List of works - Gabriella Silvestri

"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients

scientific article

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

scientific article published on 26 May 2010

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

scientific article

A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.

scientific article

A man with sarcoidosis and slurred speech

scientific article published on 18 September 2019

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.

scientific article published in April 2000

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

scientific article published in January 1994

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

scientific article published on 02 June 2008

A novel mutation in the SACS gene associated with a complicated form of spastic ataxia

scientific article published on 11 July 2008

Abnormal brain and muscle energy metabolism shown by 31P-MRS in familial hemiplegic migraine

scientific article published on 01 April 1995

Abnormal functional brain connectivity and personality traits in myotonic dystrophy type 1.

scientific article published in May 2014

Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes

scientific article published in June 2014

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

scientific article

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

scientific journal article

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

scientific article published on June 2010

Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies.

scientific article published in April 2001

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

scientific article published on 01 January 1993

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing

Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1.

scientific article published on 25 May 2016

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations

scientific article

Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1.

scientific article published in December 2004

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.

scientific article published on 23 January 2007

Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy

scientific article published on 01 January 2007

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

scientific article published on 09 August 2017

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

scientific article published on 01 August 2001

Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study.

scientific article published on 24 September 2008

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

scientific article published on 07 July 2020

Concentric muscle involvement in POLG -related distal myopathy

scientific article published on 07 March 2017

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

scientific article published on 27 July 2016

Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.

scientific article published on 25 October 2013

Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study

scientific article published on 5 November 2014

Dystrophin is not essential for the integrity of the cytoskeleton

scientific article published on 01 January 1994

Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF

scientific article published on 01 August 1994

Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors

scientific article published on 25 February 2016

Evidence of white matter involvement in SCA 7.

scientific article published on 19 September 2006

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients

scientific article published on 29 December 2017

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).

scientific article published on 18 September 2015

Fatal infantile liver failure associated with mitochondrial DNA depletion

scientific article published on December 1992

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

scientific article published on 18 June 2012

Functional involvement of central nervous system in mitochondrial disorders

scientific article published on 01 June 1997

GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy

scientific article published on 01 February 2000

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

article

Glycogen storage disease type II diagnosed in a 74-year-old woman

scientific article published on 01 June 2004

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56.

scientific article

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

scientific article published on 18 May 2010

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

scientific article

Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

scientific article published on 6 January 2016

Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A→G Mutation in KCNJ2

article

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

scientific article published in February 2011

MELAS point mutation with unusual clinical presentation

scientific article published on 01 May 1993

MELAS: clinical features, biochemistry, and molecular genetics

scientific article published on April 1, 1992

MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases

scientific article

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

scientific article published on 01 March 1993

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation)

scientific article published on 01 February 1997

Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy

scientific article published on 01 November 1997

Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

scientific article

Muscle MRI in female carriers of dystrophinopathy.

scientific article published on 15 May 2012

Muscle imaging findings in GNE myopathy.

scientific article published on 10 January 2012

Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2

scientific article published on 25 June 2020

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.

scientific article published on 19 December 2016

New phenotype and pathology features in MYH7-related distal myopathy

scientific article published on 20 April 2012

New wearable system for step-counting telemonitoring and telerehabilitation based on the Codivilla spring.

scientific article published in December 2008

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy

scientific article published on 01 June 2004

Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.

scientific article published in August 2012

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

scientific article published on 01 February 2011

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name

scientific article published on 01 June 1994

Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions

scientific article published on 01 April 2003

Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy

scientific article published on 14 July 2011

Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters.

scientific article published in January 2015

Prefrontal cortex controls human balance during overground ataxic gait

scientific article published in January 2012

Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2.

scientific article

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

scientific article published on 03 September 2018

Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients

scientific article published in February 2007

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.

scientific article published in August 2014

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.

scientific article published in January 2014

Risk of Arrhythmias in MYotonic Dystrophy: trial design of the RAMYD study

scientific article published on 01 January 2009

SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD).

scientific article published in March 2009

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

scientific article

Serial neuroimaging findings in a novel case of sporadic progressive ataxia and palatal tremor (PAPT).

scientific article

Severe 5,10-methylenetetrahydrofolate reductase deficiency: a rare, treatable cause of complicated hereditary spastic paraplegia.

