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GEROLDI , A

Last name: GEROLDI

First name: A

2019 (v1)

Publication

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Mutation update for myelin protein zero-related neuropathies and the increasing role of variants causing a late-onset phenotype

Callegari, Ilaria Gemelli, C Geroldi, A

Mutations of myelin protein zero gene (MPZ) are found in 5% of Charcot-Marie-Tooth patients. In 2004, Shy et al. identified two main phenotypes associated with them: an early-onset subtype with mainly demyelinating features and a late-onset subgroup with prominent axonal impairment. We evaluated whether novel MPZ mutations described in...

Uploaded on: April 14, 2023
2024 (v1)

Publication

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A PROPOSAL FOR IMPROVEMENT OF ACMG GUIDELINES FOR VARIANTS EVALUATION IN CHARCOT-MARIE-TOOTH DISEASE MOLECULAR DIAGNOSIS

Geroldi, A Mammi, A Gaudio, A

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Uploaded on: October 24, 2024
2023 (v1)

Publication

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ROLE OF MME IN LATE ONSET AXONAL CMT: ANALYSIS OF AN ITALIAN CMT2 COHORT

La Barbera, A Geroldi, A Origone, P

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Uploaded on: October 11, 2023