Motor Neuron Gene Therapy: Lessons from Spinal Muscular Atrophy for Amyotrophic Lateral Sclerosis

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

(2017) N N Singh et al.   GENE THERAPY

Systemic injection of AAV9-GDNF provides modest functional improvements in the SOD1G93A ALS rat but has adverse side effects

(2017) G M Thomsen 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

Therapeutic approaches for spinal muscular atrophy (SMA)

(2017) M Scoto et al.   GENE THERAPY

Linking amyotrophic lateral sclerosis and spinal muscular atrophy through RNA-transcriptome homeostasis: a genomics perspective

(2017) Margarida Gama-Carvalho et al.   JOURNAL OF NEUROCHEMISTRY

A multi-source approach to determine SMA incidence and research ready population

(2017) Ingrid E. C. Verhaart et al.   JOURNAL OF NEUROLOGY

Edaravone: a new treatment for ALS on the horizon?

(2017) Orla Hardiman et al.   LANCET NEUROLOGY

Safety and efficacy of edaravone in well defined patients with amyotrophic lateral sclerosis: a randomised, double-blind, placebo-controlled trial

(2017) Koji Abe et al.   LANCET NEUROLOGY

A New AAV10-U7-Mediated Gene Therapy Prolongs Survival and Restores Function in an ALS Mouse Model

(2017) Maria Grazia Biferi et al.   MOLECULAR THERAPY

Therapeutic reduction of ataxin-2 extends lifespan and reduces pathology in TDP-43 mice

(2017) Lindsay A. Becker et al.   NATURE

Engineered AAVs for efficient noninvasive gene delivery to the central and peripheral nervous systems

(2017) Ken Y Chan et al.   NATURE NEUROSCIENCE

Spinal muscular atrophy: Factors that modulate motor neurone vulnerability

(2017) Wen-Yo Tu et al.   NEUROBIOLOGY OF DISEASE

Clinical tests of neurotrophic factors for human neurodegenerative diseases, part 2: Where do we stand and where must we go next?

(2017) Raymond T. Bartus et al.   NEUROBIOLOGY OF DISEASE

Clinical tests of neurotrophic factors for human neurodegenerative diseases, part 1: Where have we been and what have we learned?

(2017) Raymond T. Bartus et al.   NEUROBIOLOGY OF DISEASE

Urinary p75 ECD

(2017) Stephanie R. Shepheard et al.   NEUROLOGY

Spinal muscular atrophy: A changing phenotype beyond the clinical trials

(2017) Eduardo F. Tizzano et al.   NEUROMUSCULAR DISORDERS

The Antisense Transcript SMN-AS1 Regulates SMN Expression and Is a Novel Therapeutic Target for Spinal Muscular Atrophy

(2017) Constantin d’Ydewalle et al.   NEURON

TIA1 Mutations in Amyotrophic Lateral Sclerosis and Frontotemporal Dementia Promote Phase Separation and Alter Stress Granule Dynamics

(2017) Ian R. Mackenzie et al.   NEURON

Slow Intrathecal Injection of rAAVrh10 Enhances its Transduction of Spinal Cord and Therapeutic Efficacy in a Mutant SOD1 Model of ALS

(2017) Dongxiao Li et al.   NEUROSCIENCE

The Actin Cytoskeleton in SMA and ALS: How Does It Contribute to Motoneuron Degeneration?

(2017) Niko Hensel et al.   NEUROSCIENTIST

Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy

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

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown 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

Prevalence, incidence and carrier frequency of 5q–linked spinal muscular atrophy – a literature review

(2017) Ingrid E. C. Verhaart et al.   Orphanet Journal of Rare Diseases

Gene activation of SMN by selective disruption of lncRNA-mediated recruitment of PRC2 for the treatment of spinal muscular atrophy

(2017) Caroline J. Woo et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Identification of a Peptide for Systemic Brain Delivery of a Morpholino Oligonucleotide in Mouse Models of Spinal Muscular Atrophy

(2017) Fazel Shabanpoor et al.   Nucleic Acid Therapeutics

Functional interaction between FUS and SMN underlies SMA-like splicing changes in wild-type hFUS mice

(2017) Alessia Mirra et al.   Scientific Reports

Single-Cell Analysis of SMN Reveals Its Broader Role in Neuromuscular Disease

(2017) Natalia Rodriguez-Muela et al.   Cell Reports

ALS Clinical Trials Review: 20 Years of Failure. Are We Any Closer to Registering a New Treatment?

