P. Balestri

发表

Celiac disease with cerebral calcium and silica deposits

T. Megha, P. Toti, P. Balestri, 1996, Neurology.

Oxidative stress in children affected by epileptic encephalopathies

G. Buonocore, M. Longini, B. Piccini, 2011, Journal of the Neurological Sciences.

Lacosamide in children with refractory status epilepticus. A multicenter Italian experience.

P. Balestri, S. Grosso, N. Zamponi, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Biotinidase deficiency: metabolites in CSF

P. Balestri, A. Fois, C. Bachmann, 1986, Journal of Inherited Metabolic Disease.

Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study

N. De Stefano, A. Federico, M. Dotti, 2001, Journal of Neurology.

Quantification of psychosine in the serum of twitcher mouse by LC-ESI-tandem-MS analysis.

E. Dreassi, E. Costantino-Ceccarini, L. Governini, 2013, Journal of pharmaceutical and biomedical analysis.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

A. Hoischen, B. D. de Vries, L. S. Lucas, 2013, Orphanet Journal of Rare Diseases.

A comparative study of hydrocortisone versus deflazacort in drug-resistant epilepsy of childhood

P. Balestri, S. Grosso, D. Cordelli, 2008, Epilepsy Research.

Human erythrocyte hexokinase deficiency: a new variant with abnormal kinetic properties

M. Dachá, D. Giorgi, M. Magnani, 1985, British journal of haematology.

Facial hemangioma and malformation of the cortical development: A broadening of the PHACE spectrum or a new entity?

G. Morgese, P. Balestri, P. Galluzzi, 2004, American journal of medical genetics. Part A.

An unbalanced submicroscopic translocation t(8;16)(q24.3;p13.3)pat associated with tuberous sclerosis complex, adult polycystic kidney disease, and hypomelanosis of Ito

S. Verhoef, A. V. D. van den Ouweland, D. Halley, 2000, Journal of medical genetics.

Plasmapheresis in a child affected by acute disseminated encephalomyelitis

A. Acquaviva, P. Balestri, M. Bernini, 2000, Brain and Development.

Relationship between café-au-lait spots as the only symptom and peripheral neurofibromatosis (NF1): A follow-up study

P. Balestri, A. Fois, G. Bartalini, 1993, European Journal of Pediatrics.

Diagnosis of neurofibromatosis type 1 using RFLPs tightly linked to gene

P. Balestri, A. Fois, R. Vivarelli, 1993, Child's Nervous System.

Levetiracetam monotherapy for children and adolescents with benign rolandic seizures

F. Chiarelli, A. Verrotti, P. Iannetti, 2007, Seizure.

Seizures and electroencephalographic findings in CDKL5 mutations: Case report and review

A. Renieri, G. Morgese, P. Balestri, 2007, Brain and Development.

Case report Seizures and electroencephalographic findings in CDKL5 mutations: Case report and review

A. Renieri, G. Morgese, P. Balestri, 2007 .

Malformations of cortical development in neurofibromatosis type 1

G. Morgese, P. Balestri, P. Galluzzi, 2003, Neurology.

Recurrent Torticollis Caused by Dissecting Vertebral Artery Aneurysm in a Pediatric Patient: Results of Endovascular Treatment by Use of Coil Embolization: Case Report

A. Casasco, P. Balestri, C. Venturi, 2002, Neurosurgery.

A novel homozygous ISPD gene mutation causing phenotype variability in a consanguineous family

A. Malandrini, L. Chiapparini, C. Pantaleoni, 2015, Neuromuscular Disorders.

HLA-DQ typing in the diagnostic algorithm of celiac disease.

C. Vindigni, A. Luddi, V. Villanacci, 2012, Revista espanola de enfermedades digestivas : organo oficial de la Sociedad Espanola de Patologia Digestiva.

