Search Results - "Buccoliero, Rosaria"

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant by Dotti, Maria Teresa, Buccoliero, Rosaria, Lee, Andrew, Gorospe, J. Raphael, Flint, Daniel, Galluzzi, Paolo, Bianchi, Silvia, D’Eramo, Camilla, Naidu, Sakkubai, Federico, Antonio, Brenner, Michael

Get full text

Phospholipid synthesis is decreased in neuronal tissue in a mouse model of Sandhoff disease by Buccoliero, Rosaria, Bodennec, Jacques, Van Echten‐Deckert, Gerhild, Sandhoff, Konrad, Futerman, Anthony H.

“…Sandhoff disease is a progressive neurodegenerative disorder caused by mutations in the HEXB gene which encodes for the β‐subunit of β‐hexosaminidase A and B,…”
Get full text

Relapsing polychondritis presenting with sero-negative limbic encephalitis by Husein, Salman, Murayama, Yuna, Koo, Andrew, Wakefield, Michael, Buccoliero, Rosaria

“…The presented case highlights a rare instance of relapsing polychondritis (RP) manifesting as seronegative limbic encephalitis, an uncommon neurological…”
Get full text

A case of Parry–Romberg syndrome and alien hand by Chokar, Gurjit, Cerase, Alfonso, Gough, Andrew, Hasan, Sibte, Scullion, David, El-Sayeh, Hany, Buccoliero, Rosaria

“…Abstract Parry–Romberg syndrome (PRS) is a rare condition characterised by progressive hemi-facial atrophy. Here we present a PRS case with alien-hand…”
Get full text

Parkinson’s families project: a UK-wide study of early onset and familial Parkinson’s disease by Towns, Clodagh, Fang, Zih-Hua, Tan, Manuela M. X., Jasaityte, Simona, Schmaderer, Theresa M., Stafford, Eleanor J., Pollard, Miriam, Tilney, Russel, Hodgson, Megan, Wu, Lesley, Labrum, Robyn, Hehir, Jason, Polke, James, Lange, Lara M., Schapira, Anthony H. V., Bhatia, Kailash P., Singleton, Andrew B., Blauwendraat, Cornelis, Klein, Christine, Houlden, Henry, Wood, Nicholas W., Jarman, Paul R., Morris, Huw R., Real, Raquel

“…The Parkinson’s Families Project is a UK-wide study aimed at identifying genetic variation associated with familial and early-onset Parkinson’s disease (PD)…”
Get full text

The roles of ceramide and complex sphingolipids in neuronal cell function by Buccoliero, Rosaria, Futerman, Anthony H.

“…The roles of sphingolipids, and particularly of the complex glycosphingolipids (GSLs), the gangliosides, have been studied for many years in neurons, glia, and…”
Get full text

Lee Silverman Voice Treatment versus standard speech and language therapy versus control in Parkinson's disease: a pilot randomised controlled trial (PD COMM pilot) by Sackley, Catherine M, Smith, Christina H, Rick, Caroline E, Brady, Marian C, Ives, Natalie, Patel, Smitaa, Woolley, Rebecca, Dowling, Francis, Patel, Ramilla, Roberts, Helen, Jowett, Sue, Wheatley, Keith, Kelly, Debbie, Sands, Gina, Clarke, Carl E

“…Speech-related problems are common in Parkinson's disease (PD), but there is little evidence for the effectiveness of standard speech and language therapy…”
Get full text

Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting by Marino, Daniela, Vatti, Giampaolo, Rufa, Alessandra, Malandrini, Alessandro, Rocchi, Raffaele, Bracco, Sandra, Buccoliero, Rosaria, Federico, Antonio

“…Background Periodic lateralised epileptiform discharges (PLEDs) are EEG patterns consisting of periodic or pseudoperiodic unilateral, focal or hemispheric…”
Get full text

Relapsing polychondritis presenting with sero-negative limbic encephalitis by Husein, Salman, Murayama, Yuna, Koo, Andrew, Wakefield, Michael, Buccoliero, Rosaria

“…The presented case highlights a rare instance of relapsing polychondritis (RP) manifesting as seronegative limbic encephalitis, an uncommon neurological…”
Get more information

Transient periodic lateralised epileptiform discharges (PLEDs) following internal carotid artery stenting by Marino, Daniela, Vatti, Giampaolo, Rufa, Alessandra, Malandrini, Alessandro, Rocchi, Raffaele, Bracco, Sandra, Buccoliero, Rosaria, Federico, Antonio

“…Background. Periodic lateralised epileptiform discharges (PLEDs) are EEG patterns consisting of periodic or pseudoperiodic unilateral, focal or hemispheric…”
Get full text

A case of dystonia with onset during pregnancy by Buccoliero, Rosaria, Palmeri, Silvia, Malandrini, Alessandro, Dotti, Maria Teresa, Federico, Antonio

“…Abstract We report the clinical and therapeutic approach of a case of ‘dystonia gravidarum’. The patient came to our observation with neck and bilateral feet…”
Get full text

Transient supranuclear paresis of the abduction in viral encephalitis of the brainstem by Rufa, Alessandra, Cerase, Alfonso, Annunziata, Pasquale, De Santi, Lorenzo, Buccoliero, Rosaria, Monti, Lucia, Federico, Antonio

“…The supranuclear paresis of the abducens system, also known as posterior internuclear ophthalmoplegia of abduction, is a very rare disorder clinically…”
Get full text

The role of sphingolipids in neuronal development: Lessons from models of sphingolipid storage diseases by BUCCOLIERO, Rosaria, BODENNEC, Jacques, FUTERMAN, Anthony H

“…The study of sphingolipids has undergone a renaissance over the past decade due to the realization that these lipids are involved in a variety a biological…”
Get full text

An infantile case of Alexander disease unusual for its MRI features and a GFAP allele carrying both the p.Arg79His mutation and the p.Glu223Gln coding variant by Dotti, Maria Teresa, Buccoliero, Rosaria, Lee, Andrew, Gorospe, J Raphael, Flint, Daniel, Galluzzi, Paolo, Bianchi, Silvia, D'Eramo, Camilla, Naidu, Sakkubai, Federico, Antonio, Brenner, Michael

Get full text