Research graph
References from Extracellular vesicles as biomarkers of disease progression and therapeutic response in patients with spinal muscular atrophy. Local targets link to admitted publications; unresolved targets remain external evidence.
Identification and characterization of a spinal muscular atrophy-determining gene
10.1016/0092-8674(95)90460-3 · 1995 · External reference
Newborn Screening and Birth Prevalence for Spinal Muscular Atrophy in the US
10.1001/jamapediatrics.2024.1911 · 2024 · External reference
Spinal Muscular Atrophy: More than a Disease of Motor Neurons?
10.2174/1566524016666161128113338 · 2016 · External reference
Overturning the Paradigm of Spinal Muscular Atrophy as Just a Motor Neuron Disease
10.1016/j.pediatrneurol.2020.01.003 · 2020 · External reference
Correlation between severity and SMN protein level in spinal muscular atrophy
10.1038/ng0797-265 · 1997 · External reference
The survival motor neuron protein in spinal muscular atrophy
10.1093/hmg/6.8.1205 · 1997 · External reference
Association between centromeric deletions of the SMN gene and sporadic adult-onset lower motor neuron disease
10.1002/ana.410430513 · 1998 · External reference
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2
10.1093/hmg/8.7.1177 · 1999 · External reference
A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy
10.1073/pnas.96.11.6307 · 1999 · External reference
An exonic enhancer is required for inclusion of an essential exon in the SMA-determining gene SMN
10.1093/hmg/9.2.259 · 2000 · External reference
A novel function for the survival motoneuron protein as a translational regulator
10.1093/hmg/dds474 · 2013 · External reference
SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination
10.1038/nature16469 · 2016 · External reference
Smn, the spinal muscular atrophy–determining gene product, modulates axon growth and localization of β-actin mRNA in growth cones of motoneurons
10.1083/jcb.200304128 · 2003 · External reference
alpha-COP binding to the survival motor neuron protein SMN is required for neuronal process outgrowth
10.1093/hmg/ddv428 · 2015 · External reference
The spinal muscular atrophy disease protein SMN is linked to the Golgi network
10.1371/journal.pone.0051826 · 2012 · External reference
Ribonucleoprotein Assembly Defects Correlate with Spinal Muscular Atrophy Severity and Preferentially Affect a Subset of Spliceosomal snRNPs
10.1371/journal.pone.0000921 · 2007 · External reference
SMN Deficiency Causes Tissue-Specific Perturbations in the Repertoire of snRNAs and Widespread Defects in Splicing
10.1016/j.cell.2008.03.031 · 2008 · External reference
SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis
10.1016/j.mcn.2009.05.009 · 2009 · External reference
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model
10.1093/hmg/ddq021 · 2010 · External reference
Antisense Masking of an hnRNP A1/A2 Intronic Splicing Silencer Corrects SMN2 Splicing in Transgenic Mice
10.1016/j.ajhg.2008.01.014 · 2008 · External reference
Peripheral SMN restoration is essential for long-term rescue of a severe SMA mouse model
10.1038/nature10485 · 2011 · External reference
Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy
10.1056/nejmoa1702752 · 2017 · External reference
Patients' Perceptions of Nusinersen Effects According to Their Responder Status
10.3390/jcm13123418 · 2024 · External reference
High-dose nusinersen for spinal muscular atrophy: a phase 3 randomized trial
10.1038/s41591-025-04193-6 · 2026 · External reference
Onasemnogene Abeparvovec: First Global Approval
10.1007/s40265-019-01162-5 · 2019 · External reference
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy
10.1056/nejmoa1706198 · 2017 · External reference
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
10.1016/s1474-4422(21)00001-6 · 2021 · External reference
Onasemnogene abeparvovec gene therapy for symptomatic infantile-onset spinal muscular atrophy type 1 (STR1VE-EU): an open-label, single-arm, multicentre, phase 3 trial
10.1016/s1474-4422(21)00251-9 · 2021 · External reference
Safety and Efficacy of IV Onasemnogene Abeparvovec for Pediatric Patients With Spinal Muscular Atrophy: The Phase 3b SMART Study
10.1212/wnl.0000000000210268 · 2025 · External reference
Challenges and opportunities in spinal muscular atrophy therapeutics
10.1016/s1474-4422(23)00419-2 · 2024 · External reference
Combination disease-modifying treatment in spinal muscular atrophy: A proposed classification
10.1002/acn3.51889 · 2023 · External reference
Experience and Perspectives in the US on the Evolving Treatment Landscape in Spinal Muscular Atrophy
10.2147/ijgm.s369021 · 2022 · External reference
Expanding the Availability of Onasemnogene Abeparvovec to Older Patients: The Evolving Treatment Landscape for Spinal Muscular Atrophy
10.3390/pharmaceutics15061764 · 2023 · External reference
Intrathecal Onasemnogene Abeparvovec for Sitting, Nonambulatory Patients with Spinal Muscular Atrophy: Phase I Ascending-Dose Study (STRONG)
10.3233/jnd-221560 · 2023 · External reference
Intrathecal onasemnogene abeparvovec for treatment-experienced patients with spinal muscular atrophy: a phase 3b, open-label trial
10.1038/s41591-025-04119-2 · 2026 · External reference
Intrathecal onasemnogene abeparvovec in treatment-naive patients with spinal muscular atrophy: a phase 3, randomized controlled trial
10.1038/s41591-025-04103-w · 2026 · External reference
Risdiplam: First Approval
10.1007/s40265-020-01410-z · 2020 · External reference
A phase 1 healthy male volunteer single escalating dose study of the pharmacokinetics and pharmacodynamics of risdiplam (RG7916, RO7034067), a SMN2 splicing modifier
10.1111/bcp.13786 · 2019 · External reference
Risdiplam in Type 1 Spinal Muscular Atrophy
10.1056/nejmoa2009965 · 2021 · External reference
The Children's Hospital of Philadelphia Infant Test of Neuromuscular Disorders (CHOP INTEND): test development and reliability
10.1016/j.nmd.2009.11.014 · 2010 · External reference
Update on Biomarkers in Spinal Muscular Atrophy
10.1177/11772719211035643 · 2021 · External reference
Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls
10.1371/journal.pone.0139950 · 2015 · External reference
Analysis of the mRNA transcripts of the survival motor neuron (SMN) gene in the tissue of an SMA fetus and the peripheral blood mononuclear cells of normals, carriers and SMA patients
10.1016/s0022-510x(99)00325-1 · 2000 · External reference
Evaluation of Peripheral Blood Mononuclear Cell Processing and Analysis for Survival Motor Neuron Protein
10.1371/journal.pone.0050763 · 2012 · External reference
Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study
10.1002/acn3.283 · 2016 · External reference
A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls
10.1371/journal.pone.0167087 · 2016 · External reference
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol
10.1136/jmedgenet-2018-105482 · 2019 · External reference
Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study
10.1371/journal.pone.0035462 · 2012 · External reference
SMA-MAP: a plasma protein panel for spinal muscular atrophy
10.1371/journal.pone.0060113 · 2013 · External reference
Identifying Biomarkers of Spinal Muscular Atrophy for Further Development
10.3233/jnd-230054 · 2023 · External reference
Neurofilament as a potential biomarker for spinal muscular atrophy
10.1002/acn3.779 · 2019 · External reference
Neurochemical markers in CSF of adolescent and adult SMA patients undergoing nusinersen treatment
10.1177/1756286419846058 · 2019 · External reference
Neurofilament light chain and profilin-1 dynamics in 30 spinal muscular atrophy type 3 patients treated with nusinersen
10.1111/ene.16393 · 2024 · External reference
