Search Results - "Laverda, A"

Infantile encephalomyopathy and nephropathy with CoQ10 deficiency : A CoQ10-responsive condition by SALVIATI, L, SACCONI, S, NAINI, A. B, NAVAS, P, DIMAURO, S, MONTINI, G, MURER, L, ZACCHELLO, G, FRANCESCHINI, L, LAVERDA, A. M, BASSO, G, QUINZII, C, ANGELINI, C, HIRANO, M

“…Coenzyme Q10 (CoQ10) deficiency has been associated with various clinical phenotypes, including an infantile multisystem disorder. The authors report a…”
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Clinical and diagnostic aspects of multiple sclerosis and acute monophasic encephalomyelitis in pediatric patients: a single centre prospective study by Atzori, M, Battistella, PA, Perini, P, Calabrese, M, Fontanin, M, Laverda, AM, Suppiej, A, Drigo, P, Grossi, P, Rinaldi, L, Gallo, P

“…Objective The purpose of the study was to compare and contrast the initial presenting demographic, clinical, neuroimaging, and laboratory features in a cohort…”
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Congenital muscular dystrophies with defective glycosylation of dystroglycan: A population study by MERCURI, E, MESSINA, S, BOFFI, P, CASSANDRINI, D, LAVERDA, A, MOGGIO, M, MORANDI, L, MORONI, I, PANE, M, PEZZANI, R, PICHIECCHIO, A, PINI, A, BRUNO, C, MINETTI, C, MONGINI, T, MOTTARELLI, E, RICCI, E, RUGGIERI, A, SAREDI, S, SCUDERI, C, TESSA, A, TOSCANO, A, TORTORELLA, G, MORA, M, TREVISAN, C. P, UGGETTI, C, VASCO, G, SANTORELLI, F. M, BERTINI, E, PEGORARO, E, COMI, G. P, D'AMICO, A, AIELLO, C, BIANCHERI, R, BERARDINELLI, A

“…Congenital muscular dystrophies (CMD) with reduced glycosylation of alpha-dystroglycan (alpha-DG) are a heterogeneous group of conditions associated with…”
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Pontocerebellar hypoplasia: Clinical, pathologic, and genetic studies by CASSANDRINI, D, BIANCHERI, R, EMMA, F, MEZZANO, P, POLITI, M. R, LAVERDA, A. M, ZARA, F, PAVONE, L, SIMONATI, A, LEUZZI, V, SANTORELLI, F. M, BERTINI, E, TESSA, A, DI ROCCO, M, DI CAPUA, M, BRUNO, C, DENORA, P. S, SARTORI, S, ROSSI, A, NOZZA, P

“…Mutations in genes encoding subunits of the tRNA-splicing endonuclease (TSEN) complex were identified in patients with pontocerebellar hypoplasia 2 (PCH2) and…”
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Norovirus gastroenteritis and seizures: an atypical case with neuroradiological abnormalities by Bartolini, L, Mardari, R, Toldo, I, Calderone, M, Battistella, P A, Laverda, A M, Sartori, S

“…We describe an 8-year-old boy admitted because of prolonged seizures during norovirus gastroenteritis without any signs of encephalopathy. Blood tests were…”
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Hemiconvulsion–hemiplegia–epilepsy syndrome: Early magnetic resonance imaging findings and neuroradiological follow-up by Toldo, I., Calderone, M., Boniver, C., Dravet, Ch, Guerrini, R., Laverda, A.M.

“…We describe a case of hemiconvulsion–hemiplegia–epilepsy (HHE) syndrome documented by longitudinal magnetic resonance imaging (MRI). A two-year and…”
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Germinoma with synchronous involvement of midline and off-midline structures associated with progressive hemiparesis and hemiatrophy in a young adult by Sartori, S, Laverda, A M, Calderone, M, Carollo, C, Viscardi, E, Faggin, R, Perilongo, G

“…Cerebral germinomas, the most common and least malignant intracranial germ cell tumors, usually arise in the pineal or suprasellar region and have…”
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Neuropsychological evaluation of neurologically asymptomatic HIV-infected children by Bisiacchi, P S, Suppiej, A, Laverda, A

“…Forty-two children born to HIV positive mothers (29 infected at different stages of the disease, according to the Disease Control Classification Centers, and…”
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Cerebral sinus venous thrombosis with parenchymal infarcts in a newborn with severe haemophilia A and subdural haematomas by ZANON, E., GENTILOMO, C., LAVERDA, A., SUPPIEJ, A., SAGGIORATO, G., MANARA, R., SIMIONI, P.

