| scholarly article | Q13442814 |
| P819 | ADS bibcode | 2016PLoSO..1167087W |
| P356 | DOI | 10.1371/JOURNAL.PONE.0167087 |
| P932 | PMC publication ID | 5125671 |
| P698 | PubMed publication ID | 27893852 |
| P50 | author | Leonard H van den Berg | Q56999697 |
| Oliver Harschnitz | Q57997388 | ||
| P2093 | author name string | Dennis Dooijes | |
| Kees P J Braun | |||
| W Ludo van der Pol | |||
| Marloes Stam | |||
| Renske I Wadman | |||
| Camiel A Wijngaarde | |||
| Henny H Lemmink | |||
| Peter Sodaar | |||
| Marc D Jansen | |||
| Yana van der Weegen | |||
| P2860 | cites work | SMA CARNIVAL TRIAL PART II: a prospective, single-armed trial of L-carnitine and valproic acid in ambulatory children with spinal muscular atrophy | Q21560963 |
| SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy | Q21562176 | ||
| Accurate normalization of real-time quantitative RT-PCR data by geometric averaging of multiple internal control genes | Q24534395 | ||
| SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR | Q24599124 | ||
| Survival motor neuron gene 2 silencing by DNA methylation correlates with spinal muscular atrophy disease severity and can be bypassed by histone deacetylase inhibition | Q24655533 | ||
| SMN and symmetric arginine dimethylation of RNA polymerase II C-terminal domain control termination | Q28115292 | ||
| Absolute quantification of mRNA using real-time reverse transcription polymerase chain reaction assays | Q28140044 | ||
| A novel evaluation method of survival motor neuron protein as a biomarker of spinal muscular atrophy by imaging flow cytometry. | Q54190476 | ||
| Quantification of SMN protein in leucocytes from spinal muscular atrophy patients: effects of treatment with valproic acid | Q60361416 | ||
| International SMA consortium meeting. (26-28 June 1992, Bonn, Germany) | Q67481178 | ||
| Chaos in classification of the spinal muscular atrophies of childhood | Q67911736 | ||
| 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 | Q73450673 | ||
| Very severe spinal muscular atrophy (SMA type 0): an expanding clinical phenotype | Q73505680 | ||
| SMN protein analysis in fibroblast, amniocyte and CVS cultures from spinal muscular atrophy patients and its relevance for diagnosis | Q77421666 | ||
| The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy | Q77541901 | ||
| Natural history of SMA IIIb: muscle strength decreases in a predictable sequence and magnitude | Q81824621 | ||
| In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate | Q83139606 | ||
| Childhood spinal muscular atrophy: controversies and challenges | Q38003742 | ||
| Spinal muscular atrophy: going beyond the motor neuron | Q38066335 | ||
| How genetic modifiers influence the phenotype of spinal muscular atrophy and suggest future therapeutic approaches | Q38100438 | ||
| A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy | Q38300319 | ||
| Imaging Flow Cytometry Analysis to Identify Differences of Survival Motor Neuron Protein Expression in Patients With Spinal Muscular Atrophy | Q38847492 | ||
| Detection of survival motor neuron protein in buccal cells through electrochemiluminescence-based assay | Q38890145 | ||
| A two-site ELISA can quantify upregulation of SMN protein by drugs for spinal muscular atrophy. | Q39960453 | ||
| A natural history study of late onset spinal muscular atrophy types 3b and 4. | Q40077944 | ||
| SMN mRNA and protein levels in peripheral blood: biomarkers for SMA clinical trials | Q40315627 | ||
| Valproic acid increases SMN levels in spinal muscular atrophy patient cells. | Q40620622 | ||
| Preclinical validation of a multiplex real-time assay to quantify SMN mRNA in patients with SMA | Q40882876 | ||
| Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications | Q40986555 | ||
| Astrocytes influence the severity of spinal muscular atrophy | Q40992199 | ||
| Time-dependent changes in the expression of lymphocyte and monocyte cell adhesion molecules after meals of different composition | Q42475429 | ||
| The activity of the spinal muscular atrophy protein is regulated during development and cellular differentiation. | Q42485526 | ||
| Myogenic program dysregulation is contributory to disease pathogenesis in spinal muscular atrophy | Q42739866 | ||
| Genotype-phenotype studies in infantile spinal muscular atrophy (SMA) type I in Germany: implications for clinical trials and genetic counselling | Q43271418 | ||
| SMN-dependent intrinsic defects in Schwann cells in mouse models of spinal muscular atrophy | Q43601070 | ||
| Survival in SMA type I: a prospective analysis of 34 consecutive cases | Q44609077 | ||
| Insights into genotype-phenotype correlations in spinal muscular atrophy: a retrospective study of 103 patients. | Q44844914 | ||
| The influence of storage parameters on measurement of survival motor neuron (SMN) protein levels: implications for pre-clinical studies and clinical trials for spinal muscular atrophy | Q45867040 | ||
| Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy | Q28177632 | ||
