Dotti, Maria T. : rechercher sur Z-Library

Mignarri, Andrea, Gallus, Gian Nicola, Dotti, Maria Teresa, Federico, Antonio

Journal:

Sex Roles

Année:

2016

Langue:

english

Fichier:

PDF, 464 KB

english, 2016

A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis

Journal:

Journal of Inherited Metabolic Disease

Année:

2014

Langue:

english

Fichier:

PDF, 315 KB

english, 2014

Within-Couple Inequality in Earnings and the Relative Motherhood Penalty. A Cross-National Study of European Countries

European Sociological Review

Journal:

Année:

2015

Langue:

english

Fichier:

PDF, 345 KB

english, 2015

Discordant manifestations in Italian brothers with GNE myopathy

Dotti, Maria-Teresa, Malandrini, Alessandro, Lornage, Xavière, Mignarri, Andrea, Cantisani, Teresa Anna, Bohm, Johann, Laporte, Jocelyn, Malfatti, Edoardo

Journal:

Journal of the Neurological Sciences

Année:

2018

Langue:

english

Fichier:

PDF, 414 KB

english, 2018

Selective ipsilateral neuromuscular involvement in a case of facial and somatic hemiatrophy

Alessandro Malandrini, Maria Teresa Dotti, Antonio Federico

Journal:

Muscle & Nerve

Année:

1997

Langue:

english

Fichier:

PDF, 213 KB

english, 1997

McLeod syndrome and neuroacanthocytosis with a novel mutation in the XK gene

Maria Teresa Dotti, Carla Battisti, Alessandro Malandrini, Antonio Federico, Justin P. Rubio, Giuseppe Circiarello, Anthony P. Monaco

Journal:

Riccardo Della Nave, Andrea Ginestroni, Carlo Tessa, Mirco Cosottini, Marco Giannelli, Elena Salvatore, Ferdinando Sartucci, Giuseppe De Michele, Maria Teresa Dotti, Silvia Piacentini, Mario Mascalchi

Année:

2000

Langue:

english

Fichier:

PDF, 5.12 MB

english, 2000

Brain structural damage in spinocerebellar ataxia type 2. A voxel-based morphometry study

Journal:

Maria Luiza Leite, Isabel Dotti de Miatello

Année:

2008

Langue:

english

Fichier:

PDF, 154 KB

english, 2008

A geometric property of central elements

Journal:

Mathematische Zeitschrift

Année:

1980

Langue:

english

Fichier:

PDF, 87 KB

english, 1980

Lipid changes in the aged brain: Effect on synaptic function and neuronal survival

María Dolores Ledesma, Mauricio G. Martin, Carlos G. Dotti

Journal:

Progress in Lipid Research

Année:

2012

Langue:

english

Fichier:

PDF, 613 KB

english, 2012

Mutations inB9D1andMKS1cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

Romani, Marta, Micalizzi, Alessia, Kraoua, Ichraf, Dotti, Maria, Cavallin, Mara, Sztriha, László, Ruta, Rosario, Mancini, Francesca, Mazza, Tommaso, Castellana, Stefano, Hanene, Benrhouma, Carluccio,

Journal:

Orphanet Journal of Rare Diseases

Année:

2014

Langue:

english

Fichier:

PDF, 564 KB

english, 2014

Nicolaides–Baraitser syndrome: defining a phenotype

Pretegiani, Elena, Mari, Francesca, Renieri, Alessandra, Penco, Silvana, Dotti, Maria Teresa

Journal:

Ginanneschi, Federica, Mignarri, Andrea, Lucchiari, Sabrina, Ulzi, Gianna, Comi, Giacomo P., Rossi, Alessandro, Dotti, Maria Teresa

Année:

2016

Langue:

english

Fichier:

PDF, 328 KB

english, 2016

Neuromuscular excitability changes produced by sustained voluntary contraction and response to mexiletine in myotonia congenita

Journal:

Neurophysiologie Clinique/Clinical Neurophysiology

Année:

2017

Fichier:

PDF, 674 KB

2017

The economic crisis and changes in work–family arrangements in six European countries

Journal of European Social Policy

Journal:

Année:

2017

Langue:

english

Fichier:

