首页> Acta neuropathologica communications> Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.

Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.

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第一作者： Veronica,Pini

第一单位： Dubowitz Neuromuscular Centre - UCL Great Ormond Street Institute of Child Health, London, UK. v.pini@ucl.ac.uk.;Neuromuscular Repair Unit, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy. v.pini@ucl.ac.uk.

作者： Veronica,Pini ^[1] ; Francesco,Catapano ^[2] ; Rosa,Bonaccorso ^[3] ; Ben,Weisburd ^[4] ; Stefano C,Previtali ^[5] ; Francesco,Muntoni ^[6]

作者单位： Dubowitz Neuromuscular Centre - UCL Great Ormond Street Institute of Child Health, London, UK. v.pini@ucl.ac.uk.;Neuromuscular Repair Unit, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy. v.pini@ucl.ac.uk. ^[1] Dubowitz Neuromuscular Centre - UCL Great Ormond Street Institute of Child Health, London, UK. ^[2] Neuromuscular Repair Unit, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy. ^[3] Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA. ^[4] Neuromuscular Repair Unit, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.;Vita-Salute San Raffaele University, Milan, Italy. ^[5] Dubowitz Neuromuscular Centre - UCL Great Ormond Street Institute of Child Health, London, UK.;NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK. ^[6]

关键词 Dystrophy Laminin-211 Skeletal muscle pathology Transcriptomic

DOI 10.1186/s40478-026-02227-9

PMID 41630090

发布时间 2026-02-03

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Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.

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Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.

Acta neuropathologica communications

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Acta neuropathologica communications

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