Search Results - "Garavaglia, B."

Restless Legs Syndrome in NKX2-1-related chorea: An expansion of the disease spectrum by Iodice, A., Carecchio, M., Zorzi, G., Garavaglia, B., Spagnoli, C., Salerno, G.G., Frattini, D., Mencacci, N.E., Invernizzi, F., Veneziano, L., Mantuano, E., Angriman, M., Fusco, C.

“…Molecular technologies are expanding our knowledge about genetic variability underlying early-onset non-progressive choreic syndromes. Focusing on…”
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Clinical Experience of Neurological Mitochondrial Diseases in Children and Adults: A Single-Center Study by Rogac, M, Neubauer, D, Leonardis, L, Pecaric, N, Meznaric, M, Maver, A, Sperl, W, Garavaglia, BM, Lamantea, E, Peterlin, B

“…The goal of the study was to retrospectively evaluate a cohort of children and adults with mitochondrial diseases (MDs) in a single-center experience…”
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R106C TFG variant causes infantile neuroaxonal dystrophy “plus” syndrome by Catania, A., Battini, R., Pippucci, T., Pasquariello, R., Chiapparini, M. L., Seri, M., Garavaglia, B., Zorzi, G., Nardocci, N., Ghezzi, D., Tiranti, V.

“…TFG (tropomyosin-receptor kinase fused gene) encodes an essential protein in the regulation of vesicular trafficking between endoplasmic reticulum and Golgi…”
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Corrigendum to “Restless legs syndrome in NKX2-1-related chorea: An expansion of the disease spectrum” [Brain Dev. 41 (2019) 250–256] by Iodice, A., Carecchio, M., Zorzi, G., Garavaglia, B., Spagnoli, C., Salerno, G.G., Frattini, D., Mencacci, N.E., Invernizzi, F., Veneziano, L., Mantuano, E., Angriman, M., Fusco, C.

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Non-nutritive sweeteners: children and adolescent consumption and food sources by Garavaglia, María B, Rodríguez García, Vanesa, Zapata, María E, Rovirosa, Alicia, González, Verónica, Flax Marcó, Florencia, Carmuega, Esteban

“…The availability of food and beverages with non-nutritive sweeteners (NNSs) has increased in recent years. To estimate NNSs consumption among children and…”
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SUSCEPTIBILITY TO DYT1 DYSTONIA IN EUROPEAN PATIENTS IS MODIFIED BY THE D216H POLYMORPHISM by KAMM, C, FISCHER, H, KUPSCH, A, NARDOCCI, N, GASSER, T, GARAVAGLIA, B, KULLMANN, S, SHARMA, M, SCHRADER, C, GRUNDMANN, K, KLEIN, C, BORGGRÄFE, I, LOBSIE, E

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P1027: Neurophysiological findings in patients with ceroid lipofuscinosis due to CLN6 mutations by Canafoglia, L, Gilioli, I, Granata, T, Binelli, S, Garavaglia, B, Berkovic, S, Nardocci, N, Franceschetti, S

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Establishing a human neuronal derived-iPSC model to clarify the pathogenetic mechanism for PKAN by Orellana Riquelme, D, Santambrogio, P, Rubio Garrido, A, Cancellieri, C, Venco, P, Taverna, S, Tiranti, V, Garavaglia, B, Broccoli, V, Levi, S

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The "eye-of-the-tiger" sign may be absent in the early stages of classic pantothenate kinase associated neurodegeneration by Chiapparini, L, Savoiardo, M, D'Arrigo, S, Reale, C, Zorzi, G, Zibordi, F, Cordelli, D M, Franzoni, E, Garavaglia, B, Nardocci, N

“…Pantothenate kinase-associated neurodegeneration (PKAN) is a rare disorder associated with brain iron accumulation. The brain MRI abnormality consists of T2…”
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Imaging of dopaminergic dysfunction with [123I]FP-CIT SPECT in early-onset parkin disease by VARRONE, A, PELLECCHIA, M. T, DE MICHELE, G, SALVATORE, M, PAPPATA, S, BARONE, P, AMBONI, M, SANSONE, V, SALVATORE, E, GHEZZI, D, GARAVAGLIA, B, BRICE, A, BRUNETTI, A, BONAVITA, V

