Search Results - "MORONI, I"

CMT subtypes and disease burden in patients enrolled in the Inherited Neuropathies Consortium natural history study: a cross-sectional analysis by Fridman, V, Bundy, B, Reilly, M M, Pareyson, D, Bacon, C, Burns, J, Day, J, Feely, S, Finkel, R S, Grider, T, Kirk, C A, Herrmann, D N, Laurá, M, Li, J, Lloyd, T, Sumner, C J, Muntoni, F, Piscosquito, G, Ramchandren, S, Shy, R, Siskind, C E, Yum, S W, Moroni, I, Pagliano, E, Zuchner, S, Scherer, S S, Shy, M E

“…BackgroundThe international Inherited Neuropathy Consortium (INC) was created with the goal of obtaining much needed natural history data for patients with…”
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Adult Autism Subthreshold Spectrum (AdAS Spectrum): Validation of a questionnaire investigating subthreshold autism spectrum by Dell'Osso, L, Gesi, C, Massimetti, E, Cremone, I.M, Barbuti, M, Maccariello, G, Moroni, I, Barlati, S, Castellini, G, Luciano, M, Bossini, L, Rocchetti, M, Signorelli, M, Aguglia, E, Fagiolini, A, Politi, P, Ricca, V, Vita, A, Carmassi, C, Maj, M

“…Abstract Aim Increasing literature has shown the usefulness of a dimensional approach to autism. The present study aimed to determine the psychometric…”
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Intrafamilial Phenotypic Variability In Andersen-Tawil Syndrome: A Diagnostic Challenge In A Potentially Treatable Condition by Ardissone, A, Sansone, V, Colleoni, L, Bernasconi, P, Moroni, I

“…Highlights • ATS presents with a high phenotypic variability: diagnosis is still challenging • Facial dysmorphisms should be a clue towards the diagnosis •…”
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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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Revisiting mitochondrial ocular myopathies: a study from the Italian Network by Orsucci, D., Angelini, C., Bertini, E., Carelli, V., Comi, G. P., Federico, A., Minetti, C., Moggio, M., Mongini, T., Santorelli, F. M., Servidei, S., Tonin, P., Ardissone, A., Bello, L., Bruno, C., Ienco, E. Caldarazzo, Diodato, D., Filosto, M., Lamperti, C., Moroni, I., Musumeci, O., Pegoraro, E., Primiano, G., Ronchi, D., Rubegni, A., Salvatore, S., Sciacco, M., Valentino, M. L., Vercelli, L., Toscano, A., Zeviani, M., Siciliano, G., Mancuso, M.

“…Ocular myopathy, typically manifesting as progressive external ophthalmoplegia (PEO), is among the most common mitochondrial phenotypes. The purpose of this…”
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Clinical and molecular findings in children with complex I deficiency by Bugiani, M., Invernizzi, F., Alberio, S., Briem, E., Lamantea, E., Carrara, F., Moroni, I., Farina, L., Spada, M., Donati, M.A., Uziel, G., Zeviani, M.

“…Isolated complex I deficiency, the most frequent OXPHOS disorder in infants and children, is genetically heterogeneous. Mutations have been found in seven…”
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Phenotypic clustering of lamin A/C mutations in neuromuscular patients by BENEDETTI, S, MENDITTO, I, MORANDI, L, MORONI, I, GALLUZZI, G, BERTINI, E, TOSCANO, A, OLIVE, M, BONNE, G, MARI, F, CALDARA, R, FAZIO, R, DEGANO, M, MAMMI, I, CARRERA, P, TONIOLO, D, COMI, G, QUATTRINI, A, FERRARI, M, PREVITALI, S. C, RODOLICO, C, MERLINI, L, D'AMICO, A, PALMUCCI, L, BERARDINELLI, A, PEGORARO, E, TREVISAN, C. P

“…Mutations in the LMNA gene, encoding human lamin A/C, have been associated with an increasing number of disorders often involving skeletal and cardiac muscle,…”
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Gait pattern classification in children with Charcot–Marie–Tooth disease type 1A by Ferrarin, M, Bovi, G, Rabuffetti, M, Mazzoleni, P, Montesano, A, Pagliano, E, Marchi, A, Magro, A, Marchesi, C, Pareyson, D, Moroni, I

“…Abstract Gait pattern classification may assist in clinical decision making and cluster analysis (CA) has been often adopted to this aim. The goal of this…”
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Non-coding VMA21 deletions cause X-linked Myopathy with Excessive Autophagy by Ruggieri, A, Ramachandran, N, Wang, P, Haan, E, Kneebone, C, Manavis, J, Morandi, L, Moroni, I, Blumbergs, P, Mora, M, Minassian, B.A

“…Highlights • XMEA mutations to date are single-nucleotide changes reducing VMA21 expression. • We now report 2 new non-coding microdeletions reducing VMA21…”
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Responsiveness of gait parameters to changes in locomotor impairments induced by CMT disease: A 12 months follow-up study by Lencioni, T, Rabuffetti, M, Moroni, I, Pagliano, E, Pareyson, D, Piscosquito, G, Ferrarin, M

