G. Silvestri

A. Gasbarrini, G. Silvestri, M. Zocco, 2021, Digestive and liver disease : official journal of the Italian Society of Gastroenterology and the Italian Association for the Study of the Liver.

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

S. Boccia, E. Leoncini, S. Gadalla, 2016, Journal of Neurology.

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

V. Di Lazzaro, M. Lo Monaco, F. Capone, 2013, Internal medicine.

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

G. Silvestri, L. Macchioni, G. Hunter, 2017, Scientific Reports.

Muscle MRI in female carriers of dystrophinopathy

E. Ricci, S. Servidei, M. Mirabella, 2012, European journal of neurology.

Functional involvement of central nervous system in mitochondrial disorders.

Massimiliano Valeriani, D. Restuccia, V. Di Lazzaro, 1997, Electroencephalography and clinical neurophysiology.

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

C. Piantadosi, G. Novelli, C. Casali, 2016, Neuroepidemiology.

Nuclear Factor Erythroid 2-Related Factor 2 Activation Might Mitigate Clinical Symptoms in Friedreich’s Ataxia: Clues of an “Out-Brain Origin” of the Disease From a Family Study

E. Bertini, S. Petrillo, G. Silvestri, 2021, Frontiers in Neuroscience.

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

S. Petrillo, G. Silvestri, P. Chiurazzi, 2020, neurogenetics.

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

G. Della Marca, G. Silvestri, A. Losurdo, 2014, Neurology.

Prevalence of spinocerebellar ataxia type 2 mutation among Italian Parkinsonian patients

A. Bentivoglio, M. Contarino, P. Tonali, 2007, Movement disorders : official journal of the Movement Disorder Society.

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

A. Bentivoglio, A. Tessa, F. Santorelli, 2011, Movement disorders : official journal of the Movement Disorder Society.

Apoptosis and ROS Detoxification Enzymes Correlate with Cytochrome c Oxidase Deficiency in Mitochondrial Encephalomyopathies

S. Giovanni, M. Papacci, S. Servidei, 2001, Molecular and Cellular Neuroscience.

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

G. de Martino, A. Dello Russo, E. Ricci, 2003, European heart journal.

Analysis of Single Nucleotide Polymorphisms (SNPs) of the small-conductance calcium activated potassium channel (SK3) gene as genetic modifier of the cardiac phenotype in myotonic dystrophy type 1 patients.

G. Novelli, G. Silvestri, L. Politano, 2008, Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology.

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

P. Tonali, F. Capone, H. Willison, 2009, Journal of Neurology.

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

E. Bertini, M. Tosetti, G. Cioni, 2009, Human mutation.

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

A. Brice, G. Stevanin, A. Federico, 2009, Journal of the Neurological Sciences.

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

G. Novelli, G. Silvestri, R. Massa, 2018, Biochimica et biophysica acta. Molecular basis of disease.

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

P. Rossini, P. Caliandro, L. Padua, 2013, Clinical Neurophysiology.

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

E. Bertini, M. Tosetti, A. Durr, 2006, Neurogenetics.

Subdural hematoma in a young woman with an “old” brain

M. Masciullo, G. Silvestri, P. De Bonis, 2012, Acta Neurologica Belgica.

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

M. Masciullo, G. Silvestri, S. De Carolis, 2011, European journal of obstetrics, gynecology, and reproductive biology.

GCG genetic expansions in Italian patients with oculopharyngeal muscular dystrophy

S. Di Giovanni, P. Tonali, S. Servidei, 2000, Neurology.

Prevalence and predictor factors of respiratory impairment in a large cohort of patients with Myotonic Dystrophy type 1 (DM1): A retrospective, cross sectional study

G. Della Marca, G. Silvestri, E. Rastelli, 2019, Journal of the Neurological Sciences.

Dysautonomia as Onset Symptom of Myotonic Dystrophy Type 2

G. Silvestri, M. Monforte, M. Luigetti, 2018, European Neurology.

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

E. Bertini, P. Tonali, E. Ricci, 1993, Journal of the Neurological Sciences.

Myotonic dystrophy type 1 and de novo FSHD mutation double trouble: A clinical and muscle MRI study