(2017) Dmitry Petrov et al.   Frontiers in Aging Neuroscience

The benefit of evolving multidisciplinary care in ALS: a diagnostic cohort survival comparison

(2017) Sarah Martin et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Open label study to assess the safety of VM202 in subjects with amyotrophic lateral sclerosis

(2017) Robert L. Sufit et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

The Enigmatic Role of C9ORF72 in Autophagy

(2017) Melissa Nassif et al.   Frontiers in Neuroscience

Improving the Delivery of SOD1 Antisense Oligonucleotides to Motor Neurons Using Calcium Phosphate-Lipid Nanoparticles

(2017) Liyu Chen et al.   Frontiers in Neuroscience

Viral Vector-Mediated Antisense Therapy for Genetic Diseases

(2017) Marine Imbert et al.   Genes

Additive amelioration of ALS by co-targeting independent pathogenic mechanisms

(2017) Ashley E. Frakes et al.   Annals of Clinical and Translational Neurology

TIA1 is a gender-specific disease modifier of a mild mouse model of spinal muscular atrophy

(2017) Matthew D. Howell et al.   Scientific Reports

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

Vascular Defects and Spinal Cord Hypoxia in Spinal Muscular Atrophy

(2016) Eilidh Somers et al.   ANNALS OF NEUROLOGY

Adeno-associated virus-delivered artificial microRNA extends survival and delays paralysis in an amyotrophic lateral sclerosis mouse model

(2016) Lorelei Stoica et al.   ANNALS OF NEUROLOGY

NEK1mutations in familial amyotrophic lateral sclerosis

(2016) David Brenner et al.   BRAIN

Non-neuronal Cells in ALS: Role of Glial, Immune cells and Blood-CNS Barriers

(2016) Fabiola Puentes et al.   BRAIN PATHOLOGY

scAAV9-VEGF prolongs the survival of transgenic ALS mice by promoting activation of M2 microglia and the PI3K/Akt pathway

(2016) Ying Wang et al.   BRAIN RESEARCH

Minor intron splicing is regulated by FUS and affected by ALS‐associated FUS mutants

(2016) Stefan Reber et al.   EMBO JOURNAL

Toxic gain of function from mutant FUS protein is crucial to trigger cell autonomous motor neuron loss

(2016) Jelena Scekic‐Zahirovic et al.   EMBO JOURNAL

Therapeutic rAAVrh10 MediatedSOD1Silencing in AdultSOD1G93AMice and Nonhuman Primates

(2016) Florie Borel et al.   HUMAN GENE THERAPY

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

Enhancing survival motor neuron expression extends lifespan and attenuates neurodegeneration in mutant TDP-43 mice

(2016) Nirma D. Perera et al.   HUMAN MOLECULAR GENETICS

Defective control of pre–messenger RNA splicing in human disease

(2016) Benoit Chabot et al.   JOURNAL OF CELL BIOLOGY

Intrathecal Injections in Children With Spinal Muscular Atrophy

(2016) Manon Haché et al.   JOURNAL OF CHILD NEUROLOGY

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

(2016) Richard S Finkel et al.   LANCET

Intramuscular Delivery of scAAV9-hIGF1 Prolongs Survival in the hSOD1G93A ALS Mouse Model via Upregulation of D-Amino Acid Oxidase

(2016) HuiQian Lin et al.   MOLECULAR NEUROBIOLOGY

C9ORF72 Regulates Stress Granule Formation and Its Deficiency Impairs Stress Granule Assembly, Hypersensitizing Cells to Stress

(2016) Niran Maharjan et al.   MOLECULAR NEUROBIOLOGY

Somatic Therapy of a Mouse SMA Model with a U7 snRNA Gene Correcting SMN2 Splicing

(2016) Philipp Odermatt et al.   MOLECULAR THERAPY

Decoding ALS: from genes to mechanism

(2016) J. Paul Taylor et al.   NATURE

Cre-dependent selection yields AAV variants for widespread gene transfer to the adult brain

