In Search of a Cure: The Development of Therapeutics to Alter the Progression of Spinal Muscular Atrophy

Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next

(2020) Brunhilde Wirth et al.   Annual Review of Genomics and Human Genetics

Structural basis for specific inhibition of extracellular activation of pro- or latent myostatin by the monoclonal antibody SRK-015

(2020) Kevin B Dagbay et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2020) Jeong-Ki Kim et al.   JOURNAL OF CLINICAL INVESTIGATION

Overturning the Paradigm of Spinal Muscular Atrophy as just a Motor Neuron Disease

(2020) Crystal Jing Jing Yeo et al.   PEDIATRIC NEUROLOGY

Health ministers condemn Novartis lottery for Zolgensma, the world’s most expensive drug

(2020) Owen Dyer   BMJ-British Medical Journal

Myostatin inhibition in combination with antisense oligonucleotide therapy improves outcomes in spinal muscular atrophy

(2020) Haiyan Zhou et al.   Journal of Cachexia Sarcopenia and Muscle

The Effectiveness of Wearable Upper Limb Assistive Devices in Degenerative Neuromuscular Diseases: A Systematic Review and Meta-Analysis

(2020) Marta Gandolla et al.   Frontiers in Bioengineering and Biotechnology

New and Developing Therapies in Spinal Muscular Atrophy: From Genotype to Phenotype to Treatment and Where Do We Stand?

(2020) Tai-Heng Chen   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Nusinersen in adults with 5q spinal muscular atrophy: a non-interventional, multicentre, observational cohort study

(2020) Tim Hagenacker et al.   LANCET NEUROLOGY

Psychosocial impact of sport activity in neuromuscular disorders

(2020) Gian Luca Vita et al.   NEUROLOGICAL SCIENCES

Health, wellbeing and lived experiences of adults with SMA: a scoping systematic review

(2020) Hamish W. Y. Wan et al.   Orphanet Journal of Rare Diseases

Longitudinal natural history of type I spinal muscular atrophy: a critical review

(2020) Eugenio Mercuri et al.   Orphanet Journal of Rare Diseases

Mislocalization of SMN from the I-band and M-band in human skeletal myofibers in spinal muscular atrophy associates with primary structural alterations of the sarcomere

(2020) María T. Berciano et al.   CELL AND TISSUE RESEARCH

Risdiplam: First Approval

(2020) Sohita Dhillon   DRUGS

LCM-seq reveals unique transcriptional adaptation mechanisms of resistant neurons and identifies protective pathways in spinal muscular atrophy

(2020) Susanne Nichterwitz et al.   GENOME RESEARCH

Conditional deletion of SMN in cell culture identifies functional SMN alleles

(2020) Anton J Blatnik et al.   HUMAN MOLECULAR GENETICS

Early experiences of nusinersen for the treatment of spinal muscular atrophy: Results from a large survey of patients and caregivers

(2020) Er Chen et al.   MUSCLE & NERVE

Long-term follow-up of patients with type 2 and non-ambulant type 3 spinal muscular atrophy (SMA) treated with olesoxime in the OLEOS trial

(2020) Francesco Muntoni et al.   NEUROMUSCULAR DISORDERS

Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn mouse model of spinal muscular atrophy

(2020) Emily J. Reedich et al.   EXPERIMENTAL NEUROLOGY

Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype

(2019) Corey Ruhno et al.   HUMAN GENETICS

Evaluating Benefit-risk Decision-making in Spinal Muscular Atrophy: A First-ever Study to Assess Risk Tolerance in the SMA Patient Community

(2019) Rosángel Cruz et al.   CLINICAL THERAPEUTICS

Impact of age and motor function in a phase 1/2A study of infants with SMA Type 1 receiving single-dose gene replacement therapy

(2019) Linda P. Lowes et al.   PEDIATRIC NEUROLOGY

NCALD Antisense Oligonucleotide Therapy in Addition to Nusinersen further Ameliorates Spinal Muscular Atrophy in Mice

(2019) Laura Torres-Benito et al.   AMERICAN JOURNAL OF HUMAN GENETICS

066 Avxs-101 gene-replacement therapy (GRT) for spinal muscular atrophy type 1 (SMA1): pivotal phase 3 study (STR1VE) update

(2019) John W Day et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Hyperexcitability precedes motoneuron loss in the Smn2B/-mouse model of spinal muscular atrophy

(2019) Katharina A Quinlan et al.   JOURNAL OF NEUROPHYSIOLOGY

Mechanisms of exercise‐induced survival motor neuron expression in the skeletal muscle of spinal muscular atrophy‐like mice

(2019) Sean Y Ng et al.   JOURNAL OF PHYSIOLOGY-LONDON

PRO14 IMPROVED QUALITY OF LIFE AND LIFE-YEARS IN PATIENTS WITH INFANTILE-ONSET SMA FOLLOWING TREATMENT WITH NUSINERSEN

(2019) S. Zuluaga Sanchez et al.   VALUE IN HEALTH

Reduced P53 levels ameliorate neuromuscular junction loss without affecting motor neuron pathology in a mouse model of spinal muscular atrophy

(2019) Natalie L. Courtney et al.   Cell Death & Disease

Nusinersen initiated in infants during the presymptomatic stage of spinal muscular atrophy: Interim efficacy and safety results from the Phase 2 NURTURE study

(2019) Darryl C. De Vivo et al.   NEUROMUSCULAR DISORDERS

Low-Intensity Running and High-Intensity Swimming Exercises Differentially Improve Energy Metabolism in Mice With Mild Spinal Muscular Atrophy

(2019) Léo Houdebine et al.   Frontiers in Physiology

Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment

(2019) Daniel M. Ramos et al.   JOURNAL OF CLINICAL INVESTIGATION

P.353FIREFISH Part 1: 16-month safety and exploratory outcomes of risdiplam (RG7916) treatment in infants with type 1 spinal muscular atrophy

(2019) G. Baranello et al.   NEUROMUSCULAR DISORDERS

TrkB agonistic antibodies superior to BDNF: Utility in treating motoneuron degeneration

(2019) Wei Guo et al.   NEUROBIOLOGY OF DISEASE

Spinal Muscular Atrophy Therapies: ICER Grounds the Price to Value Conversation in Facts

(2019) Catherine I. Starner et al.   Journal of Managed Care & Specialty Pharmacy

JNK Signaling Pathway Involvement in Spinal Cord Neuron Development and Death

(2019) Roberta Schellino et al.   Cells

CHP1 reduction ameliorates spinal muscular atrophy pathology by restoring calcineurin activity and endocytosis

(2018) Eva Janzen et al.   BRAIN

The role of survival motor neuron protein (SMN) in protein homeostasis

(2018) Helena Chaytow et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Parents' advice to healthcare professionals working with children who have spinal muscular atrophy

(2018) Elin Hjorth et al.   EUROPEAN JOURNAL OF PAEDIATRIC NEUROLOGY

Developmental and degenerative cardiac defects in the Taiwanese mouse model of severe spinal muscular atrophy

(2018) Gillian K. Maxwell et al.   JOURNAL OF ANATOMY

Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study

(2018) Gamze Bora et al.   JOURNAL OF CHILD NEUROLOGY

Two breakthrough gene-targeted treatments for spinal muscular atrophy: challenges remain

(2018) Charlotte J. Sumner et al.   JOURNAL OF CLINICAL INVESTIGATION

Critical period of neuromuscular development: Importance for a new treatment of SMA

(2018) Gerta Vrbová et al.   NEUROMUSCULAR DISORDERS

Diagnosis and management of spinal muscular atrophy: Part 2: Pulmonary and acute care; medications, supplements and immunizations; other organ systems; and ethics

(2018) Richard S. Finkel et al.   NEUROMUSCULAR DISORDERS

Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases

(2018) Maite Calucho et al.   NEUROMUSCULAR DISORDERS

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

(2018) Eugenio Mercuri et al.   NEUROMUSCULAR DISORDERS

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Ambulatory function in spinal muscular atrophy: Age-related patterns of progression

(2018) Jacqueline Montes et al.   PLoS One

Increasing Agrin Function Antagonizes Muscle Atrophy and Motor Impairment in Spinal Muscular Atrophy

(2018) Marina Boido et al.   Frontiers in Cellular Neuroscience

Plastin 3 Promotes Motor Neuron Axonal Growth and Extends Survival in a Mouse Model of Spinal Muscular Atrophy

(2018) Aziza Alrafiah et al.   Molecular Therapy-Methods & Clinical Development

Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 (SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA)

(2018) Hasane Ratni et al.   JOURNAL OF MEDICINAL CHEMISTRY

Precious SMA natural history data

(2018) Basil T. Darras et al.   NEUROLOGY

Patient Reported Impact of Symptoms in Spinal Muscular Atrophy (PRISM-SMA)

