D

DONATI MA

Last name: DONATI MA

2005 (v1)

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Phenotypic heterogeneity in two unrelated Danon patients associated with the same LAMP2 gene mutation.

BERTINI E DONATI MA BRODA P

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Uploaded on: October 11, 2023
2008 (v1)

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Truncation of Caveolin-3 causes autosomal-recessive Rippling Muscle Disease

TRAVERSO M BRUNO C BROCCOLINI A

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Uploaded on: April 14, 2023
2008 (v1)

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Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro.

TRAVERSO M GAZZERRO E ASSERETO S

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Uploaded on: April 14, 2023
1998 (v1)

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Mutations in the caveolin-3 gene cause autosomal dominant limb-girdle muscular dystrophy.

MINETTI, CARLO SOTGIA F BRUNO C

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Uploaded on: April 14, 2023