| Neuronal-specific roles of the survival motor neuron protein: evidence from survival motor neuron expression patterns in the developing human central nervous system | Q28237693 | ||
| Validation of the Expanded Hammersmith Functional Motor Scale in spinal muscular atrophy type II and III | Q28248897 | ||
| Phenylbutyrate increases SMN gene expression in spinal muscular atrophy patients | Q28291453 | ||
| Salbutamol increases survival motor neuron (SMN) transcript levels in leucocytes of spinal muscular atrophy (SMA) patients: relevance for clinical trial design | Q28293151 | ||
| Randomized, double-blind, placebo-controlled trial of hydroxyurea in spinal muscular atrophy | Q28301395 | ||
| Phase II open label study of valproic acid in spinal muscular atrophy | Q28475498 | ||
| The survival of motor neuron (SMN) protein interacts with the mRNA-binding protein HuD and regulates localization of poly(A) mRNA in primary motor neuron axons. | Q28570605 | ||
| Smn, the spinal muscular atrophy-determining gene product, modulates axon growth and localization of beta-actin mRNA in growth cones of motoneurons | Q28576647 | ||
| Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study | Q28730280 | ||
| Utility of survival motor neuron ELISA for spinal muscular atrophy clinical and preclinical analyses | Q28740896 | ||
| Identification and characterization of a spinal muscular atrophy-determining gene | Q29547495 | ||
| A single nucleotide in the SMN gene regulates splicing and is responsible for spinal muscular atrophy | Q29617367 | ||
| Spinal muscular atrophy: why do low levels of survival motor neuron protein make motor neurons sick? | Q33785933 | ||
| Treatment of spinal muscular atrophy by sodium butyrate | Q33933841 | ||
| Age-related changes in blood lymphocyte subsets of Saudi Arabian healthy children. | Q33997434 | ||
| Viability and recovery of peripheral blood mononuclear cells cryopreserved for up to 12 years in a multicenter study. | Q33997498 | ||
| Gene Expression Profiles from Peripheral Blood Mononuclear Cells Are Sensitive to Short Processing Delays | Q34199302 | ||
| VPA response in SMA is suppressed by the fatty acid translocase CD36. | Q34306857 | ||
| The survival motor neuron protein in spinal muscular atrophy | Q34435656 | ||
| Evaluation of peripheral blood mononuclear cell processing and analysis for Survival Motor Neuron protein | Q34505876 | ||
| Essential role for the SMN complex in the specificity of snRNP assembly | Q34529450 | ||
| Interaction of survival of motor neuron (SMN) and HuD proteins with mRNA cpg15 rescues motor neuron axonal deficits. | Q35064376 | ||
| Glucose metabolism and pancreatic defects in spinal muscular atrophy | Q35101838 | ||
| Treatment of spinal muscular atrophy cells with drugs that upregulate SMN expression reveals inter- and intra-patient variability. | Q35304142 | ||
| Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls | Q35808086 | ||
| SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials | Q35949008 | ||
| Survival motor neuron protein in motor neurons determines synaptic integrity in spinal muscular atrophy | Q36292754 | ||
| Results from a phase 1 study of nusinersen (ISIS-SMN(Rx)) in children with spinal muscular atrophy | Q36661721 | ||
| Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study | Q36856405 | ||
| Molecular functions of the SMN complex | Q36924730 | ||
| SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy | Q37466393 | ||
| Dysregulation of ubiquitin homeostasis and β-catenin signaling promote spinal muscular atrophy | Q37679959 | ||
| Isolation and preservation of peripheral blood mononuclear cells for analysis of islet antigen-reactive T cell responses: position statement of the T-Cell Workshop Committee of the Immunology of Diabetes Society | Q37799656 | ||
| P275 | copyright license | Creative Commons Attribution 4.0 International | Q20007257 |
| P6216 | copyright status | copyrighted | Q50423863 |
| P433 | issue | 11 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | muscular atrophy | Q2844600 |
| spinal muscular atrophy | Q580290 | ||
| P304 | page(s) | e0167087 | |
| P577 | publication date | 2016-11-28 | |
| P1433 | published in | PLOS One | Q564954 |
| P1476 | title | A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls | |
| P478 | volume | 11 |
| Q50052600 | Advances in therapy for spinal muscular atrophy: promises and challenges. |
| Q90555235 | Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment |
| Q58762112 | Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice |
| Q99585557 | Intragenic and structural variation in the SMN locus and clinical variability in spinal muscular atrophy |
| Q83227267 | Multifaceted roles of microRNAs: From motor neuron generation in embryos to degeneration in spinal muscular atrophy |
| Q42638317 | Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy. |
| Q64444098 | Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy |
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