Lista de obras - Vincenzo Salpietro - Dominio Público Uruguay

3T Double Inversion Recovery Magnetic Resonance Imaging: diagnostic advantages in the evaluation of cortical development anomalies

artículo científico publicado en 2016

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

artículo científico publicado en 2015

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea

artículo científico publicado en 2018

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

artículo científico publicado en 2017

A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study

artículo científico publicado en 2015

Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications

artículo científico publicado en 2014

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

artículo científico publicado en 2017

Correction to: Expanding the genetic heterogeneity of intellectual disability.

artículo científico publicado en 2017

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

artículo científico publicado en 2016

Delineation of the movement disorders associated withFOXG1mutations: Table 1

artículo científico publicado en 2016

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

artículo científico publicado en 2016

Evaluation of the basal ganglia in neurofibromatosis type 1.

artículo científico publicado en 2013

Expanding the genetic heterogeneity of intellectual disability

artículo científico publicado en 2017

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity

scientific article published on 15 November 2019

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

artículo científico publicado en 2017

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

artículo científico publicado en 2022

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

artículo científico publicado en 2017

Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns

artículo científico publicado en 2015

Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype

artículo científico publicado en 2015

Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis

artículo científico publicado en 2014

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients

article by Martino Ruggieri et al published 18 September 2012 in American Journal of Medical Genetics

New insights on the relationship between pseudotumor cerebri and secondary hyperaldosteronism in children

artículo científico publicado en 2012

PKD or Not PKD: That is the question

artículo científico publicado en 2016

PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly

artículo científico publicado en 2018

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

artículo científico publicado en 2017

Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement

scientific article published on 01 June 2014

Pediatric Idiopathic Intracranial Hypertension: Age, Gender, and Anthropometric Features at Diagnosis in a Large, Retrospective, Multisite Cohort

artículo científico publicado en 2016

Pediatric idiopathic intracranial hypertension and extreme childhood obesity: a role for weight gain.

artículo científico publicado en 2013

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

artículo científico publicado en 2016

Pseudotumor cerebri pathophysiology: the likely role of aldosterone

artículo científico publicado en 2014

Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up.

artículo científico publicado en 2012

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

artículo científico publicado en 2013

Stickler syndrome associated with epilepsy: report of three cases.

artículo científico publicado en 2015

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

artículo científico publicado en 2014

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

artículo científico publicado en 2017

Upper respiratory tract infection and torticollis in children: differential diagnosis of Grisel's syndrome

artículo científico publicado en 2012

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

artículo científico publicado en 2015

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13

artículo científico publicado en 2014

Zellweger syndrome and secondary mitochondrial myopathy

artículo científico

Lista de obras de Vincenzo Salpietro

3T Double Inversion Recovery Magnetic Resonance Imaging: diagnostic advantages in the evaluation of cortical development anomalies

A de novo 0.63 Mb 6q25.1 deletion associated with growth failure, congenital heart defect, underdeveloped cerebellar vermis, abnormal cutaneous elasticity and joint laxity.

A homozygous loss-of-function mutation in PDE2A associated to early-onset hereditary chorea

A loss-of-function homozygous mutation in DDX59 implicates a conserved DEAD-box RNA helicase in nervous system development and function.

A rare case of cerebellar agenesis: a probabilistic Constrained Spherical Deconvolution tractographic study

Adrenal disorders and the paediatric brain: pathophysiological considerations and clinical implications

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

Correction to: Expanding the genetic heterogeneity of intellectual disability.

De Novo Mutations in PDE10A Cause Childhood-Onset Chorea with Bilateral Striatal Lesions

Delineation of the movement disorders associated withFOXG1mutations: Table 1

Epilepsy in the setting of full trisomy 18: A multicenter study on 18 affected children with and without structural brain abnormalities

Evaluation of the basal ganglia in neurofibromatosis type 1.

Expanding the genetic heterogeneity of intellectual disability

Further supporting evidence for REEP1 phenotypic and allelic heterogeneity

Genotype-phenotype correlations and expansion of the molecular spectrum of AP4M1-related hereditary spastic paraplegia.

Genotype–phenotype correlations and disease mechanisms in PEX13-related Zellweger spectrum disorders

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Hyperhomocysteinemia and MTHFR polymorphisms as antenatal risk factors of white matter abnormalities in two cohorts of late preterm and full term newborns

Kenny Caffey syndrome with severe respiratory and gastrointestinal involvement: expanding the clinical phenotype

Mitochondria DNA depletion syndrome in a infant with multiple congenital malformations, severe myopathy, and prolonged postoperative paralysis

Nevus vascularis mixtus (cutaneous vascular twin nevi) associated with intracranial vascular malformation of the Dyke-Davidoff-Masson type in two patients

New insights on the relationship between pseudotumor cerebri and secondary hyperaldosteronism in children

PKD or Not PKD: That is the question

PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly

PRUNE is crucial for normal brain development and mutated in microcephaly with neurodevelopmental impairment

Pediatric Hashimoto's encephalopathy with peripheral nervous system involvement

Pediatric Idiopathic Intracranial Hypertension: Age, Gender, and Anthropometric Features at Diagnosis in a Large, Retrospective, Multisite Cohort

Pediatric idiopathic intracranial hypertension and extreme childhood obesity: a role for weight gain.

Pontocerebellar hypoplasia type 2D and optic nerve atrophy further expand the spectrum associated with selenoprotein biosynthesis deficiency

Pseudotumor cerebri pathophysiology: the likely role of aldosterone

Seizures and epilepsy in Sotos syndrome: analysis of 19 Caucasian patients with long-term follow-up.

Spinal neurofibromatosis with central nervous system involvement in a set of twin girls and a boy: further expansion of the phenotype.

Stickler syndrome associated with epilepsy: report of three cases.

The natural history of spinal neurofibromatosis: a critical review of clinical and genetic features

The phenotypic and molecular spectrum of PEHO syndrome and PEHO-like disorders.

Upper respiratory tract infection and torticollis in children: differential diagnosis of Grisel's syndrome

Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.

Wide spectrum of congenital anomalies including choanal atresia, malformed extremities, and brain and spinal malformations in a girl with a de novo 5.6-Mb deletion of 13q12.11-13q12.13

Zellweger syndrome and secondary mitochondrial myopathy