PDF, 768 KB

english, 2017

[SpringerBriefs in Sociology] Time Use in Domestic Settings Throughout the Life Course || Domestic Work Among Children, Teenagers, and Young Adults

Année:

2018

Langue:

english

Fichier:

PDF, 252 KB

english, 2018

[SpringerBriefs in Sociology] Time Use in Domestic Settings Throughout the Life Course ||

Année:

2018

Langue:

english

Fichier:

PDF, 2.33 MB

english, 2018

[SpringerBriefs in Sociology] Time Use in Domestic Settings Throughout the Life Course || The Italian Time Use Survey

Année:

2018

Langue:

english

Fichier:

PDF, 479 KB

english, 2018

[SpringerBriefs in Sociology] Time Use in Domestic Settings Throughout the Life Course || Theoretical Background

Battisti, Carla, Dotti, Maria T., Malandrini, Alessandro, Pezzella, Francesco, Bardelli, Anna M., Federico, Antonio

Année:

2018

Langue:

english

Fichier:

PDF, 274 KB

english, 2018

The analysis of myotonia congenita mutations discloses functional clusters of amino acids within CBS2 domain and C-terminal peptide of ClC-1 channel

Altamura, Concetta, Lucchiari, Sabrina, Sahbani, Dalila, Ulzi, Gianna, Comi, Giacomo P., D'Ambrosio, Paola, Petillo, Roberta, Politano, Luisa, Vercelli, Liliana, Mongini, Tiziana, Dotti, Maria Teresa,

Journal:

Human Mutation

Année:

2018

Langue:

english

Fichier:

PDF, 2.15 MB

english, 2018

Neurophthalmologic and Orthoptic Ambulatory Assessments Reveal Ocular and Visual Changes in Patients With Early Alzheimer and Parkinson's Disease

Bargagli, Alessia, Fontanelli, Enrica, Zanca, Dario, Castelli, Ilaria, Rosini, Francesca, Maddii, Silvia, Di Donato, Ilaria, Carluccio, Alessandra, Battisti, Carla, Tosi, Gian M., Dotti, Maria T., Ruf

Journal:

Frontiers in Neurology

Année:

2020

Fichier:

PDF, 676 KB

2020

Schnyder corneal crystalline dystrophy: Description of a new family with evidence of abnormal lipid storage in skin fibroblasts

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 403 KB

english, 1998

Mosaicism for full mutation and normal-sized allele of the FMR1 gene: A new case

Orrico, Alfredo, Galli, Lucia, Dotti, Maria Teresa, Plewnia, Katrin, Censini, Stefano, Federico, Antonio

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 175 KB

english, 1998

Chorein detection for the diagnosis of chorea-acanthocytosis

Carol Dobson-Stone, Antonio Velayos-Baeza, Lea A. Filippone, Sarah Westbury, Alexander Storch, Torsten Erdmann, Stephen J. Wroe, Klaus L. Leenders, Anthony E. Lang, Maria Teresa Dotti, Antonio Federic

Journal:

Annals of Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 147 KB

english, 2004

The ND1 gene of complex I is a mutational hot spot for Leber's hereditary optic neuropathy

Maria Lucia Valentino, Piero Barboni, Anna Ghelli, Laura Bucchi, Chiara Rengo, Alessandro Achilli, Antonio Torroni, Alessandra Lugaresi, Raffaele Lodi, Bruno Barbiroli, MariaTeresa Dotti, Antonio Fede

Journal:

Annals of Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 600 KB

english, 2004

Muscle mitochondrial changes in cerebrotendinous xanthomatosis

Antonio Federico, Maria Teresa Dotti, Nila Volpi

Journal:

Annals of Neurology

Année:

1991

Langue:

english

Fichier:

PDF, 249 KB

english, 1991

Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

Paola S. Denora, David Schlesinger, Carlo Casali, Fernando Kok, Alessandra Tessa, Amir Boukhris, Hamid Azzedine, Maria Teresa Dotti, Claudio Bruno, Jeremy Truchetto, Roberta Biancheri, Estelle Fedirko

Journal:

Human Mutation

Année:

2009

Langue:

english

Fichier:

PDF, 842 KB

english, 2009

Physiology and pathology of notch signalling system

Silvia Bianchi, Maria Teresa Dotti, Antonio Federico

Journal:

Journal of Cellular Physiology

Année:

