List of works - Romina Romaniello

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

scientific article

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern

scientific article published on 29 October 2013

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

scientific article

Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype

scientific article published on 11 November 2015

Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.

scientific article

Automatic localization of cerebral cortical malformations using fractal analysis.

scientific article published on 22 July 2016

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

scientific article

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

scientific article published on 5 December 2012

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study

scientific article published on 30 July 2020

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

scientific article published on 28 September 2016

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

scientific article published on 02 March 2016

Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report

scientific article published on 19 October 2015

Cryptogenic Epileptic Syndromes Related to SCN1A

scientific article published on 01 April 2008

Defining the phenotypical spectrum associated with variants in TUBB2A

scientific article published on 22 June 2020

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

scientific article

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

scientific article published on 11 May 2012

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article published on 12 September 2017

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

scientific article published on 30 May 2015

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

scientific article published on 31 July 2020

Learning to live without the cerebellum.

scientific article published on September 2015

Mutations in α- and β-tubulin encoding genes: implications in brain malformations

scientific article published on 05 July 2014

Neurophysiological and clinical findings on Nodding Syndrome in 21 South Sudanese children and a review of the literature

scientific article

Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents

scientific article published on 31 October 2013

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

scientific article

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

scientific article

Social prediction in pediatric patients with congenital, non-progressive malformations of the cerebellum: From deficits in predicting movements to rehabilitation in virtual reality

scientific article published in 2021

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

scientific article

List of works by Romina Romaniello

A de-novo STXBP1 gene mutation in a patient showing the Rett syndrome phenotype.

A novel mutation in STXBP1 gene in a child with epileptic encephalopathy and an atypical electroclinical pattern

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation.

Aberrant supracallosal longitudinal bundle: MR features, pathogenesis and associated clinical phenotype

Anterior Mesencephalic Cap Dysplasia: Novel Brain Stem Malformative Features Associated with Joubert Syndrome.

Automatic localization of cerebral cortical malformations using fractal analysis.

Brain malformations and mutations in α- and β-tubulin genes: a review of the literature and description of two new cases.

Cerebroretinal microangiopathy with calcifications and cysts associated with CTC1 and NDP mutations.

Characterizing White Matter Tract Organization in Polymicrogyria and Lissencephaly: A Multifiber Diffusion MRI Modeling and Tractography Study

Clinical Characterization, Genetics, and Long-Term Follow-up of a Large Cohort of Patients With Agenesis of the Corpus Callosum.

Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti-Boltshauser syndrome).

Cognitive rehabilitation in a child with Joubert Syndrome: Developmental trends and adaptive changes in a single case report

Cryptogenic Epileptic Syndromes Related to SCN1A

Defining the phenotypical spectrum associated with variants in TUBB2A

Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Electroclinical pattern in MECP2 duplication syndrome: eight new reported cases and review of literature

Erratum to: Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation

Functional genome-wide siRNA screen identifies KIAA0586 as mutated in Joubert syndrome ⬇️

Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders

Learning to live without the cerebellum.

Mutations in α- and β-tubulin encoding genes: implications in brain malformations

Neurophysiological and clinical findings on Nodding Syndrome in 21 South Sudanese children and a review of the literature

Novel SETX variants in a patient with ataxia, neuropathy, and oculomotor apraxia are associated with normal sensitivity to oxidative DNA damaging agents

Novel splice-site mutations and a large intragenic deletion in PLA2G6 associated with a severe and rapidly progressive form of infantile neuroaxonal dystrophy.

Oral-facial-digital syndrome type VI: is C5orf42 really the major gene?

Social prediction in pediatric patients with congenital, non-progressive malformations of the cerebellum: From deficits in predicting movements to rehabilitation in virtual reality

Tubulin-related cerebellar dysplasia: definition of a distinct pattern of cerebellar malformation