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Orphanet Journal of Rare Diseases|July 10, 2010
Joubert Syndrome and related disordersFrancesco Brancati, Bruno Dallapiccola, Enza Maria Valente
European Journal of Medical Genetics|January 1, 2008
Genotypes and phenotypes of Joubert syndrome and related disordersEnza Maria Valente, Francesco Brancati, Bruno Dallapiccola
Annals of Neurology|July 12, 2002
Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34Enza Maria Valente, Francesco Brancati, Viviana Caputo, et al.
Investigative Ophthalmology & Visual Science|September 28, 2005
A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophiesMarco Castori, Enza Maria Valente, Maurizio Clementi, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|March 29, 2002
Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystoniaFrancesco Brancati, Giovanni Defazio, Viviana Caputo, et al.
The Lancet. Neurology|November 15, 2008
Genetic testing for paediatric neurological disordersEnza Maria Valente, Alessandro Ferraris, Bruno Dallapiccola
Handbook of Clinical Neurology|April 30, 2013
Joubert syndrome and related disordersEnza Maria Valente, Bruno Dallapiccola, Enrico Bertini
American Journal of Human Genetics|August 9, 2003
Description, nomenclature, and mapping of a novel cerebello-renal syndrome with the molar tooth malformationEnza Maria Valente, Damiano Carmelo Salpietro, Francesco Brancati, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|September 25, 2004
A novel family with an unusual early-onset generalized dystoniaGiovanni Fabbrini, Francesco Brancati, Laura Vacca, et al.
Movement Disorders : Official Journal of the Movement Disorder Society|January 23, 2003
Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned geneGiovanni Defazio, Francesco Brancati, Enza Maria Valente, et al.
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