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Fatal Naegleria fowleri meningoencephalitis, Italy by Cogo, Paola E, Scagli, Massimo, Gatti, Simonetta, Rossetti, Flavio, Alaggio, Rita, Laverda, Anna Maria, Zhou, Ling, Xiao, Lihua, Visvesvara, Govinda S

“…We report the first case of primary amebic meningoencephalitis in Italy, in a 9-year-old boy. Clinical course was fulminant, and diagnosis was made by…”
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Benign paroxysmal vertigo of childhood by DRIGO, Paola, CARLI, Giovanna, LAVERDA, Anna Maria

“…Benign paroxysmal vertigo of childhood (BPV) is a paroxysmal, non-epileptic, recurrent event characterized by subjective or objective vertigo that occurs in…”
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Benign paroxysmal torticollis of infancy by Drigo, Paola, Carli, Giovanna, Laverda, Anna Maria

“…Benign paroxysmal torticollis is an episodic functional disorder of unknown etiology that occurs in the early months of life in healthy individuals. The…”
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Diencephalic syndrome and disseminated juvenile pilocytic astrocytomas of the hypothalamic‐optic chiasm region by Perilongo, Giorgio, Carollo, Carla, Salviati, Leonardo, Murgia, Alessandra, Pillon, Marta, Basso, Giuseppe, Gardiman, Marina, Laverda, AnnaMaria

“…BACKGROUND Diencephalic syndrome (DS) is a complex of signs and symptoms related to hypothalamic dysfunction; its main features are emaciation, despite a…”
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Fumarase deficiency is an autosomal recessive encephalopathy affecting both the mitochondrial and the cytosolic enzymes by GELLERA, C, UZIEL, G, RIMOLDI, M, ZEVIANI, M, LAVERDA, A, CARRARA, F, DIDONATO, S

“…A 7-month-old boy died in a demented state after a clinical history characterized by generalized seizures, psychomotor deterioration, and fumaric aciduria. We…”
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Cerebrospinal fluid analysis in HIV-1-infected children: immunological and virological findings before and after AZT therapy by Laverda, A M, Gallo, P, De Rossi, A, Sivieri, S, Cogo, P, Pagliaro, A, Chieco-Bianchi, L, Tavolato, B

“…Immunological and viral studies were conducted on cerebrospinal fluid from 31 HIV-1-infected children, of whom 23 were neurologically asymptomatic and 8 had…”
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Acute encephalopathy as a primary manifestation of haemophagocytic lymphohistiocytosis by Kieslich, Matthias, Vecchi, Marilena, Driever, Pablo Hernaiz, Laverda, Anna Maria, Schwabe, Dirk, Jacobi, Gert

“…Haemophagocytic lymphohistiocytosis (HLH) is characterized anatomically by an infiltration of multiple tissues with lymphocytes and haemophagocytic…”
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Immunological markers in the cerebrospinal fluid of HIV-1-infected children by Gallo, P, Laverda, A M, De Rossi, A, Pagni, S, Del Mistro, A, Cogo, P, Piccinno, M G, Plebani, A, Tavolato, B, Chieco-Bianchi, L

“…Several immunological abnormalities were detected in the cerebrospinal fluid (CSF) of human immunodeficiency virus type 1 (HIV-1)-infected children…”
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Intracranial hypertension and cryptococcal meningitis in a girl with AIDS by Laverda, Anna Maria, Ruga, Ezia, Pagliaro, Alessandra, Pinello, Maria Luisa, Giaquinto, Carlo

“…A girl with HIV infection acquired at birth by blood transfusion, was admitted at the age of 10 years for diplopia, vomiting, headache and papilledema. CT scan…”
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Macrocephaly and chromosome disorders: a case report by Drigo, Paola, Carra`, Sabina, Laverda, Anna Maria, Artifoni, Lina

“…We report the case of a young patient with macrocephaly. After excluding the most frequent causes of macrocephaly (hereditary disorders, degenerative, osseous…”
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Occipital Plagiocephaly: A Study of 64 Cases by Stefani, S., Drigo, P., Faggin, R., Laverda, A.M.

“…After the “Back to Sleep” campaign, promoted in 1992 by the American Academy of Paediatrics to prevent the Sudden Infant Death Syndrome (SIDS), it was…”
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