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PEZZINI , I

Last name: PEZZINI

First name: I

2015 (v1)

Publication

Metadata-only

Contribution of copy number variations in CMT1X: a retrospective study.

CAPPONI, SIMONA GEROLDI, ALESSANDRO GULLI, ROSSELLA

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Uploaded on: April 14, 2023
2016 (v1)

Publication

Metadata-only

GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course

Pezzini, I GEROLDI, ALESSANDRO CAPPONI, SIMONA

Mutations in the ganglioside-induced differentiation associated-protein 1 (GDAP1) gene have been associated with both autosomal recessive (AR) and dominant (AD) Charcot-Marie-Tooth (CMT) axonal neuropathy. The relative frequency of heterozygous, dominant mutations in Italian CMT is unknown. We investigated the frequency of dominant mutations in...

Uploaded on: April 14, 2023