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This collection of articles provides an overview of the current and future methods for applying a personalized medicine approach to the diagnosis, management, and treatment of autism spectrum disorder.

Medicine --- Neurosciences --- fecal metabolites --- ASD --- microbiome --- gastrointestinal symptoms --- Fisher Discriminant Analysis --- digital biomarkers --- wearables --- time series analysis --- autism --- social dyads --- socio-motor parameters --- network connectivity --- non-linear complex dynamics --- stochastic analysis --- autism spectrum disorders --- copy number variants --- females --- Array-Comparative Genomic Hybridization (Array-CGH) --- autism spectrum disorder --- Ehlers-Danlos syndrome --- hypermobility spectrum disorders --- autonomic disorder --- mast cell activation syndrome --- genetic testing --- chromosomal microarray analysis --- whole exome sequencing --- whole genome sequencing --- clinical utility --- polygenic risk scores --- Temple Grandin --- biomarker --- omics --- precision medicine --- proteomics --- transcriptomics --- epigenetics --- metabolomics --- patient stratification --- mitochondria --- oxidative stress --- prenatal environment --- immune dysfunction --- immunoglobulin G --- intravenous immunoglobulin --- energy metabolism --- fatty acid oxidation --- acyl-carnitines --- resveratrol --- integrative --- model --- concomitant --- condition --- disorder --- autism spectrum disorder (ASD) --- genomics --- personalized treatment strategy --- single nucleotide polymorphisms --- clinical decision support tool --- ADHD --- PANDAS --- OCD --- anxiety --- folate receptor alpha --- folates --- pregnancy --- brain development --- fetal development --- cobalamin --- glutathione --- methylation --- methylcobalamin --- redox metabolism --- locked-in network syndrome --- resting-state functional magnetic resonance imaging --- temporal lobe epilepsy --- amygdala --- brain --- COVID-19 --- children --- cytokines --- flavonoids --- inflammation --- luteolin --- mast cells --- microglia --- SARS-CoV-2 --- stress --- nutraceuticals --- survey --- vitamins --- minerals --- B12 --- folinic acid --- quality of life --- parents --- intervention --- systematic review --- medical claims --- logistic regression analysis --- retrospective analysis --- associated risk --- monoamine neurotransmitters --- neurotransmitter deficiency --- cerebral folate deficiency --- folate receptor alpha autoantibodies --- leucovorin --- α-amylase --- cortisol --- heart rate variability --- neuromodulation --- sleep anxiety --- transdermal electrical neuromodulation --- neurostimulation --- fecal metabolites --- ASD --- microbiome --- gastrointestinal symptoms --- Fisher Discriminant Analysis --- digital biomarkers --- wearables --- time series analysis --- autism --- social dyads --- socio-motor parameters --- network connectivity --- non-linear complex dynamics --- stochastic analysis --- autism spectrum disorders --- copy number variants --- females --- Array-Comparative Genomic Hybridization (Array-CGH) --- autism spectrum disorder --- Ehlers-Danlos syndrome --- hypermobility spectrum disorders --- autonomic disorder --- mast cell activation syndrome --- genetic testing --- chromosomal microarray analysis --- whole exome sequencing --- whole genome sequencing --- clinical utility --- polygenic risk scores --- Temple Grandin --- biomarker --- omics --- precision medicine --- proteomics --- transcriptomics --- epigenetics --- metabolomics --- patient stratification --- mitochondria --- oxidative stress --- prenatal environment --- immune dysfunction --- immunoglobulin G --- intravenous immunoglobulin --- energy metabolism --- fatty acid oxidation --- acyl-carnitines --- resveratrol --- integrative --- model --- concomitant --- condition --- disorder --- autism spectrum disorder (ASD) --- genomics --- personalized treatment strategy --- single nucleotide polymorphisms --- clinical decision support tool --- ADHD --- PANDAS --- OCD --- anxiety --- folate receptor alpha --- folates --- pregnancy --- brain development --- fetal development --- cobalamin --- glutathione --- methylation --- methylcobalamin --- redox metabolism --- locked-in network syndrome --- resting-state functional magnetic resonance imaging --- temporal lobe epilepsy --- amygdala --- brain --- COVID-19 --- children --- cytokines --- flavonoids --- inflammation --- luteolin --- mast cells --- microglia --- SARS-CoV-2 --- stress --- nutraceuticals --- survey --- vitamins --- minerals --- B12 --- folinic acid --- quality of life --- parents --- intervention --- systematic review --- medical claims --- logistic regression analysis --- retrospective analysis --- associated risk --- monoamine neurotransmitters --- neurotransmitter deficiency --- cerebral folate deficiency --- folate receptor alpha autoantibodies --- leucovorin --- α-amylase --- cortisol --- heart rate variability --- neuromodulation --- sleep anxiety --- transdermal electrical neuromodulation --- neurostimulation

