Results 31 to 40 of about 1,729 (232)
Navigating the Ethereal Tightrope: The Nanogenerator Manipulates Neurons for Immune Equilibrium
Advanced Science, EarlyView.This review explores how nanogenerators modulate neuroimmune responses, offering innovative strategies for treating neurological disorders. By interfacing with neural pathways, they enable precise control of immune activity, especially via vagus nerve stimulation.
Jia Du +5 more
wiley +1 more source
, 2011 Introdução: A Atrofia Muscular Espinhal (AME) é o nome dado a uma doença neuromuscular específica caracterizada pela degeneração dos neurónios motores medulares, condicionando atrofia e fraqueza muscular progressivas. É determinada pela alteração do gene
Francisco, R +4 more
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Genetic Diagnosis and Discovery Enabled by Large Language Models
Advanced Science, EarlyView.We demonstrate that large language models (LLMs) can facilitate genetic diagnosis and discovery. LLMs were used to solve four types of genetic problems of sequentially increased complexity. An LLM‐based pipeline could analyze genetic variants in the genomic sequences of human hearing loss or rare genetic disease patients and assist in identifying ...
Tao Tu +25 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona +15 more
wiley +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT To evaluate the prevalence of psychiatric signs and symptoms and describe psychotherapeutic and psychopharmacological interventions among children with osteogenesis imperfecta (OI). PRISMA guidelines were followed, and the study was registered in PROSPERO (CRD42024588284). Studies (n = 1419) were identified across five databases.
Julia M. Morales +13 more
wiley +1 more source
Phenotype Presentation and Molecular Diagnostic Yield in Non-5q Spinal Muscular Atrophy [PDF]
, 2023 BACKGROUND AND OBJECTIVES: Spinal muscular atrophy (SMA) is mainly caused by homozygous SMN1 gene deletions on 5q13. Non-5q SMA patients' series are lacking, and the diagnostic yield of next-generation sequencing (NGS) is largely unknown. The aim of this
Bedat-Millet, Anne-Laure +22 more
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Annals of Neurology, EarlyView.Objective Myotonic dystrophy type 1 (DM1) is a highly variable, multisystemic genetic disorder caused by a CTG repeat expansion in the 3′ untranslated region of DMPK. Toxicity is exerted by repeat‐containing DMPK transcripts that sequester muscleblind‐like (MBNL) proteins and lead to deleterious yet predictable changes in alternative splicing.
Samuel T. Carrell +3 more
wiley +1 more source
بروز نادر خانوادگی وردينگ هافمن [PDF]
, 2010 مقدمه : بيماری وردينگ هافمن يک بيماری دژنراتيو حرکتی است که از زمان جنينی بيمار را درگير نموده و در دوران شيرخوارگی و کودکی پيشرفت می نمايد. معمولاً مرگ تا سن 2 سالگی و به علت نارسايی تنفسی رخ می دهد.
خالصی, نسرین +2 more
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British Journal of Clinical Pharmacology, EarlyView.With multiple disease‐modifying therapies now available, treatment switching has become an important clinical consideration in the management of spinal muscular atrophy (SMA). While some switches are prompted by suboptimal clinical response, more commonly they are driven by treatment burden, convenience, or adverse events.
Andrej Belančić +4 more
wiley +1 more source
Differentiating lower motor neuron syndromes [PDF]
, 2017 Lower motor neuron (LMN) syndromes typically present with muscle wasting and weakness and may arise from pathology affecting the distal motor nerve up to the level of the anterior horn cell. A variety of hereditary causes are recognised, including spinal
Cornblath, DR +12 more
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