Monica Sciacco - Neuromuscular and Rare Disease Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico

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论文共 179 篇作者统计合作学者相似作者

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Natural History of Spinal Involvement in Neurofibromatosis Type 1: Clues from "reverse Follow-Up"

Claudia Cesaretti,Beatrice Conti,Federico Grilli,Silvia Casale,Paola Riva,Viviana Tritto,Maria Cristina Ibba, Antonia Valentina Genovese,Monica Sciacco,Manuela Caroli,Marica Eoli,Sabrina Avignone,Federica Natacci

EUROPEAN JOURNAL OF HUMAN GENETICS (2024): 239-239

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673P Magnetization Transfer Imaging in Late-Onset Pompe Disease

M. Croce, F. Naz, L. Barzaghi, M. Paoletti,T. Mongini,S. Gasperini, M. Filosto, L. Maggi, A. Sechi, M. Grandis,M. Sacchini,M. Sciacco,L. Vercelli, C. Bonizzoni, N. Bergsland,F. Santini, X. Deligianni,S. Ravaglia,A. Pichiecchio

Neuromuscular Disorders（2024）

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Association Between ZASP/LDB3 Pro26Ser and Inclusion Body Myopathy

Daniela Piga,Simona Zanotti,Michela Ripolone,Laura Napoli,Patrizia Ciscato,Sara Gibertini,Lorenzo Maggi,Francesco Fortunato,Andrea Rigamonti,Dario Ronchi,Giacomo Pietro Comi,Stefania Corti,Monica Sciacco

International Journal of Molecular Sciencesno. 12 (2024): 6547-6547

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Guanylate Kinase 1 Deficiency: A Novel and Potentially Treatable Mitochondrial DNA Depletion/Deletions Disease

ANNALS OF NEUROLOGYno. 6 (2024): 1209-1224

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MERRF Mutation A8344G in a Four-Generation Family Without Central Nervous System Involvement: Clinical and Molecular Characterization

Michela Ripolone,Simona Zanotti,Laura Napoli,Dario Ronchi,Patrizia Ciscato,Giacomo Pietro Comi,Maurizio Moggio,Monica Sciacco

JOURNAL OF PERSONALIZED MEDICINEno. 1 (2023)

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Extracellular Matrix Disorganization and Sarcolemmal Alterations in COL6-Related Myopathy Patients with New Variants of COL6 Genes

Simona Zanotti,Francesca Magri,Sabrina Salani,Laura Napoli,Michela Ripolone,Dario Ronchi,Francesco Fortunato,Patrizia Ciscato,Daniele Velardo,Maria Grazia D'Angelo,Francesca Gualandi,Vincenzo Nigro,Monica Sciacco,Stefania Corti,Giacomo Pietro Comi,Daniela Piga

INTERNATIONAL JOURNAL OF MOLECULAR SCIENCESno. 6 (2023)

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Walking Difficulties and Brainstem Dysfunction: a Case Report of Adult Onset Leigh Syndrome

E. Cipriano,D. Vecchio,L. Mazzini,G. Strigaro,D. Piga,M. Sciacco,G.P. Comi,E. Genovese,R. Cantello

SN Comprehensive Clinical Medicine（2023）

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Using Cluster Analysis to Overcome the Limits of Traditional Phenotype–Genotype Correlations: the Example of RYR1-Related Myopathies

GENESno. 2 (2023)

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Traumatic Brain Injury Triggers Neurodegeneration in a Mildly Symptomatic MELAS Patient: Implications on the Detrimental Role of Damaged Mitochondria in Determining Head Trauma Sequalae in the General Population

Simona Zanotti,Daniele Velardo,Monica Sciacco

METABOLITES（2023）

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Characterization of Skeletal Muscle Biopsy and Derived Myoblasts in a Patient Carrying Arg14del Mutation in Phospholamban Gene

Simona Zanotti,Michela Ripolone,Laura Napoli,Daniele Velardo,Sabrina Salani,Patrizia Ciscato,Silvia Priori,Deni Kukavica,Andrea Mazzanti,Luca Diamanti,Elisa Vegezzi,Maurizio Moggio,Stefania Corti,Giacomo Comi,Monica Sciacco

CELLSno. 10 (2023)

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