2006

Langue:

english

Fichier:

PDF, 185 KB

english, 2006

Apoptosis in CADASIL: An in vitro study of lymphocytes and fibroblasts from a cohort of Italian patients

Patrizia Formichi, Elena Radi, Carla Battisti, Giuseppe Di Maio, Ermelinda Tarquini, Alessandra Leonini, Anna Di Stefano, Maria Teresa Dotti, Antonio Federico

Journal:

Journal of Cellular Physiology

Année:

2009

Langue:

english

Fichier:

PDF, 500 KB

english, 2009

Adult onset Niemann-Pick type C disease: A clinical, neuroimaging and molecular genetic study

Carla Battisti, Patrizla Tarugi, Maria Teresa Dotti, Nicola De Stefano, Angelo Vattimo, Francesea Chierichetti, Sebastiano Calandra, Antonio Federico

Journal:

Maria Teresa Dotti, Antonio Federico

Année:

2003

Langue:

english

Fichier:

PDF, 238 KB

english, 2003

Amiodarone-induced parkinsonism: A case report and pathogenetic discussion

Journal:

Isabel Dotti, Maria J. Druetta

Année:

1995

Langue:

english

Fichier:

PDF, 176 KB

english, 1995

Negatively curved homogeneous Osserman spaces

Journal:

Differential Geometry and its Applications

Année:

1999

Langue:

english

Fichier:

PDF, 979 KB

english, 1999

Endocytosis of NBD-Sphingolipids in Neurons: Exclusion from Degradative Compartments and Transport to the Golgi Complex

Teresa Babià, Maria Dolores Ledesma, Rainer Saffrich, Jan Willem Kok, Carlos G. Dotti, Gustavo Egea

Journal:

Traffic

Année:

2001

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2001

Negative selection of peripheral blood stem cells to support a tandem autologous transplantation programme in multiple myeloma

Anna Maria Barbui, Monica Galli, Gianpietro Dotti, Nadia Belli, Gianmaria Borleri, Giovanna Gritti, Piermario Bellavita, Piera Viero, Benedetto Comotti, Tiziano Barbui, Alessandro Rambaldi

Journal:

British Journal of Haematology

Année:

2002

Langue:

english

Fichier:

PDF, 224 KB

english, 2002

Effect of the protein tyrosine kinase inhibitor genistein on normal and leukaemic haemopoietic progenitor cells

CARMELO CARLO-STELLA, ESTER REGAZZI, DANIELA GARAU, LINA MANGONI, MARIA TERESA RIZZO, ANTONIO BONATI, GIANPIETRO DOTTI, CAMILLO ALMICI, VITTORIO RIZZOLI

Journal:

British Journal of Haematology

Année:

1996

Langue:

english

Fichier:

PDF, 646 KB

english, 1996

Astrocytic but not neuronal increased expression and redistribution of parkin during unfolded protein stress

Maria Dolores Ledesma, Cristian Galvan, Bianca Hellias, Carlos Dotti, Poul Henning Jensen

Journal:

Journal of Neurochemistry

Année:

2002

Langue:

english

Fichier:

PDF, 308 KB

english, 2002

Molecular characterisation of the glucose-6-phosphate dehydrogenase (G6PD) Ferrara II variant

Maria Domenica Cappellini, Franco Martinez Montemuros, Chiara Dotti, Dario Tavazzi, Gemino Fiorelli

Journal:

Human Genetics

Année:

1995

Langue:

english

Fichier:

PDF, 411 KB

english, 1995

On certain locally homogeneous Clifford manifolds

Maria L. Barberis, Isabel G. Dotti Miatello, Roberto J. Miatello

Journal:

Annals of Global Analysis and Geometry

Année:

1995

Langue:

english

Fichier:

PDF, 679 KB

english, 1995

Determination of serum angiotensin-converting enzyme in sarcoidosis

Gianfranco Tassi, Anna Maria Nava, Germano Bettoncelli, Alberto Dotti, Giuseppe Pizzocolo

Journal:

International Journal of Clinical & Laboratory Research

Année:

1984

Langue:

english

Fichier:

PDF, 477 KB

english, 1984

Dose finding study of erlotinib combined to capecitabine and irinotecan in pretreated advanced colorectal cancer patients

