Transcriptional profiling of differentially vulnerable motor neurons at pre-symptomatic stage in the Smn 2b/- mouse model of spinal muscular atrophy

Congenital myasthenic syndromes: pathogenesis, diagnosis, and treatment

(2015) Andrew G Engel et al.   LANCET NEUROLOGY

Marinesco-Sjögren syndrome protein SIL1 regulates motor neuron subtype-selective ER stress in ALS

(2015) Audrey Filézac de L'Etang et al.   NATURE NEUROSCIENCE

Mammalian nerve globins in search of functions

(2014) Paolo Ascenzi et al.   IUBMB LIFE

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

(2014) Thomas M. Wishart et al.   JOURNAL OF CLINICAL INVESTIGATION

Systemic Administration of a Recombinant AAV1 Vector Encoding IGF-1 Improves Disease Manifestations in SMA Mice

(2014) Li-Kai Tsai et al.   MOLECULAR THERAPY

Congenital lethal motor neuron disease with a novel defect in ribosome biogenesis

(2014) R. J. Butterfield et al.   NEUROLOGY

Neuronal Matrix Metalloproteinase-9 Is a Determinant of Selective Neurodegeneration

(2014) Artem Kaplan et al.   NEURON

ALS-associated mutations in FUS disrupt the axonal distribution and function of SMN

(2013) Ewout J.N. Groen et al.   HUMAN MOLECULAR GENETICS

A mitochondrial location for haemoglobins—Dynamic distribution in ageing and Parkinson's disease

(2013) Freya Shephard et al.   MITOCHONDRION

Acute isolation and transcriptome characterization of cortical astrocytes and microglia from young and aged mice

(2013) Marie Orre et al.   NEUROBIOLOGY OF AGING

Dysregulation of synaptogenesis genes antecedes motor neuron pathology in spinal muscular atrophy

(2013) Z. Zhang et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Unravelling the enigma of selective vulnerability in neurodegeneration: motor neurons resistant to degeneration in ALS show distinct gene expression characteristics and decreased susceptibility to excitotoxicity

(2012) Alice Brockington et al.   ACTA NEUROPATHOLOGICA

Spinal muscular atrophy: The role of SMN in axonal mRNA regulation

(2012) Claudia Fallini et al.   BRAIN RESEARCH

Spliceosomal small nuclear ribonucleoprotein biogenesis defects and motor neuron selectivity in spinal muscular atrophy

(2012) Eileen Workman et al.   BRAIN RESEARCH

An SMN-Dependent U12 Splicing Event Essential for Motor Circuit Function

(2012) Francesco Lotti et al.   CELL

A novel function for the survival motoneuron protein as a translational regulator

(2012) Gabriel Sanchez et al.   HUMAN MOLECULAR GENETICS

Alterations in the motor neuron-renshaw cell circuit in theSod1G93Amouse model

(2012) Hanna Wootz et al.   JOURNAL OF COMPARATIVE NEUROLOGY

Synaptic defects in type I spinal muscular atrophy in human development

(2012) Rebeca Martínez-Hernández et al.   JOURNAL OF PATHOLOGY

Defects in neuromuscular junction remodelling in the Smn2B/− mouse model of spinal muscular atrophy

(2012) Lyndsay M. Murray et al.   NEUROBIOLOGY OF DISEASE

Dysfunction of the neuromuscular junction in spinal muscular atrophy types 2 and 3

(2012) R. I. Wadman et al.   NEUROLOGY

FUS-SMN Protein Interactions Link the Motor Neuron Diseases ALS and SMA

(2012) Tomohiro Yamazaki et al.   Cell Reports

The spinal muscular atrophy mouse model, SMAΔ7, displays altered axonal transport without global neurofilament alterations

(2011) Jeffrey M. Dale et al.   ACTA NEUROPATHOLOGICA

Proteomic assessment of a cell model of spinal muscular atrophy

(2011) Chia-Yen Wu et al.   BMC NEUROSCIENCE

Global gene expression profiling of somatic motor neuron populations with different vulnerability identify molecules and pathways of degeneration and protection

(2011) Eva Hedlund et al.   BRAIN

The contribution of mouse models to understanding the pathogenesis of spinal muscular atrophy

(2011) J. N. Sleigh et al.   Disease Models & Mechanisms

Increased IGF-1 in muscle modulates the phenotype of severe SMA mice

(2011) Marta Bosch-Marcé et al.   HUMAN MOLECULAR 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

Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy

(2011) Elisabet Dachs et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

(2011) Yimin Hua et al.   NATURE

IGF-1 delivery to CNS attenuates motor neuron cell death but does not improve motor function in type III SMA mice

(2011) Li-Kai Tsai et al.   NEUROBIOLOGY OF DISEASE

SMN in spinal muscular atrophy and snRNP biogenesis

(2011) Tristan H. Coady et al.   Wiley Interdisciplinary Reviews-RNA

Motor Neuron Diversity in Development and Disease

(2010) Kevin C. Kanning et al.   Annual Review of Neuroscience

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

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

Gene expression patterns in the hippocampus and amygdala of endogenous depression and chronic stress models

(2010) B M Andrus et al.   MOLECULAR PSYCHIATRY

Mouse Survival Motor Neuron Alleles That Mimic SMN2 Splicing and Are Inducible Rescue Embryonic Lethality Early in Development but Not Late

(2010) Suzan M. Hammond et al.   PLoS One

IGHMBP2 is a ribosome-associated helicase inactive in the neuromuscular disorder distal SMA type 1 (DSMA1)

(2009) Ulf-Peter Guenther et al.   HUMAN MOLECULAR GENETICS

Biochemical and genetic evidence for a role of IGHMBP2 in the translational machinery

(2009) Mariàngels de Planell-Saguer et al.   HUMAN MOLECULAR GENETICS

Neurons express hemoglobin α- and β-chains in rat and human brains

(2009) Franziska Richter et al.   JOURNAL OF COMPARATIVE NEUROLOGY

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

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

Mutations in FUS, an RNA Processing Protein, Cause Familial Amyotrophic Lateral Sclerosis Type 6

(2009) C. Vance et al.   SCIENCE

Mutations in the FUS/TLS Gene on Chromosome 16 Cause Familial Amyotrophic Lateral Sclerosis

(2009) T. J. Kwiatkowski et al.   SCIENCE

Alternative Splicing Events Are a Late Feature of Pathology in a Mouse Model of Spinal Muscular Atrophy

(2009) Dirk Bäumer et al.   PLoS Genetics

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

(2008) Shingo Kariya et al.   HUMAN MOLECULAR GENETICS

Effects of Cerebral Ischemia on Neuronal Hemoglobin

(2008) Yangdong He et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM

Expression of Hemoglobin in Rodent Neurons

(2008) Dominik W Schelshorn et al.   JOURNAL OF CEREBRAL BLOOD FLOW AND METABOLISM