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Marianela Schiava

Decoding the transcriptome of Duchenne muscular dystrophy to the single nuclei level reveals clinical-genetic correlations
2023 · Xavier Suárez-Calvet, Esther Fernández-Simón, et al. · Cell Death and Disease · 44
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Genotype–phenotype correlations in valosin-containing protein disease: a retrospective muticentre study
2022 · Marianela Schiava, Chiseko Ikenaga, et al. · Journal of Neurology Neurosurgery & Psychiatry · 41
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Cardiac care of children with dystrophinopathy and females carrying DMD-gene variations
2022 · John Bourke, Cathy Turner, et al. · Open Heart · 29
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Development of respiratory care guidelines for Duchenne muscular dystrophy in the UK: key recommendations for clinical practice
2023 · Anne-Marie Childs, Catherine Turner, et al. · Thorax · 27
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Single cell RNA sequencing of human FAPs reveals different functional stages in Duchenne muscular dystrophy
2024 · Esther Fernández-Simón, Patricia Piñol-Jurado, et al. · Frontiers in Cell and Developmental Biology · 17
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Functional abilities, respiratory and cardiac function in a large cohort of adults with Duchenne muscular dystrophy treated with glucocorticoids
2024 · Marianela Schiava, Robert Muni Lofra, et al. · European Journal of Neurology · 17
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Analysis of muscle magnetic resonance imaging of a large cohort of patient with VCP-mediated disease reveals characteristic features useful for diagnosis
2023 · Diana Esteller, Marianela Schiava, et al. · Journal of Neurology · 13
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Myostatin and follistatin as monitoring and prognostic biomarkers in dysferlinopathy
2023 · Ursula Moore, Esther Fernández-Simón, et al. · Neuromuscular Disorders · 13
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Longitudinal Analysis of Respiratory Function of Different Types of Limb Girdle Muscular Dystrophies Reveals Independent Trajectories
2023 · Robert Muni-Lofra, Eduard Juanola-Mayos, et al. · Neurology Genetics · 10
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Description of clinical and genetic features of 122 patients included in the Spanish Pompe registry
2023 · Rafael Jenaro Martinez-Marin, David Reyes-Leiva, et al. · Neuromuscular Disorders · 9
Clinical Classification of Variants in the Valosin-Containing Protein Gene Associated With Multisystem Proteinopathy
2023 · Marianela Schiava, Chiseko Ikenaga, et al. · Neurology Genetics · 9
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Characterisation of a large, single-centre cohort of patients with Becker muscular dystrophy to inform standardised care guidelines
2025 · Pietro Riguzzi, Holly Borland, et al. · Journal of Neurology · 7
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Elevated VCP ATPase Activity Correlates With Disease Onset in Multisystem Proteinopathy-1
2024 · Sarah E. Robinson, Andrew R. Findlay, et al. · Neurology Genetics · 7
Factors Associated With Early Motor Function Trajectories in DMD After Glucocorticoid Initiation
2024 · Marianela Schiava, Michael P. McDermott, et al. · Neurology · 7
Reductions in functional muscle mass and ability to ambulate in Duchenne muscular dystrophy from ages 4 to 24 years
2024 · William J. Evans, Marc Hellerstein, et al. · The Journal of Physiology · 6
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Disease-associated comorbidities, medication records and anthropometric measures in adults with Duchenne muscular dystrophy
2024 · Marianela Schiava, Robert Muni Lofra, et al. · Neuromuscular Disorders · 6
Reference curves of motor function outcomes in young steroid‐naïve males with Duchenne muscular dystrophy
2023 · Jasmine Hoskens, Marianela Schiava, et al. · Developmental Medicine & Child Neurology · 6
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Levels of exercise exposure among people living with neuromuscular disorders: lessons learned from real-world data
2025 · Mark Richardson, Virginie Kinet, et al. · Neuromuscular Disorders · 4
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Height, weight, and body mass index trajectories and their correlation with functional outcome assessments in boys with Duchenne muscular dystrophy
2025 · Marianela Schiava, Utkarsh J. Dang, et al. · Developmental Medicine & Child Neurology · 3
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Association between age at loss of ambulation and cardiac function in adults with Duchenne muscular dystrophy
2025 · Marianela Schiava, John P Bourke, et al. · Neuromuscular Disorders · 3
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Vamorolone for Duchenne Muscular Dystrophy
2026 · Paula R. Clemens, Anders Berglund, et al. · Neurology · 2
Muscle Biopsy Findings in Valosin-Containing Protein Multisystem Proteinopathy
2025 · Marianela Schiava, Yolande Parkhurst, et al. · Neurology Genetics · 2
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Estudio epidemiológico multicéntrico sobre esclerosis lateral amiotrófica en la Ciudad de Buenos Aires
2017 · Manuel Pérez Akly, Marianela Schiava, et al. · Neurología Argentina · 2
Neurobehavioral Profiles in Young Steroid-Naive Boys With Duchenne Muscular Dystrophy
2026 · Giulio Gadaleta, Chloe Geagan, et al. · Neurology · 1
1.30eP Longitudinal comparison of creatinine- and cystatin C–based eGFR in LGMDR2
2026 · Marianela Schiava, Heather Gordish Dressman, et al. · Neuromuscular Disorders
Works count: 36
Citation count: 285
H-index: 10
I10-index: 10
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