1978 …2020

Research output per year

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Research Output

1978

Bromocryptine in clinical neurology

Casacchia, M., Meco, G. & Bertini, E., 1978, In : Neuroscience Letters. 10, suppl. 1

Research output: Contribution to journalArticle

LA VELOCITA' DI CONDUZIONE MOTORIA E SENSITIVA IN ETA' PEDIATRICA

Translated title of the contribution: Motor and sensory conduction velocity in infants and childrenBenedetti, P., Sideri, G. & Bertini, E., 1978, In : Neuropsichiatria Infantile. NO. 207, p. 1059-1070 12 p.

Research output: Contribution to journalArticle

LA VELOCITA' DI CONDUZIONE MOTORIA NELLE ATROFIE SPINALI INFANTILI

Translated title of the contribution: Motor conduction velocity in infantile spinal muscular atrophyBenedetti, P., Sideri, G. & Bertini, E., 1978, In : Neuropsichiatria Infantile. NO. 207, p. 1053-1058 6 p.

Research output: Contribution to journalArticle

LEGISLAZIONE IN MATERIA DE EPILESSIA

Translated title of the contribution: Italian law relating to epilepsySideri, G., Bertini, E. & Bianchi, A., 1978, In : Bollettino - Lega Italiana contro l'Epilessia. NO. 21, p. 2-4 3 p.

Research output: Contribution to journalArticle

1979

CRISI DI GRANDE MALE DA IPOPARATIROIDISMO IDIOPATICO: PARTICOLARITA' DI UN CASO

Translated title of the contribution: Grand mal seizures due to idiopathic hypoparathyroidism; details of a caseBertini, E., Bianchi, A. & Liuzzo, M. C., 1979, RIV. ITAL. ELETTROENCEFALOGR. NEUROFISIOL.. 1 ed. Vol. 2. p. 91-95 5 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

ELETTROENCEFALOGRAMMA E TOMOGRAFIA ASSIALE COMPUTERIZZATA

Translated title of the contribution: EEG and computer tomographyAntonelli, M., Bertini, E. & Bianchi, A., 1979, RIV. ITAL. ELETTROENCEFALOGR. NEUROFISIOL.. 1 ed. Vol. 2. p. 33-38 6 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

LA VELOCITA' DI CONDUZIONE MOTORIA NELLE ATROFIE SPINALI INFANTILI

Translated title of the contribution: Motor conduction velocity in infantile spinal atrophySideri, G., Bertini, E. & Bianchi, A., 1979, RIV. ITAL. ELETTROENCEFALOGR. NEUROFISIOL. CLIN.. 3 ed. Vol. 2. p. 639-642 4 p.

Research output: Chapter in Book/Report/Conference proceedingChapter

1980

PSICOSI EPILETTICA

Translated title of the contribution: Epileptic psychosisBertini, E., Bianchi, A. & Sideri, G., 1980, In : Rivista di Neurologia. 50, 1, p. 32-43 12 p.

Research output: Contribution to journalArticle

1981

L'encefalopatia mioclonica neonatale. Contributo di un caso con sospetta eziologia dismetabolica.

Translated title of the contribution: Neonatal myoclonic encephalopathy. Contribution of a case with suspected dysmetabolic etiologyVigevano, F., Cincinnati, P., Bertini, E., Bosman, C., Gisondi, A. & Maccagnani, F., Jul 1981, In : Rivista di Neurobiologia. 27, 34, p. 458-466 9 p.

Research output: Contribution to journalArticle

1982

ENCEFALOPATIA MIOCLONICA PRECOCE ASSOCIATA AD ALTI LIVELLI DI ACIDO PROPIONICO NEL SIERO

Translated title of the contribution: Early myoclonus encephalopathy associated with high propionic content in serumVigevano, F., Maccagnani, F. & Bertini, E., 1982, In : Bollettino - Lega Italiana contro l'Epilessia. No. 39, p. 181-182 2 p.

