scholarly article | Q13442814 |
P50 | author | Helgi B. Schiöth | Q30112644 |
Galina Y. Zheleznyakova | Q55743375 | ||
Sarah Voisin | Q55743382 | ||
Anton V Kiselev | Q59684258 | ||
Miguel J Xavier | Q59709539 | ||
P2093 | author name string | Robert Fredriksson | |
Markus Sällman Almén | |||
Vladislav S Baranov | |||
Marianna A Maretina | |||
Lyudmila I Tishchenko | |||
P2860 | cites work | Bioconductor: open software development for computational biology and bioinformatics | Q21194861 |
The STRING database in 2011: functional interaction networks of proteins, globally integrated and scored | Q24607390 | ||
A positive modifier of spinal muscular atrophy in the SMN2 gene | Q24646149 | ||
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 | ||
In vitro and in cellulo evidences for association of the survival of motor neuron complex with the fragile X mental retardation protein | Q28116617 | ||
Vitamin C transport systems of mammalian cells | Q28200824 | ||
Structural determinants of Rab and Rab Escort Protein interaction: Rab family motifs define a conserved binding surface | Q28204090 | ||
The Rab6 GTPase regulates recruitment of the dynactin complex to Golgi membranes | Q28210963 | ||
Survival motor neuron protein facilitates assembly of stress granules | Q28276466 | ||
Profilin2 contributes to synaptic vesicle exocytosis, neuronal excitability, and novelty-seeking behavior | Q28592417 | ||
Identification of survival motor neuron as a transcriptional activator-binding protein. | Q33292104 | ||
Myelination and regional domain differentiation of the axon | Q33666278 | ||
Dynamic changes in the human methylome during differentiation | Q33736539 | ||
Comparison of Beta-value and M-value methods for quantifying methylation levels by microarray analysis | Q33759128 | ||
Conserved genes act as modifiers of invertebrate SMN loss of function defects | Q33760559 | ||
Genetic and expression studies of SMN2 gene in Russian patients with spinal muscular atrophy type II and III | Q33962485 | ||
Batch effect correction for genome-wide methylation data with Illumina Infinium platform | Q34101704 | ||
Genome wide analysis reveals association of a FTO gene variant with epigenetic changes | Q34123271 | ||
Multiple factors contribute to inefficient prenylation of Rab27a in Rab prenylation diseases | Q34225670 | ||
Traffic control: Rab GTPases and the regulation of interorganellar transport. | Q34272603 | ||
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy | Q34353103 | ||
Rabs grab motors: defining the connections between Rab GTPases and motor proteins | Q34495175 | ||
Possible functional role of NSPs in cancer | Q34819123 | ||
Knockdown of the survival motor neuron (Smn) protein in zebrafish causes defects in motor axon outgrowth and pathfinding. | Q35567371 | ||
Is spinal muscular atrophy the result of defects in motor neuron processes? | Q36233926 | ||
Neuronal apoptosis in neurodegeneration | Q36850374 | ||
Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy | Q37006949 | ||
Vitamin C transport and its role in the central nervous system | Q37049595 | ||
Impaired synaptic vesicle release and immaturity of neuromuscular junctions in spinal muscular atrophy mice | Q37352940 | ||
CpG islands--'a rough guide'. | Q37450048 | ||
Actin in axons: stable scaffolds and dynamic filaments | Q37543120 | ||
Rho and Ras GTPases in axon growth, guidance, and branching | Q37698277 | ||
Dynamics of the Rho-family small GTPases in actin regulation and motility | Q37823095 | ||
Implication of rho GTPases in neurodegenerative diseases | Q37874319 | ||
Double edge: CDK2AP1 in cell-cycle regulation and epigenetic regulation | Q37921992 | ||
NSP 5a3a: a potential novel cancer target in head and neck carcinoma | Q39594325 | ||
A critical smn threshold in mice dictates onset of an intermediate spinal muscular atrophy phenotype associated with a distinct neuromuscular junction pathology. | Q39688596 | ||
Valproate induces replication-independent active DNA demethylation | Q40647716 | ||
Natural history in proximal spinal muscular atrophy. Clinical analysis of 445 patients and suggestions for a modification of existing classifications | Q40986555 | ||
The neuroprotective factor Wld(s) fails to mitigate distal axonal and neuromuscular junction (NMJ) defects in mouse models of spinal muscular atrophy | Q43143539 | ||
Direct interaction of Smn with dp103, a putative RNA helicase: a role for Smn in transcription regulation? | Q44068875 | ||
Global DNA methylation level in whole blood as a biomarker in head and neck squamous cell carcinoma | Q45303840 | ||
Promoter hypermethylation in circulating blood cells identifies prostate cancer progression | Q46931948 | ||
Survival motor neuron function in motor axons is independent of functions required for small nuclear ribonucleoprotein biogenesis. | Q47073257 | ||
SMN, profilin IIa and plastin 3: a link between the deregulation of actin dynamics and SMA pathogenesis. | Q48586391 | ||
Apoptosis, proliferation and p12(doc-1) profiles in normal, dysplastic and malignant squamous epithelium of the Syrian hamster cheek pouch model. | Q52545945 | ||
Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model. | Q52598269 | ||
The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin. | Q54560146 | ||
SMN2 copy number predicts acute or chronic spinal muscular atrophy but does not account for intrafamilial variability in siblings. | Q54656854 | ||
Rab and actomyosin-dependent fission of transport vesicles at the Golgi complex. | Q55053004 | ||
Vitamin C transport systems of mammalian cells | Q55920872 | ||
Reversible molecular pathology of skeletal muscle in spinal muscular atrophy | Q57389994 | ||
Defective Neuromuscular Junction Organization and Postnatal Myogenesis in Mice With Severe Spinal Muscular Atrophy | Q58794833 | ||
International SMA consortium meeting. (26-28 June 1992, Bonn, Germany) | Q67481178 | ||
Subcellular distribution of survival motor neuron (SMN) protein: possible involvement in nucleocytoplasmic and dendritic transport | Q78163657 | ||
Unaffected patients with a homozygous absence of the SMN1 gene | Q80863125 | ||
Evaluation of the Infinium Methylation 450K technology | Q82726350 | ||
Abolishing Bax-dependent apoptosis shows beneficial effects on spinal muscular atrophy model mice | Q82968102 | ||
P4510 | describes a project that uses | limma | Q112236343 |
P433 | issue | 9 | |
P921 | main subject | spinal muscular atrophy | Q580290 |
genome-wide association study | Q1098876 | ||
muscular atrophy | Q2844600 | ||
P304 | page(s) | 988-993 | |
P577 | publication date | 2013-01-09 | |
P1433 | published in | European Journal of Human Genetics | Q2155433 |
P1476 | title | Genome-wide analysis shows association of epigenetic changes in regulators of Rab and Rho GTPases with spinal muscular atrophy severity | |
P478 | volume | 21 |
Q36456987 | Association between SMN2 methylation and disease severity in Chinese children with spinal muscular atrophy |
Q93088149 | Biomarkers and the Development of a Personalized Medicine Approach in Spinal Muscular Atrophy |
Q91784761 | Complete sequencing of the SMN2 gene in SMA patients detects SMN gene deletion junctions and variants in SMN2 that modify the SMA phenotype |
Q39127494 | Constitutional Epi/Genetic Conditions: Genetic, Epigenetic, and Environmental Factors |
Q47140062 | Genome-wide 5-hydroxymethylcytosine patterns in human spermatogenesis are associated with semen quality. |
Q35231001 | Methylation levels of SLC23A2 and NCOR2 genes correlate with spinal muscular atrophy severity. |
Q35540393 | Model systems of motor neuron diseases as a platform for studying pathogenic mechanisms and searching for therapeutic agents |
Q90674893 | Molecular Factors Involved in Spinal Muscular Atrophy Pathways as Possible Disease-modifying Candidates |