Arama Sonuçları - Maria Teresa Dotti

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  1. 1
    The spectrum of Notch3 mutations in 28 Italian CADASIL families

    The spectrum of Notch3 mutations in 28 Italian CADASIL families Yazar: Maria Teresa Dotti

    Baskı/Yayın Bilgisi 2005
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  2. 2
    Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis

    Magnetic resonance imaging and spectroscopic changes in brains of patients with cerebrotendinous xanthomatosis Yazar: Nicola De Stefano, Maria Teresa Dotti, M. Mortilla, Antonio Federico

    Baskı/Yayın Bilgisi 2001
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  3. 3
    A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis

    A suspicion index for early diagnosis and treatment of cerebrotendinous xanthomatosis Yazar: Andrea Mignarri, Gian Nicola Gallus, Maria Teresa Dotti, Antonio Federico

    Baskı/Yayın Bilgisi 2014
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  4. 4
    Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias

    Differences in saccade dynamics between spinocerebellar ataxia 2 and late-onset cerebellar ataxias Yazar: Pamela Federighi, Gabriele Cevenini, Maria Teresa Dotti, Francesca Rosini, Elena Pretegiani, Antonio Federico, Alessandra Rufa

    Baskı/Yayın Bilgisi 2011
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  5. 5
    The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies

    The safety and effectiveness of chenodeoxycholic acid treatment in patients with cerebrotendinous xanthomatosis: two retrospective cohort studies Yazar: Aad Verrips, Maria Teresa Dotti, Andrea Mignarri, Bianca M. L. Stelten, Sue Verma, Antonio Federico

    Baskı/Yayın Bilgisi 2019
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  6. 6
    Progression of Brain Atrophy in Spinocerebellar Ataxia Type 2: A Longitudinal Tensor-Based Morphometry Study

    Progression of Brain Atrophy in Spinocerebellar Ataxia Type 2: A Longitudinal Tensor-Based Morphometry Study Yazar: Mario Mascalchi, Stefano Diciotti, Marco Giannelli, Andrea Ginestroni, Andrea Soricelli, Emanuele Nicolai, Marco Aiello, Carlo Tessa, Lucia Galli, Maria Teresa Dotti, Silvia Piacentini, Elena Salvatore, Nicola Toschi

    Baskı/Yayın Bilgisi 2014
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  7. 7
    Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients

    Location, number and factors associated with cerebral microbleeds in an Italian-British cohort of CADASIL patients Yazar: Serena Nannucci, Valentina Rinnoci, Giovanni Pracucci, Andrew D. MacKinnon, Francesca Pescini, Poneh Adib‐Samii, Silvia Bianchi, Maria Teresa Dotti, Antonio Federico, Domenico Inzitari, Hugh S. Markus, Leonardo Pantoni

    Baskı/Yayın Bilgisi 2018
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  8. 8
    Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

    Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy Yazar: Danique Beijer, Tine Deconinck, Jan De Bleecker, Maria Teresa Dotti, Alessandro Malandrini, Jon Andoni Urtizberea, Miren Zulaica, Adolfo López de Munaín, Bob Asselbergh, Peter De Jonghe, Jonathan Baets

    Baskı/Yayın Bilgisi 2019
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  9. 9
    Heterozygous mutations of <i><scp>HTRA</scp>1</i> gene in patients with familial cerebral small vessel disease

    Heterozygous mutations of <i><scp>HTRA</scp>1</i> gene in patients with familial cerebral small vessel disease Yazar: Ilaria Di Donato, Silvia Bianchi, Gian Nicola Gallus, Alfonso Cerase, Ilaria Taglia, Francesca Pescini, Serena Nannucci, Carla Battisti, Domenico Inzitari, Leonardo Pantoni, Andrea Zini, Antonio Federico, Maria Teresa Dotti

    Baskı/Yayın Bilgisi 2017
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  10. 10
    Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study

    Expert opinion on diagnosing, treating and managing patients with cerebrotendinous xanthomatosis (CTX): a modified Delphi study Yazar: Bianca M. L. Stelten, Maria Teresa Dotti, Aad Verrips, Bülent Elibol, Tzipora C. Falik‐Zaccai, Kate Hanman, Andrea Mignarri, Belina Sithole, Robert D. Steiner, Surabhi Verma, Gilad Yahalom, Tanyel Zübarioğlu, Fanny Mochel, Antonio Federico

