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

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Title: Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.
Authors: Pini V; 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., Catapano F; Dubowitz Neuromuscular Centre - UCL Great Ormond Street Institute of Child Health, London, UK., Bonaccorso R; Neuromuscular Repair Unit, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy., Weisburd B; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA., Previtali SC; Neuromuscular Repair Unit, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy., Muntoni F; Dubowitz Neuromuscular Centre - UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2026 Feb 03; Vol. 14 (1). Date of Electronic Publication: 2026 Feb 03.
Publication Type: Journal Article
Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE
Database: MEDLINE Ultimate
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  Data: Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.
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  Data: <searchLink fieldCode="AU" term="%22Pini+V%22">Pini V</searchLink>; 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.<br /><searchLink fieldCode="AU" term="%22Catapano+F%22">Catapano F</searchLink>; Dubowitz Neuromuscular Centre - UCL Great Ormond Street Institute of Child Health, London, UK.<br /><searchLink fieldCode="AU" term="%22Bonaccorso+R%22">Bonaccorso R</searchLink>; Neuromuscular Repair Unit, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Weisburd+B%22">Weisburd B</searchLink>; Program in Medical and Population Genetics, Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard, Cambridge, MA, USA.<br /><searchLink fieldCode="AU" term="%22Previtali+SC%22">Previtali SC</searchLink>; Neuromuscular Repair Unit, Institute of Experimental Neurology, IRCCS Ospedale San Raffaele, Milan, Italy.; Vita-Salute San Raffaele University, Milan, Italy.<br /><searchLink fieldCode="AU" term="%22Muntoni+F%22">Muntoni F</searchLink>; Dubowitz Neuromuscular Centre - UCL Great Ormond Street Institute of Child Health, London, UK.; NIHR Great Ormond Street Hospital Biomedical Research Centre, London, UK.
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  Data: <searchLink fieldCode="JN" term="%22101610673%22">Acta neuropathologica communications</searchLink> [Acta Neuropathol Commun] 2026 Feb 03; Vol. 14 (1). <i>Date of Electronic Publication: </i>2026 Feb 03.
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      – Type: doi
        Value: 10.1186/s40478-026-02227-9
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      – TitleFull: Muscle transcriptome profiling reveals novel molecular pathways and biomarkers in laminin-α2 deficient patients.
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              Text: 2026 Feb 03
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