(2016) Benjamin E Deverman et al.   NATURE BIOTECHNOLOGY

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

(2016) Wouter van Rheenen et al.   NATURE GENETICS

Neuregulin-1 promotes functional improvement by enhancing collateral sprouting in SOD1G93A ALS mice and after partial muscle denervation

(2016) Renzo Mancuso et al.   NEUROBIOLOGY OF DISEASE

Intrathecal Delivery of ssAAV9-DAO Extends Survival in SOD1G93A ALS Mice

(2016) Wan Wang et al.   NEUROCHEMICAL RESEARCH

Results from a phase 1 study of nusinersen (ISIS-SMNRx) in children with spinal muscular atrophy

(2016) Claudia A. Chiriboga et al.   NEUROLOGY

Gain of Toxicity from ALS/FTD-Linked Repeat Expansions in C9ORF72 Is Alleviated by Antisense Oligonucleotides Targeting GGGGCC-Containing RNAs

(2016) Jie Jiang et al.   NEURON

Systemic peptide-mediated oligonucleotide therapy improves long-term survival in spinal muscular atrophy

(2016) Suzan M. Hammond et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Differential neuronal vulnerability identifies IGF-2 as a protective factor in ALS

(2016) Ilary Allodi et al.   Scientific Reports

Multicenter validation of CSF neurofilaments as diagnostic biomarkers for ALS

(2016) Patrick Oeckl et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

The C9ORF72 GGGGCC expansion forms RNA G-quadruplex inclusions and sequesters hnRNP H to disrupt splicing in ALS brains

(2016) Erin G Conlon et al.   eLife

αCAR IGF-1 vector targeting of motor neurons ameliorates disease progression in ALS mice

(2016) Ioanna Eleftheriadou et al.   Annals of Clinical and Translational Neurology

Morpholino-mediated SOD1 reduction ameliorates an amyotrophic lateral sclerosis disease phenotype

(2016) M. Nizzardo et al.   Scientific Reports

Targeting Motor End Plates for Delivery of Adenoviruses: An Approach to Maximize Uptake and Transduction of Spinal Cord Motor Neurons

(2016) Andrew Paul Tosolini et al.   Scientific Reports

Cortical synaptic and dendritic spine abnormalities in a presymptomatic TDP-43 model of amyotrophic lateral sclerosis

(2016) Matthew J. Fogarty et al.   Scientific Reports

Pharmacokinetics, biodistribution and cell uptake of antisense oligonucleotides

(2015) Richard S. Geary et al.   ADVANCED DRUG DELIVERY REVIEWS

Antisense oligonucleotides in therapy for neurodegenerative disorders

(2015) Melvin M. Evers et al.   ADVANCED DRUG DELIVERY REVIEWS

Improvement of SMN2 Pre-mRNA Processing Mediated by Exon-Specific U1 Small Nuclear RNA

(2015) Andrea Dal Mas et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Current developments in gene therapy for amyotrophic lateral sclerosis

(2015) Joseph M Scarrott et al.   EXPERT OPINION ON BIOLOGICAL THERAPY

Motor neuron cell-nonautonomous rescue of spinal muscular atrophy phenotypes in mild and severe transgenic mouse models

(2015) Yimin Hua et al.   GENES & DEVELOPMENT

Repeated low doses of morpholino antisense oligomer: an intermediate mouse model of spinal muscular atrophy to explore the window of therapeutic response

(2015) Haiyan Zhou et al.   HUMAN MOLECULAR GENETICS

Multifactorial Gene Therapy Enhancing the Glutamate Uptake System and Reducing Oxidative Stress Delays Symptom Onset and Prolongs Survival in the SOD1-G93A ALS Mouse Model

(2015) Chen Benkler et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Disease Mechanisms and Therapeutic Approaches in Spinal Muscular Atrophy

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

Motor Cortex Layer V Pyramidal Neurons Exhibit Dendritic Regression, Spine Loss, and Increased Synaptic Excitation in the Presymptomatic hSOD1G93A Mouse Model of Amyotrophic Lateral Sclerosis

(2015) M. J. Fogarty et al.   JOURNAL OF NEUROSCIENCE

Widespread and Efficient Transduction of Spinal Cord and Brain Following Neonatal AAV Injection and Potential Disease Modifying Effect in ALS Mice

(2015) Jacob I Ayers et al.   MOLECULAR THERAPY

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

Genetic compensation induced by deleterious mutations but not gene knockdowns

(2015) Andrea Rossi et al.   NATURE

Haploinsufficiency of TBK1 causes familial ALS and fronto-temporal dementia

(2015) Axel Freischmidt et al.   NATURE NEUROSCIENCE

Neurofilament light chain: A prognostic biomarker in amyotrophic lateral sclerosis

(2015) C.-H. Lu et al.   NEUROLOGY

The effect of the DcpS inhibitor D156844 on the protective action of follistatin in mice with spinal muscular atrophy

(2015) Ashlee W. Harris et al.   NEUROMUSCULAR DISORDERS

Challenges in the Understanding and Treatment of Amyotrophic Lateral Sclerosis/Motor Neuron Disease

(2015) Jeffrey Rosenfeld et al.   Neurotherapeutics

U1 snRNP is mislocalized in ALS patient fibroblasts bearing NLS mutations in FUS and is required for motor neuron outgrowth in zebrafish

(2015) Yong Yu et al.   NUCLEIC ACIDS RESEARCH

Systemic, postsymptomatic antisense oligonucleotide rescues motor unit maturation delay in a new mouse model for type II/III spinal muscular atrophy

(2015) Laurent P. Bogdanik et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Exome sequencing in amyotrophic lateral sclerosis identifies risk genes and pathways

(2015) E. T. Cirulli et al.   SCIENCE

ALS-causative mutations in FUS/TLS confer gain and loss of function by altered association with SMN and U1-snRNP

(2015) Shuying Sun et al.   Nature Communications

Effect of Combined Systemic and Local Morpholino Treatment on the Spinal Muscular Atrophy Δ7 Mouse Model Phenotype

(2014) Monica Nizzardo et al.   CLINICAL THERAPEUTICS

Gem Depletion: Amyotrophic Lateral Sclerosis and Spinal Muscular Atrophy Crossover

(2014) Ruben J. Cauchi   CNS Neuroscience & Therapeutics

Fishing for causes and cures of motor neuron disorders

(2014) S. A. Patten et al.   Disease Models & Mechanisms

The effect of diet on the protective action of D156844 observed in spinal muscular atrophy mice

(2014) Matthew E.R. Butchbach et al.   EXPERIMENTAL NEUROLOGY

Gene Therapy: A Promising Approach to Treating Spinal Muscular Atrophy

(2014) Pádraig J. Mulcahy et al.   HUMAN GENE THERAPY

Morpholino antisense oligonucleotides targeting intronic repressor Element1 improve phenotype in SMA mouse models

(2014) Erkan Y. Osman 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

Transplanted Modified Muscle Progenitor Cells Expressing a Mixture of Neurotrophic Factors Delay Disease Onset and Enhance Survival in the SOD1 Mouse Model of ALS

(2014) M. Dadon-Nachum et al.   JOURNAL OF MOLECULAR NEUROSCIENCE

Delayed Disease Onset and Extended Survival in the SOD1G93A Rat Model of Amyotrophic Lateral Sclerosis after Suppression of Mutant SOD1 in the Motor Cortex

(2014) G. M. Thomsen et al.   JOURNAL OF NEUROSCIENCE

SMN1 duplications contribute to sporadic amyotrophic lateral sclerosis susceptibility: Evidence from a meta-analysis

(2014) Xue-Bin Wang et al.   JOURNAL OF THE NEUROLOGICAL SCIENCES

Advances in motor neurone disease

(2014) Dirk Bäumer et al.   JOURNAL OF THE ROYAL SOCIETY OF MEDICINE

Clinical trials in amyotrophic lateral sclerosis: why so many negative trials and how can trials be improved?