VARS2 and TARS2 Mutations in Patients with Mitochondrial Encephalomyopathies

M. Minczuk, T. Meitinger, T. Strom, 2014, Human mutation.

Efficacy and safety of levetiracetam in infants and young children with refractory epilepsy

A. Verrotti, G. Morgese, P. Balestri, 2007, Seizure.

Efficacy and safety of levetiracetam: An add-on trial in children with refractory epilepsy

A. Verrotti, G. Morgese, A. Spalice, 2005, Seizure.

Efficacy and tolerability of add‐on lacosamide in children with Lennox‐Gastaut syndrome

P. Parisi, A. Verrotti, A. Spalice, 2014, Acta neurologica Scandinavica.

Efficacy and safety of felbamate in children under 4 years of age: a retrospective chart review

A. Verrotti, P. Balestri, S. Grosso, 2008, European journal of neurology.

Chromosome 18 aberrations and epilepsy: A review

G. Morgese, G. Gobbi, P. Balestri, 2005, American journal of medical genetics. Part A.

Efficacy and safety of topiramate in infants according to epilepsy syndromes

D. Galimberti, G. Morgese, P. Balestri, 2005, Seizure.

Electroencephalographic and Epileptic Patterns in X Chromosome Anomalies

D. Galimberti, G. Morgese, P. Balestri, 2004, Journal of clinical neurophysiology : official publication of the American Electroencephalographic Society.

Mutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype–phenotype relationships

A. Sarasin, A. Lehmann, J. Offman, 2007, Human mutation.

Intractable Epilepsy: Etiology, Risk Factors and Treatment

P. Balestri, M. Vascotto, A. Fois, 1988, Clinical EEG.

Mutational analysis of the SCN1A, SCN1B and GABRG2 genes in 150 Italian patients with idiopathic childhood epilepsies

P. Balestri, V. Sorrentino, S. Buoni, 2009, Clinical genetics.

2q24-q31 deletion: report of a case and review of the literature.

S. Gimelli, O. Zuffardi, A. Renieri, 2007, European journal of medical genetics.

Loss-of-function mutation of the AF9/MLLT3 gene in a girl with neuromotor development delay, cerebellar ataxia, and epilepsy

M. Rocchi, L. Chessa, R. Giorda, 2005, Human Genetics.

Circulating Levels of Allopregnanolone, a Neuroactive Steroid, and Leptin during Treatment with Valproic Acid in Children with Epilepsy

F. Petraglia, P. Balestri, S. Luisi, 2010, Neuroendocrinology.

CDKL5 belongs to the same molecular pathway of MeCP2 and it is responsible for the early-onset seizure variant of Rett syndrome.

N. Landsberger, V. Broccoli, A. Renieri, 2005, Human molecular genetics.

Recurrent Miller Fisher syndrome in children.

F. Giannini, A. Verrotti, P. Balestri, 2014, Pediatric neurology.

Serum levels of chitotriosidase as a marker of disease activity and clinical stage in sarcoidosis

D. Galimberti, E. Bargagli, P. Rottoli, 2004, Scandinavian journal of clinical and laboratory investigation.

A 3 Mb deletion in 14q12 causes severe mental retardation, mild facial dysmorphisms and Rett‐like features

A. Renieri, F. Mari, P. Balestri, 2008, American journal of medical genetics. Part A.

Inter-ictal and post-ictal circulating levels of allopregnanolone, an anticonvulsant metabolite of progesterone, in epileptic children

F. Petraglia, L. Cobellis, G. Morgese, 2003, Epilepsy Research.

Isoprostanes in dystrophinopathy: Evidence of increased oxidative stress

G. Buonocore, D. Gazzolo, M. Longini, 2008, Brain and Development.

Coffin–Siris and Nicolaides–Baraitser syndromes are a common well recognizable cause of intellectual disability