scientific article published on 28 December 2017

Somatic mosaicism in TPM2-related myopathy with nemaline rods and cap structures

scientific article published on 27 September 2012

Spastic paraplegia with thin corpus callosum: description of 20 new families, refinement of the SPG11 locus, candidate gene analysis and evidence of genetic heterogeneity

scientific article published on 13 May 2006

Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.

scientific article published on 13 December 2008

Sporadic late-onset nemaline myopathy: clinical, pathology and imaging findings in a single center cohort.

scientific article published on 22 January 2018

Substrate reduction therapy with miglustat in chronic GM2 gangliosidosis type Sandhoff: results of a 3-year follow-up

scientific article published on 04 September 2010

Successful treatment of acute autoimmune limbic encephalitis with negative VGKC and NMDAR antibodies

scientific article published in March 2009

Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case.

scientific article

The complex phenotype of spinocerebellar ataxia type 48 in eight unrelated Italian families

scientific article published on 01 November 2019

Toward the integration of novel wearable step-counters in gait telerehabilitation after stroke.

scientific article published in January 2009

Transient MRI abnormalities in a case of occipital lobe epilepsy with favorable outcome.

scientific article published in July 2006

Widespread tissue distribution of a tRNALeu(UUR) mutation in the mitochondrial DNA of a patient with MELAS syndrome.

scientific article published in October 1991

fNIRS evaluation during a phonemic verbal task reveals prefrontal hypometabolism in patients affected by myotonic dystrophy type 1.

scientific article published on 17 June 2013

List of works by Gabriella Silvestri

"I Know that You Know that I Know": Neural Substrates Associated with Social Cognition Deficits in DM1 Patients

A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.

A channelopathy mutation in the voltage-sensor discloses contributions of a conserved phenylalanine to gating properties of Kv1.1 channels and ataxia

A late-onset mitochondrial myopathy is associated with a novel mitochondrial DNA (mtDNA) point mutation in the tRNA(Trp) gene.

A man with sarcoidosis and slurred speech

A new mtDNA mutation associated with a progressive encephalopathy and cytochrome c oxidase deficiency.

A new mtDNA mutation in the tRNA(Leu(UUR)) gene associated with maternally inherited cardiomyopathy.

A novel KIF5A/SPG10 mutation in spastic paraplegia associated with axonal neuropathy

A novel mutation in the SACS gene associated with a complicated form of spastic ataxia

Abnormal brain and muscle energy metabolism shown by 31P-MRS in familial hemiplegic migraine

Abnormal functional brain connectivity and personality traits in myotonic dystrophy type 1.

Alternative splicing alterations of Ca2+ handling genes are associated with Ca2+ signal dysregulation in myotonic dystrophy type 1 (DM1) and type 2 (DM2) myotubes

An Age-Standardized Prevalence Estimate and a Sex and Age Distribution of Myotonic Dystrophy Types 1 and 2 in the Rome Province, Italy

An Italian family with autosomal recessive inclusion-body myopathy and mutations in the GNE gene

Analysis of MTMR1 expression and correlation with muscle pathological features in juvenile/adult onset myotonic dystrophy type 1 (DM1) and in myotonic dystrophy type 2 (DM2).

Apoptosis and ROS detoxification enzymes correlate with cytochrome c oxidase deficiency in mitochondrial encephalomyopathies.

Atypical clinical presentations associated with the MELAS mutation at position 3243 of human mitochondrial DNA

Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay in the Time of Next-Generation Sequencing

Brain Connectomics' Modification to Clarify Motor and Nonmotor Features of Myotonic Dystrophy Type 1.

Cardiac features of Emery-Dreifuss muscular dystrophy caused by lamin A/C gene mutations

Characterization of the pattern of cognitive impairment in myotonic dystrophy type 1.

Chronic GM2 gangliosidosis type Sandhoff associated with a novel missense HEXB gene mutation causing a double pathogenic effect.

Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy

Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia

Coenzyme Q10 reverses pathological phenotype and reduces apoptosis in familial CoQ10 deficiency

Cognitive impairment in myotonic dystrophy type 1 (DM1): a longitudinal follow-up study.

Compound heterozygosity for an expanded (GAA) and a (GAAGGA) repeat at FXN locus: from a diagnostic pitfall to potential clues to the pathogenesis of Friedreich ataxia

Concentric muscle involvement in POLG -related distal myopathy

DJ-1 modulates mitochondrial response to oxidative stress: clues from a novel diagnosis of PARK7.

Do not jump to easy conclusions! Lessons from pitfall in the molecular diagnosis of ARSACS.

Dysplastic nevi, cutaneous melanoma, and other skin neoplasms in patients with myotonic dystrophy type 1: a cross-sectional study

Dystrophin is not essential for the integrity of the cytoskeleton

Ekbom's syndrome: lipomas, ataxia, and neuropathy with MERRF

Erratum to: Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors

Evidence of white matter involvement in SCA 7.

Expanded [CCTG]n repetitions are not associated with abnormal methylation at the CNBP locus in myotonic dystrophy type 2 (DM2) patients

Expansion size and presence of CCG/CTC/CGG sequence interruptions in the expanded CTG array are independently associated to hypermethylation at the DMPK locus in myotonic dystrophy type 1 (DM1).

Fatal infantile liver failure associated with mitochondrial DNA depletion

Frontotemporal dementia, Parkinsonism and lower motor neuron involvement in a patient with C9ORF72 expansion

Functional involvement of central nervous system in mitochondrial disorders

GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy

Gene expression profiling in the early phases of DMD: a constant molecular signature characterizes DMD muscle from early postnatal life throughout disease progression

Glycogen storage disease type II diagnosed in a 74-year-old woman

Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56.

Homozygosity for c 6325T>G transition in the ATM gene causes an atypical, late-onset variant form of ataxia-telangiectasia.

Homozygosity mapping of Marinesco-Sjögren syndrome to 5q31.

Increased risk of tumor in DM1 is not related to exposure to common lifestyle risk factors.

Lack of Any Cardiac Involvement in a Patient with Andersen-Tawil Syndrome Associated with the c.574A→G Mutation in KCNJ2

Low-rate repetitive nerve stimulation protocol in an Italian cohort of patients affected by recessive myotonia congenita

MELAS point mutation with unusual clinical presentation

MELAS: clinical features, biochemistry, and molecular genetics

MRI neurography findings in patients with idiopathic brachial plexopathy: correlations with clinical-neurophysiological data in eight consecutive cases

Manifesting heterozygotes in McArdle's disease: clinical, morphological and biochemical studies in a family

Maternally inherited cardiomyopathy: a new phenotype associated with the A to G AT nt.3243 of mitochondrial DNA (MELAS mutation)

Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy

Molecular, clinical, and muscle studies in myotonic dystrophy type 1 (DM1) associated with novel variant CCG expansions.

Muscle MRI in female carriers of dystrophinopathy.

Muscle imaging findings in GNE myopathy.

Myotonic dystrophy type 1 cosegregating with autosomal dominant polycystic kidney disease type 2

Myotonic dystrophy type 1: role of CCG, CTC and CGG interruptions within DMPK alleles in the pathogenesis and molecular diagnosis.

New phenotype and pathology features in MYH7-related distal myopathy

New wearable system for step-counting telemonitoring and telerehabilitation based on the Codivilla spring.

Novel GNE mutations in Italian families with autosomal recessive hereditary inclusion-body myopathy

Novel SACS mutations in two unrelated Italian patients with spastic ataxia: clinico-diagnostic characterization and results of serial brain MRI studies.

Novel mutations in SPG11 cause hereditary spastic paraplegia associated with early-onset levodopa-responsive Parkinsonism

Ophthalmoplegia, demyelinating neuropathy, leukoencephalopathy, myopathy, and gastrointestinal dysfunction with multiple deletions of mitochondrial DNA: a mitochondrial multisystem disorder in search of a name

Pathogenic role of mtDNA duplications in mitochondrial diseases associated with mtDNA deletions

Positive outcome in a patient with Wilson's disease treated with reduced zinc dosage in pregnancy

Prefrontal cortex as a compensatory network in ataxic gait: a correlation study between cortical activity and gait parameters.

Prefrontal cortex controls human balance during overground ataxic gait

Prevalence and clinical correlates of sleep disordered breathing in myotonic dystrophy types 1 and 2.

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

Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.

Restless legs syndrome and daytime sleepiness are prominent in myotonic dystrophy type 2.

Risk of Arrhythmias in MYotonic Dystrophy: trial design of the RAMYD study

SIADH in a patient with sensory ataxic neuropathy with anti-disialosyl antibodies (CANOMAD).

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Serial neuroimaging findings in a novel case of sporadic progressive ataxia and palatal tremor (PAPT).