(2014) Hiroshi Mitsumoto et al.   LANCET NEUROLOGY

Analysis of amyotrophic lateral sclerosis as a multistep process: a population-based modelling study

(2014) Ammar Al-Chalabi et al.   LANCET NEUROLOGY

Adeno-associated Virus–mediated Delivery of a Recombinant Single-chain Antibody Against Misfolded Superoxide Dismutase for Treatment of Amyotrophic Lateral Sclerosis

(2014) Priyanka Patel et al.   MOLECULAR THERAPY

Targeting the motor end plates in the mouse hindlimb gives access to a greater number of spinal cord motor neurons: An approach to maximize retrograde transport

(2014) R. Mohan et al.   NEUROSCIENCE

SOD1 Function and Its Implications for Amyotrophic Lateral Sclerosis Pathology

(2014) Rosie K. A. Bunton-Stasyshyn et al.   NEUROSCIENTIST

Nuclear localization of SMN and FUS is not altered in fibroblasts from patients with sporadic ALS

(2014) Shingo Kariya et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Confirmatory double-blind, parallel-group, placebo-controlled study of efficacy and safety of edaravone (MCI-186) in amyotrophic lateral sclerosis patients

(2014) Koji Abe et al.   Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration

Biology of adeno-associated viral vectors in the central nervous system

(2014) Giridhar Murlidharan et al.   Frontiers in Molecular Neuroscience

ALS as a distal axonopathy: molecular mechanisms affecting neuromuscular junction stability in the presymptomatic stages of the disease

(2014) Elizabeth B. Moloney et al.   Frontiers in Neuroscience

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

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

hnRNP A3 binds to GGGGCC repeats and is a constituent of p62-positive/TDP43-negative inclusions in the hippocampus of patients with C9orf72 mutations

(2013) Kohji Mori et al.   ACTA NEUROPATHOLOGICA

Sodium vanadate combined with l-ascorbic acid delays disease progression, enhances motor performance, and ameliorates muscle atrophy and weakness in mice with spinal muscular atrophy

(2013) Huei-Chun Liu et al.   BMC Medicine

Is SOD1 loss of function involved in amyotrophic lateral sclerosis?

(2013) Rachele A. Saccon et al.   BRAIN

Moving forward in clinical trials for ALS: motor neurons lead the way please

(2013) Barış Genç et al.   DRUG DISCOVERY TODAY

scAAV9 Intracisternal Delivery Results in Efficient Gene Transfer to the Central Nervous System of a Feline Model of Motor Neuron Disease

(2013) Thomas Bucher et al.   HUMAN GENE THERAPY

Decreased number of Gemini of coiled bodies and U12 snRNA level in amyotrophic lateral sclerosis

(2013) Tomohiko Ishihara et al.   HUMAN MOLECULAR GENETICS

Chondrolectin affects cell survival and neuronal outgrowth in in vitro and in vivo models of spinal muscular atrophy

(2013) James N. Sleigh et al.   HUMAN MOLECULAR GENETICS

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

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

Widespread spinal cord transduction by intrathecal injection of rAAV delivers efficacious RNAi therapy for amyotrophic lateral sclerosis

(2013) Hongyan Wang et al.   HUMAN MOLECULAR GENETICS

Method for widespread microRNA-155 inhibition prolongs survival in ALS-model mice

(2013) Erica D. Koval et al.   HUMAN MOLECULAR GENETICS

An antisense oligonucleotide against SOD1 delivered intrathecally for patients with SOD1 familial amyotrophic lateral sclerosis: a phase 1, randomised, first-in-man study

(2013) Timothy M Miller et al.   LANCET NEUROLOGY

Controversies and priorities in amyotrophic lateral sclerosis

(2013) Martin R Turner et al.   LANCET NEUROLOGY

Synergistic Effects of GDNF and VEGF on Lifespan and Disease Progression in a Familial ALS Rat Model

(2013) Dan Krakora et al.   MOLECULAR THERAPY

Therapeutic AAV9-mediated Suppression of Mutant SOD1 Slows Disease Progression and Extends Survival in Models of Inherited ALS

(2013) Kevin D Foust et al.   MOLECULAR THERAPY

Viral Delivery of Antioxidant Genes as a Therapeutic Strategy in Experimental Models of Amyotrophic Lateral Sclerosis

(2013) Aikaterini Nanou et al.   MOLECULAR THERAPY

Dual Masking of Specific Negative Splicing Regulatory Elements Resulted in Maximal Exon 7 Inclusion of SMN2 Gene

(2013) Peng Wen Pao et al.   MOLECULAR THERAPY

Degeneration and impaired regeneration of gray matter oligodendrocytes in amyotrophic lateral sclerosis

