

Diminished muscle oxygen uptake and fatigue in spinal muscular atrophy

Spinal Muscular Atrophy: New and Emerging Insights from Model Mice

Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models

Augmenting the SMN Protein to Treat Infantile Spinal Muscular Atrophy

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