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Survival Motor sentence examples within spinal muscular atrophy



Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen



SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.


Survival Motor sentence examples within neuron 1 gene



Effects of Survival Motor Neuron Protein on Germ Cell Development in Mouse and Human



Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy


Survival Motor sentence examples within motor neuron disease



Muscle regulates mTOR dependent axonal local translation in motor neurons via CTRP3 secretion: implications for a neuromuscular disorder, spinal muscular atrophy



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Survival Motor sentence examples within motor neuron death



FDA approves SMA gene therapy


Survival Motor sentence examples within Functional Survival Motor



Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in Poland.



Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec


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Modular Synthesis of Trifunctional Peptide-oligonucleotide Conjugates via Native Chemical Ligation



Fetal Gene Therapy Using a Single Injection of Recombinant AAV9 Rescued SMA Phenotype in Mice.


Survival Motor sentence examples within Allelic Survival Motor



PND9 EVENT-FREE SURVIVAL AND MOTOR MILESTONE ACHIEVEMENT FOLLOWING AVXS-101 AND NUSINERSEN INTERVENTIONS CONTRASTED TO NATURAL HISTORY FOR TYPE I SPINAL MUSCULAR ATROPHY PATIENTS



250 AVXS-101 phase 3 study in spinal muscular atrophy type 1


Survival Motor sentence examples within survival motor neuron



Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen



SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.


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10.1136/bmjno-2021-000164

Persistent neuromuscular junction transmission defects in adults with spinal muscular atrophy treated with nusinersen



SMN protein is required throughout life to prevent spinal muscular atrophy disease progression.


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10.1016/j.scr.2021.102563

Generation of DMBi002-A human induced pluripotent stem cell line from patient with Spinal muscular atrophy type 3.


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10.1101/2021.07.29.21261322

Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients


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10.1007/s10048-020-00630-5

Detection of SMN1 to SMN2 gene conversion events and partial SMN1 gene deletions using array digital PCR


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10.1007/s00018-021-03819-5

Revisiting the role of mitochondria in spinal muscular atrophy



High Concentration of an ISS-N1-Targeting Antisense Oligonucleotide Causes Massive Perturbation of the Transcriptome



Spinal Muscular Atrophy: Diagnosis, Incidence, and Newborn Screening in Japan


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10.1016/j.jcmgh.2021.01.019

SMN Depleted Mice Offer a Robust and Rapid Onset Model of Nonalcoholic Fatty Liver Disease


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10.1016/j.nbd.2021.105366

Intracellular pathways involved in cell survival are deregulated in mouse and human spinal muscular atrophy motoneurons


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10.1016/j.ijpharm.2021.120398

Endosomal escape cell-penetrating peptides significantly enhance pharmacological effectiveness and CNS activity of systemically administered antisense oligonucleotides.


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10.1016/j.expneurol.2020.113587

Spinal motor neuron loss occurs through a p53-and-p21-independent mechanism in the Smn 2B/− mouse model of spinal muscular atrophy



The Importance of Digging into the Genetics of SMN Genes in the Therapeutic Scenario of Spinal Muscular Atrophy


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10.1172/jci.insight.149446

Combining multiomics and drug perturbation profiles to identify muscle-specific treatments for spinal muscular atrophy



What Genetics Has Told Us and How It Can Inform Future Experiments for Spinal Muscular Atrophy, a Perspective


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10.1186/s40478-021-01223-5

Spinal Muscular Atrophy autophagy profile is tissue-dependent: differential regulation between muscle and motoneurons


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10.5937/scriptamed52-31529

Review of therapeutic options for spinal muscular atrophy


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10.1016/j.omtn.2020.12.027

Targeting the 5′ untranslated region of SMN2 as a therapeutic strategy for spinal muscular atrophy


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10.1038/s41467-021-22627-w

Loss of function mutations in GEMIN5 cause a neurodevelopmental disorder


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10.16288/j.yczz.20-319

Familial study of spinal muscular atrophy carriers with SMN1 (2+0) genotype.


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10.5603/PJNNS.a2021.0020

Nusinersen treatment of Spinal Muscular Atrophy Type 1 - results of expanded access programme in Poland.



Drug Discovery of Spinal Muscular Atrophy (SMA) from the Computational Perspective: A Comprehensive Review


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10.1136/jnnp-2020-324532

Nusinersen in spinal muscular atrophy type 1 from neonates to young adult: 1-year data from three Asia-Pacific regions


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10.1016/j.omtm.2021.02.014

Adeno-associated virus serotype 9 antibodies in patients screened for treatment with onasemnogene abeparvovec


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10.1101/2021.09.13.460053

Dysregulation of the Tweak/Fn14 pathway in skeletal muscle of spinal muscular atrophy mice



Survival motor neuron deficiency slows myoblast fusion through reduced myomaker and myomixer expression



A novel zebrafish model for intermediate type spinal muscular atrophy demonstrates importance of Smn for maintenance of mature motor neurons.



Effects of Survival Motor Neuron Protein on Germ Cell Development in Mouse and Human


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10.1038/s41593-021-00827-3

Gain of toxic function by long-term AAV9-mediated SMN overexpression in the sensory-motor circuit



Intrathecal Administration of Nusinersen Using the Ommaya Reservoir in an Adult with 5q-Related Spinal Muscular Atrophy Type 1 and Severe Spinal Deformity


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10.1212/NXG.0000000000000598

SMN1 Duplications Are Associated With Progressive Muscular Atrophy, but Not With Multifocal Motor Neuropathy and Primary Lateral Sclerosis


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10.3389/fgene.2021.605611

Case Report: Whole-Exome Sequencing With MLPA Revealed Variants in Two Genes in a Patient With Combined Manifestations of Spinal Muscular Atrophy and Duchenne Muscular Dystrophy


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10.1016/j.jns.2021.117485

The potential role of miRNA therapies in spinal muscle atrophy


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10.1126/scitranslmed.abb6871

Impaired prenatal motor axon development necessitates early therapeutic intervention in severe SMA


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10.1016/S1474-4422(21)00001-6

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy in patients with two copies of SMN2 (STR1VE): an open-label, single-arm, multicentre, phase 3 trial



Metabolic Dysfunction in Spinal Muscular Atrophy



Spinal Muscular Atrophy: Mutations, Testing, and Clinical Relevance


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10.21203/rs.3.rs-863046/v1

Copy Number Assessment of SMN1 Based on Real-Time PCR With High-Resolution Melting: Fast and Highly Reliable Testing



Nusinersen Modulates Proteomics Profiles of Cerebrospinal Fluid in Spinal Muscular Atrophy Type 1 Patients



Genomic Variability in the Survival Motor Neuron Genes (SMN1 and SMN2): Implications for Spinal Muscular Atrophy Phenotype and Therapeutics Development


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10.1055/s-0040-1721543

Spinal Muscular Atrophy and Progressive Myoclonic Epilepsy: A Rare Association


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10.1016/j.bbadis.2020.166063

Spinal muscular atrophy: Broad disease spectrum and sex-specific phenotypes.


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10.3343/alm.2021.41.1.101

Detection of Spinal Muscular Atrophy Using a Duplexed Real-Time PCR Approach With Locked Nucleic Acid-Modified Primers


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10.1097/CND.0000000000000333

Delivery of Nusinersen Through an Ommaya Reservoir in Spinal Muscular Atrophy.


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10.1101/2021.07.29.454272

Systemic antibody-oligonucleotide delivery to the central nervous system ameliorates mouse models of spinal muscular atrophy


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10.1136/archdischild-2021-322133

Gene therapy for spinal muscular atropy



Nusinersen improved respiratory function in spinal muscular atrophy type 2


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10.1016/j.celrep.2021.109125

A high-throughput genome-wide RNAi screen identifies modifiers of survival motor neuron protein.



Expert recommendations and clinical considerations in the use of onasemnogene abeparvovec gene therapy for spinal muscular atrophy


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10.3390/brainsci11020131

The Relationship between Body Composition, Fatty Acid Metabolism and Diet in Spinal Muscular Atrophy


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10.1021/acs.jmedchem.0c02173

Use of Intramolecular 1,5-Sulfur-Oxygen and 1,5-Sulfur-Halogen Interactions in the Design of N-Methyl-5-aryl-N-(2,2,6,6-tetramethylpiperidin-4-yl)-1,3,4-thiadiazol-2-amine SMN2 Splicing Modulators.


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10.36346/SARJMS.2021.V03I01.004

New Era of Curative Therapy for Spinal Muscular Atrophy in Children; Do We Need Implementation of Universal Newborn Screening for Spinal Muscular Atrophy?