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This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.

Research & information: general --- LMNA --- Emery–Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype–phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions --- n/a --- Emery-Dreifuss muscular dystrophy --- genotype-phenotype

Choose an application

• Reference Manager
• EndNote
• RefWorks (Direct export to RefWorks)

This compilation focuses on recent advances in the molecular and cellular understandingof neuromuscular biology, and the treatment of neuromuscular disease.These advances are at the forefront of modern molecular methodologies, oftenintegrating across wet-lab cell and tissue models, dry-lab computational approaches,and clinical studies. The continuing development and application ofmultiomics methods offer particular challenges and opportunities in the field,not least in the potential for personalized medicine.

LMNA --- Emery–Dreifuss muscular dystrophy --- Omics --- ALS --- MND --- ALS variants --- genotype–phenotype --- ALS genes --- FSHD --- DUX4 --- transcription --- muscle --- regulation --- spinal muscular atrophy --- adult patients --- disease heterogeneity --- Nusinersen --- disease modifiers --- functional outcomes --- biomarkers --- epigenetic changes --- -omics approaches --- oxidative stress --- mitochondria dysfunction --- axonal transport --- autophagy --- endocytosis --- secretion --- excitotoxicity --- RNA metabolism --- Duchenne muscular dystrophy (DMD) --- exon-skipping therapies --- next-generation sequencing (NGS) --- Sanger sequencing --- multiplex ligation probe amplification (MLPA) --- multiplex polymerase chain reaction (PCR) --- comparative genomic hybridization array (CGH) --- viltolarsen --- eteplirsen --- golodirsen --- rheumatoid arthritis --- SNP --- DMARD --- methotrexate --- pharmacogenomics --- Duchenne muscular dystrophy --- pharmacodynamic biomarkers --- prednisone --- deflazacort --- glucocorticoids --- corticosteroids --- safety --- neuromuscular diseases --- translational research --- disease models --- precision medicine --- miRNA --- proteomics --- calprotectin --- dystrophy --- Becker muscular dystrophy --- dystrophinopathy --- genotype-phenotype correlations --- Canadian Neuromuscular Disease Registry --- reading frame rule --- dystrophin --- multiple logistic regression analysis --- exon skipping therapy --- Amyotrophic Lateral Sclerosis --- machine learning --- genome-wide association studies --- GWAS --- genomics --- ALS pathology --- gene prioritization --- AAV --- genetic neuromuscular disorders --- gene therapy --- clinical trials --- toxicity --- SMA --- DMD --- XLMTM --- facioscapulohumeral dystrophy --- TALEN --- CRISPR-Cas9 --- gene editing --- polyadenylation --- D4Z4 --- duchenne muscular dystrophy (DMD) --- becker muscular dystrophy (BMD) --- exon skipping --- skip-equivalent deletions --- n/a --- Emery-Dreifuss muscular dystrophy --- genotype-phenotype