“…To investigate whether the presence of parkin gene mutations is associated with different nigrostriatal impairment than other early-onset parkinsonism…”
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P2.062 MLPA analysis in EOP patients by Barzaghi, C, Giovanetti, A, Reale, C, Sequeiros, J, Nardocci, N, Albanese, A, Garavaglia, B

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P3.030 GBA mutations and Parkinson disease in Italian population by D'Angelo, R, Barzaghi, C, Giovanetti, A, Albanese, A, Goldwurm, S, Garavaglia, B

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Infantile neuroaxonal dystrophy and pantothenate kinase-associated neurodegeneration locus heterogeneity by HÖRTNAGEL, K, NARDOCCI, N, ZORZI, G, GARAVAGLIA, B, BOTZ, E, MEITINGER, T, KLOPSTOCK, T

“…Common clinical, radiologic, and pathologic features in infantile neuroaxonal dystrophy (INAD) and pantothenate kinase-associated neurodegeneration (PKAN) have…”
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Trends in use of ezetimibe after the ENHANCE trial, 2007 through 2010 by Ross, Joseph S, Frazee, Sharon G, Garavaglia, Susan B, Levin, Rebecca, Novshadian, Haik, Jackevicius, Cynthia A, Stettin, Glen, Krumholz, Harlan M

“…Results from the Ezetimibe and Simvastatin in Hypercholesterolemia Enhances Atherosclerosis Regression (ENHANCE) trial, announced in January 2008, demonstrated…”
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G.P.3.12 Riboflavin-Responsive multiple Acyl-CoA dehydrogenation deficiency (MADD-RR): Clinical, biochemical, molecular genetic and 31 P-MRS studies by Toscano, A, Nishino, I, Garavaglia, B, Musumeci, O, Lodi, R, Barbiroli, B, Liang, W.C, Vita, G

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Neonatal dopa-responsive extrapyramidal syndrome in twins with recessive GTPCH deficiency by NARDOCCI, N, ZORZI, G, BLAU, N, FERNANDEZ ALVAREZ, E, SESTA, M, ANGELINI, L, PANNACCI, M, INVERNIZZI, F, GARAVAGLIA, B

“…The authors report two twin sisters, age 15 years, with recessive GTP cyclohydrolase deficiency, who presented with neonatal onset of rigidity, tremor, and…”
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Is there a relationship between early statin compliance and a reduction in healthcare utilization? by Aubert, Ronald E, Yao, Jianying, Xia, Fang, Garavaglia, Susan B

“…To investigate whether compliance during the first 2 years of statin therapy is associated with reduced hospitalization rates and direct medical costs during…”
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Adult diagnosis of Cockayne syndrome

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MRI Findings in Patients with Clinical Onset Consistent with Infantile Neuroaxonal Dystrophy (INAD), Literature Review, Clinical and MRI Follow-up by Bernardi, B., Pini, A., Santucci, M., Cenacchi, C., Garavaglia, B., Ucchino, V., Garrone, C., Guerra, A., Faggioli, R., Barzaghi, C., Preda, P., Franzoni, E., Gobbi, G., Parmeggiani, A.

“…Infantile neuroaxonal dystrophy (INAD) is a rare autosomal recessive neurodegenerative disorder characterized by infantile onset and rapid progression of…”
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GTP‐cyclohydrolase I gene mutations in patients with autosomal dominant and recessive GTP‐CH1 deficiency: Identification and functional characterization of four novel mutations by Garavaglia, B., Invernizzi, F., Carbone, M. L. Agostoni, Viscardi, V., Saracino, F., Ghezzi, D., Zeviani, M., Zorzi, G., Nardocci, N.

“…GTP‐cyclohydrolase I (GTP‐CH1, EC 3.5.4.16) is encoded by the GCH1 gene. Mutations in the GCH1 gene cause both dopa‐responsive dystonia (McKusick 128230) and…”
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