J. Vermeesch, P. Rubegni, M. Fimiani, 2015, Brain and Development.

Dexfenfluramine effective in drug-resistant temporal lobe epilepsy

G. Morgese, P. Balestri, M. Farnetani, 2001, Neurology.

Medial temporal lobe dysgenesis in Muenke syndrome and hypochondroplasia

G. Morgese, P. Balestri, P. Galluzzi, 2003, American journal of medical genetics. Part A.

Brain mitochondrial impairment in ethylmalonic encephalopathy

A. Federico, N. Stefano, P. Balestri, 2004, Journal of Neurology.

The phenotype of floating-harbor syndrome

A. Hoischen, L. S. Lucas, J. Allanson, 2016 .

Spermatogenesis in a man with complete deletion of USP9Y.

V. de Leo, P. Piomboni, A. Luddi, 2009, The New England journal of medicine.

L-2 Hydroxyglutaric Aciduria: Magnetization Transfer Contrast and Diffusion Weighted Magnetic Resonance Imaging Findings

P. Balestri, P. Galluzzi, C. Venturi, 2010, The neuroradiology journal.

INTERRUPTER RESISTANCE IN PRESCHOOL CHILDREN: CLINICAL UTILITY IN ASTHMA MANAGEMENT

P. Balestri, M. Vascotto, F. Coccina, 2012 .

Epilepsy and vaccinations: Italian guidelines

G. Capovilla, A. Verrotti, A. Romeo, 2013, Epilepsia.

Post-ictal circulating levels of allopregnanolone in children with partial or generalized seizures

F. Petraglia, G. Morgese, P. Balestri, 2005, Epilepsy Research.

Familial Axenfeld-Rieger anomaly, cardiac malformations, and sensorineural hearing loss: a provisionally unique genetic syndrome?

G. Morgese, P. Balestri, M. Farnetani, 2002, American journal of medical genetics.

Trichothiodystrophy without photosensitivity

S. Giustini, S. Calvieri, M. Stefanini, 1988, European Journal of Pediatrics.

SCN1A MUTATION ASSOCIATED WITH ATYPICAL PANAYIOTOPOULOS SYNDROME

P. Balestri, V. Sorrentino, S. Grosso, 2007, Neurology.

Multiple Neuroendocrine Disorder in Salla Disease

G. Morgese, P. Balestri, M. Farnetani, 2001, Journal of child neurology.

Pubertal disorders in inv dup(15) syndrome

G. Morgese, P. Balestri, S. Grosso, 2001, Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology.

Endocrine Disorders in Two Sisters Affected by MELAS Syndrome

P. Balestri, S. Grosso, 2000, Journal of child neurology.

Precocious puberty with trisomy X syndrome.

P. Balestri, S. Grosso, R. Berardi, 1999, Obstetrics and gynecology.

Zonisamide in children and young adults with refractory epilepsy: An open label, multicenter Italian study

P. Curatolo, P. Parisi, A. Verrotti, 2009, Epilepsy Research.

Epilepsy in Neurofibromatosis 1

G. Morgese, P. Balestri, M. Farnetani, 2003, Journal of child neurology.

Efficacy and Safety of Topiramate in Refractory Epilepsy of Childhood

P. Parisi, A. Verrotti, G. Morgese, 2005, Journal of child neurology.

Topiramate effects on plasma serotonin levels in children with epilepsy

M. Battaglini, P. Balestri, S. Grosso, 2008, Epilepsy Research.

Epilepsy and electroencephalographic anomalies in chromosome 2 aberrations A review

A. Renieri, P. Curatolo, P. Balestri, 2008, Epilepsy Research.

Overlapping microdeletions involving 15q22.2 narrow the critical region for intellectual disability to NARG2 and RORA.

C. Ruivenkamp, Kayoko Saito, M. Breuning, 2014, European journal of medical genetics.

Private inherited microdeletion/microduplications: implications in clinical practice.

