Spinal muscular atrophy: a motor neuron disorder or a multi-organ disease?

Spinal Muscular Atrophy: New Findings for an Old Pathology

(2013) Daniele Bottai et al.   BRAIN PATHOLOGY

At the “Junction” of Spinal Muscular Atrophy Pathogenesis: The Role of Neuromuscular Junction Dysfunction in SMA Disease Progression

(2013) B. Goulet et al.   CURRENT MOLECULAR MEDICINE

Temporal requirement for SMN in motoneuron development

(2013) Le T. Hao et al.   HUMAN MOLECULAR GENETICS

Intramuscular scAAV9-SMN Injection Mediates Widespread Gene Delivery to the Spinal Cord and Decreases Disease Severity in SMA Mice

(2013) Sofia Benkhelifa-Ziyyat et al.   MOLECULAR THERAPY

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

Fasudil improves survival and promotes skeletal muscle development in a mouse model of spinal muscular atrophy

(2012) Melissa Bowerman et al.   BMC Medicine

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

(2012) Francesco Lotti et al.   CELL

SMN Is Required for Sensory-Motor Circuit Function in Drosophila

(2012) Wendy L. Imlach et al.   CELL

A cell-autonomous defect in skeletal muscle satellite cells expressing low levels of survival of motor neuron protein

(2012) Monica Hayhurst et al.   DEVELOPMENTAL BIOLOGY

Severe SMA mice show organ impairment that cannot be rescued by therapy with the HDACi JNJ-26481585

(2012) Julia Schreml et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Abnormal fatty acid metabolism in spinal muscular atrophy may predispose to perioperative risks

(2012) Zarazuela Zolkipli et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

SMN-inducing compounds for the treatment of spinal muscular atrophy

(2012) Monique A Lorson et al.   Future Medicinal Chemistry

Therapeutic strategies for the treatment of spinal muscular atrophy

(2012) Jonathan J Cherry et al.   Future Medicinal Chemistry

Evaluation of fetal nuchal translucency in 98 pregnancies at risk for severe spinal muscular atrophy: possible relevance of the SMN2 copy number

(2012) Juan Parra et al.   Journal of Maternal-Fetal & Neonatal Medicine

Partial restoration of cardio-vascular defects in a rescued severe model of spinal muscular atrophy

(2012) Monir Shababi et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

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

Synaptic defects in type I spinal muscular atrophy in human development

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

Direct central nervous system delivery provides enhanced protection following vector mediated gene replacement in a severe model of Spinal Muscular Atrophy

(2011) Jacqueline J. Glascock et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

New Therapeutic Approaches to Spinal Muscular Atrophy

(2011) Aga Lewelt et al.   Current Neurology and Neuroscience Reports

Muscles in a mouse model of spinal muscular atrophy show profound defects in neuromuscular development even in the absence of failure in neuromuscular transmission or loss of motor neurons

(2011) Young il Lee et al.   DEVELOPMENTAL BIOLOGY

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

Decreasing Disease Severity in Symptomatic, Smn−/−;SMN2+/+, Spinal Muscular Atrophy Mice Following scAAV9-SMN Delivery

(2011) Jacqueline J. Glascock et al.   HUMAN GENE THERAPY

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

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

Reversible molecular pathology of skeletal muscle in spinal muscular atrophy

(2011) Chantal A. Mutsaers et al.   HUMAN MOLECULAR GENETICS

Temporal requirement for high SMN expression in SMA mice

(2011) T. T. Le et al.   HUMAN MOLECULAR GENETICS

A single administration of morpholino antisense oligomer rescues spinal muscular atrophy in mouse

(2011) Paul N. Porensky 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

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

(2011) Cathleen M. Lutz et al.   JOURNAL OF CLINICAL INVESTIGATION

Prolactin increases SMN expression and survival in a mouse model of severe spinal muscular atrophy via the STAT5 pathway

(2011) Faraz Farooq et al.   JOURNAL OF CLINICAL INVESTIGATION

Bifunctional RNAs Targeting the Intronic Splicing Silencer N1 Increase SMN Levels and Reduce Disease Severity in an Animal Model of Spinal Muscular Atrophy

(2011) Erkan Y Osman et al.   MOLECULAR THERAPY

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

(2011) Yimin Hua et al.   NATURE

A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology

(2011) Mélissa Bowerman et al.   NEUROMUSCULAR DISORDERS

Density, calibre and ramification of muscle capillaries are altered in a mouse model of severe spinal muscular atrophy

(2011) E. Somers et al.   NEUROMUSCULAR DISORDERS

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

(2011) George Z. Mentis et al.   NEURON

Perfluorodecalin lavage of a longstanding lung atelectasis in a child with spinal muscle atrophy

(2011) Thore Henrichsen et al.   PEDIATRIC PULMONOLOGY

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

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

Antisense Oligonucleotides Delivered to the Mouse CNS Ameliorate Symptoms of Severe Spinal Muscular Atrophy

