AIMC Topic: Muscular Atrophy, Spinal

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Proteomics profiling and machine learning in nusinersen-treated patients with spinal muscular atrophy.

Cellular and molecular life sciences : CMLS Sep 10, 2024
AIM: The availability of disease-modifying therapies and newborn screening programs for spinal muscular atrophy (SMA) has generated an urgent need for reliable prognostic biomarkers to classify patients according to disease severity. We aim to identi...
Chromatography, Liquid Oligonucleotides Muscular Atrophy, Spinal Female Male Infant Machine Learning Proteomics Biomarkers Longitudinal Studies Retrospective Studies Child, Preschool Child Humans
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Machine learning-enhanced electrical impedance myography to diagnose and track spinal muscular atrophy progression.

Physiological measurement Sep 6, 2024
To evaluate electrical impedance myography (EIM) in conjunction with machine learning (ML) to detect infantile spinal muscular atrophy (SMA) and disease progression.. Twenty-six infants with SMA and twenty-seven healthy infants had been enrolled and ...
Humans Machine Learning Female Discriminant Analysis Electric Impedance Muscular Atrophy, Spinal Myography Male Infant Disease Progression
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An interpretable data-driven prediction model to anticipate scoliosis in spinal muscular atrophy in the era of (gene-) therapies.

Scientific reports May 23, 2024
5q-spinal muscular atrophy (SMA) is a neuromuscular disorder (NMD) that has become one of the first 5% treatable rare diseases. The efficacy of new SMA therapies is creating a dynamic SMA patient landscape, where disease progression and scoliosis dev...
Child Scoliosis Genetic Therapy Muscular Atrophy, Spinal Disease Progression Adolescent Child, Preschool Machine Learning Female Male Humans
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RNA splicing. The human splicing code reveals new insights into the genetic determinants of disease.

Science (New York, N.Y.) Dec 18, 2014
To facilitate precision medicine and whole-genome annotation, we developed a machine-learning technique that scores how strongly genetic variants affect RNA splicing, whose alteration contributes to many diseases. Analysis of more than 650,000 intron...
Adaptor Proteins, Signal Transducing DNA Genetic Markers RNA-Binding Proteins Models, Genetic Nuclear Proteins Mutation, Missense Quantitative Trait Loci RNA Splicing Child Development Disorders, Pervasive Genetic Variation Molecular Sequence Annotation Introns Humans Genome-Wide Association Study Polymorphism, Single Nucleotide Artificial Intelligence Computer Simulation Genetic Code MutL Protein Homolog 1 Colorectal Neoplasms, Hereditary Nonpolyposis RNA Splice Sites Muscular Atrophy, Spinal Exons
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From data to discovery: AI-guided analysis of disease-relevant molecules in spinal muscular atrophy (SMA).

Human molecular genetics Jul 22, 2024
Spinal Muscular Atrophy is caused by partial loss of survival of motoneuron (SMN) protein expression. The numerous interaction partners and mechanisms influenced by SMN loss result in a complex disease. Current treatments restore SMN protein levels t...
Humans Artificial Intelligence Mice Computational Biology Disease Models, Animal Machine Learning Gene Expression Regulation Algorithms Muscular Atrophy, Spinal Animals Survival of Motor Neuron 1 Protein
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Spinal Muscular Atrophy Hypotonia Detection Using Computer Vision and Artificial Intelligence.

JAMA pediatrics May 1, 2024
Muscle Hypotonia Male Infant Muscular Atrophy, Spinal Artificial Intelligence Infant, Newborn Humans
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Gait-assisted exoskeletons for children with cerebral palsy or spinal muscular atrophy: A systematic review.

NeuroRehabilitation Jan 1, 2021
BACKGROUND: Cerebral Palsy (CP) and Spinal Muscular Atrophy (SMA) are common causes of motor disability in childhood. Gait exoskeletons are currently being used as part of rehabilitation for children with walking difficulties.
Robotics Gait Cerebral Palsy Muscular Atrophy, Spinal Exoskeleton Device Motor Disorders Child, Preschool Humans Child Adolescent Persons with Disabilities
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Genetic variation and alternative splicing.

Nature biotechnology Apr 1, 2015
Humans Artificial Intelligence Genome-Wide Association Study Child Development Disorders, Pervasive Colorectal Neoplasms, Hereditary Nonpolyposis Molecular Sequence Annotation RNA Splicing Muscular Atrophy, Spinal
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RNA. Prescribing splicing.

Science (New York, N.Y.) Jan 9, 2015
Prescribing splicing
Colorectal Neoplasms, Hereditary Nonpolyposis Muscular Atrophy, Spinal Molecular Sequence Annotation RNA Splicing Child Development Disorders, Pervasive Humans Artificial Intelligence Genome-Wide Association Study
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