C. Angelini

Aberrant splicing and expression of the non muscle myosin heavy-chain gene MYH14 in DM1 muscle tissues

G. Novelli, L. Vergani, R. Massa, 2012, Neurobiology of Disease.

Survival motor neuron gene transcript analysis in muscles from spinal muscular atrophy patients.

B. Dallapiccola, A. Pizzuti, G. Novelli, 1995, Biochemical and biophysical research communications.

Transcriptional behavior of DMD gene duplications in DMD/BMD males

E. Bertini, M. Pane, E. Mercuri, 2009, Human mutation.

De novo coding variants in the AGO1 gene cause a neurodevelopmental disorder with intellectual disability

Michael T. Zimmermann, Nikita R. Dsouza, S. Antonarakis, 2020, Journal of Medical Genetics.

CACNA1A-associated epilepsy: Electroclinical findings and treatment response on seizures in 18 patients.

A. Biraben, L. Valton, A. Vermersch, 2021, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

HRAS germline mutations impair LKB1/AMPK signaling and mitochondrial homeostasis in Costello syndrome models

Y. Hérault, T. Sorg, K. Kissa, 2022, The Journal of clinical investigation.

Muscle histopathology in myasthenia gravis with antibodies against MuSK and AChR

E. Pegoraro, M. Fanin, C. Angelini, 2009, Neuropathology and applied neurobiology.

Cardiac and respiratory involvement in advanced stage Duchenne muscular dystrophy

A. Vianello, M. Fanin, C. Angelini, 1996, Neuromuscular Disorders.