G. Tasca, M. Masciullo, G. Silvestri, 2013, Neuromuscular Disorders.

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

A. Federico, A. Filla, A. Tessa, 2008, Journal of Neurology.

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

E. Ricci, M. Masciullo, G. Silvestri, 2018, European journal of neurology.

Chronic autoimmune autonomic neuropathy responsive to immunosuppressive therapy

P. Tonali, M. Mirabella, G. Lanza, 2007, Neurology.

Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE)

S. Dimauro, L. Salberg, R. Lovelace, 2016 .

Muscle regeneration in mdx mice: Resistance to repeated necrosis is compatible with myofiber maturity

G. Bernardi, G. Sancesario, G. Silvestri, 1997 .

Clinical use of bioelectrical impedance analysis in patients affected by myotonic dystrophy type 1: A cross-sectional study.

P. Rossini, A. Gasbarrini, E. Rinninella, 2019, Nutrition.

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

G. Silvestri, A. Modoni, M. Bianchi, 2012, Cardiology.

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

G. De Michele, A. Filla, A. Tessa, 2018, European journal of neurology.

High Prevalence and Gender-Related Differences of Gastrointestinal Manifestations in a Cohort of DM1 Patients: A Perspective, Cross-Sectional Study

G. Silvestri, M. Zocco, A. Petrucci, 2020, Frontiers in Neurology.

MELAS point mutation with unusual clinical presentation

G. Silvestri, A. Shanske, K. Tanji, 1993, Neuromuscular Disorders.

POLR3A variants in hereditary spastic paraparesis and ataxia: clinical, genetic, and neuroradiological findings in a cohort of Italian patients

A. Federico, A. Filla, A. Gallo, 2021, Neurological Sciences.

Muscle imaging findings in GNE myopathy

E. Ricci, A. Broccolini, M. Mirabella, 2012, Journal of Neurology.

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

S. Dimauro, E. Schon, E. Ricci, 1991, Neurology.

Fatal infantile liver failure associated with mitochondrial DNA depletion.

E. Bertini, E. Ricci, S. Servidei, 1992, The Journal of pediatrics.

MELAS: Clinical features, biochemistry, and molecular genetics

S. Dimauro, E. Schon, A. Martinuzzi, 1992, Annals of neurology.

Mitochondrial DNA deletions in oculopharyngeal muscular dystrophy

G. Silvestri, A. Lezza, M. Gadaleta, 1997, FEBS letters.

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

E. Ricci, S. Servidei, M. Mirabella, 2018, Journal of Neurology.

Musician’s Dystonia and Comorbid Anxiety: Two Sides of One Coin?

A. Bentivoglio, A. Tessa, F. Santorelli, 2011 .

NGS in Hereditary Ataxia: When Rare Becomes Frequent

G. Tedeschi, G. De Michele, A. Filla, 2021, International journal of molecular sciences.

Apoptosis and Oxidative Stress in Mitochondrial Disorders

A. D’Amico, S. Giovanni, A. Broccolini, 2002 .

Apoptosis in mitochondrial encephalomyopathies with mitochondrial DNA mutations: a potential pathogenic mechanism.

S. Di Giovanni, P. Tonali, S. Giovanni, 2000, Brain : a journal of neurology.

Low-Rate Repetitive Nerve Stimulation Protocol in an Italian Cohort of Patients Affected by Recessive Myotonia Congenita

M. Lo Monaco, A. D’Amico, E. Valente, 2011, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

Cognitive impairment in myotonic dystrophy type 1 (DM1)

C. Marra, P. Tonali, D. Quaranta, 2008, Journal of Neurology.

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

C. Marra, P. Tonali, G. Silvestri, 2004, Archives of neurology.

Clinical features associated with the A → G transition at nucleotide 8344 of mtDNA (“MERRF mutation”)

S. Dimauro, F. Santorelli, S. Servidei, 1993, Neurology.

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

P. Tonali, E. Ricci, S. Servidei, 1994, Muscle & nerve.

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA

E. Bertini, M. Zeviani, P. Tonali, 1991, Neurology.

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

C. Caltagirone, M. Bozzali, M. Cercignani, 2016, Neural plasticity.

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

C. Caltagirone, M. Bozzali, N. Harrison, 2014, JAMA neurology.

A new mtDNA mutation in the tRNA(Lys) gene associated with myoclonic epilepsy and ragged-red fibers (MERRF).

S. Dimauro, G. Silvestri, S. Oh, 1992, American journal of human genetics.

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

G. Della Marca, M. Masciullo, G. Silvestri, 2014, Sleep and Breathing.

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

A. Bewley, D. Linder, M. Masciullo, 2015, Journal of the American Academy of Dermatology.

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

Claudio Bruno, Vincenzo Giglio, Enrico Bertini, 2007, FASEB journal : official publication of the Federation of American Societies for Experimental Biology.

Progress in the molecular diagnosis of facioscapulohumeral muscular dystrophy and correlation between the number of KpnI repeats at the 4q35 locus and clinical phenotype

F. Mangiola, P. Tonali, V. Pasceri, 1999, Annals of neurology.

A new mtDNA mutation in the tRNALeu(UUR) gene associated with maternally inherited cardiomyopathy

S. Dimauro, F. Santorelli, G. Silvestri, 1994, Human mutation.

Dysregulation of Circular RNAs in Myotonic Dystrophy Type 1

I. Bozzoni, G. Meola, I. Legnini, 2018, bioRxiv.

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

P. Tonali, E. Ricci, J. Guitton, 2010, Journal of Inherited Metabolic Disease.

Response to “Autosomal recessive axonal neuropathy caused by HINT1 mutation: New association of a psychiatric disorder to the neurological phenotype”

E. Bertini, G. Silvestri, A. Perna, 2020, Neuromuscular Disorders.

Episodic ataxia and severe infantile phenotype in spinocerebellar ataxia type 14: expansion of the phenotype and novel mutations

G. De Michele, A. Filla, A. Tessa, 2021, Journal of Neurology.

Resveratrol corrects aberrant splicing of RYR1 pre-mRNA and Ca2+ signal in myotonic dystrophy type 1 myotubes

G. Silvestri, A. Severino, A. Perna, 2020, Neural regeneration research.

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

E. Ricci, M. Masciullo, G. Silvestri, 2014, Neuropathology and applied neurobiology.

Dystrophin is not essential for the integrity of the cytoskeleton

G. Bernardi, G. Sancesario, G. Silvestri, 1994, Acta Neuropathologica.

Secondary hypokalemic periodic paralysis as a rare clinical presentation of Conn syndrome

G. Silvestri, A. Modoni, T. Nicoletti, 2018, Clinical Neurophysiology.

Homozygosity mapping of Marinesco–Sjögren syndrome to 5q31

M. Koenig, M. Gribaa, H. Dollfus, 2003, European Journal of Human Genetics.

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

E. Bertini, A. Bentivoglio, R. Carrozzo, 2017, Clinical genetics.

Lesion distribution and substrate of white matter damage in myotonic dystrophy type 1: Comparison with multiple sclerosis

M. Bozzali, M. Cercignani, G. Meola, 2021, NeuroImage: Clinical.

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

A. Tessa, F. Santorelli, M. Masciullo, 2015, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

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

P. Tonali, S. Servidei, G. Silvestri, 2000, Neurology.

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

S. Di Giovanni, P. Tonali, A. Broccolini, 2001, Neurology.

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

M. Papacci, G. Tasca, G. Silvestri, 2010, Clinical Neurology and Neurosurgery.

Concentric muscle involvement in POLG-related distal myopathy

F. Santorelli, E. Ricci, G. Tasca, 2017, Neuromuscular Disorders.

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

S. Dimauro, E. Schon, G. Silvestri, 1993, Neuromuscular Disorders.

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

P. Tonali, E. Ricci, G. Silvestri, 2007, Molecular genetics and metabolism.

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

S. Servidei, G. Silvestri, A. Uncini, 1998, Neuromuscular Disorders.

Autosomal recessive spastic ataxia of Charlevoix-Saguenay in the time of next-generation sequencing.

F. Santorelli, M. Masciullo, G. Silvestri, 2012, Archives of neurology.

A novel nonsense EIF1AX mutation identified in a thyroid nodule histologically diagnosed as oncocytic carcinoma

S. Filetti, C. Lombardi, E. Rossi, 2018, Endocrine.

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

P. Tonali, F. Santorelli, M. Masciullo, 2008, Journal of Neurology.

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

F. Zara, P. Tonali, C. Bruno, 2004, Human mutation.

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

E. Bertini, E. Mercuri, E. Ricci, 2012, Acta Neuropathologica.

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

G. De Michele, A. Filla, A. Tessa, 2020, European journal of neurology.

A next generation sequencing‐based analysis of a large cohort of ataxic patients refines the clinical spectrum associated with spinocerebellar ataxia 21

A. Tessa, F. Santorelli, C. Casali, 2021, European journal of neurology.

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

C. Caltagirone, M. Bozzali, M. Cercignani, 2016, PloS one.

An Italian Neurology Outpatient Clinic Facing SARS-CoV-2 Pandemic: Data From 2,167 Patients

P. Calabresi, A. Bentivoglio, C. Marra, 2020, Frontiers in Neurology.

A unique case of multiphasic ADEM or what else?

M. Mirabella, G. Silvestri, V. Nociti, 2019, Multiple sclerosis and related disorders.

Morphological observations in mitochondrial diseases

P. Tonali, E. Ricci, A. Broccolini, 1995 .

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

E. Ricci, S. Servidei, G. Silvestri, 1997, Muscle & nerve.

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

P. Tonali, A. D’Amico, E. Ricci, 2002, Neurology.

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

A. Romigi, G. Silvestri, E. K. St, 2014 .

Successful Treatment of Acute Autoimmune Limbic Encephalitis With Negative VGKC and NMDAR Antibodies

C. Marra, P. Tonali, M. Masciullo, 2009, Cognitive and behavioral neurology : official journal of the Society for Behavioral and Cognitive Neurology.

Clinical features and outcome of patients with autoimmune cerebellar ataxia evaluated with the Scale for the Assessment and Rating of Ataxia

P. Calabresi, G. Silvestri, Gianvito Masi, 2021, European journal of neurology.

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

P. Tonali, A. D’Amico, A. Broccolini, 2003, American journal of medical genetics. Part A.

Translational control of polyamine metabolism by CNBP is required for Drosophila locomotor function

A. Fatica, G. Canettieri, G. Silvestri, 2021, bioRxiv.

Ventral tegmental area dysfunction affects decision-making in patients with myotonic dystrophy type-1

C. Caltagirone, M. Bozzali, M. Cercignani, 2020, Cortex.

Reply to the letter entitled “Predictors of respiratory impairment in patients with myotonic dystrophy type 1”

G. Della Marca, G. Silvestri, E. Rastelli, 2019, Journal of the Neurological Sciences.

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

A. Tessa, M. Masciullo, G. Silvestri, 2012, European journal of neurology.

Alternative splicing of human insulin receptor gene (INSR) in type I and type II skeletal muscle fibers of patients with myotonic dystrophy type 1 and type 2

F. Michetti, M. Masciullo, G. Silvestri, 2013, Molecular and Cellular Biochemistry.

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).

G. Novelli, E. Leoncini, M. Masciullo, 2015, Biochimica et biophysica acta.

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

G. Neri, G. Tasca, M. Masciullo, 2013, Journal of Neurology.

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

A. Tessa, M. Masciullo, G. Silvestri, 2014, Clinical genetics.

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

G. Silvestri, M. Calcagni, A. Modoni, 2017, Journal of Neurological Sciences.

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

P. Tonali, E. Ricci, S. Servidei, 1997, Muscle & nerve.

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

G. Silvestri, L. Macchioni, G. Hunter, 2017, Scientific Reports.

Teaching NeuroImages: Autosomal dominant leukodystrophy in a sporadic case

G. Silvestri, V. Brunetti, V. Nociti, 2014, Neurology.

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

L. Chessa, M. Masciullo, G. Silvestri, 2010, Journal of Neurology.

Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE)

L. Salberg, R. Lovelace, H. Mitsumoto, 1994, Neurology.

Unusual case of long survival patient with leptomeningeal carcinomatosis from breast cancer

G. Pennisi, G. Silvestri, N. Montano, 2021, British journal of neurosurgery.