(2018) Phillip Mongiovi et al.   NEUROLOGY

SMA THERAPIES II AND BIOMARKERS

(2018) T. Crawford et al.   NEUROMUSCULAR DISORDERS

NEW GENES, FUNCTIONS AND BIOMARKERS

(2018) B. Darras et al.   NEUROMUSCULAR DISORDERS

How the discovery of ISS-N1 led to the first medical therapy for spinal muscular atrophy

(2017) N N Singh et al.   GENE THERAPY

Developmental regulation of SMN expression: pathophysiological implications and perspectives for therapy development in spinal muscular atrophy

(2017) S Jablonka et al.   GENE THERAPY

Downregulation of Survivin contributes to cell-cycle arrest during postnatal cardiac development in a severe spinal muscular atrophy mouse model

(2017) Lei Sheng et al.   HUMAN MOLECULAR GENETICS

A-44G transition in SMN2 intron 6 protects patients with spinal muscular atrophy

(2017) Xingxing Wu et al.   HUMAN MOLECULAR GENETICS

Motor milestone assessment of infants with spinal muscular atrophy using the hammersmith infant neurological Exam-Part 2: Experience from a nusinersen clinical study

(2017) Kathie M. Bishop et al.   MUSCLE & NERVE

CK-2127107 amplifies skeletal muscle response to nerve activation in humans

(2017) Jinsy A. Andrews et al.   MUSCLE & NERVE

Nusinersen, an antisense oligonucleotide drug for spinal muscular atrophy

(2017) David R Corey   NATURE NEUROSCIENCE

6MWT can identify type 3 SMA patients with neuromuscular junction dysfunction

(2017) Maria Carmela Pera et al.   NEUROMUSCULAR DISORDERS

Longitudinal assessments in discordant twins with SMA

(2017) Marika Pane et al.   NEUROMUSCULAR DISORDERS

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

(2017) Jerry R. Mendell et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Social/economic costs and health-related quality of life in patients with spinal muscular atrophy (SMA) in Spain

(2017) Julio López-Bastida et al.   Orphanet Journal of Rare Diseases

Cardiac pathology in spinal muscular atrophy: a systematic review

(2017) C. A. Wijngaarde et al.   Orphanet Journal of Rare Diseases

SMN deficiency in severe models of spinal muscular atrophy causes widespread intron retention and DNA damage

(2017) Mohini Jangi et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Binding to SMN2 pre-mRNA-protein complex elicits specificity for small molecule splicing modifiers

(2017) Manaswini Sivaramakrishnan et al.   Nature Communications

Converging Mechanisms of p53 Activation Drive Motor Neuron Degeneration in Spinal Muscular Atrophy

(2017) Christian M. Simon et al.   Cell Reports

BDNF/trkB Induction of Calcium Transients through Cav2.2 Calcium Channels in Motoneurons Corresponds to F-actin Assembly and Growth Cone Formation on β2-Chain Laminin (221)

(2017) Benjamin Dombert et al.   Frontiers in Molecular Neuroscience

The Power of Human Protective Modifiers: PLS3 and CORO1C Unravel Impaired Endocytosis in Spinal Muscular Atrophy and Rescue SMA Phenotype

(2016) Seyyedmohsen Hosseinibarkooie et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Pharmacologically induced mouse model of adult spinal muscular atrophy to evaluate effectiveness of therapeutics after disease onset

(2016) Zhihua Feng et al.   HUMAN MOLECULAR GENETICS

Restoration of SMN in Schwann cells reverses myelination defects and improves neuromuscular function in spinal muscular atrophy

(2016) Gillian Hunter et al.   HUMAN MOLECULAR GENETICS

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

Long-term exercise-specific neuroprotection in spinal muscular atrophy-like mice

(2016) Farah Chali et al.   JOURNAL OF PHYSIOLOGY-LONDON

Treatment of infantile-onset spinal muscular atrophy with nusinersen: a phase 2, open-label, dose-escalation study

(2016) Richard S Finkel et al.   LANCET

Central and peripheral defects in motor units of the diaphragm of spinal muscular atrophy mice

(2016) Anuja Neve et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

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

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

RNA-sequencing of a mouse-model of spinal muscular atrophy reveals tissue-wide changes in splicing of U12-dependent introns

(2016) Thomas Koed Doktor et al.   NUCLEIC ACIDS RESEARCH

Loganin possesses neuroprotective properties, restores SMN protein and activates protein synthesis positive regulator Akt/mTOR in experimental models of spinal muscular atrophy

