Smn-Deficiency Increases the Intrinsic Excitability of Motoneurons

Reduced sensory synaptic excitation impairs motor neuron function via Kv2.1 in spinal muscular atrophy

(2017) Emily V Fletcher et al.   NATURE NEUROSCIENCE

A role for the survival of motor neuron protein in mRNP assembly and transport

(2016) Paul G Donlin-Asp et al.   CURRENT OPINION IN NEUROBIOLOGY

Synaptotagmin-2, and -1, linked to neurotransmission impairment and vulnerability in Spinal Muscular Atrophy

(2016) Rocío Tejero et al.   HUMAN MOLECULAR GENETICS

Motor neuron mitochondrial dysfunction in spinal muscular atrophy

(2016) Nimrod Miller et al.   HUMAN MOLECULAR GENETICS

Defects in Motoneuron–Astrocyte Interactions in Spinal Muscular Atrophy

(2016) Chunyi Zhou et al.   JOURNAL OF NEUROSCIENCE

Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons

(2016) Claudia Fallini et al.   JOURNAL OF NEUROSCIENCE

The neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy

(2016) W. Arnold et al.   NEUROBIOLOGY OF DISEASE

A Stem Cell Model of the Motor Circuit Uncouples Motor Neuron Death from Hyperexcitability Induced by SMN Deficiency

(2016) Christian M. Simon et al.   Cell Reports

Altered Functionality, Morphology, and Vesicular Glutamate Transporter Expression of Cortical Motor Neurons from a Presymptomatic Mouse Model of Amyotrophic Lateral Sclerosis

(2015) L. Saba et al.   CEREBRAL CORTEX

SMN expression is required in motor neurons to rescue electrophysiological deficits in the SMNΔ7 mouse model of SMA

(2015) Vicki L. McGovern et al.   HUMAN MOLECULAR GENETICS

Astrocytes influence the severity of spinal muscular atrophy

(2015) Hansjörg Rindt et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy patient-derived motor neurons exhibit hyperexcitability

(2015) Huisheng Liu et al.   Scientific Reports

Neurotransmitter release in motor nerve terminals of a mouse model of mild spinal muscular atrophy

(2013) Rocío Ruiz et al.   JOURNAL OF ANATOMY

Motor Neuron Rescue in Spinal Muscular Atrophy Mice Demonstrates That Sensory-Motor Defects Are a Consequence, Not a Cause, of Motor Neuron Dysfunction

(2012) R. G. Gogliotti et al.   JOURNAL OF NEUROSCIENCE

Survival Motor Neuron Protein in Motor Neurons Determines Synaptic Integrity in Spinal Muscular Atrophy

(2012) T. L. Martinez et al.   JOURNAL OF NEUROSCIENCE

Pan-ethnic carrier screening and prenatal diagnosis for spinal muscular atrophy: clinical laboratory analysis of >72 400 specimens

(2011) Elaine A Sugarman et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Severe neuromuscular denervation of clinically relevant muscles in a mouse model of spinal muscular atrophy

(2011) K. K. Y. Ling et al.   HUMAN MOLECULAR GENETICS

A new model to study spinal muscular atrophy: Neurite degeneration and cell death is counteracted by BCL-XL Overexpression in motoneurons

(2011) Ana Garcera et al.   NEUROBIOLOGY OF DISEASE

Early Functional Impairment of Sensory-Motor Connectivity in a Mouse Model of Spinal Muscular Atrophy

(2011) George Z. Mentis et al.   NEURON

SMN Requirement for Synaptic Vesicle, Active Zone and Microtubule Postnatal Organization in Motor Nerve Terminals

(2011) Laura Torres-Benito et al.   PLoS One

Altered Intracellular Ca2+ Homeostasis in Nerve Terminals of Severe Spinal Muscular Atrophy Mice

(2010) R. Ruiz et al.   JOURNAL OF NEUROSCIENCE

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

(2010) G.-H. Park et al.   JOURNAL OF NEUROSCIENCE

Synaptic Defects in the Spinal and Neuromuscular Circuitry in a Mouse Model of Spinal Muscular Atrophy

(2010) Karen K. Y. Ling et al.   PLoS One

Specific vulnerability of mouse spinal cord motoneurons to membrane depolarization

(2009) Myriam Gou-Fabregas et al.   JOURNAL OF NEUROCHEMISTRY

Impaired Synaptic Vesicle Release and Immaturity of Neuromuscular Junctions in Spinal Muscular Atrophy Mice

(2009) L. Kong et al.   JOURNAL OF NEUROSCIENCE

Cortical excitability testing distinguishes Kennedy’s disease from amyotrophic lateral sclerosis

(2008) Steve Vucic et al.   CLINICAL NEUROPHYSIOLOGY

Development and Characterisation of a Glutamate-Sensitive Motor Neurone Cell Line

(2003) Christopher J. Eggett et al.   JOURNAL OF NEUROCHEMISTRY