Emilio Bajetta, Maria Di Bartolomeo, Roberto Buzzoni, Erminia Ferrario, Katia F. Dotti, Luigi Mariani, Roberto Bajetta, Arpine Gevorgyan, Paola Venturino, Margherita Galassi

Journal:

Cancer Chemotherapy and Pharmacology

Année:

2009

Langue:

english

Fichier:

PDF, 275 KB

english, 2009

The Primrose syndrome with progressive neurological involvement and cerebral calcification

Carla Battisti, Maria Teresa Dotti, Alfonso Cerase, Alessandra Rufa, Francesco Sicurelli, Chiara Scarpini, Antonio Federico

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 312 KB

english, 2002

Cortical damage in brains of patients with adult-form of myotonic dystrophy type 1 and no or minimal MRI abnormalities

Antonio Giorgio, Maria T. Dotti, Marco Battaglini, Silvia Marino, Marzia Mortilla, Maria L. Stromillo, Placido Bramanti, Alfredo Orrico, Antonio Federico, Nicola De Stefano

Journal:

Elena Cardaioli, Paola Da Pozzo, Gian Nicola Gallus, Rossella Franceschini, Alessandra Rufa, Maria Teresa Dotti, Aldo Caporossi, Antonio Federico

Année:

2006

Langue:

english

Fichier:

PDF, 231 KB

english, 2006

Leber’s Hereditary Optic Neuropathy associated with cocaine, ecstasy and telithromycin consumption

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 146 KB

english, 2007

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

Maria Teresa Dotti, Rosaria Buccoliero, Andrew Lee, J. Raphael Gorospe, Daniel Flint, Paolo Galluzzi, Silvia Bianchi, Camilla D’Eramo, Sakkubai Naidu, Antonio Federico, Michael Brenner

Journal:

Raffaella Valenti, Silvia Bianchi, Francesca Pescini, Camilla D’Eramo, Domenico Inzitari, Maria Teresa Dotti, Leonardo Pantoni

Année:

2009

Langue:

english

Fichier:

PDF, 275 KB

english, 2009

First report of a pathogenic mutation on exon 24 of theNOTCH3gene in a CADASIL family

Journal:

Elena Cardaioli, Francesco Sicurelli, Maria Alessandra Carluccio, Gian Nicola Gallus, Paola Da Pozzo, Mauro Mondelli, Maria Antonietta Margollicci, Vanna Micheli, Antonio Federico, Maria Teresa Dotti

Année:

2011

Langue:

english

Fichier:

PDF, 270 KB

english, 2011

A newthymidine phosphorylasemutation causing elongation of the protein underlies mitochondrial neurogastrointestinal encephalomyopathy

Journal:

Maria Laura Stromillo, Alessandro Malandrini, Maria Teresa Dotti, Marco Battaglini, Federico Borgogni, Alessandra Tessa, Eugenia Storti, Paola S. Denora, Filippo Maria Santorelli, Carmen Gaudiano, Car

Année:

2012

Langue:

english

Fichier:

PDF, 285 KB

english, 2012

Structural and metabolic damage in brains of patients withSPG11-related spastic paraplegia as detected by quantitative MRI

Journal:

Maria Teresa Dotti, Sergio Mondillo, Katrin Plewnia, Eustachio Agricola, A. Federico

Année:

2011

Langue:

english

Fichier:

PDF, 273 KB

english, 2011

Cerebrotendinous xanthomatosis: evidence of lipomatous hypertrophy of the atrial septum

Journal:

Elena Cardaioli, Gian Maria Fabrizi, Gaetano Salvatore Grieco, Maria Teresa Dotti, Antonio Federico

Année:

1998

Langue:

english

Fichier:

PDF, 169 KB

english, 1998

Heteroplasmy of the A3243G transition of mitochondrial tRNALeu(UUR)in a MELAS case and in a 25-week-old miscarried fetus

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 119 KB

english, 2000

Severe metabolic abnormalities in the white matter of patients with vacuolating megalencephalic leukoencephalopathy with subcortical cysts. A proton MR spectroscopic imaging study

Nicola De Stefano, Paolo Balestri, Maria T. Dotti, Salvatore Grosso, Marzia Mortilla, Guido Morgese, Antonio Federico

Journal: