List of works - Anna Rubegni

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia

scientific article

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

scientific article published on 16 March 2010

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings

scientific article published on 3 June 2016

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy

scientific article published on 3 March 2015

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report

scientific article published on 22 November 2018

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

article

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

scientific article published on 10 May 2015

Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.

scientific article published on 7 July 2008

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

scientific article published on 8 February 2018

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

scientific article published on 06 February 2019

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation

scientific article published on 01 April 2019

Congenital myopathies: clinical phenotypes and new diagnostic tools

scientific article published on 15 November 2017

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

scientific article published on 26 October 2018

Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.

scientific article published on 29 April 2013

Hereditary spastic paraplegia type 11 with a very late onset

scientific article published on 17 July 2015

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families

scientific article published on 22 July 2016

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

scientific article published on 12 February 2018

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

scientific article published on 15 April 2017

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.

scientific article published on 7 November 2016

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

scientific article published on 4 February 2016

Molecular genotype in migraine

scientific article published on December 2015

Muscle pain in mitochondrial diseases: a picture from the Italian network

article

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

scientific article published on 3 April 2018

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

scientific article

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

article

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients

scientific article published on 27 January 2017

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

scientific article published on 17 February 2016

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

scientific article published on 02 July 2019

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

scientific article published on 25 February 2016

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

scientific article published on 03 September 2018

Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1".

scientific article

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

scientific article published on 30 August 2018

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

scientific article

SCN11A variant as possible pain generator in sensory axonal neuropathy

scientific article published on 08 January 2019

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

scientific article published on 27 January 2017

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

scientific article published on 7 June 2015

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation ⬇️

scientific article published on August 24, 2012

Tarlov cysts: clinical evaluation of an italian cohort of patients ⬇️

scientific article published on February 12, 2013

Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

scientific article published on 01 January 2019

The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine

scientific article

The features of the m.10197G>A mtDNA mutation

scientific article published on 04 April 2019

List of works by Anna Rubegni

A case of 3243A>G mutation in mtDNA presenting as apparently idiopathic hyperCKemia

A second MNGIE patient without typical mitochondrial skeletal muscle involvement.

A series of Greek children with pure hereditary spastic paraplegia: clinical features and genetic findings

Additive effect of nuclear and mitochondrial mutations in a patient with mitochondrial encephalomyopathy

Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report

Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study

Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

Chronic progressive external ophthalmoplegia: a new heteroplasmic tRNA(Leu(CUN)) mutation of mitochondrial DNA.

Clinical and neuroimaging features of autosomal recessive spastic paraplegia 35 (SPG35): case reports, new mutations, and brief literature review.

Clinical and neuroimaging features of the m.10197G>A mtDNA mutation: New case reports and expansion of the phenotype variability

Complex multisystem phenotype associated with the mitochondrial DNA m.5522G>A mutation

Congenital myopathies: clinical phenotypes and new diagnostic tools

Copy Number Variants Account for a Tiny Fraction of Undiagnosed Myopathic Patients

Electron-dense lamellated inclusions in 2 siblings with Kufor-Rakeb syndrome.

Hereditary spastic paraplegia type 11 with a very late onset

Identification of mutations in AP4S1/SPG52 through next generation sequencing in three families

Interpreting Genetic Variants in Titin in Patients With Muscle Disorders.

Leigh-like neuroimaging features associated with new biallelic mutations in OPA1.

MELAS Syndrome with Cardiac Involvement: A Multimodality Imaging Approach.

Mitochondrial dysfunction in hereditary spastic paraparesis with mutations in DDHD1/SPG28.

Molecular genotype in migraine

Muscle pain in mitochondrial diseases: a picture from the Italian network

Myoclonus epilepsy, retinitis pigmentosa, leukoencephalopathy and cerebral calcifications associated with a novel m.5513G>A mutation in the MT-TW gene.

Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features--a case report

Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

Novel POLG mutations and variable clinical phenotypes in 13 Italian patients

Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers

Novel homozygous TSFM pathogenic variant associated with encephalocardiomyopathy with sensorineural hearing loss and peculiar neuroradiologic findings

Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family

Prevalence and phenotype of the c.1529C>T SPG7 variant in adult-onset cerebellar ataxia in Italy

Response to the letter to the Editor regarding "Leigh-like neuroimaging features associated with new bi-allelic mutations in OPA1".

Reversible Valproate-Induced Subacute Encephalopathy Associated With a MT-ATP8 Variant in the Mitochondrial Genome

Revisiting mitochondrial ocular myopathies: a study from the Italian Network.

SCN11A variant as possible pain generator in sensory axonal neuropathy

SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing.

Sporadic PEO caused by a novel POLG variation and a Twinkle mutation: digenic inheritance?

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T&gt;C MTTK mutation ⬇️

Tarlov cysts: clinical evaluation of an italian cohort of patients ⬇️

Teaching NeuroImages: Leigh-like features expand the picture of PMPCA-related disorders

The Revolution in Migraine Genetics: From Aching Channels Disorders to a Next-Generation Medicine

The features of the m.10197G>A mtDNA mutation

Sporadic myopathy, myoclonus, leukoencephalopathy, neurosensory deafness, hypertrophic cardiomyopathy and insulin resistance associated with the mitochondrial 8306 T>C MTTK mutation ⬇️