List of works - Vincenzo Salpietro

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

scientific article published on 21 February 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.

scientific article published in May 2015

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

scientific article published on 2 February 2018

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

scientific article published on 11 November 2017

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

scientific article published on 2 April 2015

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

scientific article

Clinical, pathological and functional characterization of riboflavin-responsive neuropathy

scientific article

Correction to: Expanding the genetic heterogeneity of intellectual disability.

scientific article published on 29 December 2017

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

scientific article published on April 2016

Delineation of the movement disorders associated withFOXG1mutations: Table 1

scientific article

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

scientific article

Evaluation of the basal ganglia in neurofibromatosis type 1.

scientific article published on 27 July 2013

Expanding the genetic heterogeneity of intellectual disability

scientific article published on 22 September 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.

scientific article published on 2 November 2017

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

scientific article published in 2022

Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

scientific article

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

scientific article

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

scientific article

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

scientific article published on 30 April 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

scientific article published on 01 March 2012

PKD or Not PKD: That is the question

scientific article published on 11 May 2016

PRRT2 Regulates Synaptic Fusion by Directly Modulating SNARE Complex Assembly

scientific article published in January 2018

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

scientific article

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

scientific article

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

scientific article

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

scientific article published on 11 January 2016

Pseudotumor cerebri pathophysiology: the likely role of aldosterone

scientific article published on 01 July 2014

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

scientific article published on 21 February 2012

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

scientific article

Stickler syndrome associated with epilepsy: report of three cases.

scientific article published on 27 March 2015

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

scientific article

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

scientific article

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

scientific article published on 05 April 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.

scientific article published in December 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

scientific article published on 07 May 2014

Zellweger syndrome and secondary mitochondrial myopathy

scientific article published on 07 October 2014

List of works by 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