I. Carbone

发表

Identification of novel WFS1 mutations in Italian children with Wolfram syndrome

R. Lorini, A. Tessa, C. Bruno, 2001, Human mutation.

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and persistent elevated levels of serum creatine kinase

F. Zara, M. Lisanti, C. Bruno, 2000, Neurology.

Mutation in the CAV3 gene causes partial caveolin-3 deficiency and hyperCKemia.

F. Zara, F. Sotgia, M. Lisanti, 2000, Neurology.

A novel hepatocyte nuclear factor-1β (MODY-5) gene mutation in an Italian family with renal dysfunctions and early-onset diabetes

R. Lorini, G. Caridi, C. Minetti, 2002, Diabetologia.

Increased number of caveolae and caveolin-3 overexpression in Duchenne muscular dystrophy.

F. Sotgia, M. Lisanti, C. Minetti, 1999, Biochemical and biophysical research communications.

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene

F. Sotgia, M. Lisanti, C. Bruno, 2002, Journal of neurology, neurosurgery, and psychiatry.

Mapping of a locus for a familial autosomal recessive idiopathic myoclonic epilepsy of infancy to chromosome 16p13.

F. Zara, E. Gennaro, F. Bricarelli, 2000, American journal of human genetics.

No Evidence of a Major Locus for Benign Familial Infantile Convulsions on Chromosome 19q12‐q13.1

F. Zara, R. Guerrini, E. Gennaro, 1999, Epilepsia.

Tubulopathy, endocrinopathies and encephalomyopathy in a child with a novel large‐scale mitochondrial DNA deletion

C. Bruno, C. Minetti, F. Santorelli, 2002, Clinical genetics.

Familial isolated hyperCKaemia associated with a new mutation in the caveolin-3 (CAV-3) gene

M. Lisanti, P. Sabatelli, I. Carbone, 2002, Journal of neurology, neurosurgery, and psychiatry.