Neurofilament Light Chain as a Biomarker, and Correlation with Magnetic Resonance Imaging in Diagnosis of CNS-Related Disorders
10.1007/s12035-019-01698-3 · 2020 · External reference
Cerebrospinal fluid proteomic profiling in nusinersen-treated patients with spinal muscular atrophy
10.1111/jnc.14953 · 2020 · External reference
Cerebrospinal Fluid Proteomic Changes after Nusinersen in Patients with Spinal Muscular Atrophy
10.3390/jcm12206696 · 2023 · External reference
Cathepsin D as biomarker in cerebrospinal fluid of nusinersen-treated patients with spinal muscular atrophy
10.1111/ene.15331 · 2022 · External reference
Thrombospondin-4 as potential cerebrospinal fluid biomarker for therapy response in pediatric spinal muscular atrophy
10.1007/s00415-024-12670-0 · 2024 · External reference
Multi-omics profiling in spinal muscular atrophy (SMA): investigating lipid and metabolic alterations through longitudinal CSF analysis of Nusinersen-treated patients
10.1007/s00415-025-12909-4 · 2025 · External reference
Identifying novel response markers for spinal muscular atrophy revealed by targeted proteomics following gene therapy
10.1038/s41434-025-00513-0 · 2026 · External reference
Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy
10.1007/s00018-024-05426-6 · 2024 · External reference
Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy
10.1038/s41598-017-14313-z · 2017 · External reference
Label-free quantitative proteomic analysis of extracellular vesicles released from fibroblasts derived from patients with spinal muscular atrophy
10.1002/pmic.202000301 · 2021 · External reference
Biological properties of extracellular vesicles and their physiological functions
10.3402/jev.v4.27066 · 2015 · External reference
Plasma neuronal exosomes serve as biomarkers of cognitive impairment in HIV infection and Alzheimer's disease
10.1007/s13365-018-0695-4 · 2019 · External reference
The emerging role of exosomes in mental disorders
10.1038/s41398-019-0459-9 · 2019 · External reference
Extracellular Vesicles as Therapeutics for Brain Injury and Disease
10.2174/1381612825666191014164950 · 2019 · External reference
Extracellular vesicles: Novel promising delivery systems for therapy of brain diseases
10.1016/j.jconrel.2017.07.001 · 2017 · External reference
DNA sequences within glioma-derived extracellular vesicles can cross the intact blood-brain barrier and be detected in peripheral blood of patients
10.18632/oncotarget.13635 · 2017 · External reference
Glioblastoma microvesicles transport RNA and proteins that promote tumour growth and provide diagnostic biomarkers
10.1038/ncb1800 · 2008 · External reference
Delivery of Therapeutic Agents to the Central Nervous System and the Promise of Extracellular Vesicles
10.3390/pharmaceutics13040492 · 2021 · External reference
Exomap1 mouse: a transgenic model for in vivo studies of exosome biology
10.1016/j.vesic.2023.100030 · 2023 · External reference
Bioengineering extracellular vesicle cargo for optimal therapeutic efficiency
10.1016/j.omtm.2024.101259 · 2024 · External reference
Extracellular vesicles efficiently deliver survival motor neuron protein to cells in culture
10.1038/s41598-025-90083-3 · 2025 · External reference
Membrane vesicles, current state-of-the-art: emerging role of extracellular vesicles
10.1007/s00018-011-0689-3 · 2011 · External reference
Extracellular vesicles, new actors in the search for biomarkers of dementias
10.1016/j.neurobiolaging.2018.10.006 · 2019 · External reference
Limited role of free TDP-43 as a diagnostic tool in neurodegenerative diseases
10.3109/21678421.2014.905606 · 2014 · External reference
Identification of preclinical Alzheimer's disease by a profile of pathogenic proteins in neurally derived blood exosomes: A case-control study
10.1016/j.jalz.2014.06.008 · 2015 · External reference
Identification of distinct circulating exosomes in Parkinson's disease
10.1002/acn3.175 · 2015 · External reference
Utility of Neuronal-Derived Exosomes to Examine Molecular Mechanisms That Affect Motor Function in Patients With Parkinson Disease: A Secondary Analysis of the Exenatide-PD Trial
10.1001/jamaneurol.2018.4304 · 2019 · External reference
Blood neuron-derived exosomes as biomarkers of cognitive impairment in HIV
10.1097/qad.0000000000001595 · 2017 · External reference
Higher exosomal tau, amyloid-beta 42 and IL-10 are associated with mild TBIs and chronic symptoms in military personnel
10.1080/02699052.2018.1471738 · 2018 · External reference
An expanded version of the Hammersmith Functional Motor Scale for SMA II and III patients
10.1016/j.nmd.2007.05.009 · 2007 · External reference
Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III
10.1177/0883073811420294 · 2011 · External reference
Prospective cohort study of spinal muscular atrophy types 2 and 3
10.1212/wnl.0b013e318271f7e4 · 2012 · External reference
What is the blood concentration of extracellular vesicles? Implications for the use of extracellular vesicles as blood-borne biomarkers of cancer
10.1016/j.bbcan.2018.11.006 · 2019 · External reference
Advances in extracellular vesicle isolation methods: a path towards cell-type specific EV isolation
10.20517/evcna.2023.14 · 2023 · External reference
Minimal information for studies of extracellular vesicles 2018 (MISEV2018): a position statement of the International Society for Extracellular Vesicles and update of the MISEV2014 guidelines
10.1080/20013078.2018.1535750 · 2018 · External reference
Minimal information for studies of extracellular vesicles (MISEV2023): From basic to advanced approaches
10.1002/jev2.12404 · 2024 · External reference
Opening the window: the care for carrier and perinatal screening for spinal muscular atrophy
10.1016/j.nmd.2016.06.459 · 2016 · External reference
Early treatment is a lifeline for infants with SMA
10.1038/s41591-022-01889-x · 2022 · External reference
Onasemnogene abeparvovec for presymptomatic infants with two copies of SMN2 at risk for spinal muscular atrophy type 1: the Phase III SPR1NT trial
10.1038/s41591-022-01866-4 · 2022 · External reference
Onasemnogene abeparvovec for presymptomatic infants with three copies of SMN2 at risk for spinal muscular atrophy: the Phase III SPR1NT trial
10.1038/s41591-022-01867-3 · 2022 · External reference
Systematic Review and Meta-analysis of Long-Term Nusinersen Effectiveness in Adolescents and Adults with Spinal Muscular Atrophy
10.1007/s12325-025-03260-1 · 2025 · External reference
Assessment of safety and efficacy of risdiplam treatment in adults with spinal muscular atrophy
2025 · External reference
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy
10.1002/acn3.50855 · 2019 · External reference
Nanoparticle analysis of circulating cell-derived vesicles in ovarian cancer patients
10.1016/j.ab.2012.06.004 · 2012 · External reference
Altered Extracellular Vesicle Concentration, Cargo, and Function in Diabetes
10.2337/db17-1308 · 2018 · External reference
Microvesicles as cell-cell messengers in cardiovascular diseases
10.1161/circresaha.113.300858 · 2014 · External reference
Circulating small extracellular vesicles in Alzheimer's disease: a case-control study of neuro-inflammation and synaptic dysfunction
10.1186/s12916-024-03475-z · 2024 · External reference
Methodological Guidelines to Study Extracellular Vesicles
10.1161/circresaha.117.309417 · 2017 · External reference
A beginner's guide to study extracellular vesicles in human blood plasma and serum
10.1002/jev2.12400 · 2024 · External reference
Development of a Sensitive Diagnostic Assay for Parkinson Disease Quantifying alpha-Synuclein-Containing Extracellular Vesicles
10.1212/wnl.0000000000011853 · 2021 · External reference
Severe Traumatic Brain Injury Induces Early Changes in the Physical Properties and Protein Composition of Intracranial Extracellular Vesicles
10.1089/neu.2017.5515 · 2019 · External reference
Nanoparticles in 472 Human Cerebrospinal Fluid: Changes in Extracellular Vesicle Concentration and miR-21 Expression as a Biomarker for Leptomeningeal Metastasis
2020 · External reference
Cerebrospinal fluid extracellular vesicles undergo age dependent declines and contain known and novel non-coding RNAs
10.1371/journal.pone.0113116 · 2014 · External reference
Age-Related Changes in Plasma Extracellular Vesicle Characteristics and Internalization by Leukocytes
10.1038/s41598-017-01386-z · 2017 · External reference
Characterization of soluble vs membrane-bound human placental 5'-nucleotidase
10.1016/0006-291x(90)91601-n · 1990 · External reference
Multiple steps determine CD73 shedding from RPE: lipid raft localization, ARA1 interaction, and MMP-9 up-regulation
10.1007/s11302-018-9628-1 · 2018 · External reference
ESCRTs - a multi-purpose membrane remodeling device encoded in all life forms
10.1016/j.tim.2025.01.009 · 2025 · External reference
ESCRT-III: a versatile membrane remodeling machinery and its implications in cellular processes and diseases
10.1080/19768354.2024.2380294 · 2024 · External reference
Ubiquitin-dependent sorting into the multivesicular body pathway requires the function of a conserved endosomal protein sorting complex, ESCRT-I
10.1016/s0092-8674(01)00434-2 · 2001 · External reference
Escrt-III: an endosome-associated heterooligomeric protein complex required for mvb sorting
10.1016/s1534-5807(02)00220-4 · 2002 · External reference
Membrane scission by the ESCRT-III complex
10.1038/nature07836 · 2009 · External reference
The many functions of ESCRTs
10.1038/s41580-019-0177-4 · 2020 · External reference
The midbody interactome reveals unexpected roles for PP1 phosphatases in cytokinesis
10.1038/s41467-019-12507-9 · 2019 · External reference
CHMP2B C-truncating mutations in frontotemporal lobar degeneration are associated with an aberrant endosomal phenotype in vitro
10.1093/hmg/ddm309 · 2008 · External reference
ALS phenotypes with mutations in CHMP2B (charged multivesicular body protein 2B)
10.1212/01.wnl.0000231510.89311.8b · 2006 · External reference
Hereditary spastic paraparesis: a review of new developments
10.1136/jnnp.69.2.150 · 2000 · External reference
alpha-Synuclein interferes with the ESCRT-III complex contributing to the pathogenesis of Lewy body disease
10.1093/hmg/ddv633 · 2016 · External reference
Loss of skywalker reveals synaptic endosomes as sorting stations for synaptic vesicle proteins
10.1016/j.cell.2011.02.039 · 2011 · External reference
Motor and Sensory Deficits in the teetering Mice Result from Mutation of the ESCRT Component HGS
10.1371/journal.pgen.1005290 · 2015 · External reference
The role of ESCRT during development and functioning of the nervous system
10.1016/j.semcdb.2017.08.013 · 2018 · External reference
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice
10.1523/jneurosci.4434-08.2009 · 2009 · External reference
At the “junction” of spinal muscular atrophy pathogenesis: the role of neuromuscular junction dysfunction in SMA disease progression
10.2174/15665240113139990044 · 2013 · External reference
Mass Spectrometry-Based Plasma Proteomics: Considerations from Sample Collection to Achieving Translational Data
10.1021/acs.jproteome.9b00503 · 2019 · External reference
Aptamer-based multiplexed proteomic technology for biomarker discovery
10.1371/journal.pone.0015004 · 2010 · External reference
Variability of 7K and 11K SomaScan Plasma Proteomics Assays
10.1021/acs.jproteome.4c00667 · 2024 · External reference
Assessment of variability in the plasma 7k SomaScan proteomics assay
10.1038/s41598-022-22116-0 · 2022 · External reference