Magri Stefania - Unit Rare Neurodegenerat & Neurometab Dis, C Besta Neurol Inst

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论文共 115 篇作者统计合作学者相似作者

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AMINOLEVULINIC ACID DEHYDRATASE PORPHYRIA: A ULTRARARE EARLY-ONSET AXONAL NEUROPATHY

Federica Rachele Danti,Franco Taroni,Daniela Di Bella,Claudia Ciano, Carlo Poci,Isabella Moroni,Stefania Magri

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S16-S17

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A Familial Form of Charcot-Marie-Tooth Disease (type 2d) Caused by a Previously Unreported Variant in GARS1

Dora Varvara,Serena Lattante,Stefania Magri,Francesca Balistreri, Francesca De Razza, Franco Taroni, Salvatore Mauro

JOURNAL OF NEUROGENETICS (2024)

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Paroxysmal Non-Kinesigenic Dyskinesias Associated with Biallelic POLG Variants: A Case Report

Barbara Castellotti,Cinzia Gellera,Davide Caputo,Federica Rachele Danti,Giuliana Messina,Marinella Corbetta,Stefania Magri, Franco Taroni,Holger Prokisch,Michael Zech,Giovanna Zorzi

Movement disorders official journal of the Movement Disorder Societyno. 12 (2024): 2300-2302

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MYELIN PROTEIN ZERO MUTATIONS: CLUSTERS ACROSS ITALY

Alessandro Bertini,Luca Gentile,Tiziana Cavallaro,Stefano Tozza,Paola Saveri,Massimo Russo,Sara Massucco,Yuri Falzone,Emilia Bellone,Federica Taioli,Alessandro Geroldi,Giuseppe Occhipinti,

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S7-S8

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SORD AND SORD2P INVERSION: LONG READ SEQUENCING IDENTIFIES A NOVEL GENETIC MECHANISM UNDERLYING INHERITED NEUROPATHY

Elisa Vegezzi,Arianna Manini,Stefano Facchini,Chiara Pisciotta,Adriana Rebelo, Jacquelyn Schatzman,Ricardo P. Schnekenberg,Riccardo Curro,Natalia Dominik,Stephanie Efthymiou,Tiffany Grider,Shawna M. E. Feely,

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S49-S50

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PERIPHERAL MYELIN PROTEIN-22 POINT MUTATIONS: ASSOCIATED CLINICAL PHENOTYPES AND POTENTIAL PATHOMECHANISM

Paola Saveri,Cinzia Ferri,Luca Crivellari,Chiara Pisciotta, Rosa Bonaccorso,Eleonora Cavalca,Claudia Ciano, Beatrice Casini,Paola Fossa,Francesca Balistreri,Stefania Magri, Franco Taroni,

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S42-S43

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Phenotypic Spectrum and Natural History of Gillespie Syndrome. an Updated Literature Review with 2 New Cases

Claudia Ciaccio,Matilde Taddei,Chiara Pantaleoni,Marina Grisoli,Daniela Di Bella,Stefania Magri,Franco Taroni,Stefano D’Arrigo

CEREBELLUM (2024)

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AN AGGRESSIVE DEMYELINATING NEUROPATHY MIMICKING CHARCOT-MARIE-TOOTH DISEASE

Amedeo De Grado,Chiara Pisciotta,Chiara Benzoni,Ettore Salsano,Marinella Corbetta,Stefania Magri,Franco Taroni,Davide Pareyson

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S18-S18

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Distribution of the C9orf72 Hexanucleotide Repeat Expansion in Healthy Subjects: a Multicenter Study Promoted by the Italian IRCCS Network of Neuroscience and Neurorehabilitation

Emiliano Giardina,Paola Mandich,Roberta Ghidoni,Nicola Ticozzi,Giacomina Rossi,Chiara Fenoglio,Francesco Danilo Tiziano,Federica Esposito,Sabina Capellari,Benedetta Nacmias,Rossana Mineri,Rosa Campopiano,

FRONTIERS IN NEUROLOGY（2024）

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Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis (vol 146, pg 5060, 2023)

Natalia Dominik,Stefania Magri,Riccardo Curro,Elena Abati,Stefano Facchini,Marinella Corbetta,Hannah Macpherson,Daniela Di Bella,Elisa Sarto,Igor Stevanovski,Sanjog R. Chintalaphani,Fulya Akcimen,

BRAINno. 2 (2024): e23-e23

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