(2013) Shin H Kang et al.   NATURE NEUROSCIENCE

State of play in amyotrophic lateral sclerosis genetics

(2013) Alan E Renton et al.   NATURE NEUROSCIENCE

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Overexpression of survival motor neuron improves neuromuscular function and motor neuron survival in mutant SOD1 mice

(2013) Bradley J. Turner et al.   NEUROBIOLOGY OF AGING

Mislocalised FUS mutants stall spliceosomal snRNPs in the cytoplasm

(2013) Valeria Gerbino et al.   NEUROBIOLOGY OF DISEASE

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

Spinal inhibitory circuits and their role in motor neuron degeneration

(2013) Uri Nimrod Ramírez-Jarquín et al.   NEUROPHARMACOLOGY

Glial Promoter Selectivity following AAV-Delivery to the Immature Brain

(2013) Georg von Jonquieres 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

Hexanucleotide Repeats in ALS/FTD Form Length-Dependent RNA Foci, Sequester RNA Binding Proteins, and Are Neurotoxic

(2013) Youn-Bok Lee et al.   Cell Reports

Presymptomatic Treatment with Acetylcholinesterase Antisense Oligonucleotides Prolongs Survival in ALS (G93A-SOD1) Mice

(2013) Gotkine Marc et al.   Biomed Research International

Targeting the Full Length of the Motor End Plate Regions in the Mouse Forelimb Increases the Uptake of Fluoro-Gold into Corresponding Spinal Cord Motor Neurons

(2013) Andrew Paul Tosolini et al.   Frontiers in Neurology

Spliceosome integrity is defective in the motor neuron diseases ALS and SMA

(2012) Hitomi Tsuiji et al.   EMBO Molecular Medicine

Homozygous SMN2 deletion is a protective factor in the Swedish ALS population

(2012) Philippe Corcia et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

Cell-penetrating peptides for the delivery of nucleic acids

(2012) Taavi Lehto et al.   Expert Opinion on Drug Delivery

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

(2012) Shingo Kariya 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

Early pathogenesis in the adult-onset neurodegenerative disease amyotrophic lateral sclerosis

(2012) Brigitte van Zundert et al.   JOURNAL OF CELLULAR BIOCHEMISTRY

Absence of consensus in diagnostic criteria for familial neurodegenerative diseases

(2012) Susan Byrne et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

Nuclear Localization of Human SOD1 and Mutant SOD1-Specific Disruption of Survival Motor Neuron Protein Complex in Transgenic Amyotrophic Lateral Sclerosis Mice

(2012) Barry Gertz et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

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

Pathophysiological Insights Derived by Natural History and Motor Function of Spinal Muscular Atrophy

(2012) Michelle A. Farrar et al.   JOURNAL OF PEDIATRICS

Sialic Acid Deposition Impairs the Utility of AAV9, but Not Peptide-modified AAVs for Brain Gene Therapy in a Mouse Model of Lysosomal Storage Disease

(2012) Yong Hong Chen et al.   MOLECULAR THERAPY

SMN1 gene duplications are associated with sporadic ALS

(2012) H. M. Blauw et al.   NEUROLOGY

Spinal muscular atrophy at the crossroads of basic science and therapy

(2012) James N. Sleigh et al.   NEUROMUSCULAR DISORDERS

Spinal muscular atrophy: going beyond the motor neuron

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

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

(2012) Tomohiro Yamazaki et al.   Cell Reports

SOD1 in Cerebral Spinal Fluid as a Pharmacodynamic Marker for Antisense Oligonucleotide Therapy

(2012) Leah Winer et al.   JAMA Neurology

p62 positive, TDP-43 negative, neuronal cytoplasmic and intranuclear inclusions in the cerebellum and hippocampus define the pathology of C9orf72-linked FTLD and MND/ALS

(2011) Safa Al-Sarraj et al.   ACTA NEUROPATHOLOGICA

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

Invertebrate models of spinal muscular atrophy: Insights into mechanisms and potential therapeutics

(2011) Stuart J. Grice et al.   BIOESSAYS

Familial versus sporadic amyotrophic lateral sclerosis--a false dichotomy?

