Claudia Crimella

Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot–Marie–Tooth type 2

Claudia Crimella, Cinzia Baschirotto, Alessia Arnoldi et al. · Clinical Genetics · 2011 · 156 citations

Genetics, Molecular Genetics, Disease Gene Identification +17

A clinical, genetic, and biochemical characterization of<i>SPG7</i>mutations in a large cohort of patients with hereditary spastic paraplegia

Alessia Arnoldi, Alessandra Tonelli, Francesca Crippa et al. · Human Mutation · 2008 · 100 citations

Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15

Chiara Vantaggiato, Claudia Crimella, Giovanni Airoldi et al. · Brain · 2013 · 86 citations · Full text

Genetics, Molecular Biology, Cytoskeleton +17

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K

Claudia Crimella, A. Tonelli, Giovanni Airoldi et al. · Journal of Medical Genetics · 2010 · 49 citations · Full text

Clinical phenotype variability in patients with hereditary spastic paraplegia type 5 associated with <i>CYP7B1</i> mutations

Alessia Arnoldi, Claudia Crimella, Erika Tenderini et al. · Clinical Genetics · 2011 · 44 citations