Time is muscle: A recommendation for early treatment for preterm infants with spinal muscular atrophy



Detection of Spinal Muscular Atrophy Patients Using Dried Saliva Spots


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10.1002/pmic.202000301

Label‐free quantitative proteomic analysis of extracellular vesicles released from fibroblasts derived from patients with spinal muscular atrophy



Alternative Splicing Role in New Therapies of Spinal Muscular Atrophy


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10.1038/s41591-021-01483-7

Biodistribution of onasemnogene abeparvovec DNA, mRNA and SMN protein in human tissue.


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10.3389/fchem.2021.627329

Modular Synthesis of Trifunctional Peptide-oligonucleotide Conjugates via Native Chemical Ligation


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10.3389/fcell.2021.639904

Fluorescence Correlation Spectroscopy Reveals Survival Motor Neuron Oligomerization but No Active Transport in Motor Axons of a Zebrafish Model for Spinal Muscular Atrophy



Selecting disease‐modifying medications in 5q spinal muscular atrophy


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10.1212/cpj.0000000000000872

Molecular Biomarkers for Spinal Muscular Atrophy: A Systematic Review.



Long‐term benefits of nusinersen in a child affected by cystic fibrosis and spinal muscular atrophy type 1


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10.1007/s12031-020-01789-0

Comprehensive Mutation Analysis and Report of 12 Novel Mutations in a Cohort of Patients with Spinal Muscular Atrophy in Iran.



Assembly of higher-order SMN oligomers is essential for metazoan viability and requires an exposed structural motif present in the YG zipper dimer


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10.1016/j.xcrm.2021.100346

Spinal muscular atrophy: From approved therapies to future therapeutic targets for personalized medicine



Guidance on gene replacement therapy in Spinal Muscular Atrophy: a Canadian perspective.


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10.1016/S1474-4422(21)00251-9

Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial


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10.1007/s40259-021-00486-7

Restoring Protein Expression in Neuromuscular Conditions: A Review Assessing the Current State of Exon Skipping/Inclusion and Gene Therapies for Duchenne Muscular Dystrophy and Spinal Muscular Atrophy.



Activation of Muscle-Specific Kinase (MuSK) Reduces Neuromuscular Defects in the Delta7 Mouse Model of Spinal Muscular Atrophy (SMA)


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10.1007/s00109-021-02130-x

Hyper-SUMOylation of SMN induced by SENP2 deficiency decreases its stability and leads to spinal muscular atrophy-like pathology.


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10.1016/j.braindev.2020.07.012

Natural history in spinal muscular atrophy Type I in Taiwanese population: A longitudinal study


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10.5863/1551-6776-26.5.437

Onasemnogene Abeparvovec (AVXS-101) for the Treatment of Spinal Muscular Atrophy.


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10.1016/j.nbd.2021.105488

Dual SMN inducing therapies can rescue survival and motor unit function in symptomatic ∆7SMA mice


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10.1080/13543784.2021.1904889

Therapeutic interventions for spinal muscular atrophy: preclinical and early clinical development opportunities



SMN-primed ribosomes modulate the translation of transcripts related to Spinal Muscular Atrophy


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10.1007/s00439-019-01983-0

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


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10.5863/1551-6776-24.3.194

Nusinersen: A Novel Antisense Oligonucleotide for the Treatment of Spinal Muscular Atrophy.



Muscle overexpression of Klf15 via an AAV8-Spc5-12 construct does not provide benefits in spinal muscular atrophy mice


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10.1016/J.RBMO.2019.04.114

61. PREIMPLANTATION GENETIC TESTING FOR MONOGENIC DISEASE OF SPINAL MUSCULAR ATROPHY BY MULTIPLE DISPLACEMENT AMPLIFICATION: 11 UNAFFECTED LIVEBIRTHS



Motor neuron loss in SMA is not associated with somal stress-activated JNK/c-Jun signaling.


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10.1038/s41598-019-53508-4

SMN complex member Gemin3 self-interacts and has a functional relationship with ALS-linked proteins TDP-43, FUS and Sod1



Nusinersen: Evidence of sustained clinical improvement and lessened fatigue in older ambulatory patients with spinal muscular atrophy


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10.1016/j.nicl.2019.102002

Magnetic resonance imaging of the cervical spinal cord in spinal muscular atrophy


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10.26508/lsa.201800268

Drug screening with human SMN2 reporter identifies SMN protein stabilizers to correct SMA pathology


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