(2011) K. Talbot   BRAIN

Research advances in gene therapy approaches for the treatment of amyotrophic lateral sclerosis

(2011) Monica Nizzardo et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

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

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

Robust spinal motor neuron transduction following intrathecal delivery of AAV9 in pigs

(2011) T Federici et al.   GENE THERAPY

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

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

Adeno-Associated Virus Serotype 9 Transduction in the Central Nervous System of Nonhuman Primates

(2011) Lluis Samaranch et al.   HUMAN GENE THERAPY

Increasing expression and decreasing degradation of SMN ameliorate the spinal muscular atrophy phenotype in mice

(2011) Deborah Y. Kwon 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

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

Amyotrophic lateral sclerosis

(2011) Matthew C Kiernan et al.   LANCET

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

Long pre-mRNA depletion and RNA missplicing contribute to neuronal vulnerability from loss of TDP-43

(2011) Magdalini Polymenidou et al.   NATURE NEUROSCIENCE

Clinical diagnosis and management of amyotrophic lateral sclerosis

(2011) Orla Hardiman et al.   Nature Reviews Neurology

Gene therapy for amyotrophic lateral sclerosis

(2011) Thais Federici et al.   NEUROBIOLOGY OF DISEASE

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

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

Expanded GGGGCC Hexanucleotide Repeat in Noncoding Region of C9ORF72 Causes Chromosome 9p-Linked FTD and ALS

(2011) Mariely DeJesus-Hernandez et al.   NEURON

A Hexanucleotide Repeat Expansion in C9ORF72 Is the Cause of Chromosome 9p21-Linked ALS-FTD

(2011) Alan E. Renton et al.   NEURON

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

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

Guidelines for preclinical animal research in ALS/MND: A consensus meeting

(2010) Albert C. Ludolph et al.   Amyotrophic Lateral Sclerosis

A Review of the Neural Mechanisms of Action and Clinical Efficiency of Riluzole in Treating Amyotrophic Lateral Sclerosis: What have we Learned in the Last Decade?

(2010) Mark C. Bellingham   CNS Neuroscience & Therapeutics

The role of RNA processing in the pathogenesis of motor neuron degeneration

(2010) Dirk Bäumer et al.   EXPERT REVIEWS IN MOLECULAR MEDICINE

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

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

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

(2010) Elisa Dominguez 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

An estimate of amyotrophic lateral sclerosis heritability using twin data

(2010) A. Al-Chalabi et al.   JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY

TIA1 Prevents Skipping of a Critical Exon Associated with Spinal Muscular Atrophy

(2010) N. N. Singh et al.   MOLECULAR AND CELLULAR BIOLOGY

AAV4-mediated Expression of IGF-1 and VEGF Within Cellular Components of the Ventricular System Improves Survival Outcome in Familial ALS Mice

(2010) James C Dodge et al.   MOLECULAR THERAPY

Neuroprotection by Gene Therapy Targeting Mutant SOD1 in Individual Pools of Motor Neurons Does not Translate Into Therapeutic Benefit in fALS Mice

(2010) Chris Towne et al.   MOLECULAR THERAPY

CNS-targeted Viral Delivery of G-CSF in an Animal Model for ALS: Improved Efficacy and Preservation of the Neuromuscular Unit

(2010) Alexandre Henriques et al.   MOLECULAR THERAPY

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

Wild-type and mutant SOD1 share an aberrant conformation and a common pathogenic pathway in ALS

(2010) Daryl A Bosco et al.   NATURE NEUROSCIENCE

Altered distributions of Gemini of coiled bodies and mitochondria in motor neurons of TDP-43 transgenic mice

(2010) X. Shan et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

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

Treatment strategies for spinal muscular atrophy

(2010) Heidi Fuller et al.   Translational Neuroscience

Neurotrophic growth factors for the treatment of amyotrophic lateral sclerosis: where do we stand ?