A. Renieri, R. Canitano, F. Mari, 2008, European journal of medical genetics.

Ethylmalonic encephalopathy is caused by mutations in ETHE1, a gene encoding a mitochondrial matrix protein.

Paolo Gasparini, Brigitte Vollmer, Massimo Zeviani, 2004, American journal of human genetics.

Central precocious puberty and abnormal chromosomal patterns

G. Morgese, P. Balestri, S. Grosso, 2000, Endocrine pathology.

Quantitative ultrasound and dual-energy x-ray absorptiometry in children and adolescents with neurofibromatosis of type 1.

R. Nuti, S. Gonnelli, P. Balestri, 2010, Journal of clinical densitometry : the official journal of the International Society for Clinical Densitometry.

Benign convulsions associated with mild gastroenteritis: A multicenter clinical study

S. Savasta, P. Veggiotti, F. Chiarelli, 2011, Epilepsy Research.

Craniofacial dyssynostosis: Case report and review

G. Morgese, P. Balestri, S. Grosso, 2004, American journal of medical genetics. Part A.

Long-term follow-up in children with benign convulsions associated with gastroenteritis.

S. Savasta, P. Veggiotti, F. Chiarelli, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Oxcarbazepine and atypical evolution of benign idiopathic focal epilepsy of childhood

P. Curatolo, P. Balestri, S. Grosso, 2006, European journal of neurology.

Pseudo-TORCH syndrome or Baraitser–Reardon syndrome: diagnostic criteria

G. Morgese, P. Balestri, P. Galluzzi, 2001, Brain and Development.

Neurofibromatosis type 2 attributable to gonosomal mosaicism in a clinically normal mother, and identification of seven novel mutations in the NF2 gene

R. Sestini, P. Balestri, L. Papi, 2000, Human Genetics.

De novo complete trisomy 5p: clinical and neuroradiological findings.

G. Morgese, P. Balestri, P. Galluzzi, 2002, American journal of medical genetics.

Nucleotide variation in Sabin type 2 poliovirus from an immunodeficient patient with poliomyelitis.

A. Plebani, L. Fiore, Javier Martin, 2003, The Journal of general virology.

Central nervous system imaging in reevaluation of patients with neurofibromatosis type 1

P. Balestri, A. Fois, G. Bartalini, 1993, Child's Nervous System.

A 9.3 Mb microdeletion of 3q27.3q29 associated with psychomotor and growth delay, tricuspid valve dysplasia and bifid thumb.

A. Renieri, F. Mari, P. Balestri, 2009, European journal of medical genetics.

Free sialic acid storage disease

P. Borgogni, P. Balestri, M. Farnetani, 1987, European Journal of Pediatrics.

Alternating hemiplegia of childhood or Hashimoto’s encephalopathy?

P. Balestri, S. Grosso, G. Garibaldi, 1999, Journal of neurology, neurosurgery, and psychiatry.

Giant axonal neuropathy. Endocrinological and histological studies

S. Calvieri, P. Balestri, M. Farnetani, 1985, European Journal of Pediatrics.

Association of Chiari I Malformation, Mental Retardation, Speech Delay, and Epilepsy: A Specific Disorder?

G. Morgese, P. Balestri, S. Grosso, 2001, Neurosurgery.

LBSL (leukoencephalopathy with brain stem and spinal cord involvement and high lactate) without sparing of the u-fibers and globi pallidi: A case report

M. Zeviani, E. Lamantea, P. Balestri, 2011 .

MR brain imaging of fucosidosis type I.

A. Federico, P. Balestri, P. Galluzzi, 2001, AJNR. American journal of neuroradiology.

Typical absence seizures associated with localization-related epilepsy: A clinical and electroencephalographic characterization

D. Galimberti, G. Morgese, G. Gobbi, 2005, Epilepsy Research.

Schinzel–Giedion syndrome: a further cause of West syndrome

G. Morgese, P. Balestri, R. Bartolo, 2003, Brain and Development.

Efficacy and safety of rufinamide in children under four years of age with drug-resistant epilepsies.