    Baskı/Yayın Bilgisi 2021
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  11. 11
    MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis

    MRI in Leber's hereditary optic neuropathy: the relationship to multiple sclerosis Yazar: Lucy Matthews, Christian Enzinger, Franz Fazekas, Àlex Rovira, Olga Ciccarelli, Maria Teresa Dotti, Massimo Filippi, Jette Lautrup Frederiksen, Antonio Giorgio, Wilhelm Küker, Carsten Lukas, Maria A. Rocca, Nicola De Stefano, Ahmed Toosy, Tarek Yousry, Jacqueline Palace

    Baskı/Yayın Bilgisi 2014
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  12. 12
    The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale

    The Cerebral Autosomal-Dominant Arteriopathy With Subcortical Infarcts and Leukoencephalopathy (CADASIL) Scale Yazar: Francesca Pescini, Serena Nannucci, Bruno Bertaccini, Emilia Salvadori, Silvia Bianchi, Michele Ragno, Cristina Sarti, Raffaella Valenti, Enza Zicari, Marco Moretti, Stefano Chiti, Maria Laura Stromillo, Nicola De Stefano, Maria Teresa Dotti, Antonio Federico, Domenico Inzitari, Leonardo Pantoni

    Baskı/Yayın Bilgisi 2012
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  13. 13
    Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1

    Validation of plasma microRNAs as biomarkers for myotonic dystrophy type 1 Yazar: Alessandra Perfetti, Simona Greco, Rosanna Cardani, Barbara Fossati, Giovanna Cuomo, Rea Valaperta, Federico Ambrogi, Andrea Cortese, Annalisa Botta, Andrea Mignarri, Massimo Santoro, Carlo Gaetano, Elena Costa, Maria Teresa Dotti, Gabriella Silvestri, Roberto Massa, G. Meola, Fabio Martelli

    Baskı/Yayın Bilgisi 2016
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  14. 14
    Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome

    Mutations in B9D1 and MKS1 cause mild Joubert syndrome: expanding the genetic overlap with the lethal ciliopathy Meckel syndrome Yazar: Marta Romani, Alessia Micalizzi, Ichraf Kraoua, Maria Teresa Dotti, Mara Cavallin, László Sztriha, Rosario Ruta, Francesca Mancini, Tommaso Mazza, Stefano Castellana, Hanène Benrhouma, Maria Alessandra Carluccio, Francesca Darra, Adrienn Máté, Alíz Zimmermann, N. Gouider‐Khouja, Enza Maria Valente

    Baskı/Yayın Bilgisi 2014
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  15. 15
    Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and management aspects

    Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL) as a model of small vessel disease: update on clinical, diagnostic, and managem... Yazar: Ilaria Di Donato, Silvia Bianchi, Nicola De Stefano, Martin Dichgans, Maria Teresa Dotti, Marco Duering, Éric Jouvent, Amos D. Korczyn, Saskia A.J. Lesnik Oberstein, Alessandro Malandrini, Hugh S. Markus, Leonardo Pantoni, Silvana Penco, Alessandra Rufa, Osman Sinanović, Dragan Stojanov, Antonio Federico

    Baskı/Yayın Bilgisi 2017
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  16. 16
    Narcolepsy is a common phenotype in HSAN IE and ADCA-DN

    Narcolepsy is a common phenotype in HSAN IE and ADCA-DN Yazar: Keivan Kaveh Moghadam, Fabio Pizza, Chiara La Morgia, Christian Franceschini, Caterina Tonon, Raffaele Lodi, Piero Barboni, Marco Seri, Simona Ferrari, Rocco Liguori, Vincenzo Donadio, Piero Parchi, F. Cornelio, Domenico Inzitari, Andrea Mignarri, Giuseppe Capocchi, Maria Teresa Dotti, Juliane Winkelmann, Ling Lin, Emmanuel Mignot, Valério Carelli, Giuseppe Plazzi

    Baskı/Yayın Bilgisi 2014
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  17. 17
    Next-generation sequencing approach to hyperCKemia

