S. Scapolan

发表

Familial Occurrence of Febrile Seizures and Epilepsy in Severe Myoclonic Epilepsy of Infancy (SMEI) Patients with SCN1A Mutations

E. Bertini, P. Striano, F. Zara, 2006, Epilepsia.

Caveolin-3 T78M and T78K missense mutations lead to different phenotypes in vivo and in vitro

F. Zara, F. Sotgia, M. Lisanti, 2008, Laboratory Investigation.

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

M. Valle, C. Bruno, F. Santorelli, 2013, Biochemical and biophysical research communications.

Phenotypic characterization of hypomyelination and congenital cataract

F. Zara, F. Sotgia, M. Lisanti, 2007, Annals of neurology.

Facioscapulohumeral muscular dystrophy: hearing loss and other atypical features of patients with large 4q35 deletions

G. Siciliano, C. Bruno, G. Tomelleri, 2008, European journal of neurology.

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

F. Zara, A. Tessa, C. Bruno, 2007, Biochemical and biophysical research communications.

Antimicrobial use and Pseudomonas aeruginosa susceptibility profile in a cystic fibrosis centre.

R. Lorini, M. Cruciani, M. Mentasti, 2005, International journal of antimicrobial agents.

POMGnT1 mutations in congenital muscular dystrophy: genotype-phenotype correlation and expanded clinical spectrum.

M. Manfredi, F. Zara, A. D’Amico, 2006, Archives of neurology.

Progressive exercise intolerance associated with a new muscle‐restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene

A. Tessa, C. Bruno, F. Santorelli, 2003, Muscle & nerve.

Allelic and phenotypic heterogeneity in 49 Italian patients with the muscle form of CPT‐II deficiency

A. D’Amico, C. Angelini, G. Siciliano, 2012, Clinical genetics.

Novel mutations in the fukutin gene in a boy with asymptomatic hyperCKemia

C. Bruno, F. Santorelli, R. Battini, 2013, Neuromuscular Disorders.

The arthrochalasia type of Ehlers–Danlos syndrome (EDS VIIA and VIIB): The diagnostic value of collagen fibril ultrastructure

M. Pedemonte, C. Giunta, B. Steinmann, 2008, American journal of medical genetics. Part A.

Subclinical myopathy in a child with neutral lipid storage disease and mutations in the PNPLA2 gene.

M. Valle, C. Bruno, F. Santorelli, 2013, Biochemical and biophysical research communications.