Search Results - "Baschirotto, Cinzia"

Switching opioid-dependent patients in substitution treatment from racemic methadone, levomethadone and buprenorphine to slow-release oral morphine: Analysis of the switching process in routine care by Baschirotto, Cinzia, Lehmann, Kirsten, Kuhn, Silke, Reimer, Jens, Verthein, Uwe

“…Since 2015 slow-release oral morphine (SROM) is approved for opioid substitution treatment (OST) in Germany. The SROMOS study (efficacy and tolerability of…”
Get full text

Aberrant salience relationship with first rank symptoms by Ballerini, Andrea, Tortorelli, Marta, Marino, Paolo, Appignanesi, Cristina, Baschirotto, Cinzia, Mallardo, Luca, Tofani, Tommaso, Pietrini, Francesco, D'Anna, Giulio, Rossi, Andrea, Ricca, Valdo, Santella, Marina

“…Aberrant salience is the incorrect assignment of salience, significance, or value to different innocuous stimuli that might precede the onset of psychotic…”
Get full text

A novel mutation in the β‐tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance by ROMANIELLO, ROMINA, TONELLI, ALESSANDRA, ARRIGONI, FILIPPO, BASCHIROTTO, CINZIA, TRIULZI, FABIO, BRESOLIN, NEREO, BASSI, MARIA TERESA, BORGATTI, RENATO

“…Neurological disorders characterized by abnormal neuronal migration, organization, axon guidance, and maintenance have recently been associated with missense…”
Get full text

Brain malformations and mutations in α‐ and β‐tubulin genes: a review of the literature and description of two new cases by Romaniello, Romina, Arrigoni, Filippo, Cavallini, Anna, Tenderini, Erika, Baschirotto, Cinzia, Triulzi, Fabio, Bassi, Maria‐Teresa, Borgatti, Renato

“…Aim The aim of this study was to determine the frequency of mutations in tubulin genes (TUBB2B, TUBA1A, and TUBB3) in patients with malformations of cortical…”
Get full text

EMA must improve the quality of its clinical trial reports by Barbui, Corrado, Baschirotto, Cinzia, Cipriani, Andrea

“…Corrado Barbui, Cinzia Baschirotto, and Andrea Cipriani find that the results of phase III studies are poorly and inconsistently documented in the EMA’s drug…”
Get full text

A wide spectrum of clinical, neurophysiological and neuroradiological abnormalities in a family with a novel CACNA1A mutation by Romaniello, Romina, Zucca, Claudio, Tonelli, Alessandra, Bonato, Sara, Baschirotto, Cinzia, Zanotta, Nicoletta, Epifanio, Roberta, Righini, Andrea, Bresolin, Nereo, Bassi, Maria T, Borgatti, Renato

“…BackgroundMutations in the calcium channel voltage dependent P/Q-type α-1A subunit (CACNA1A) can cause different neurological disorders which share a wide…”
Get full text

The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K by Crimella, C, Tonelli, A, Airoldi, G, Baschirotto, C, D'Angelo, M G, Bonato, S, Losito, L, Trabacca, A, Bresolin, N, Bassi, M T

“…Mutations in GDAP1 associate with demyelinating (CMT4A) and axonal (CMT2K) forms of CMT. While CMT4A shows recessive inheritance, CMT2K can present with either…”
Get more information

Considerations on a mutation in the NOTCH3 gene sparing a cysteine residue: a rare polymorphism rather than a CADASIL variant by Bersano, Anna, Ranieri, Michela, Ciammola, Andrea, Cinnante, Claudia, Lanfranconi, Silvia, Dotti, Maria Teresa, Candelise, Livia, Baschirotto, Cinzaia, Ghione, Isabella, Ballabio, Elena, Bresolin, Nereo, Bassi, Maria Teresa

“…Some missense mutations and small deletions in the NOTCH3 gene, not involving cysteine residues, have been described in patients considered to be affected by…”
Get full text

Substitution treatment for opioid dependence with slow-release oral morphine: Retention rate, health status, and substance use after switching to morphine by Lehmann, Kirsten, Kuhn, Silke, Baschirotto, Cinzia, Jacobsen, Britta, Walcher, Stephan, Görne, Herbert, Backmund, Markus, Scherbaum, Norbert, Reimer, Jens, Verthein, Uwe

“…Since April 2015, slow-release oral morphine (SROM) has been approved for opioid agonist treatment (OAT) in Germany. Experimental studies show that benefits of…”
Get full text

