Lista de obras -

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

artículo científico publicado en 2015

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

artículo científico publicado en 2017

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

artículo científico publicado en 2006

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

artículo científico publicado en 2018

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

artículo científico publicado en 2017

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

artículo científico publicado en 2018

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis

Expanding the clinical phenotype of CAPN1- associated mutations: A new case with congenital-onset pure spastic paraplegia

artículo científico publicado en 2017

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

scientific article published on 05 December 2019

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

artículo científico publicado en 2017

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

artículo científico publicado en 2016

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

artículo científico publicado en 2005

Mutation screening of the DYT6/THAP1 gene in Italy

artículo científico publicado en 2009

Mutations Causing Mild or No Structural Damage in Interfaces of Multimerization of the Fibrinogen γ-Module More Likely Confer Negative Dominant Behaviors

artículo científico publicado en 2020

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

artículo científico publicado en 2006

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.

artículo científico publicado en 2018

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

scientific article published on 15 October 2018

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

scientific journal article

TRIB3 R84 Variant Is Associated With Impaired Insulin-Mediated Nitric Oxide Production in Human Endothelial Cells

artículo científico publicado en 2008

The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells

artículo científico publicado en 2011

Lista de obras de

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

A mild form of adenylosuccinate lyase deficiency in absence of typical brain MRI features diagnosed by whole exome sequencing

AHI1 gene mutations cause specific forms of Joubert syndrome-related disorders

Clinical, biochemical and genetic features associated with VARS2-related mitochondrial disease.

De novo p.T362R mutation in MORC2 causes early onset cerebellar ataxia, axonal polyneuropathy and nocturnal hypoventilation

Defective kinesin binding of TUBB2A causes progressive spastic ataxia syndrome resembling sacsinopathy.

Description of a novel TUBA1A mutation in Arg-390 associated with asymmetrical polymicrogyria and mid-hindbrain dysgenesis

Expanding the clinical phenotype of CAPN1- associated mutations: A new case with congenital-onset pure spastic paraplegia

Hereditary spastic paraplegia is a novel phenotype for germline de novo ATP1A1 mutation

Identification of novel and hotspot mutations in the channel domain of ITPR1 in two patients with Gillespie syndrome.

Missense mutations of CACNA1A are a frequent cause of autosomal dominant nonprogressive congenital ataxia

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

Mutation screening of the DYT6/THAP1 gene in Italy

Mutations Causing Mild or No Structural Damage in Interfaces of Multimerization of the Fibrinogen γ-Module More Likely Confer Negative Dominant Behaviors

Mutations in CEP290, which encodes a centrosomal protein, cause pleiotropic forms of Joubert syndrome

Novel Homozygous KCNJ10 Mutation in a Patient with Non-syndromic Early-Onset Cerebellar Ataxia.

Specific combinations of biallelic variants cause Wiedemann-Rautenstrauch syndrome

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

TRIB3 R84 Variant Is Associated With Impaired Insulin-Mediated Nitric Oxide Production in Human Endothelial Cells

The SH2B1 obesity locus is associated with myocardial infarction in diabetic patients and with NO synthase activity in endothelial cells