List of works - Roberta La Piana

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

scientific article

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia

scientific article published on 08 January 2015

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

scientific article

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation

scientific article

Assessment of clot length with multiphase CT angiography in patients with acute ischemic stroke

scientific article published in January 2017

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

scientific article published on 10 December 2015

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

scientific article published on 20 December 2013

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies

scientific article published on 7 October 2013

Brain reorganization after endovascular treatment in a patient with a large arteriovenous malformation: the role of diagnostic and functional neuroimaging techniques

scientific article published on 26 September 2013

COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.

scientific article published on 29 August 2012

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

scientific article

Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.

scientific article published on 23 August 2011

Diffuse hypomyelination is not obligate for POLR3-related disorders

scientific article published on 30 March 2016

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

scientific article

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

scientific article published on 5 January 2017

Interferon-related transcriptome alterations in the cerebrospinal fluid cells of Aicardi-Goutières patients

scientific article published on 23 October 2008

Intraventricular localization of an anaplastic oligodedendroglioma: a rare event

scientific article published in September 2012

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia

scientific article published on 26 February 2016

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene

scientific article published on 7 November 2014

Neural function in DCC mutation carriers with and without mirror movements

article

Neuro-ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects

scientific article published on 19 June 2012

Neurodevelopmental outcome of preterm very low birth weight infants born from 2005 to 2007.

scientific article published on 17 June 2012

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

scientific article published on 18 November 2015

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

scientific article published on 11 August 2015

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

scientific article

Response to Correspondence on “Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy”

scientific article published on 20 July 2011

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

scientific article published on 2 December 2015

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome

scientific article published on 24 October 2014

Spectrum of visual disorders in children with cerebral visual impairment

scientific article

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy

scientific article published on 22 March 2011

List of works by Roberta La Piana

4H Leukodystrophy: A Brain Magnetic Resonance Imaging Scoring System

A novel frameshift mutation in FGF14 causes an autosomal dominant episodic ataxia

A novel mutation in the CSF1R gene causes a variable leukoencephalopathy with spheroids

Adult-onset vanishing white matter disease due to a novel EIF2B3 mutation

Assessment of clot length with multiphase CT angiography in patients with acute ischemic stroke

Autosomal recessive cerebellar ataxia caused by a homozygous mutation in PMPCA.

Bilateral striatal necrosis in two subjects with Aicardi-Goutières syndrome due to mutations in ADAR1 (AGS6).

Brain magnetic resonance imaging (MRI) pattern recognition in Pol III-related leukodystrophies

Brain reorganization after endovascular treatment in a patient with a large arteriovenous malformation: the role of diagnostic and functional neuroimaging techniques

COL4A1-related disease: raised creatine kinase and cerebral calcification as useful pointers.

Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1.

Different mutations in three prime repair exonuclease 1 and ribonuclease H2 genes affect clinical features in Aicardi-Goutieres syndrome.

Diffuse hypomyelination is not obligate for POLR3-related disorders

Early-Onset Aicardi-Goutières Syndrome: Magnetic Resonance Imaging (MRI) Pattern Recognition.

Identification and functional characterization of a novel MTFMT mutation associated with selective vulnerability of the visual pathway and a mild neurological phenotype

Interferon-related transcriptome alterations in the cerebrospinal fluid cells of Aicardi-Goutières patients

Intraventricular localization of an anaplastic oligodedendroglioma: a rare event

Mutations in GALC cause late-onset Krabbe disease with predominant cerebellar ataxia

Myelination Delay and Allan-Herndon-Dudley Syndrome Caused by a Novel Mutation in the SLC16A2 Gene

Neural function in DCC mutation carriers with and without mirror movements

Neuro-ophthalmological disorders in cerebral palsy: ophthalmological, oculomotor, and visual aspects

Neurodevelopmental outcome of preterm very low birth weight infants born from 2005 to 2007.

Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndrome

Novel SIL1 mutations cause cerebellar ataxia and atrophy in a French-Canadian family

POLR3A and POLR3B Mutations in Unclassified Hypomyelination.

Response to Correspondence on “Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy”

SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases

Spastic paraparesis and marked improvement of leukoencephalopathy in Aicardi-Goutières syndrome

Spectrum of visual disorders in children with cerebral visual impairment

Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy