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Research Output 1984 2019

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Article
2019
Hereditary Spastic Paraplegia
Pyramidal Tracts
Inborn Urea Cycle Disorder
Intellectual Disability
Hyperargininemia

Influence of etiology on treatment choices for neonatal seizures: A survey among pediatric neurologists

Dilena, R., De Liso, P., Di Capua, M., Consonni, D., Capovilla, G., Pisani, F., Suppiej, A., Vitaliti, G., Falsaperla, R. & Pruna, D., Jan 1 2019, In : Brain and Development. 41, 7, p. 595-599

Research output: Contribution to journalArticle

Epilepsy
Seizures
Pediatrics
Electroencephalography
Neonatal Intensive Care Units

Influence of etiology on treatment choices for neonatal seizures: A survey among pediatric neurologists

Dilena, R., De Liso, P., Di Capua, M., Consonni, D., Capovilla, G., Pisani, F., Suppiej, A., Vitaliti, G., Falsaperla, R. & Pruna, D., Apr 3 2019, In : Brain and Development.

Research output: Contribution to journalArticle

Epilepsy
Seizures
Pediatrics
Electroencephalography
Neonatal Intensive Care Units
2018

Axonal peripheral neuropathy in propionic acidemia: A severe side effect of long-term metronidazole therapy

Diodato, D., Olivieri, G., Pro, S., Maiorani, D., Martinelli, D., Deodato, F., Taurisano, R., Di Capua, M. & Dionisi-Vici, C., Sep 18 2018, In : Neurology. 91, 12, p. 565-567 3 p.

Research output: Contribution to journalArticle

2017

Bilateral loss of cortical SEPs predict severe MRI lesions in neonatal hypoxic ischemic encephalopathy treated with hypothermia

Suppiej, A., Cappellari, A., Talenti, G., Cainelli, E., Di Capua, M., Janes, A., Longo, D., Mardari, R., Marinaccio, C., Pro, S., Sciortino, P., Trevisanuto, D., Vittorini, R. & Manara, R., Nov 6 2017, In : Clinical Neurophysiology. 129, 1, p. 95-100 6 p.

Research output: Contribution to journalArticle

Brain Hypoxia-Ischemia
Somatosensory Evoked Potentials
Hypothermia
Induced Hypothermia
Brain Injuries
2016
Missense Mutation
Ataxia
Migraine Disorders
Cerebellar Diseases
Mutation

Mutations in the Heme Exporter FLVCR1 Cause Sensory Neurodegeneration with Loss of Pain Perception

Chiabrando, D., Castori, M., di Rocco, M., Ungelenk, M., Gießelmann, S., Di Capua, M., Madeo, A., Grammatico, P., Bartsch, S., Hübner, C. A., Altruda, F., Silengo, L., Tolosano, E. & Kurth, I., Dec 2016, In : PLoS Genetics. 12, 12, p. e1006461

Research output: Contribution to journalArticle

Feline Leukemia Virus
Feline leukemia virus
Pain Perception
heme
Heme
2015

A Novel Mutation in RPL10 (Ribosomal Protein L10) Causes X-Linked Intellectual Disability, Cerebellar Hypoplasia, and Spondylo-Epiphyseal Dysplasia

Zanni, G., Kalscheuer, V. M., Friedrich, A., Barresi, S., Alfieri, P., Di Capua, M., Haas, S. A., Piccini, G., Karl, T., Klauck, S. M., Bellacchio, E., Emma, F., Cappa, M., Bertini, E. & Breitenbach-Koller, L., Dec 1 2015, In : Human Mutation. 36, 12, p. 1155-1158 4 p.

Research output: Contribution to journalArticle

Intellectual Disability
Mutation
Ribosomal Proteins
Missense Mutation
Ribosomes
2014

Neurally adjusted ventilatory assist and guillain-barre syndrome in a child

Rossetti, E., Bianchi, R., Pro, S., Di Capua, M. & Picardo, S., Aug 1 2014, In : Minerva Anestesiologica. 80, 8, p. 972-973 2 p.

Research output: Contribution to journalArticle

2012

Longitudinal myelitis in systemic lupus erythematosus: A paediatric case

Campana, A., Buonuomo, P. S., Insalaco, A., Bracaglia, C., Capua, M. D., Cortis, E. & Ugazio, A. G., Aug 2012, In : Rheumatology International. 32, 8, p. 2585-2588 4 p.

Research output: Contribution to journalArticle

Transverse Myelitis
Myelitis
Systemic Lupus Erythematosus
Pediatrics
Paresthesia
2010

Dorsal brain stem syndrome: MR imaging location of brain stem tegmental lesions in neonates with oral motor dysfunction

Quattrocchi, C. C., Longo, D., Delfino, L. N., Cilio, M. R., Piersigilli, F., Capua, M. D., Seganti, G., Danhaive, O. & Fariello, G., Sep 2010, In : American Journal of Neuroradiology. 31, 8, p. 1438-1442 5 p.

Research output: Contribution to journalArticle

Brain Stem
Newborn Infant
Brain Hypoxia-Ischemia

Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies

Cassandrini, D., Biancheri, R., Tessa, A., Di Rocco, M., Di Capua, M., Bruno, C., Denora, P. S., Sartori, S., Rossi, A., Nozza, P., Emma, F., Mezzano, P., Politi, M. R., Laverda, A. M., Zara, F., Pavone, L., Simonati, A., Leuzzi, V., Santorelli, F. M. & Bertini, E., Oct 19 2010, In : Neurology. 75, 16, p. 1459-1464 6 p.

Research output: Contribution to journalArticle

Mutation
Phenotype
Pontocerebellar Hypoplasia
Bartter Syndrome
Genes
2009

Intravenous levetiracetam terminates refractory status epilepticus in two patients with migrating partial seizures in infancy

Cilio, M. R., Bianchi, R., Balestri, M., Onofri, A., Giovannini, S., Di Capua, M. & Vigevano, F., Sep 2009, In : Epilepsy Research. 86, 1, p. 66-71 6 p.

Research output: Contribution to journalArticle

etiracetam
Status Epilepticus
Seizures
Electroencephalography
Ammonia

Subdural fluid collections in patients with infantile neuronal ceroid lipofuscinosis

Levin, S. W., Baker, E. H., Gropman, A., Quezado, Z., Miao, N., Zhang, Z., Jollands, A., Di Capua, M., Caruso, R. & Mukherjee, A. B., Dec 2009, In : Archives of Neurology. 66, 12, p. 1567-1571 5 p.

Research output: Contribution to journalArticle

Neuronal Ceroid-Lipofuscinoses
Magnetic Resonance Imaging
Incidental Findings
Endocrinology
National Institutes of Health (U.S.)
2008

La sincope in età pediatrica. Linee guida a cura di SIP, SIMEUP, SICP, FMSI, AIAC SIC SPORT, FIMP, GSCP, GSMESPO, SINPIA, SINC

Translated title of the contribution: Syncope in childhood. Treatment guidelines by the SIP, SIMEUP, SICP, FMSI, AIAC SIC SPORT, FIMP, GSCP, GSMESPO, SINPIA and SINCRaucci, U., Longhi, R., Calmieri, A., Osti, M., Scateni, S., Tozzi, A. E., Reale, A., Rimini, A., Giada, F., Foglia Manzillo, G., Francese, G. M., Ammirati, F., Drago, F., Semproni, G., Campisi, M., Rando, F., Giordano, U., Veggiotti, P., Vigevano, F. & Di Capua, M., Oct 2008, In : Minerva Pediatrica. 60, 5, p. 840-845 6 p.

Research output: Contribution to journalArticle

2007

Biochemical and molecular characterization of 18 patients with pyridoxine-dependent epilepsy and mutations of the antiquitin (ALDH7A1) gene

Plecko, B., Paul, K., Paschke, E., Stoeckler-Ipsiroglu, S., Struys, E., Jakobs, C., Hartmann, H., Luecke, T., Di Capua, M., Korenke, C., Hikel, C., Reutershahn, E., Freilinger, M., Baumeister, F., Bosch, F. & Erwa, W., Jan 2007, In : Human Mutation. 28, 1, p. 19-26 8 p.

Research output: Contribution to journalArticle

Pyridoxine
Mutation
Genes
Seizures
Carboxylic Acids
2003

Infantile ascending hereditary spastic paralysis (IAHSP): Clinical features in 11 families

Lesca, G., Eymard-Pierre, E., Santorelli, F. M., Cusmai, R., Di Capua, M., Valente, E. M., Attia-Sobol, J., Plauchu, H., Leuzzi, V., Ponzone, A., Boespflug-Tanguy, O. & Bertini, E., Feb 25 2003, In : Neurology. 60, 4, p. 674-682 9 p.

Research output: Contribution to journalArticle

Muscle Spasticity
Paralysis
Motor Neurons
Phenotype
Internal Capsule
2002

Infantile-onset ascending hereditary spastic paralysis is associated with mutations in the alsin gene

Eymard-Pierre, E., Lesca, G., Dollet, S., Santorelli, F. M., Di Capua, M., Bertini, E. & Boespflug-Tanguy, O., Sep 2002, In : American Journal of Human Genetics. 71, 3, p. 518-527 10 p.

Research output: Contribution to journalArticle

Motor Neurons
Mutation
Genes
Paraplegia
Retrograde Degeneration
2001

Clinical and molecular findings in hyperornithinemia-hyperammonemia-homocitrullinuria syndrome

Salvi, S., Santorelli, F. M., Bertini, E., Boldrini, R., Meli, C., Donati, A., Burlina, A. B., Rizzo, C., Di Capua, M., Fariello, G. & Dionisi-Vici, C., Sep 11 2001, In : Neurology. 57, 5, p. 911-914 4 p.

Research output: Contribution to journalArticle

Spastic Paraparesis
Pyramidal Tracts
Missense Mutation
Neurologic Manifestations
Genes

Neurofibromatosis type 1 presenting with hand dystonia

Di Capua, M., Lispi, M. L., Giannotti, A., Longo, D. & Fariello, G., 2001, In : Journal of Child Neurology. 16, 8, p. 606-608 3 p.

Research output: Contribution to journalArticle

Neurofibromatosis 1
Dystonia
Hand
Magnetic Resonance Imaging
Brain

Respiratory chain defects in hereditary spastic paraplegias

Piemonte, F., Casali, C., Carrozzo, R., Schägger, H., Patrono, C., Tessa, A., Tozzi, G., Cricchi, F., Di Capua, M., Siciliano, G., Amabile, G. A., Morocutti, C., Bertini, E. & Santorelli, F. M., 2001, In : Neuromuscular Disorders. 11, 6-7, p. 565-569 5 p.

Research output: Contribution to journalArticle

Hereditary Spastic Paraplegia
Electron Transport
Oxidative Phosphorylation
Molecular Biology
Mutation
Brain Diseases
Electroencephalography
Seizures
Stroke
Video Recording
2000

Ataxia, deafness, leukodystrophy: Inherited disorder of the white matter in three related patients

Leuzzi, V., Rinna, A., Gallucci, M., Di Capua, M., Dionisi-Vici, C., Longo, D. & Bertini, E., Jun 27 2000, In : Neurology. 54, 12, p. 2325-2328 4 p.

Research output: Contribution to journalArticle

Deafness
Ataxia
Pedigree
Italy
Phenotype
1999

Convulsioni neonatali sintomatiche. Considerazioni sulla classificazione internazionale delle convulsioni neonatali, basate su una casistica personale

Translated title of the contribution: Symptomatic neonatal seizures. Observations on ILAE classification of neonatal seizures based on personal dataMastrangelo, M., Rosco, A., Di Capua, M. & Vigevano, F., 1999, In : Bollettino - Lega Italiana contro l'Epilessia. 106-107, p. 23-26 4 p.

Research output: Contribution to journalArticle

Seizures
Epilepsy
Electroencephalography

Neurophysiologic follow-up of long-term dietary treatment in adult- onset adrenoleukodystrophy

Restuccia, D., Di Lazzaro, V., Valeriani, M., Oliviero, A., Le Pera, D., Barba, C., Cappa, M., Bertini, E., Di Capua, M. & Tonali, P., Mar 10 1999, In : Neurology. 52, 4, p. 810-816 7 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Somatosensory Evoked Potentials
Motor Evoked Potentials
Brain
Therapeutics
European Union
Seizures
Newborn Infant
Epilepsy
Status Epilepticus
1998

A novel insertion mutation (A(169i)) in the CLN1 gene is associated with infantile neuronal ceroid lipofuscinosis in an Italian patient

Santorelli, F. M., Bertini, E., Petruzzella, V., Capua, M. D., Calvieri, S., Gasparini, P. & Zeviani, M., Apr 17 1998, In : Biochemical and Biophysical Research Communications. 245, 2, p. 519-522 4 p.

Research output: Contribution to journalArticle

Ceroid
Neuronal Ceroid-Lipofuscinoses
Insertional Mutagenesis
Genes
Mutation

Familial spastic paraplegia, axonal sensory-motor polyneuropathy and bulbar amyotrophy with facial dysmorphia: New cases of Troyer-like syndrome

Bertini, E., Sabatelli, M., Di Capua, M., Cilio, M. R., Mignogna, T., Federico, A. & Tonali, P., 1998, In : European Journal of Paediatric Neurology. 2, 5, p. 245-254 10 p.

Research output: Contribution to journalArticle

Polyneuropathies
Neuromuscular Junction
Paraplegia
Ataxia
Nervous System Diseases
1995

Hemimegalencephaly, hemihypertrophy and vascular lesions

Cristaldi, A., Vigevano, F., Antoniazzi, G., di Capua, M., Andreuzzi, A., Morselli, G., Iorio, F., Fariello, G., Trasimeni, G., Gualdi, G. F. & Iannetti, P., Feb 1995, In : European Journal of Pediatrics. 154, 2, p. 134-137 4 p.

Research output: Contribution to journalArticle

Brain Stem Infarctions
Blood Vessels
Hemimegalencephaly

Remission in Dihydroxyphenylalanine-responsive dystonia [1]

Di Capua, M. & Bertini, E., 1995, In : Movement Disorders. 10, 2, p. 223 1 p.

Research output: Contribution to journalArticle

1994

ADRENOLAUCODISTROFIA: ASPETTI CLINICI E TERAPEUTICI NELLA ESPERIENZA ITALIANA

Translated title of the contribution: Adrenoleukodystrophy: Clinical and therapeutical aspects in the Italian experienceCappa, M., Bertini, E., Cambiaso, P., Del Balzo, P., Di Capua, M., Milani, L., Bardelli, P., Rimoldi, M. & Uziel, G., 1994, In : Rivista Italiana di Pediatria. 20, 2, p. 130-137 8 p.

Research output: Contribution to journalArticle

Adrenoleukodystrophy
Fatty Acids
Triolein
Inborn Errors Metabolism
Adrenal Insufficiency

Benign infantile familial convulsions are not an allelic form of the benign familial neonatal convulsions gene

Malafosse, A., Beck, C., Bellet, H., Di Capua, M., Dulac, O., Echenne, B., Fusco, L., Lucchini, P., Ricci, S., Sebastianelli, R., Feingold, J., Baldy-Moulinier, M. & Vigevano, F., Apr 1994, In : Annals of Neurology. 35, 4, p. 479-482 4 p.

Research output: Contribution to journalArticle

Benign Neonatal Epilepsy
Genes
Age of Onset
Seizures
Chromosomes

Bilateral, reversible, selective thalamic involvement demonstrated by brain MR and acute severe neurological dysfunction with favorable outcome

Cusmai, R., Bertini, E., Di Capua, M., Ricci, S., Vigevanno, F., Milani, L. & Fariello, G., 1994, In : Neuropediatrics. 25, 1, p. 44-47 4 p.

Research output: Contribution to journalArticle

Oligoclonal Bands
Brain
Decerebrate State
Quadriplegia
Coma

Early cognition, communication and language in children with focal brain injury

Dall'Oglio, A. M., Bates, E., Volterra, V., Di Capua, M. & Pezzini, G., 1994, In : Developmental Medicine and Child Neurology. 36, 12, p. 1076-1098 23 p.

Research output: Contribution to journalArticle

Child Language
Linguistics
Brain Injuries
Cognition
Language

LA LAMOTRIGINA COME 'COMPASSIONATE THERAPY' IN ETA PEDIATRICA

Translated title of the contribution: Lamotrigine as compassionate therapy in paediatric ageFusco, L., Di Capua, M., Bertini, E. & Vigevano, F., 1994, In : Bollettino - Lega Italiana contro l'Epilessia. 86-87, p. 125-126 2 p.

Research output: Contribution to journalArticle

Seizures
Pediatrics
Absence Epilepsy
Spasm
Therapeutics

LESIONI EMISFERICHE SINISTRE E STATI DI PO DURANTE IL SONNO E LA VEGLIA

Translated title of the contribution: Left hemispheric lesions and spike-wave status during sleep and wakefulnessRicci, S., Di Capua, M., Cusmai, R. & Vigevano, F., 1994, In : Bollettino - Lega Italiana contro l'Epilessia. 86-87, p. 347-348 2 p.

Research output: Contribution to journalArticle

Wakefulness
Sleep
Lissencephaly
1993

Benign intracranial hypertension in an older child with cystic fibrosis

Lucidi, V., Di Capua, M., Rosati, P., Papadatou, B. & Castro, M., 1993, In : Pediatric Neurology. 9, 6, p. 494-495 2 p.

Research output: Contribution to journalArticle

Pseudotumor Cerebri
Cystic Fibrosis
Papilledema
Vitamin A
Vitamin E

Benign neonatal sleep myoclonus: Clinical features and video-polygraphic recordings

Di Capua, M., Fusco, L., Ricci, S. & Vigevano, F., 1993, In : Movement Disorders. 8, 2, p. 191-194 4 p.

Research output: Contribution to journalArticle

Parasomnias
Video Recording
Myoclonus
Eye Movements
Epilepsy

Fisiologica variabilità delle dimensioni dei forami giugulari. Riflessioni critiche sui problemi di diagnostica differenziale clinico-radiologica.

Translated title of the contribution: Physiologic variability of jugular foramen dimensions. Critical reflections on the problems of clinico-radiologic differential diagnosisGugliantini, P., De Sanctis, R. & Di Capua, M., Dec 1993, In : Radiologia Medica. 86, 6, p. 904-907 4 p.

Research output: Contribution to journalArticle

IL MIOCLONO BENIGNO NEONATALE DEL SONNO: UNA FAMIGLIA CON TRE BAMBINE AFFETTE DA MIOCLONO

Translated title of the contribution: Benign neonatal sleep myoclonus: Report of a family with three affected girlsCarullo, A., Vaccario, M. L., Di Capua, M., Vigevano, F. & Mazza, S., 1993, In : Bollettino - Lega Italiana contro l'Epilessia. 82-83, p. 199-201 3 p.

Research output: Contribution to journalArticle

Parasomnias
Myoclonus
Siblings
Sleep
Extremities

LO STATO EPILETTICO COME COMPLICANZA DI INTERVENTO CARDIOCHIRURGICO IN ETA PEDIATRICA

Translated title of the contribution: Status epilepticus following cardiac surgery in pediatric ageRicci, S., Cilio, M. R., Squitieri, C., Realacci, M. G., Di Capua, M. & Vigevano, F., 1993, In : Bollettino - Lega Italiana contro l'Epilessia. 84, p. 117-118 2 p.

Research output: Contribution to journalArticle

Status Epilepticus
Thoracic Surgery
Pediatrics
Congenital Heart Defects
Hypothermia

MONITORIZZAZIONE EEG PROLUNGATA IN BAMBINI CON PUNTA-ONDA CONTINUO NEL SONNO LENTO

Translated title of the contribution: Long-term EEG monitoring in children with continuous spike-waves during slow sleepRicci, S., Di Capua, M., Faedda, M. T., Quarato, P. P. & Vigevano, F., 1993, In : Bollettino - Lega Italiana contro l'Epilessia. 84, p. 303-304 2 p.

Research output: Contribution to journalArticle

Electroencephalography
Sleep
Status Epilepticus
Wakefulness

Somatosensory evoked potentials in hemimegalencephaly and lissencephaly: anatomo-functional correlations

Capua, M. D., Vigevano, F. & Wisniewski, K., 1993, In : Brain and Development. 15, 4, p. 253-257 5 p.

Research output: Contribution to journalArticle

Lissencephaly
Somatosensory Evoked Potentials
Brachial Plexus
Median Nerve
Hemimegalencephaly
1992

Benign infantile familial convulsions

Vigevano, F., Fusco, L., Di Capua, M., Ricci, S., Sebastianelli, R. & Lucchini, P., Aug 1992, In : European Journal of Pediatrics. 151, 8, p. 608-612 5 p.

Research output: Contribution to journalArticle

Benign Neonatal Epilepsy
Seizures
Electroencephalography
Occipital Lobe
Valproic Acid

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

Myoclonic Epilepsy
Muscle Hypotonia
Macular Degeneration
Ataxia
Septum Pellucidum

EPILESSIA CON PUNTA-ONDA CONTINUO NEL SONNO LENTO E STATO DI PUNTA-ONDA IN VEGLIA

Translated title of the contribution: Epilepsy with continuous spikes-and-waves during slow sleep and spike-and-wave-status during wakefulnessRicci, S., Di Capua, M., Cusmai, R., Milani, L., Claps, D. & Vigevano, F., 1992, In : Bollettino - Lega Italiana contro l'Epilessia. 79-80, p. 205-206 2 p.

Research output: Contribution to journalArticle

Wakefulness
Epilepsy
Sleep
REM Sleep

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

Reflex Epilepsy
Seizures
Stroke
Light
Generalized Epilepsy

Sixth-month benign familial convulsions.

Vigevano, F., Di Capua, M., Fusco, L., Ricci, S., Sebastianelli, R. & Lucchini, P., 1992, In : Epilepsy research. Supplement. 6, p. 127-129 3 p.

Research output: Contribution to journalArticle