Author

Alessandra Ruggieri

Observed names: A. Ruggieri, A.R. Ruggieri, Ruggieri, Alessandra

Institution: Fondazione IRCCS Istituto Neurologico Carlo Besta

Observed institutions: University of Verona, University of Toronto, University of Campania "Luigi Vanvitelli", Kyoto University, Australian Regenerative Medicine Institute, Hospital for Sick Children, Agostino Gemelli University Polyclinic, National Center of Neurology and Psychiatry, Kyoto University Hospital, Telethon Institute Of Genetics And Medicine, Fondazione IRCCS Istituto Neurologico Carlo Besta, Centre for Applied Genomics, University of Turin, Monash University, University of Brescia

ORCID: 0000-0002-2777-6226

Observed ORCID: 0000-0002-2777-6226

OpenAlex ID: A5081111687

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition) 1

2021 · Daniel J. Klionsky, Amal Kamal Abdel-Aziz, et al. · Autophagy · 2,608

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

2007 · Michela Guglieri, Francesca Magri, et al. · Human Mutation · 202

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Congenital muscular dystrophies with defective glycosylation of dystroglycan

2009 · E. Mercuri, S. Messina, et al. · Neurology · 192

VMA21 deficiency prevents vacuolar ATPase assembly and causes autophagic vacuolar myopathy

2013 · Nivetha Ramachandran, Iulia Munteanu, et al. · Acta Neuropathologica · 139

Glycogen hyperphosphorylation underlies lafora body formation

2010 · Julie Turnbull, Peixiang Wang, et al. · Annals of Neurology · 113

Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)

2021 · Klionsky, Daniel J, Abdel-Aziz, Amal Kamal, et al. · Research at the University of Copenhagen (University of Copenhagen) · 104

The genetic basis of undiagnosed muscular dystrophies and myopathies

2016 · Marco Savarese, Giuseppina Di Fruscio, et al. · Neurology · 101

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Exosomes and exosomal miRNAs from muscle-derived fibroblasts promote skeletal muscle fibrosis

2018 · Simona Zanotti, Sara Gibertini, et al. · Matrix Biology · 91

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Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

2018 · Marco Savarese, Lorenzo Maggi, et al. · JAMA Neurology · 91

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Altered extracellular matrix transcript expression and protein modulation in primary Duchenne muscular dystrophy myotubes

2007 · S. Zanotti, S. Saredi, et al. · Matrix Biology · 91

Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

2015 · Alessandra Ruggieri, Francesco Brancati, et al. · Acta Neuropathologica Communications · 58

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CAOS—Episodic Cerebellar Ataxia, Areflexia, Optic Atrophy, and Sensorineural Hearing Loss

2015 · Gali Heimer, Yair Sadaka, et al. · Journal of Child Neurology · 52

Increased Laforin and Laforin Binding to Glycogen Underlie Lafora Body Formation in Malin-deficient Lafora Disease

2012 · Erica Tiberia, Julie Turnbull, et al. · Journal of Biological Chemistry · 48

DNAJB6 Myopathies: Focused Review on an Emerging and Expanding Group of Myopathies

2016 · Alessandra Ruggieri, Simona Saredi, et al. · Frontiers in Molecular Biosciences · 47

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POMT1 and POMT2 mutations in CMD patients: A multicentric Italian study

2008 · S. Messina, M. Mora, et al. · Neuromuscular Disorders · 42

Multiomic elucidation of a coding 99-mer repeat-expansion skeletal muscle disease

2020 · Alessandra Ruggieri, Sergey Naumenko, et al. · Acta Neuropathologica · 40

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Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy

2014 · A. Ruggieri, N. Ramachandran, et al. · Neuromuscular Disorders · 38

LAMA2 Gene Analysis in Congenital Muscular Dystrophy

2005 · Claudia Di Blasi, Daniela Piga, et al. · Archives of Neurology · 32

Late adult‐onset of X‐linked myopathy with excessive autophagy

2014 · Cameron D. Crockett, Alessandra Ruggieri, et al. · Muscle & Nerve · 29

Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies

2020 · Marco Savarese, Mridul Johari, et al. · Journal of Neuromuscular Diseases · 26

Congenital autophagic vacuolar myopathy is allelic to X-linked myopathy with excessive autophagy

2015 · Iulia Munteanu, Nivetha Ramachandran, et al. · Neurology · 26

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Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease

2012 · S. Saredi, A. Ardissone, et al. · Journal of the Neurological Sciences · 22

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Protein Aggregates and Aggrephagy in Myopathies

2023 · Sara Gibertini, Alessandra Ruggieri, et al. · International Journal of Molecular Sciences · 17

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Long term follow-up and further molecular and histopathological studies in the LGMD1F sporadic TNPO3-mutated patient

2018 · Sara Gibertini, Alessandra Ruggieri, et al. · Acta Neuropathologica Communications · 15

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A CASQ1 founder mutation in three Italian families with protein aggregate myopathy and hyperCKaemia

2015 · Claudia Di Blasi, Serena Sansanelli, et al. · Journal of Medical Genetics · 14

Works count: 56

Citation count: 4,307

H-index: 22

I10-index: 27