Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study - Wikidata - thesis-toulmin - TriplyDB

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

http://www.wikidata.org/entity/Q28730280

about

Copy Number Variations in the Survival Motor Neuron Genes: Implications for Spinal Muscular Atrophy and Other Neurodegenerative Diseases Spinal muscular atrophy: from gene discovery to clinical trials Spinal muscular atrophy: development and implementation of potential treatments Splicing therapy for neuromuscular disease Candidate proteins, metabolites and transcripts in the Biomarkers for Spinal Muscular Atrophy (BforSMA) clinical study Assays for the identification and prioritization of drug candidates for spinal muscular atrophy Evaluation of peripheral blood mononuclear cell processing and analysis for Survival Motor Neuron protein.SMA-MAP: a plasma protein panel for spinal muscular atrophy Molecular characterization and copy number of SMN1, SMN2 and NAIP in Chinese patients with spinal muscular atrophy and unrelated healthy controls.Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.The Genetics of Spinal Muscular Atrophy: Progress and Challenges.Biomarker for Spinal Muscular Atrophy: Expression of SMN in Peripheral Blood of SMA Patients and Healthy Controls SMN1 and SMN2 copy numbers in cell lines derived from patients with spinal muscular atrophy as measured by array digital PCR SMN Protein Can Be Reliably Measured in Whole Blood with an Electrochemiluminescence (ECL) Immunoassay: Implications for Clinical Trials A Comparative Study of SMN Protein and mRNA in Blood and Fibroblasts in Patients with Spinal Muscular Atrophy and Healthy Controls Decay in survival motor neuron and plastin 3 levels during differentiation of iPSC-derived human motor neurons.Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy.Recent developments in the treatment of Duchenne muscular dystrophy and spinal muscular atrophy.Clinical and molecular cross-sectional study of a cohort of adult type III spinal muscular atrophy patients: clues from a biomarker study Spinal muscular atrophy: an update on therapeutic progress SMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophy Developing therapies for spinal muscular atrophy.Label-free proteomics identifies Calreticulin and GRP75/Mortalin as peripherally accessible protein biomarkers for spinal muscular atrophy.Longitudinal characterization of biomarkers for spinal muscular atrophy.Discovery of a Small Molecule Probe That Post-Translationally Stabilizes the Survival Motor Neuron Protein for the Treatment of Spinal Muscular Atrophy.Establishing a reference dataset for the authentication of spinal muscular atrophy cell lines using STR profiling and digital PCR.Transcript, methylation and molecular docking analyses of the effects of HDAC inhibitors, SAHA and Dacinostat, on SMN2 expression in fibroblasts of SMA patients.Translational development of splice-modifying antisense oligomers.Spectrum of neuropathophysiology in spinal muscular atrophy type I Deregulation of ZPR1 causes respiratory failure in spinal muscular atrophy.Survival Motor Neuron Protein is Released from Cells in Exosomes: A Potential Biomarker for Spinal Muscular Atrophy.Effects of Arm Cycling Exercise in Spinal Muscular Atrophy Type II Patients: A Pilot Study.[Spinal muscular atrophy : Time for newborn screening?]Nusinersen for the treatment of spinal muscular atrophy.Solving the puzzle of spinal muscular atrophy: what are the missing pieces?Targeting RNA structure in SMN2 reverses spinal muscular atrophy molecular phenotypes.Evaluation of potential effects of Plastin 3 overexpression and low-dose SMN-antisense oligonucleotides on putative biomarkers in spinal muscular atrophy mice A new biomarker candidate for spinal muscular atrophy: Identification of a peripheral blood cell population capable of monitoring the level of survival motor neuron protein

