Lista de obras -

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies

artículo científico publicado en 2005

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

artículo científico publicado en 2012

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family

artículo científico

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

artículo científico publicado en 2016

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

artículo científico publicado en 2003

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

artículo científico publicado en 2004

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance

artículo científico publicado en 2020

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

artículo científico publicado en 2013

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

artículo científico publicado en 2005

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

artículo científico publicado en 2015

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

artículo científico publicado en 2015

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

article

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

article

PARK6-linked parkinsonism occurs in several European families

artículo científico publicado en 2002

PINK1 mutations are associated with sporadic early-onset parkinsonism

artículo científico publicado en 2004

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation

scientific article published on 22 November 2019

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

artículo científico publicado en 2015

Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.

scientific article published on September 2009

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

scientific journal article

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

artículo científico publicado en 2018

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.

artículo científico publicado en 2016

Lista de obras de

A novel locus for autosomal dominant cone and cone-rod dystrophies maps to the 6p gene cluster of retinal dystrophies

A restricted spectrum of mutations in the SMAD4 tumor-suppressor gene underlies Myhre syndrome

Autosomal dominant Brody disease cosegregates with a chromosomal (2;7)(p11.2;p12.1) translocation in an Italian family

Exome sequencing in children of women with skewed X-inactivation identifies atypical cases and complex phenotypes.

Familial blepharospasm is inherited as an autosomal dominant trait and relates to a novel unassigned gene.

Hereditary early-onset Parkinson's disease caused by mutations in PINK1

Heterozygous nonsense ARX mutation in a family highlights the complexity of clinical and molecular diagnosis in case of chromosomal and single gene disorder co-inheritance

Loss of function of the E3 ubiquitin-protein ligase UBE3B causes Kaufman oculocerebrofacial syndrome

Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism

Mutations Impairing GSK3-Mediated MAF Phosphorylation Cause Cataract, Deafness, Intellectual Disability, Seizures, and a Down Syndrome-like Facies

Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.

Novel Italian family supports clinical and genetic heterogeneity of primary adult-onset torsion dystonia

Novel locus for autosomal dominant pure hereditary spastic paraplegia (SPG19) maps to chromosome 9q33-q34

PARK6-linked parkinsonism occurs in several European families

PINK1 mutations are associated with sporadic early-onset parkinsonism

Prenatal whole exome sequencing detects a new homozygous fukutin (FKTN) mutation in a fetus with an ultrasound suspicion of familial Dandy-Walker malformation

Protracted late infantile ceroid lipofuscinosis due to TPP1 mutations: Clinical, molecular and biochemical characterization in three sibs

Quantification of small non-coding RNAs allows an accurate comparison of miRNA expression profiles.

TBCE Mutations Cause Early-Onset Progressive Encephalopathy with Distal Spinal Muscular Atrophy

Whole exome sequencing in an Italian family with isolated maxillary canine agenesis and canine eruption anomalies.

Whole exome sequencing is necessary to clarify ID/DD cases with de novo copy number variants of uncertain significance: Two proof-of-concept examples.