G. Fratta

发表

Screening of neurofibromatosis type 1 gene: identification of a large deletion and of an intronic variant

P. Gasparini, B. Dallapiccola, L. Zelante, 1995, Clinical genetics.

OXPHOS defects and mitochondrial DNA mutations in cardiomyopathy

M. Zeviani, P. Rustin, C. Mariotti, 1995, Muscle & nerve. Supplement.

An autosomal locus predisposing to multiple deletions of mtDNA on chromosome 3p.

L. Peltonen, J. Weissenbach, G. Comi, 1996, American journal of human genetics.

Maternally inherited hearing loss, ataxia and myoclonus associated with a novel point mutation in mitochondrial tRNASer(UCN) gene.

V. Tiranti, M. Zeviani, P. Girlanda, 1995, Human molecular genetics.

Searching for genes affecting the structural integrity of the mitochondrial genome.

G. Comi, V. Tiranti, M. Zeviani, 1995, Biochimica et biophysica acta.

Mitochondrial disease associated with the T8993G mutation of the mitochondrial ATPase 6 gene: a clinical, biochemical, and molecular study in six families

M. Zeviani, E. Lamantea, G. Uziel, 1997, Journal of neurology, neurosurgery, and psychiatry.

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita

B. Dallapiccola, G. Novelli, S. Servidei, 1998, Human mutation.

Identification of five new mutations and three novel polymorphisms in the muscle chloride channel gene (CLCN1) in 20 Italian patients with dominant and recessive myotonia congenita. Mutations in brief no. 118. Online.

B. Dallapiccola, G. Novelli, F. Sangiuolo, 1998, Human Mutation.

Divergence Between Clinical Trial Evidence and Actual Practice in Use of Dual Antiplatelet Therapy After Transient Ischemic Attack and Minor Stroke

L. Cupini, L. Bonanni, S. Sacco, 2023, Stroke.