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GJA12 mutations in children with recessive hypomyelinating leukoencephalopathy by BUGIANI, M, AL SHAHWAN, S, LAMANTEA, E, BIZZI, A, BAKHSH, E, MORONI, I, BALESTRINI, M. R, UZIEL, G, ZEVIANI, M

“…Pelizaeus-Merzbacher-like disease (PMLD) is an inherited hypomyelinating leukoencephalopathy with onset in early infancy. Like Pelizaeus-Merzbacher disease…”
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L-2-hydroxyglutaric aciduria and brain malignant tumors: A predisposing condition? by MORONI, I, BUGIANI, M, D'INCERTI, L, MACCAGNANO, C, RIMOLDI, M, BISSOLA, L, POLLO, B, FINOCCHIARO, G, UZIEL, G

“…L-2-hydroxyglutaric aciduria is a rare metabolic encephalopathy displaying a subcortical leukoencephalopathy on MRI. Diagnosis rests on detection of an…”
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Novel POMGNT1 point mutations and intragenic rearrangements associated with muscle-eye-brain disease by Saredi, S, Ardissone, A, Ruggieri, A, Mottarelli, E, Farina, L, Rinaldi, R, Silvestri, E, Gandioli, C, D'Arrigo, S, Salerno, F, Morandi, L, Grammatico, P, Pantaleoni, C, Moroni, I, Mora, M

“…Abstract Congenital muscular dystrophies due to defects in genes encoding proteins involved in α-dystroglycan (α-DG) glycosylation are a heterogeneous group of…”
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Respiratory and cardiac function in congenital muscular dystrophies with alpha dystroglycan deficiency by Pane, M, Messina, S, Vasco, G, Foley, A.R, Morandi, L, Pegoraro, E, Mongini, T, D’Amico, A, Bianco, F, Lombardo, M.E, Scalise, R, Bruno, C, Berardinelli, A, Pini, A, Moroni, I, Mora, M, Toscano, A, Moggio, M, Comi, G, Santorelli, F.M, Bertini, E, Muntoni, F, Mercuri, E

“…Abstract The aim of this retrospective study was to assess respiratory and cardiac function in a large cohort of patients with congenital muscular dystrophies…”
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A fourth case of POMT2-related limb girdle muscle dystrophy with mild reduction of α-dystroglycan glycosylation by Saredi, S, Gibertini, S, Ardissone, A, Fusco, I, Zanotti, S, Blasevich, F, Morandi, L, Moroni, I, Mora, M

“…Abstract Background POMT2 mutations have been identified in Walker–Warburg syndrome or muscle–eye–brain-like, but rarely in limb girdle muscular dystrophy…”
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G.P.170 by Pasanisi, M.B, Vai, S, Baranello, G, Maggi, L, Moroni, I, Arnoldi, M.T, Bussolino, C, Brenna, G, Bianchi, M.L, Morandi, L

“…Individuals affected with Duchenne muscular dystrophy (DMD) show significantly altered whole-body composition compared with normal control population. We…”
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Reliability of instrumented movement analysis as outcome measure in Charcot–Marie–Tooth disease: Results from a multitask locomotor protocol by Ferrarin, M, Bovi, G, Rabuffetti, M, Mazzoleni, P, Montesano, A, Moroni, I, Pagliano, E, Marchi, A, Marchesi, C, Beghi, E, Pareyson, D

“…Abstract Some neurodegenerative diseases at early stage may not drastically affect basic gait ability, whereas more demanding locomotor tasks are more prone to…”
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Classification of Childhood White Matter Disorders Using Proton MR Spectroscopic Imaging by Bizzi, A, Castelli, G, Bugiani, M, Barker, P.B, Herskovits, E.H, Danesi, U, Erbetta, A, Moroni, I, Farina, L, Uziel, G

“…Childhood white matter disorders often show similar MR imaging signal-intensity changes, despite different underlying pathophysiologies. The purpose of this…”
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Congenital muscular dystrophies with cognitive impairment: A population study by MESSINA, S, BRUNO, C, MINETTI, C, MOGGIO, M, MONGINI, T, MOTTARELLI, E, PANE, M, PANTALEONI, C, PICHIECCHIO, A, PINI, A, RICCI, E, SAREDI, S, MORONI, I, SFRAMELI, M, TORTORELLA, G, TOSCANO, A, TREVISAN, C. P, UGGETTI, C, VASCO, G, COMI, G. P, SANTORELLI, F. M, BERTINI, E, MERCURI, E, PEGORARO, E, D'AMICO, A, BIANCHERI, R, BERARDINELLI, A, BOFFI, P, CASSANDRINI, D, FARINA, L

“…Cognitive impairment has been reported in a significant proportion of patients with congenital muscular dystrophies (CMD), generally associated with brain…”
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Natural history of CMT disease: A 18 months follow-up study through gait analysis by Lencioni, T, Rabuffetti, M, Bovi, G, Marchesi, C, Pagliano, E, Moroni, I, Pareyson, D, Ferrarin, M

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