(2011) M. A. Passini et al.   Science Translational Medicine

New insights into the pathogenesis of spinal muscular atrophy

(2010) Yasushi Ito et al.   BRAIN & DEVELOPMENT

Spinal muscular atrophy type I combined with atrial septal defect in three sibs

(2010) P. Møller et al.   CLINICAL GENETICS

Antisense correction of SMN2 splicing in the CNS rescues necrosis in a type III SMA mouse model

(2010) Y. Hua et al.   GENES & DEVELOPMENT

SAHA ameliorates the SMA phenotype in two mouse models for spinal muscular atrophy

(2010) Markus Riessland et al.   HUMAN MOLECULAR GENETICS

SMN deficiency disrupts brain development in a mouse model of severe spinal muscular atrophy

(2010) Thomas M. Wishart et al.   HUMAN MOLECULAR GENETICS

Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice

(2010) Elisa Dominguez et al.   HUMAN MOLECULAR GENETICS

Arrhythmia and cardiac defects are a feature of spinal muscular atrophy model mice

(2010) Christopher R. Heier et al.   HUMAN MOLECULAR GENETICS

Cardiac defects contribute to the pathology of spinal muscular atrophy models

(2010) Monir Shababi et al.   HUMAN MOLECULAR GENETICS

Early heart failure in the SMNΔ7 model of spinal muscular atrophy and correction by postnatal scAAV9-SMN delivery

(2010) Adam K. Bevan et al.   HUMAN MOLECULAR GENETICS

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

(2010) Mélissa Bowerman et al.   HUMAN MOLECULAR GENETICS

Spinal muscular atrophy: mechanisms and therapeutic strategies

(2010) C. L. Lorson et al.   HUMAN MOLECULAR GENETICS

CNS-targeted gene therapy improves survival and motor function in a mouse model of spinal muscular atrophy

(2010) Marco A. Passini et al.   JOURNAL OF CLINICAL INVESTIGATION

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

Digital necroses and vascular thrombosis in severe spinal muscular atrophy

(2010) Sabine Rudnik-Schöneborn et al.   MUSCLE & NERVE

Rescue of the spinal muscular atrophy phenotype in a mouse model by early postnatal delivery of SMN

(2010) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Review: Neuromuscular synaptic vulnerability in motor neurone disease: amyotrophic lateral sclerosis and spinal muscular atrophy

(2010) L. M. Murray et al.   NEUROPATHOLOGY AND APPLIED NEUROBIOLOGY

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

A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy

(2010) Natalia N. Singh et al.   RNA Biology

An antisense microwalk reveals critical role of an intronic position linked to a unique long-distance interaction in pre-mRNA splicing

(2010) N. N. Singh et al.   RNA

Systemic Delivery of scAAV9 Expressing SMN Prolongs Survival in a Model of Spinal Muscular Atrophy

(2010) C. F. Valori et al.   Science Translational Medicine

Effect of diet on the survival and phenotype of a mouse model for spinal muscular atrophy

(2009) Matthew E.R. Butchbach et al.   BIOCHEMICAL AND BIOPHYSICAL RESEARCH COMMUNICATIONS

Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling

(2009) S Rudnik-Schöneborn et al.   CLINICAL GENETICS

Emerging treatment options for spinal muscular atrophy

(2009) Barrington G. Burnett et al.   Current Treatment Options in Neurology

Treatment and complications in flaccid neuromuscular scoliosis (Duchenne muscular dystrophy and spinal muscular atrophy) with posterior-only pedicle screw instrumentation

(2009) Hitesh N. Modi et al.   EUROPEAN SPINE JOURNAL

Pre-symptomatic development of lower motor neuron connectivity in a mouse model of severe spinal muscular atrophy

(2009) Lyndsay M. Murray et al.   HUMAN MOLECULAR GENETICS

The Developmental Pattern of Myotubes in Spinal Muscular Atrophy Indicates Prenatal Delay of Muscle Maturation

(2009) Rebeca Martínez-Hernández et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

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

Neurodevelopmental consequences of Smn depletion in a mouse model of spinal muscular atrophy

(2009) Hong Liu et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

(2009) Alexandra prufer de Queiroz Campos Araujo et al.   JOURNAL OF PEDIATRICS

Congenital heart defects in spinal muscular atrophy type I: A clinical report of two siblings and a review of the literature

(2008) Leonie A. Menke et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Energy metabolism in heart failure and remodelling

(2008) J. S. Ingwall   CARDIOVASCULAR RESEARCH

Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

(2008) T. O. Gavrilina et al.   HUMAN MOLECULAR GENETICS

Delivery of recombinant follistatin lessens disease severity in a mouse model of spinal muscular atrophy

(2008) Ferrill F. Rose et al.   HUMAN MOLECULAR 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

Embryonic motor axon development in the severe SMA mouse

(2008) V. L. McGovern et al.   HUMAN MOLECULAR GENETICS

An autopsy case of spinal muscular atrophy type III (Kugelberg-Welander disease)

(2008) Satoshi Kuru et al.   NEUROPATHOLOGY