P. Parisi, A. Verrotti, G. Gobbi, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Progressive cerebral calcifications, epilepsy, and celiac disease

C. Vindigni, P. Balestri, M. Farnetani, 1993, Brain and Development.

Infantile spasms-long term results of ACTH treatment

D. Giorgi, P. Balestri, A. Fois, 1984, European Journal of Pediatrics.

3.2 Mb microdeletion in chromosome 7 bands q22.2-q22.3 associated with overgrowth and delayed bone age.

A. Renieri, M. Mucciolo, F. Mari, 2010, European journal of medical genetics.

Clinical features of psychogenic non-epileptic seizures in prepubertal and pubertal patients with idiopathic epilepsy

P. Curatolo, F. Chiarelli, A. Mohn, 2009, Neurological Sciences.

Efficacy and tolerability of add‐on Lacosamide in children with Lennox–Gastaut syndrome

P. Balestri, S. Grosso, 2014, Acta neurologica Scandinavica.

Linear scleroderma associated with progressive brain atrophy

A. Fioravanti, G. Morgese, P. Balestri, 2003, Brain and Development.

Non-progressive leukoencephalopathy with bilateral anterior temporal cysts: a case report and review of the literature

D. Galimberti, N. Stefano, G. Morgese, 2005, Brain and Development.

Epilepsy and Electroencephalographic Findings in Pericentric Inversion of Chromosome 12

D. Galimberti, G. Morgese, P. Balestri, 2004, Journal of child neurology.

Bathing epilepsy: report of two Caucasian cases

P. Balestri, S. Grosso, V. Gentile, 2010, Epileptic disorders : international epilepsy journal with videotape.

Hot water epilepsy and focal malformation of the parietal cortex development

S. Francione, G. Morgese, P. Balestri, 2004, Brain and Development.

Epilepsy, speech delay, and mental retardation in facioscapulohumeral muscular dystrophy.

A. Verrotti, P. Balestri, S. Grosso, 2011, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Response of uv c 254 nanometers radiation sensitive human mutants to radiation at defined uv a 334 nanometers 365 nanometers and visible 405 nanometers wavelengths

M. Stefanini, P. Balestri, A. Fois, 1986 .

Childhood Absence Epilepsy: Evolution and Prognostic Factors

Paolo Balestri, Daniela Galimberti, D. Galimberti, 2005, Epilepsia.

Ethylmalonic encephalopathy

G. Morgese, C. Dionisi-Vici, P. Balestri, 2002, Journal of Neurology.

Late-onset childhood occipital epilepsy (Gastaut type): a family study.

G. Gobbi, P. Balestri, S. Grosso, 2008, European journal of paediatric neurology.

Efficacy and safety of lacosamide in infants and young children with refractory focal epilepsy.

P. Parisi, A. Verrotti, A. Spalice, 2014, European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society.

Levetiracetam monotherapy for childhood occipital epilepsy of gastaut

P. Curatolo, F. Chiarelli, A. Mohn, 2009, Acta neurologica Scandinavica.

Intractable reflex audiogenic seizures in Aicardi syndrome

G. Morgese, P. Balestri, M. Farnetani, 2007, Brain and Development.

Case report Intractable reflex audiogenic seizures in Aicardi syndrome

G. Morgese, P. Balestri, S. Grosso, 2007 .

Aicardi syndrome with favorable outcome: Case report and review

G. Morgese, P. Balestri, P. Galluzzi, 2007, Brain and Development.

Evaluation of lysosomal enzymes in uncultured and cultured chorionic villi and amniocytes

P. Balestri, A. Fois, M. Margollicci, 1988, Journal of Inherited Metabolic Disease.

Photoparoxysmal responses in children with chromosomal aberrations

G. Morgese, P. Balestri, R. Bartolo, 2006, Epilepsy Research.