about
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomal-dominant inheritanceSpinal muscular atrophy: from gene discovery to clinical trialsSpinal muscular atrophy: development and implementation of potential treatmentsApplicability of histone deacetylase inhibition for the treatment of spinal muscular atrophyHigh expression level of Tra2-β1 is responsible for increased SMN2 exon 7 inclusion in the testis of SMA miceSpinal Muscular AtrophyTargeting the sarcomere to correct muscle functionReaders of histone methylarginine marks.Rasch analysis of clinical outcome measures in spinal muscular atrophy.Comparing pandemic to seasonal influenza mortality: moderate impact overall but high mortality in young children.Established Stem Cell Model of Spinal Muscular Atrophy Is Applicable in the Evaluation of the Efficacy of Thyrotropin-Releasing Hormone Analog.Spinal Muscular Atrophy: From Defective Chaperoning of snRNP Assembly to Neuromuscular Dysfunction.Systemic gene delivery in large species for targeting spinal cord, brain, and peripheral tissues for pediatric disordersNew therapeutic approaches to spinal muscular atrophy.SMN2 splice modulators enhance U1-pre-mRNA association and rescue SMA mice.Antisense therapy in neurologyImprovement of neuromuscular synaptic phenotypes without enhanced survival and motor function in severe spinal muscular atrophy mice selectively rescued in motor neuronsHighly efficient retrograde gene transfer into motor neurons by a lentiviral vector pseudotyped with fusion glycoprotein.Spinal muscular atrophy: from tissue specificity to therapeutic strategiesThe Gemin associates of survival motor neuron are required for motor function in Drosophila.Newborn screening for spinal muscular atrophy by calibrated short-amplicon melt profiling.Molecular biology. A splicing magic bullet.Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy.Reliability and validity of the TIMPSI for infants with spinal muscular atrophy type IA novel lamin A/C gene mutation causing spinal muscular atrophy phenotype with cardiac involvement: report of one caseSpinal muscular atrophy: the role of SMN in axonal mRNA regulation.Reconstitution of the human U snRNP assembly machinery reveals stepwise Sm protein organizationMutant superoxide dismutase 1 (SOD1), a cause of amyotrophic lateral sclerosis, disrupts the recruitment of SMN, the spinal muscular atrophy protein to nuclear Cajal bodies.Mechanistic principles of antisense targets for the treatment of spinal muscular atrophyThe neuromuscular impact of symptomatic SMN restoration in a mouse model of spinal muscular atrophy.Synthesis of a norcantharidin-tethered guanosine: Protein phosphatase-1 inhibitors that change alternative splicing.Baseline results of the NeuroNEXT spinal muscular atrophy infant biomarker study.RNA-binding proteins in neurodegenerative disease: TDP-43 and beyond.Efficacy and biodistribution analysis of intracerebroventricular administration of an optimized scAAV9-SMN1 vector in a mouse model of spinal muscular atrophy.Antisense oligonucleotide mediated therapy of spinal muscular atrophySMA valiant trial: a prospective, double-blind, placebo-controlled trial of valproic acid in ambulatory adults with spinal muscular atrophySpinal Muscular Atrophy Biomarker Measurements from Blood Samples in a Clinical Trial of Valproic Acid in Ambulatory Adults.Plastin-3 extends survival and reduces severity in mouse models of spinal muscular atrophy.Modeling the phenotype of spinal muscular atrophy by the direct conversion of human fibroblasts to motor neuronsCardiac pathology in spinal muscular atrophy: a systematic review.
P2860
Q24339600-5A55C80D-8894-4621-A705-C9163B26E27BQ26824894-EB6A5986-87E7-4876-9C36-AF3160E0E465Q26861377-6F185E5A-E9DC-4566-979F-D05F29BC80CFQ26864605-3811BD90-875B-4E40-BB69-7D82520DE957Q27311317-7A6673FE-6AC5-4805-86F1-771A07F80381Q28080774-5ECD6208-34CE-405A-A76B-5DA6ED3FA3B9Q28260629-D029DF28-81FD-474D-B657-663915E600E5Q30359633-00F1D1D6-71F1-467F-B819-3F3E998BAE1BQ30407124-6D61959C-536C-4213-A2B7-E76A6DBBE22DQ30412819-F176AAD4-8468-4FC9-A0EC-FD7FCE15E027Q30702451-11D4630F-E422-4160-8E1D-69B238E43D16Q33775770-A5C21726-FA5A-4497-91B7-ABE92DF578F1Q34205620-75F8DE2B-A08D-4BAD-ACC3-9E91B68F9889Q34237525-5FC33A91-254B-4F60-93C8-F8EE5D344A65Q34478749-12BDA5E4-686D-4FB5-8F99-0ABF496A43D0Q34608717-37800D7F-3CBB-4111-8912-67AB45F72128Q35006040-7C59B4FA-551D-4E5A-A6EB-F65BDA4510E9Q35006070-25B14F96-D1BA-449D-8240-CFCD9F4C3ABDQ35029616-3A55593F-B4E0-4CBF-993C-FD322150DB60Q35082654-3B2A4496-7FE7-4FD8-B23C-D875A8CF3320Q35101814-26D37264-B8C0-4CA2-A23E-D39EFB0CE95AQ35221620-1E904C64-80E2-4F77-8B2C-05BF2FA8BDDBQ35221624-8B1A88BF-9F76-402F-8D80-2BD5DBEEC68BQ35238315-A7A09FC3-C191-4509-8C7B-E11C4F2D0674Q35606734-32B79D36-91B3-415F-ADFF-7220F8F126EEQ35990221-297EBC10-35F7-4ACD-9446-E3AC374CC076Q35991646-D56679F5-C71A-4678-A4AF-E786565C053CQ36083144-3552B5E2-E60D-4ACB-B13B-62A4C9FFA090Q36322222-06152C3E-0004-4CF7-ABCC-E7D61AB54F72Q36494820-86247291-5E37-4D8E-8520-51818877B452Q36505574-7D12204F-A79F-46A1-90D3-4655270C6F20Q36565221-85B9B389-D994-41C8-B75A-83087D58AC36Q37155206-801A570C-DDDF-4256-B79C-B834CF8795FAQ37255468-6FA49745-0B70-40E6-A9C5-99F2379D80F4Q37320544-B2066988-8ADA-4528-A28A-CF667E745596Q37466393-084ED52F-5764-4298-AFEA-1DACE9F4F2B5Q37610527-26C4E4B2-A7D2-4ECC-BE2C-00D5C37EBE9FQ37677406-638E76A3-809D-48FA-A8CC-7C193F8B0526Q37706859-486C28E7-A3CA-45C9-AFA2-365E1A0A74DBQ37748085-C21B21E9-4551-4DB1-87B8-7FE24090AAF0
P2860
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 11 April 2011
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
Spinal muscular atrophy: a timely review.
@en
Spinal muscular atrophy: a timely review.
@nl
type
label
Spinal muscular atrophy: a timely review.
@en
Spinal muscular atrophy: a timely review.
@nl
prefLabel
Spinal muscular atrophy: a timely review.
@en
Spinal muscular atrophy: a timely review.
@nl
P2860
P1433
P1476
Spinal muscular atrophy: a timely review.
@en
P2093
John T Kissel
Stephen J Kolb
P2860
P304
P356
10.1001/ARCHNEUROL.2011.74
P577
2011-04-11T00:00:00Z