Concepedia

Alessandra Ruggieri

AR

22

Publications

1.5K

Citations

19

H-Index

2005

Active since

Affiliations

Fondazione IRCCS Istituto Neurologico Carlo Besta(Current)

Hospital for Sick Children

University of Toronto

Istituto Giannina Gaslini

Agostino Gemelli University Polyclinic

Alessandra Ruggieri is an author at Fondazione IRCCS Istituto Neurologico Carlo Besta specializing in medicine, pathology, and cell biology.

Top concepts

MedicinePathologyCell BiologyGeneticsAutophagyAutoimmunityCell PhysiologyAutoimmune DiseaseClinical GeneticsExtracellular Matrix

Publications per year

2005–2024

22

Publications

22

Clinical, molecular, and protein correlations in a large sample of genetically diagnosed Italian limb girdle muscular dystrophy patients

Michela Guglieri, Francesca Magri, Maria Grazia D’Angelo et al. · Human Mutation · 2007 · 208 citations

Genetics, Genetic Epidemiology, Pathology +18

Congenital muscular dystrophies with defective glycosylation of dystroglycan

Eugenio Mercuri, Sonia Messina, Claudio Bruno et al. · Neurology · 2009 · 185 citations

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

N. Ramachandran, Iulia Munteanu, Peixiang Wang et al. · Acta Neuropathologica · 2013 · 138 citations

Autoimmune Disease, Autophagy, Pathology +4

Glycogen hyperphosphorylation underlies lafora body formation

Julie Turnbull, Peixiang Wang, Jean‐Marie Girard et al. · Annals of Neurology · 2010 · 115 citations

The genetic basis of undiagnosed muscular dystrophies and myopathies

Marco Savarese, Giuseppina Di Fruscio, Annalaura Torella et al. · Neurology · 2016 · 102 citations · Full text

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