Research output: Contribution to journalArticle

1984

ASPETTI CLINICI, ELETTROENCEFALOGRAFICI E NEURORADIOLOGICI DELLA AGIRIA-PACHIGIRIA

Translated title of the contribution: Agyria-pachygiria: Clinical, EEG and neuroradiological findingsVigevano, F., Sebastianelli, R. & Bertini, E., 1984, In : Bollettino - Lega Italiana contro l'Epilessia. NO. 45-46, p. 135-138 4 p.

Research output: Contribution to journalArticle

CISTI ARACNOIDEE DELLA REGIONE PINEALE ED EPILESSIA: PRESENTAZIONE DI DUE CASI

Translated title of the contribution: Arachnoid cysts of the pineal region and epilepsy: Report of two casesBertini, E., Di Rocco, C. & Di Capua, M., 1984, In : Bollettino - Lega Italiana contro l'Epilessia. NO. 45-46, p. 145-146 2 p.

Research output: Contribution to journalArticle

IL PROBLEMA DELLA PREVALENZA SINISTRA DELLE ALTERAZIONI EEG: ANALISI STATISTICHE

Translated title of the contribution: The problem of left prevalence of EEG alterations: Statistical analysisManfredi, M., Iani, C. & Bertini, E., 1984, In : Bollettino - Lega Italiana contro l'Epilessia. NO. 45-46, p. 239-240 2 p.

Research output: Contribution to journalArticle

1985

Sacral evoked reflex in children

de Gennaro, M., Bertini, E., di Capua, M., Capozza, N. & Caione, P., 1985, In : Neurourology and Urodynamics. 4, 2, p. 149-150 2 p.

Research output: Contribution to journalLetter

1986

The spectrum of the so-called rigid spine syndrome: nosological considerations and report of three female cases

Bertini, E., Marini, R., Sabetta, G., Palmieri, G. P., Spagnoli, L. G., Vaccario, M. L. & de Barsy, T., Aug 1986, In : Journal of Neurology. 233, 4, p. 248-253 6 p.

Research output: Contribution to journalArticle

1987

Brief clinical report: The CFC syndrome. Report of the first two cases outside the United States

Neri, G., Sabatino, G., Bertini, E. & Genuardi, M., 1987, In : American Journal of Medical Genetics. 27, 4, p. 767-771 5 p.

Research output: Contribution to journalArticle

Emorragia endocranica recidivante in un lattante con deficit congenito di fattore VII. Sopravvivenza e follow-up dopo intervento neurochirurgico.

Translated title of the contribution: Recurrent intracranial hemorrhage in a nursing infant with congenital factor VII deficiency. Survival and follow-up after neurosurgical interventionMiano, C., Donfrancesco, A., Lombardi, A., Zama, F., Bertini, E., D'Argenio, P. & Rosati, D., Oct 15 1987, In : Minerva Pediatrica. 39, 19, p. 807-811 5 p.

Research output: Contribution to journalArticle

Myotonic dystrophy and chromosome translocation segregating in the same family

Neri, G., Bertini, E., Serra, A., Tedeschi, B., Campana, M., Tonali, P., Mercurio, D. D. & Angelini, C., 1987, In : Journal of Neurogenetics. 4, 1, p. 47-56 10 p.

Research output: Contribution to journalArticle

1988

Agenesis of the corpus callosum, combined immunodeficiency, bilateral cataract, and hypopigmentation in two brothers

Vici, C. D., Sabetta, G., Gambarara, M., Vigevano, F., Bertini, E., Boldrini, R., Parisi, S. G., Quinti, I., Aiuti, F. & Fiorilli, N. V., 1988, In : American Journal of Medical Genetics. 29, 1, p. 1-8 8 p.

Research output: Contribution to journalArticle

Carnitine in lactic acidosis

Vici, C. D., Bertini, E., Bartuli, A. & Sabetta, G., 1988, In : Journal of Pediatrics. 112, 4, p. 678 1 p.

Research output: Contribution to journalArticle

Diaphragmatic paralysis due to partial diaphragmatic hypoplasia mimicking a localized muscular dystrophy: A case report

Bosman, C., Bachelet, V., Boldrini, R. & Bertini, E., 1988, In : Clinical Neuropathology. 7, 1, p. 33-38 6 p.

Research output: Contribution to journalArticle

Late onset scleroatonic familial myopathy (Ullrich disease): A study of two sibs

Ricci, E., Bertini, E., Boldrini, R., Sabatelli, M., Servidei, S., Mazziotta, M. R. M., Bosman, C. & Tonali, P., 1988, In : American Journal of Medical Genetics. 31, 4, p. 933-942 10 p.

Research output: Contribution to journalArticle

1989

Analysis of mutagenic activity in human urine after concentration on different resins and high-performance liquid chromatography

Salvadori, M., Dolara, P., Bertini, E. & Coppi, C., 1989, In : Toxicology Letters. 45, 2-3, p. 241-249 9 p.

Research output: Contribution to journalArticle

An autosomal dominant disorder with multiple deletions of mitochondrial DNA starting at the D-loop region

Zeviani, M., Servidei, S., Gellera, C., Bertini, E., DiMauro, S. & DiDonato, S., 1989, In : Nature. 339, 6222, p. 309-311 3 p.

Research output: Contribution to journalArticle

Distal infantile spinal muscular atrophy associated with paralysis of the diaphragm: A variant of infantile spinal muscular atrophy

Bertini, E., Gadisseux, J. L., Palmieri, G., Ricci, E., Di Capua, M., Ferriere, G. & Lyon, G., 1989, In : American Journal of Medical Genetics. 33, 3, p. 328-335 8 p.

Research output: Contribution to journalArticle

EPILESSIA PARZIALE CONTINUA E DISPLASIA CORTICALE MULTIFOCALE

Translated title of the contribution: Epilepsia partialis continua and multifocal cortical dysplasiaFusco, L., Di Capua, M., Bertini, E., Ricci, S., Milani, L. & Vigevano, F., 1989, Bollettino - Lega Italiana contro l'Epilessia. 66-67 ed. p. 261-262 2 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Hemimegalencephaly and intractable epilepsy: Benefits of hemispherectomy

Vigevano, F., Bertini, E., Boldrini, R., Bosman, C., Claps, D., Di Capua, M., Di Rocco, C. & Rossi, G. F., 1989, In : Epilepsia. 30, 6, p. 833-843 11 p.

Research output: Contribution to journalArticle

1990

A new therapeutic approach for X-linked adrenoleukodystrophy

Cappa, M., Bertini, E., DiCapua, M., Rimoldi, M. & Uziel, G., May 1990, In : European Journal of Pediatrics. 149, 8, p. 595-596 2 p.

Research output: Contribution to journalArticle

Cardiomyopathy and multicore myopathy with accumulation of intermediate filaments

Bertini, E., Bosman, C., Bevilacqua, M., Ricci, E., Gagliardi, G. M., Parisi, F., Servidei, S., Dionisi-Vici, C. & Ballerini, L., Sep 1990, In : European Journal of Pediatrics. 149, 12, p. 856-858 3 p.

Research output: Contribution to journalArticle

Follow-up of patients with adrenoleukodystrophy during GTO-GTE supplementation and dietary therapy

Bertini, E., Uziel, G., Di Capua, M., Fariello, G. & Bartolomeo, S., 1990, Adrenoleukodystrophy and other peroxisomal disorders. Clinical, biochemical, genetic and therapeutic aspects: proceedings of the International workshop. ICS898. Uziel, G., Wanders, R. J. A., Cappa, M., Uziel, G., Wanders, R. J. A. & Cappa, M. (eds.). Elsevier Science Publishers B.V., p. 195-203 9 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

Impaired skin fibroblast carnitine uptake in primary systemic carnitine deficiency manifested by childhood carnitine-responsive cardiomyopathy

Tein, I., De Vivo, D. C., Bierman, F., Pulver, P., De Meirleir, L. J., Cvitanovic-Sojat, L., Pagon, R. A., Bertini, E., Dionisi-Vici, C., Servidei, S. & Dimauro, S., 1990, In : Pediatric Research. 28, 3, p. 247-255 9 p.

Research output: Contribution to journalArticle

Involvement of respiratory muscles in cytoplasmic body myopathy - A pathological study

Bertini, E., Ricci, E., Boldrini, R., Servidei, S., Fusilli, S., Dionisi-Vici, C., Bosman, C. & Bonilla, E., 1990, In : Brain and Development. 12, 6, p. 798-806 9 p.

Research output: Contribution to journalArticle

Italian multicentric dietary therapeutical trial in adrenoleukodystrophy

Uziel, G., Bertini, E., Rimoldi, M. & Gambetti, M., 1990, Adrenoleukodystrophy and other peroxisomal disorders. Clinical, biochemical, genetic and therapeutic aspects: proceedings of the International workshop. ICS898. Uziel, G., Wanders, R. J. A., Cappa, M., Uziel, G., Wanders, R. J. A. & Cappa, M. (eds.). Elsevier Science Publishers B.V., p. 163-180 18 p.

Research output: Chapter in Book/Report/Conference proceedingConference contribution

1991

Alterazioni neuroendocrine nell'adrenoleucodistrofia (ALD). Relazioni con le nuove strategie terapeutiche.

Translated title of the contribution: Neuroendocrine changes in adrenoleukodystrophy (ALD). Their relationship with new therapeutic strategiesCappa, M., Lancia, A., Cambiaso, P., Del Balzo, P., Di Capua, M., Danielli, E., Gambetti, M. & Bertini, E., Mar 1991, In : Minerva Pediatrica. 43, 3, p. 125-126 2 p.

Research output: Contribution to journalArticle

Dominantly inherited mitochondrial myopathy with multiple deletions of mitochondrial DNA: Clinical, morphologic, and biochemical studies

Servidei, S., Zeviani, M., Manfredi, G., Ricci, E., Silvestri, G., Bertini, E., Gellera, C., Di Mauro, S., Di Donate, S. & Tonali, P., 1991, In : Neurology. 41, 7, p. 1053-1059 7 p.

Research output: Contribution to journalArticle

EMIMEGALENCEFALIA: CORRELAZIONE TRA NEUROIMAGING, DATI NEUROFISIOLOGICI ED EVOLUZIONE CLINICA

Translated title of the contribution: Hemimegalencephaly: Correlation between neuroimaging, neurophysiological data and clinical evolutionVigevano, F., Bertini, E., Claps, D., Cusmai, R., Di Capua, M., Fariello, G., Fusco, L., Granata, T. & Ricci, S., 1991, In : Bollettino - Lega Italiana contro l'Epilessia. 74, p. 157-159 3 p.

Research output: Contribution to journalArticle

Experience on therapy of adrenoleukodystrophy and adrenomyeloneuropathy

Uziel, G., Bertini, E., Bardelli, P., Rimoldi, M. & Gambetti, M., 1991, In : Developmental Neuroscience. 13, 4-5, p. 274-279 6 p.

Research output: Contribution to journalArticle

Neuromyopathy and restrictive cardiomyopathy with accumulation of intermediate filaments: a clinical, morphological and biochemical study

Bertini, E., Bosman, C., Ricci, E., Servidei, S., Boldrini, R., Sabatelli, M. & Salviati, G., May 1991, In : Acta Neuropathologica. 81, 6, p. 632-640 9 p.

Research output: Contribution to journalArticle

New clinical phenotype of branched-chain acyl-CoA oxidation defect

Burlina, A., Zacchello, F., Dionisi-Vici, C., Bertini, E., Sabetta, G., Bennet, M., Hale, D., Schmidt-Sommerfeld, E. & Rinaldo, P., Dec 14 1991, In : Lancet. 338, 8781, p. 1522-1523 2 p.

Research output: Contribution to journalArticle

Progressive neuropathy and recurrent myoglobinuria in a child with long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency

Vici, C. D., Burlina, A. B., Bertini, E., Bachmann, C., Mazziotta, M. R. M., Zacchello, F., Sabetta, G. & Hale, D. E., 1991, In : Journal of Pediatrics. 118, 5, p. 744-746 3 p.

Research output: Contribution to journalArticle

Terapia dietetica con acido erucico in pazienti affetti da adrenoleucodistrofia X linked.

Translated title of the contribution: Diet therapy with erucic acid in patients with X-linked adrenoleukodystrophyUziel, G., Bertini, E., Bardelli, P., Rimoldi, M. & Gambetti, M., Mar 1991, In : Minerva Pediatrica. 43, 3, p. 127-131 5 p.

Research output: Contribution to journalArticle

1992

Bilateral striatal necrosis, dystonia and optic atrophy in two siblings

Leuzzi, V., Bertini, E., De Negri, A. M., Gallucci, M. & Garavaglia, B., 1992, In : Journal of Neurology, Neurosurgery and Psychiatry. 55, 1, p. 16-19 4 p.

Research output: Contribution to journalArticle

Biopsy diagnosis of a case of adult onset orthochromatic leukodystrophy. Clinical and brain biopsy findings

Calandriello, L., Matteucci, C., Bertini, E., Medolago Albani, L., Antonelli, A., Manfredi, M. & Palladini, G., Dec 1992, In : Italian Journal of Neurological Sciences. 13, 9, p. 787-792 6 p.

Research output: Contribution to journalArticle

Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections

Bertini, E., Cusmai, R., De Saint Basile, G., Le Deist, F., Di Capua, M., Gaggero, D. R., Dionisi-Vici, C., Santillo, C. & Caniglia, M., 1992, In : American Journal of Medical Genetics. 43, 1-2, p. 443-451 9 p.

Research output: Contribution to journalArticle

Epilepsia partialis continua and neuronal migration anomalies

Fusco, L., Bertini, E. & Vigevano, F., 1992, In : Brain and Development. 14, 5, p. 323-328 6 p.

Research output: Contribution to journalArticle

Fatal infantile liver failure associated with mitochondrial DNA depletion

Mazziotta, M. R. M., Ricci, E., Bertini, E., Vici, C. D., Servidei, S., Burlina, A. B., Sabetta, G., Bartuli, A., Manfredi, G., Silvestri, G., Moraes, C. T. & DiMauro, S., 1992, In : Journal of Pediatrics. 121, 6, p. 896-901 6 p.

Research output: Contribution to journalArticle

FOTOSENSIBILITA CRITICA OCCIPITALE: UN RARO TIPO DI FOTOSENSIBILITA COMUNE A DIVERSE FORME CLINICHE

Translated title of the contribution: Ictal occipital photosensitivity: A rare form of photosensitivity occurring in various clinical conditionsRicci, S., Cusmai, R., Bertini, E., Di Capua, M. & Vigevano, F., 1992, In : Bollettino - Lega Italiana contro l'Epilessia. 79-80, p. 179-180 2 p.

Research output: Contribution to journalArticle

Giant axonal neuropathy: report on a case with focal fiber loss

Sabatelli, M., Bertini, E., Servidei, S., Fernandez, E., Magi, S. & Tonali, P., Apr 1992, In : Acta Neuropathologica. 83, 5, p. 543-546 4 p.

Research output: Contribution to journalArticle

Peripheral neuropathy with giant axons and cardiomyopathy associated with desmin type intermediate filaments in skeletal muscle

Sabatelli, M., Bertini, E., Ricci, E., Salviati, G., Magi, S., Papacci, M. & Tonali, P., 1992, In : Journal of the Neurological Sciences. 109, 1, p. 1-10 10 p.

Research output: Contribution to journalArticle