P2860

Q26750803-6F3FAC43-F338-4926-AB5C-5683E7D57979 Q26824894-CDBB1ED0-E7D5-4A2D-8A78-54C702EA5E84 Q26861377-17B27159-3F25-4682-AD8F-9956ABB150A5 Q27009581-C8F74ACD-4A4C-4D75-9BA7-F2778CF71795 Q28730283-B093B7AF-52FE-4994-B3E0-E8252D89B9A0 Q34082155-6811C7FD-60BE-4A31-AA90-F1B52EFD9188 Q34505876-93F67BD2-E15A-4FE7-B962-A681F70D61B8 Q34658131-ECC7BCDD-EE6D-4E15-8422-178C07D19D80 Q35083867-B89A48C1-D894-47B6-BE01-7975B0E862D3 Q35221624-881A8DAA-6BAD-4D7B-A049-3B5273A792B2 Q35501975-F22C2340-7907-4965-8B72-FF4875203992 Q35808086-5E95A2BE-752B-4E19-A51A-FB26FE5E68E2 Q35907736-C51DCAD1-3AB9-470B-BB13-01C204FD01CA Q35949008-ED22D4F8-8921-4269-9F36-00430BB9C910 Q36205773-BAA964D5-41B1-4ABB-A076-EE52E79E6E7C Q36293324-55BA23C1-D457-44EF-A736-805BBA8A04BD Q36456987-1F210378-151A-42F9-94F7-78137E29EE6E Q36761839-C5E7787B-D519-4B22-A012-585EB90BD1D0 Q36856405-97C16E66-6D64-446D-9D30-94702646E568 Q37302832-258C41EB-B06D-4CDE-BD3D-D1F9C2A8C37A Q37466393-86087B3B-11F5-406C-927F-0EA231B27102 Q38546908-0849D8A6-F717-4DAD-9428-5112C2555ACC Q38651628-6E1AA3AB-7BAE-43AC-A238-CE20BFD12961 Q38685408-EA8EA7DB-0257-491D-8989-EFBE055EC92C Q38704353-1A41069B-7EBF-4368-AD21-49576C2876CE Q38712609-B126D252-DD02-4E14-ABA0-F88AE9F67FB9 Q38767134-7BF660D2-B557-453D-9FF8-09E0D0509315 Q38996657-A6F9B0F8-F1C0-47B2-8369-6E75364FA4E9 Q39084725-1EDE3A1D-87F5-4DA9-93C5-2FED0D1E2B1D Q41421560-90AC0669-E58D-4858-BE36-B1AD6F3B08B3 Q42638317-935443DD-92D8-4BA6-826E-EDB2769296F0 Q48254883-A9FA085C-698B-4058-B2F7-1FBA003FC9FA Q50172108-95FD4A13-23B9-4990-97E4-13A5DC4DC163 Q50200829-EDA9E7BA-EC49-43A8-B294-F61B90D8B4BE Q54765007-0F8C084C-6F6B-4858-8A6E-13170E5C9E7C Q55061836-2FC553CE-F410-4FB8-9F94-241E481927CB Q58762112-60DC8622-2716-41DD-B991-C6B20C44D9F8 Q58787242-ECF0C496-F688-4DA8-823C-CC0EB762AA02

P2860

Evaluation of SMN protein, transcript, and copy number in the biomarkers for spinal muscular atrophy (BforSMA) clinical study

http://www.wikidata.org/entity/Q28730280

description

2012 թուականին հրատարակուած գիտական յօդուած

@hyw

2012 թվականին հրատարակված գիտական հոդված

@hy

article publié dans la revue scientifique PLoS ONE

@fr

artículu científicu espublizáu en 2012

@ast

im Januar 2012 veröffentlichter wissenschaftlicher Artikel

@de

scientific article (publication date: 2012)

@en

vedecký článok (publikovaný 2012)

@sk

vědecký článek publikovaný v roce 2012

@cs

wetenschappelijk artikel (gepubliceerd in 2012)