(2010) Henriques   Frontiers in Neuroscience

Prognostic factors in ALS: A critical review

(2009) Adriano Chiò et al.   Amyotrophic Lateral Sclerosis

Nerve Injection of Viral Vectors Efficiently Transfers Transgenes into Motor Neurons and Delivers RNAi Therapy Against ALS

(2009) Rui Wu et al.   ANTIOXIDANTS & REDOX SIGNALING

Incidence and lifetime risk of motor neuron disease in the United Kingdom: a population-based study

(2009) A. Alonso et al.   EUROPEAN JOURNAL OF NEUROLOGY

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

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

Non–cell autonomous toxicity in neurodegenerative disorders: ALS and beyond

(2009) Hristelina Ilieva et al.   JOURNAL OF CELL BIOLOGY

TDP-43 is recruited to stress granules in conditions of oxidative insult

(2009) Claudia Colombrita et al.   JOURNAL OF NEUROCHEMISTRY

Intravenous Administration of Self-complementary AAV9 Enables Transgene Delivery to Adult Motor Neurons

(2009) Sandra Duque et al.   MOLECULAR THERAPY

Survival motor neuron deficiency enhances progression in an amyotrophic lateral sclerosis mouse model

(2009) Bradley J. Turner et al.   NEUROBIOLOGY OF DISEASE

The effect of mutant SOD1 dismutase activity on non-cell autonomous degeneration in familial amyotrophic lateral sclerosis

(2009) Lijun Wang et al.   NEUROBIOLOGY OF DISEASE

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

Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice

(2008) Yimin Hua et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Design, power, and interpretation of studies in the standard murine model of ALS

(2008) Sean Scott et al.   Amyotrophic Lateral Sclerosis

Sustained improvement of spinal muscular atrophy mice treated with trichostatin a plus nutrition

(2008) Heather L. Narver et al.   ANNALS OF NEUROLOGY

The multifunctional FUS, EWS and TAF15 proto-oncoproteins show cell type-specific expression patterns and involvement in cell spreading and stress response

(2008) Mattias K Andersson et al.   BMC CELL BIOLOGY

Treatment with edaravone, initiated at symptom onset, slows motor decline and decreases SOD1 deposition in ALS mice

(2008) Hidefumi Ito et al.   EXPERIMENTAL NEUROLOGY

Rescue of a severe mouse model for spinal muscular atrophy by U7 snRNA-mediated splicing modulation

(2008) Kathrin Meyer et al.   HUMAN MOLECULAR GENETICS

Therapeutic Gene Silencing Delivered by a Chemically Modified Small Interfering RNA against Mutant SOD1 Slows Amyotrophic Lateral Sclerosis Progression

(2008) Hongyan Wang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Sustained striatal ciliary neurotrophic factor expression negatively affects behavior and gene expression in normal and R6/1 mice

(2008) Eileen M. Denovan-Wright et al.   JOURNAL OF NEUROSCIENCE RESEARCH

Direct Muscle Delivery of GDNF With Human Mesenchymal Stem Cells Improves Motor Neuron Survival and Function in a Rat Model of Familial ALS

(2008) Masatoshi Suzuki et al.   MOLECULAR THERAPY

Delivery of AAV-IGF-1 to the CNS Extends Survival in ALS Mice Through Modification of Aberrant Glial Cell Activity

(2008) James C Dodge et al.   MOLECULAR THERAPY

Transient Immunomodulation Allows Repeated Injections of AAV1 and Correction of Muscular Dystrophy in Multiple Muscles

(2008) Stéphanie Lorain et al.   MOLECULAR THERAPY

Systemic AAV6 Delivery Mediating RNA Interference Against SOD1: Neuromuscular Transduction Does Not Alter Disease Progression in fALS Mice

(2008) Chris Towne et al.   MOLECULAR THERAPY

Analysis of AAV Serotypes 1–9 Mediated Gene Expression and Tropism in Mice After Systemic Injection

(2008) Carmela Zincarelli et al.   MOLECULAR THERAPY

Intravascular AAV9 preferentially targets neonatal neurons and adult astrocytes

(2008) Kevin D Foust et al.   NATURE BIOTECHNOLOGY

Astrocytes as determinants of disease progression in inherited amyotrophic lateral sclerosis

(2008) Koji Yamanaka et al.   NATURE NEUROSCIENCE

Intraspinal cord delivery of IGF-I mediated by adeno-associated virus 2 is neuroprotective in a rat model of familial ALS

(2008) Colin K. Franz et al.   NEUROBIOLOGY OF DISEASE

TDP-43 Mutations in Familial and Sporadic Amyotrophic Lateral Sclerosis

(2008) J. Sreedharan et al.   SCIENCE