scholarly article | Q13442814 |
P356 | DOI | 10.1016/S0929-693X(20)30269-4 |
P698 | PubMed publication ID | 33357595 |
P2093 | author name string | S Lefebvre | |
C Sarret | |||
P2860 | cites work | Unique Sm core structure of U7 snRNPs: assembly by a specialized SMN complex and the role of a new component, Lsm11, in histone RNA processing | Q24323271 |
A novel nuclear structure containing the survival of motor neurons protein | Q24324247 | ||
miRNPs: a novel class of ribonucleoproteins containing numerous microRNAs | Q24672368 | ||
Spliceosomal UsnRNP biogenesis, structure and function | Q28188106 | ||
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 | ||
New ocular movement detector system as a communication tool in ventilator-assisted Werdnig-Hoffmann disease. | Q30326111 | ||
Postsymptomatic restoration of SMN rescues the disease phenotype in a mouse model of severe spinal muscular atrophy. | Q30503157 | ||
Ribonucleoprotein assembly defects correlate with spinal muscular atrophy severity and preferentially affect a subset of spliceosomal snRNPs | Q33300324 | ||
The Survival of Motor Neuron Protein Acts as a Molecular Chaperone for mRNP Assembly | Q33858798 | ||
The survival of motor neurons protein determines the capacity for snRNP assembly: biochemical deficiency in spinal muscular atrophy | Q33862983 | ||
Animal models of spinal muscular atrophy | Q34045913 | ||
Functional characterization of SMN evolution in mouse models of SMA | Q91529446 | ||
Local translation in neurons: visualization and function | Q91595417 | ||
Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype | Q91784761 | ||
Abnormal fatty acid metabolism is a core component of spinal muscular atrophy | Q92554706 | ||
New treatments in spinal muscular atrophy: an overview of currently available data | Q92885383 | ||
AAV9-Mediated Expression of SMN Restricted to Neurons Does Not Rescue the Spinal Muscular Atrophy Phenotype in Mice | Q96017496 | ||
Missense mutation clustering in the survival motor neuron gene: a role for a conserved tyrosine and glycine rich region of the protein in RNA metabolism? | Q34425819 | ||
The survival motor neuron protein in spinal muscular atrophy | Q34435656 | ||
Safety and efficacy of olesoxime in patients with type 2 or non-ambulatory type 3 spinal muscular atrophy: a randomised, double-blind, placebo-controlled phase 2 trial. | Q34556098 | ||
Motor neuron disease. SMN2 splicing modifiers improve motor function and longevity in mice with spinal muscular atrophy | Q35221624 | ||
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Implication of the SMN complex in the biogenesis and steady state level of the signal recognition particle | Q36559321 | ||
Inactivation of the survival motor neuron gene, a candidate gene for human spinal muscular atrophy, leads to massive cell death in early mouse embryos | Q36578997 | ||
Deficiency of the Survival of Motor Neuron Protein Impairs mRNA Localization and Local Translation in the Growth Cone of Motor Neurons. | Q36740997 | ||
SMN deficiency causes tissue-specific perturbations in the repertoire of snRNAs and widespread defects in splicing | Q36746476 | ||
The loss of the snoRNP chaperone Nopp140 from Cajal bodies of patient fibroblasts correlates with the severity of spinal muscular atrophy | Q37128359 | ||
Synaptic defects in spinal muscular atrophy animal models | Q37875033 | ||
Spinal muscular atrophy: going beyond the motor neuron | Q38066335 | ||
A mouse model for spinal muscular atrophy | Q38316939 | ||
Population Pharmacokinetics of Nusinersen in the Cerebral Spinal Fluid and Plasma of Pediatric Patients With Spinal Muscular Atrophy Following Intrathecal Administrations | Q38859719 | ||
Genome-wide identification of mRNAs associated with the protein SMN whose depletion decreases their axonal localization | Q39072801 | ||
Diverse role of survival motor neuron protein | Q39092025 | ||
HuD interacts with survival motor neuron protein and can rescue spinal muscular atrophy-like neuronal defects. | Q39630245 | ||
SMN gene duplication and the emergence of the SMN2 gene occurred in distinct hominids: SMN2 is unique to Homo sapiens. | Q40805995 | ||
Correlation between severity and SMN protein level in spinal muscular atrophy | Q41102726 | ||
Therapeutic strategies for spinal muscular atrophy: SMN and beyond. | Q41440571 | ||
SMN and coilin negatively regulate dyskerin association with telomerase RNA. | Q41965772 | ||
Riluzole attenuates spinal muscular atrophy disease progression in a mouse model. | Q44594497 | ||
Intravenous scAAV9 delivery of a codon-optimized SMN1 sequence rescues SMA mice | Q45865368 | ||
Single-Dose Gene-Replacement Therapy for Spinal Muscular Atrophy | Q45873849 | ||
The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution | Q47973518 | ||
Survival motor neuron (SMN) protein in rat is expressed as different molecular forms and is developmentally regulated | Q48018838 | ||
Overview of Current Drugs and Molecules in Development for Spinal Muscular Atrophy Therapy | Q48144714 | ||
Molecular analysis of SMA patients without homozygous SMN1 deletions using a new strategy for identification of SMN1 subtle mutations | Q48170209 | ||
Constitutive muscular abnormalities in culture in spinal muscular atrophy | Q49276148 | ||
Correlation between SMA type and SMN2 copy number revisited: An analysis of 625 unrelated Spanish patients and a compilation of 2834 reported cases | Q50057089 | ||
Discovery of small molecule splicing modulators of survival motor neuron-2 (SMN2) for the treatment of Spinal Muscular Atrophy (SMA) | Q58583619 | ||
Notch Signaling Mediates Astrocyte Abnormality in Spinal Muscular Atrophy Model Systems | Q64059452 | ||
The role of survival motor neuron protein (SMN) in protein homeostasis | Q64444095 | ||
Temporal and tissue-specific variability of SMN protein levels in mouse models of spinal muscular atrophy | Q64444098 | ||
International SMA consortium meeting. (26-28 June 1992, Bonn, Germany) | Q67481178 | ||
Multifaceted roles of microRNAs: From motor neuron generation in embryos to degeneration in spinal muscular atrophy | Q83227267 | ||
Twenty-Five Years of Spinal Muscular Atrophy Research: From Phenotype to Genotype to Therapy, and What Comes Next | Q89466247 | ||
Muscle-specific SMN reduction reveals motor neuron-independent disease in spinal muscular atrophy models | Q89626912 | ||
miR-206 Reduces the Severity of Motor Neuron Degeneration in the Facial Nuclei of the Brainstem in a Mouse Model of SMA | Q89787232 | ||
Impaired kidney structure and function in spinal muscular atrophy | Q90089370 | ||
Discovery of Risdiplam, a Selective Survival of Motor Neuron-2 ( SMN2) Gene Splicing Modifier for the Treatment of Spinal Muscular Atrophy (SMA) | Q90466184 | ||
Age-dependent SMN expression in disease-relevant tissue and implications for SMA treatment | Q90555235 | ||
Longitudinal evaluation of SMN levels as biomarker for spinal muscular atrophy: results of a phase IIb double-blind study of salbutamol | Q90796235 | ||
Impairment of oligodendrocyte lineages in spinal muscular atrophy model systems | Q91368744 | ||
P433 | issue | 7S | |
P921 | main subject | spinal muscular atrophy | Q580290 |
muscular atrophy | Q2844600 | ||
P304 | page(s) | 7S3-7S8 | |
P577 | publication date | 2020-12-01 | |
P1433 | published in | Archives de Pediatrie | Q15757206 |
P1476 | title | Pathogenesis and therapeutic targets in spinal muscular atrophy (SMA) | |
P478 | volume | 27 |