(2016) Yu-Ting Tseng et al.   PHARMACOLOGICAL RESEARCH

Neuromuscular Junctions as Key Contributors and Therapeutic Targets in Spinal Muscular Atrophy

(2016) Marina Boido et al.   Frontiers in Neuroanatomy

Selective Neuromuscular Denervation in Taiwanese Severe SMA Mouse Can Be Reversed by Morpholino Antisense Oligonucleotides

(2016) Te-Lin Lin et al.   PLoS One

A large animal model of spinal muscular atrophy and correction of phenotype

(2015) Sandra I. Duque et al.   ANNALS OF NEUROLOGY

Understanding the experiences and needs of individuals with Spinal Muscular Atrophy and their parents: a qualitative study

(2015) Ying Qian et al.   BMC Neurology

Is spinal muscular atrophy a disease of the motor neurons only: pathogenesis and therapeutic implications?

(2015) Chiara Simone et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Abnormal mitochondrial transport and morphology as early pathological changes in human models of spinal muscular atrophy

(2015) Chong-Chong Xu et al.   Disease Models & Mechanisms

Mechanistic principles of antisense targets for the treatment of spinal muscular atrophy

(2015) Natalia N Singh et al.   Future Medicinal Chemistry

Genetic inhibition of JNK3 ameliorates spinal muscular atrophy

(2015) Naresh K. Genabai et al.   HUMAN MOLECULAR GENETICS

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

Low levels of Survival Motor Neuron protein are sufficient for normal muscle function in the SMNΔ7 mouse model of SMA

(2015) Chitra C. Iyer et al.   HUMAN MOLECULAR GENETICS

Astrocytes influence the severity of spinal muscular atrophy

(2015) Hansjörg Rindt et al.   HUMAN MOLECULAR GENETICS

Spectrum of Neuropathophysiology in Spinal Muscular Atrophy Type I

(2015) Brian N. Harding et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

(2015) S. Tisdale et al.   JOURNAL OF NEUROSCIENCE

Improving Single Injection CSF Delivery of AAV9-mediated Gene Therapy for SMA: A Dose–response Study in Mice and Nonhuman Primates

(2015) Kathrin Meyer et al.   MOLECULAR THERAPY

Resistance strength training exercise in children with spinal muscular atrophy

(2015) Aga Lewelt et al.   MUSCLE & NERVE

Training improves oxidative capacity, but not function, in spinal muscular atrophy type III

(2015) Karen Lindhardt Madsen et al.   MUSCLE & NERVE

Spinal muscular atrophy—recent therapeutic advances for an old challenge

(2015) Irene Faravelli et al.   Nature Reviews Neurology

Spinal Muscular Atrophy

(2015) Stephen J. Kolb et al.   NEUROLOGIC CLINICS

Spinal Muscular Atrophy Therapeutics: Where do we Stand?

(2015) Constantin d’Ydewalle et al.   Neurotherapeutics

Spinal Muscular Atrophies

(2015) Basil T. Darras   PEDIATRIC CLINICS OF NORTH AMERICA

Plastin 3 Expression Does Not Modify Spinal Muscular Atrophy Severity in the ∆7 SMA Mouse

(2015) Vicki L. McGovern et al.   PLoS One

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

(2015) Lyndsay M. Murray et al.   Acta Neuropathologica Communications

Splicing changes in SMA mouse motoneurons and SMN-depleted neuroblastoma cells: Evidence for involvement of splicing regulatory proteins

(2015) Qing Huo et al.   RNA Biology

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

(2014) Min Jeong Kye et al.   HUMAN MOLECULAR GENETICS

Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy

(2014) Justin G. Boyer et al.   HUMAN MOLECULAR GENETICS

Survival motor neuron protein deficiency impairs myotube formation by altering myogenic gene expression and focal adhesion dynamics

(2014) Katherine V. Bricceno et al.   HUMAN MOLECULAR GENETICS

Requirement of enhanced Survival Motoneuron protein imposed during neuromuscular junction maturation

(2014) Shingo Kariya et al.   JOURNAL OF CLINICAL INVESTIGATION

Complete reversal of Lambert-Eaton myasthenic syndrome synaptic impairment by the combined use of a K+channel blocker and a Ca2+channel agonist

(2014) Tyler B. Tarr et al.   JOURNAL OF PHYSIOLOGY-LONDON

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

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

Spinal muscular atrophy: Diagnosis and management in a new therapeutic era

(2014) W. David Arnold et al.   MUSCLE & NERVE

Skeletal Muscle DNA Damage Precedes Spinal Motor Neuron DNA Damage in a Mouse Model of Spinal Muscular Atrophy (SMA)

(2014) Saniya Fayzullina et al.   PLoS One

SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy

(2014) N. A. Naryshkin et al.   SCIENCE

A Short Antisense Oligonucleotide Ameliorates Symptoms of Severe Mouse Models of Spinal Muscular Atrophy

(2014) Jeffrey M Keil et al.   Molecular Therapy-Nucleic Acids

Spinal Muscular Atrophy: From Gene Discovery to Clinical Trials

(2013) Dian K. Nurputra et al.   ANNALS OF HUMAN GENETICS

Spinal muscular atrophy astrocytes exhibit abnormal calcium regulation and reduced growth factor production

(2013) Jered V. McGivern et al.   GLIA

A Novel Morpholino Oligomer Targeting ISS-N1 Improves Rescue of Severe Spinal Muscular Atrophy Transgenic Mice

(2013) Haiyan Zhou et al.   HUMAN GENE THERAPY

Antisense Oligonucleotides for the Treatment of Spinal Muscular Atrophy

(2013) Paul N. Porensky et al.   HUMAN GENE THERAPY

SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy

(2013) Gillian Hunter et al.   HUMAN MOLECULAR GENETICS

The DcpS inhibitor RG3039 improves survival, function and motor unit pathologies in two SMA mouse models

(2013) Rocky G. Gogliotti et al.   HUMAN MOLECULAR GENETICS

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

(2013) Rocío Ruiz et al.   JOURNAL OF ANATOMY

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

(2013) Monir Shababi et al.   JOURNAL OF ANATOMY

Evaluation of a Novel Calcium Channel Agonist for Therapeutic Potential in Lambert-Eaton Myasthenic Syndrome

(2013) T. B. Tarr et al.   JOURNAL OF NEUROSCIENCE

The Neuroprotective Drug Riluzole Acts via Small Conductance Ca2+-Activated K+ Channels to Ameliorate Defects in Spinal Muscular Atrophy Models

(2013) M. Dimitriadi et al.   JOURNAL OF NEUROSCIENCE

ProBDNF and Mature BDNF as Punishment and Reward Signals for Synapse Elimination at Mouse Neuromuscular Junctions

(2013) H. S. Je et al.   JOURNAL OF NEUROSCIENCE

Improvement of Neuromuscular Synaptic Phenotypes without Enhanced Survival and Motor Function in Severe Spinal Muscular Atrophy Mice Selectively Rescued in Motor Neurons

(2013) Ximena Paez-Colasante et al.   PLoS One

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

Glucose metabolism and pancreatic defects in spinal muscular atrophy

(2012) Melissa Bowerman et al.   ANNALS OF NEUROLOGY

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

(2012) Claudia Fallini et al.   BRAIN RESEARCH

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

Laminin induced local axonal translation of β-actin mRNA is impaired in SMN-deficient motoneurons

(2012) Reena Rathod et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Characterization of behavioral and neuromuscular junction phenotypes in a novel allelic series of SMA mouse models

(2012) Melissa Osborne et al.   HUMAN MOLECULAR GENETICS

Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality

(2012) Bastian Ackermann et al.   HUMAN MOLECULAR GENETICS

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

Survival Motor Neuron Affects Plastin 3 Protein Levels Leading to Motor Defects

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

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

Physical exercise reduces cardiac defects in type 2 spinal muscular atrophy-like mice

(2012) Olivier Biondi et al.   JOURNAL OF PHYSIOLOGY-LONDON

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(2012) Michela Murdocca et al.   MOLECULAR MEDICINE

Activation of fast skeletal muscle troponin as a potential therapeutic approach for treating neuromuscular diseases

(2012) Alan J Russell et al.   NATURE MEDICINE

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

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

G.P.98 Dysfunction of the neuromuscular junction in patients with spinal muscular atrophy type 2 and 3

(2012) W.L. Van der Pol et al.   NEUROMUSCULAR DISORDERS

Morphological Characteristics of Motor Neurons Do Not Determine Their Relative Susceptibility to Degeneration in a Mouse Model of Severe Spinal Muscular Atrophy

(2012) Sophie R. Thomson et al.   PLoS One

Spinal muscular atrophy: going beyond the motor neuron

(2012) Gillian Hamilton et al.   TRENDS IN MOLECULAR MEDICINE

Molecular mechanisms underlying maturation and maintenance of the vertebrate neuromuscular junction

(2012) Lei Shi et al.   TRENDS IN NEUROSCIENCES

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

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

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

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

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

Wilmington Robotic Exoskeleton

(2011) Thierry Haumont et al.   JOURNAL OF PEDIATRIC ORTHOPAEDICS

Systemic Gene Delivery in Large Species for Targeting Spinal Cord, Brain, and Peripheral Tissues for Pediatric Disorders

(2011) Adam K Bevan 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

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

Plastin 3 expression in discordant spinal muscular atrophy (SMA) siblings

(2011) Sara Bernal et al.   NEUROMUSCULAR DISORDERS

Transgenic inactivation of murine myostatin does not decrease the severity of disease in a model of Spinal Muscular Atrophy

(2011) Hansjörg Rindt et al.   NEUROMUSCULAR DISORDERS

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

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

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

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

Riluzole pharmacokinetics in young patients with spinal muscular atrophy

(2010) Chadi Abbara et al.   BRITISH JOURNAL OF CLINICAL PHARMACOLOGY

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

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

Prevalence of Serum IgG and Neutralizing Factors Against Adeno-Associated Virus (AAV) Types 1, 2, 5, 6, 8, and 9 in the Healthy Population: Implications for Gene Therapy Using AAV Vectors

(2010) Sylvie Boutin et al.   HUMAN GENE THERAPY

Combination of SMN Trans-Splicing and a Neurotrophic Factor Increases the Life Span and Body Mass in a Severe Model of Spinal Muscular Atrophy

(2010) Monir Shababi et al.   HUMAN GENE THERAPY

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

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

The c.859G>C variant in the SMN2 gene is associated with types II and III SMA and originates from a common ancestor

(2010) S. Bernal et al.   JOURNAL OF MEDICAL GENETICS

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

Neuromuscular defects and breathing disorders in a new mouse model of spinal muscular atrophy

(2010) Magali Michaud et al.   NEUROBIOLOGY OF DISEASE

Ultrastructural changes in diaphragm neuromuscular junctions in a severe mouse model for Spinal Muscular Atrophy and their prevention by bifunctional U7 snRNA correcting SMN2 splicing

(2010) Tilman Voigt et al.   NEUROMUSCULAR DISORDERS

Ultrasound evaluation of fetal movements in pregnancies at risk for severe spinal muscular atrophy

(2010) Juan Parra et al.   NEUROMUSCULAR DISORDERS

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 Positive Modifier of Spinal Muscular Atrophy in the SMN2 Gene

(2009) Thomas W. Prior et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Inhibition of myostatin does not ameliorate disease features of severe spinal muscular atrophy mice

(2009) Charlotte J. Sumner et al.   HUMAN MOLECULAR GENETICS

A rareSMN2variant in a previously unrecognized composite splicing regulatory element induces exon 7 inclusion and reduces the clinical severity of spinal muscular atrophy

(2009) Myriam Vezain et al.   HUMAN MUTATION

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

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

Vascular Perfusion Abnormalities in Infants with Spinal Muscular Atrophy

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

SMN, profilin IIa and plastin 3: A link between the deregulation of actin dynamics and SMA pathogenesis

(2009) Mélissa Bowerman et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick?

(2009) Arthur H. M. Burghes et al.   NATURE REVIEWS NEUROSCIENCE

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

(2009) Dirk Bäumer et al.   PLoS Genetics

SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing

(2008) Zhenxi Zhang et al.   CELL

Unaffected patients with a homozygous absence of the SMN1 gene

(2008) Maria Jędrzejowska et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

SMN complex localizes to the sarcomeric Z-disc and is a proteolytic target of calpain

(2008) Michael P. Walker et al.   HUMAN MOLECULAR GENETICS

A natural history study of late onset spinal muscular atrophy types 3b and 4

(2008) S. Piepers et al.   JOURNAL OF NEUROLOGY

Exercise-Induced Activation of NMDA Receptor Promotes Motor Unit Development and Survival in a Type 2 Spinal Muscular Atrophy Model Mouse

(2008) O. Biondi et al.   JOURNAL OF NEUROSCIENCE

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Plastin 3 Is a Protective Modifier of Autosomal Recessive Spinal Muscular Atrophy

(2008) G. E. Oprea et al.   SCIENCE