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VIHOLA , Anna

Last name: VIHOLA

First name: Anna

2018 (v1)

Publication

Metadata-only

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders

Savarese, Marco Maggi, Lorenzo Vihola, Anna

Mutations in the titin gene (TTN) cause a wide spectrum of genetic diseases. The interpretation of the numerous rare variants identified in TTN is a difficult challenge given its large size.

Uploaded on: April 14, 2023
November 2018 (v1)

Journal article

Metadata-only

Loss of MICOS complex integrity and mitochondrial damage, but not TDP-43 mitochondrial localisation, are likely associated with severity of CHCHD10-related diseases

Génin, Emmanuelle Bannwarth, Sylvie Lespinasse, Françoise

International audience

Uploaded on: December 4, 2022