A case-control and family-based association study of the 5-HTTLPR in pediatric-onset depressive disorders by Nobile, Maria, Cataldo, Maria Giulia, Giorda, Roberto, Battaglia, Marco, Baschirotto, Cinzia, Bellina, Monica, Marino, Cecilia, Molteni, Massimo

“…Pediatric depression can be particularly informative for clarification of the causes of mood disorders. The aim of this work was to explore the possible…”
Get full text

Ocular albinism: evidence for a defect in an intracellular signal transduction system by Schiaffino, M. Vittoria, d'Addio, Marilena, Alloni, Anna, Baschirotto, Cinzia, Valetti, Caterina, Cortese, Katia, Puri, Claudia, Bassi, M. Teresa, Colla, Cristina, De Luca, Michele, Tacchetti, Carlo, Ballabio, Andrea

“…G protein-coupled receptors (GPCRs) participate in the most common signal transduction system at the plasma membrane. The wide distribution of heterotrimeric G…”
Get full text

Defective intracellular transport and processing of OA1 is a major cause of ocular albinism type 1 by D'ADDIO, Marilena, PIZZIGONI, Alessandro, BASSI, Maria Teresa, BASCHIROTTO, Cinzia, VALETTI, Caterina, INCERTI, Barbara, CLEMENTI, Maurizio, DE LUCA, Michele, BALLABIO, Andrea, SCHIAFFINO, Maria Vittoria

“…Ocular albinism type 1 (OA1) is an X-linked disorder mainly characterized by a severe reduction of visual acuity, hypopigmentation of the retina and the…”
Get full text

The Ocular Albinism Type 1 Gene Product is a Membrane Glycoprotein Localized to Melanosomes by Schiaffino, M. Vittoria, Baschirotto, Cinzia, Pellegrini, Graziella, Montalti, Simona, Tacchetti, Carlo, De Luca, Michele, Ballabio, Andrea

“…Ocular albinism type 1 (OA1) is an inherited disorder characterized by severe reduction of visual acuity, photophobia, and retinal hypopigmentation…”
Get full text

Effective retrovirus-mediated gene transfer in normal and mutant human melanocytes by Schiaffino, Maria Vittoria, Dellambra, Elena, Cortese, Katia, Baschirotto, Cinzia, Bondanza, Sergio, Clementi, Maurizio, Nucci, Paolo, Ballabio, Andrea, Tacchetti, Carlo, De Luca, Michele

“…Melanocytes represent the second most important cell type in the skin and are primarily responsible for the pigmentation of skin, hair, and eyes. Their…”
Get more information

Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia by Crippa, Francesca, Panzeri, Chris, Martinuzzi, Andrea, Arnoldi, Alessia, Redaelli, Francesca, Tonelli, Alessandra, Baschirotto, Cinzia, Vazza, Giovanni, Mostacciuolo, Maria Luisa, Daga, Andrea, Orso, Genny, Profice, Paolo, Trabacca, Antonio, D'Angelo, Maria Grazia, Comi, Giacomo Pietro, Galbiati, Sara, Lamperti, Costanza, Bonato, Sara, Pandolfo, Massimo, Meola, Giovanni, Musumeci, Olimpia, Toscano, Antonio, Trevisan, Carlo Pietro, Bresolin, Nereo, Bassi, Maria Teresa

“…Hereditary spastic paraplegia (HSP) is a group of genetically heterogeneous disorders characterized by progressive spasticity of the lower limbs. Mutations in…”
Get more information

Cryptogenic epileptic syndromes related to SCN1A: twelve novel mutations identified by Zucca, Claudio, Redaelli, Francesca, Epifanio, Roberta, Zanotta, Nicoletta, Romeo, Antonino, Lodi, Monica, Veggiotti, Pierangelo, Airoldi, Giovanni, Panzeri, Chris, Romaniello, Romina, De Polo, Gianni, Bonanni, Paolo, Cardinali, Simonetta, Baschirotto, Cinzia, Martorell, Loreto, Borgatti, Renato, Bresolin, Nereo, Bassi, Maria Teresa

“…Sodium channel alpha 1 subunit gene, SCN1A, is the gene encoding the neuronal voltage-gated sodium channel alpha 1 subunit (Na(v)1.1) and is mutated in…”
Get more information

A novel mutation in the β-tubulin gene TUBB2B associated with complex malformation of cortical development and deficits in axonal guidance by ROMANIELLO, ROMINA, TONELLI, ALESSANDRA, ARRIGONI, FILIPPO, BASCHIROTTO, CINZIA, TRIULZI, FABIO, BRESOLIN, NEREO, BASSI, MARIA TERESA, BORGATTI, RENATO

Get full text