@nl

наукова стаття, опублікована у 2012

@uk

name

Evaluation of SMN protein, tra ...... rophy (BforSMA) clinical study

@ast

Evaluation of SMN protein, tra ...... rophy (BforSMA) clinical study

@en

Evaluation of SMN protein, tra ...... rophy (BforSMA) clinical study

@nl

type

label

Evaluation of SMN protein, tra ...... rophy (BforSMA) clinical study

@ast

Evaluation of SMN protein, tra ...... rophy (BforSMA) clinical study

@en

Evaluation of SMN protein, tra ...... rophy (BforSMA) clinical study

@nl

prefLabel

Evaluation of SMN protein, tra ...... rophy (BforSMA) clinical study

@ast

Evaluation of SMN protein, tra ...... rophy (BforSMA) clinical study

@en

Evaluation of SMN protein, tra ...... rophy (BforSMA) clinical study

@nl

P1433

Q28730280-91C8EA9B-802D-42E8-86BC-776FFA439DB6

P1476

Q28730280-CFFBFB4A-AC7A-4437-A036-DD6488F0CC58

P2093

Q28730280-28F642FD-F903-4485-AB07-AA28C04CC199

Q28730280-35AEF951-F027-46D9-936B-41B455664947

Q28730280-551E6D09-E326-43F2-BA6D-3CD7BAE7707D

Q28730280-718FBD7B-8C8B-4966-9770-18C606B6E55B

Q28730280-871C9D36-1E6E-411F-85B6-CCD5364F8D02

Q28730280-9CE67B28-101F-45BE-967A-8818FFCD9336

Q28730280-B2AD9244-5B4E-482D-9BB3-96E8BDD8D68E

Q28730280-B49789E1-2BA1-493A-B266-17DFF008FF24

Q28730280-BA4C2374-51E2-419A-800E-83ADA13038B2

Q28730280-C3B2637F-BEDF-47E0-AF15-ACBB9B5A8483

P2860

Q28730280-00F62F6D-043A-4CD8-A3E9-0A1BDC5359C4

Q28730280-031C0622-21B2-4F76-9E62-0D5F630093D1

Q28730280-0987C13D-41CA-4D91-97C5-54D8692A8A72

Q28730280-0A74FF27-71C2-4579-9A43-9F386DD3BC51

Q28730280-10EA3C19-A353-4D28-B091-553C484EBF36

Q28730280-12606917-1A38-4CFD-A3A5-DEC0401A065E

Q28730280-12EC1BA9-F18E-4E4D-9ABE-6E6EFB0605B5

Q28730280-139C7C79-5A23-45F8-8ECE-0961E3CB9CCB

Q28730280-1F259422-F809-4A13-A8F5-417D61373D20

Q28730280-25392D17-D886-4364-8B5B-D49FF5A8B641

P304

Q28730280-82288300-35DF-428B-AB3F-1236C9A20219

P31

Q28730280-B8AC7CE8-536E-48B9-971A-7CD90CBAF367

P356

Q28730280-87983B51-DC3A-44EF-8FF3-9527C07F706B

P407

Q28730280-6B1BCD55-90D8-4580-8DA7-069BD121C225

P433

Q28730280-D50BEC77-B238-452B-899C-877E1FFF4F4D

P478

Q28730280-70423606-9E48-4ADD-AB84-396671586B09

P50

Q28730280-6ACC412C-DEFA-4CD4-BA9B-9A1DCF2C3B6C

P577

Q28730280-65CDB06B-76D4-458D-AC7A-AC0114353E08

P5875

Q28730280-85092638-EEC2-4003-AFD2-4FDABA086B2B

P698

Q28730280-D4A921FC-DA66-4865-8EE6-D2FFF0CF304B

P921

Q28730280-1167A2A0-E491-44DD-B31A-6E28987D1CCB

Q28730280-C319F076-9D9D-433D-B154-FADA754444EC

P932

Q28730280-BC476297-BDDC-4F38-A7EE-520BCE5C5D21

P356

JOURNAL.PONE.0033572

P1433

P1476

Evaluation of SMN protein, tra ...... rophy (BforSMA) clinical study

@en

P2093

Cynthia L Joyce

http://www.w3.org/2001/XMLSchema#string

Danilo Tiziano

http://www.w3.org/2001/XMLSchema#string

Dione T Kobayashi

http://www.w3.org/2001/XMLSchema#string

Felicia L Trachtenberg

http://www.w3.org/2001/XMLSchema#string

Karen S Chen

http://www.w3.org/2001/XMLSchema#string

Petra Kaufmann

http://www.w3.org/2001/XMLSchema#string

Rebecca H Li

http://www.w3.org/2001/XMLSchema#string

Richard S Finkel

http://www.w3.org/2001/XMLSchema#string

Rosa Lomastro

http://www.w3.org/2001/XMLSchema#string

Sergey V Paushkin

http://www.w3.org/2001/XMLSchema#string

P2860

SMA CARNI-VAL trial part I: double-blind, randomized, placebo-controlled trial of L-carnitine and valproic acid in spinal muscular atrophy

Modeling spinal muscular atrophy in Drosophila

The splicing regulator Sam68 binds to a novel exonic splicing silencer and functions in SMN2 alternative splicing in spinal muscular atrophy

SMN transcript levels in leukocytes of SMA patients determined by absolute real-time PCR

A positive modifier of spinal muscular atrophy in the SMN2 gene

The RNA binding protein hnRNP Q modulates the utilization of exon 7 in the survival motor neuron 2 (SMN2) gene

Differential 3' splice site recognition of SMN1 and SMN2 transcripts by U2AF and U2 snRNP

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

A modified Hammersmith functional motor scale for use in multi-center research on spinal muscular atrophy

A short antisense oligonucleotide masking a unique intronic motif prevents skipping of a critical exon in spinal muscular atrophy

P304

e33572

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1371/JOURNAL.PONE.0033572

http://www.w3.org/2001/XMLSchema#string

P407

P433

4

http://www.w3.org/2001/XMLSchema#string

P478

7

http://www.w3.org/2001/XMLSchema#string

P50

Kathryn J Swoboda

P577

2012-01-01T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P5875

224899303

http://www.w3.org/2001/XMLSchema#string

P698

22558076

http://www.w3.org/2001/XMLSchema#string

P921

spinal muscular atrophy

P932

3338744

http://www.w3.org/2001/XMLSchema#string