    Next-generation sequencing approach to hyperCKemia Yazar: Anna Rubegni, Alessandro Malandrini, Claudia Dosi, Guja Astrea, Jacopo Baldacci, Carla Battisti, Giulia Bertocci, Maria Alice Donati, Maria Teresa Dotti, Antonio Federico, Fabio Giannini, Salvatore Grosso, Renzo Guerrini, Sara Lenzi, Maria Antonietta Maioli, Federico Melani, Eugenio Mercuri, Michele Sacchini, Simona Salvatore, Gabriele Siciliano, Deborah Tolomeo, Paola Tonin, Nila Volpi, Filippo M. Santorelli, Denise Cassandrini

    Baskı/Yayın Bilgisi 2019
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  18. 18
    <i>GFAP</i> mutations, age at onset, and clinical subtypes in Alexander disease

    <i>GFAP</i> mutations, age at onset, and clinical subtypes in Alexander disease Yazar: Morgan J. Prust, Jiaxian Wang, Hiroki Morizono, Albee Messing, Michael Brenner, Edgar Gordon, T. Hartka, Alexander Sokohl, Raphael Schiffmann, Heather Gordish‐Dressman, Roger L. Albin, Hernán Amartino, Kathrin Brockman, Argirios Dinopoulos, Maria Teresa Dotti, Daniel Fain, Ricardo Suárez Fernández, J Ferreira, Jon L. Fleming, Deepak Gill, Martin Griebel, Heidi A. Heilstedt, P A Kaplan, D. Lewis, M. Nakagawa, R.C. Pedersen, Alyssa Reddy, Yukio Sawaishi, Martina Schneider, Elliott H. Sherr, Yoshihisa Takiyama, K Wakabayashi, J. R. Gorospe, Adeline Vanderver

    Baskı/Yayın Bilgisi 2011
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  19. 19
    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the<scp>MNGIE</scp>International Network

    Mitochondrial neurogastrointestinal encephalomyopathy (MNGIE): Position paper on diagnosis, prognosis, and treatment by the<scp>MNGIE</scp>International Network Yazar: Michio Hirano, Valério Carelli, Roberto De Giorgio, Loris Pironi, Anna Accarino, Giovanna Cenacchi, R. D’Alessandro, Massimiliano Filosto, Ramón Martí, Francesco Nonino, Antonio Daniele Pinna, Elisa Baldin, Bridget E. Bax, A Bolletta, Riccardo Bolletta, Elisa Boschetti, Matteo Cescon, Roberto D’Angelo, Maria Teresa Dotti, Carla Giordano, Laura Ludovica Gramegna, Michelle Levene, Raffaele Lodi, Hanna Mandel, Maria Cristina Morelli, Olimpia Musumeci, Alessia Pugliese, Mauro Scarpelli, Antonio Daniele Pinna, Antonella Spinazzola, Galit Tal, Javier Torres‐Torronteras, Luca Vignatelli, Irina Zaidman, Heinz Zoller, Rita Rinaldi, Massimo Zeviani

    Baskı/Yayın Bilgisi 2020
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  20. 20
    Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study

    Next Generation Molecular Diagnosis of Hereditary Spastic Paraplegias: An Italian Cross-Sectional Study Yazar: Angelica D’Amore, Alessandra Tessa, Carlo Casali, Maria Teresa Dotti, Alessandro Filla, Gabriella Silvestri, Antonella Antenora, Guja Astrea, Melissa Barghigiani, Roberta Battini, Carla Battisti, Irene Bruno, Cristina Cereda, Clemente Dato, Giuseppe Di Iorio, Vincenzo Donadio, Monica Felicori, Nicola Fini, Chiara Fiorillo, Salvatore Gallone, Federica Gemignani, Gian Luigi Gigli, Claudio Graziano, Renzo Guerrini, Fiorella Gurrieri, Ariana Kariminejad, Maria Lieto, Charles Marques Lourenço, Alessandro Malandrini, Paola Mandich, Christian Marcotulli, Francesco Mari, Luca Massacesi, Mariarosa Anna Beatrice Melone, Andrea Mignarri, Roberta Milone, Olimpia Musumeci, Elena Pegoraro, Alessia Perna, Antonio Petrucci, Alessandro Pini, Francesca Pochiero, Maria Roser Pons, Ivana Ricca, Salvatore Rossi, Marco Seri, Franco Stanzial, Francesca Tinelli, António Toscano, Mariarosaria Valente, Antonio Federico, Anna Rubegni, Filippo M. Santorelli

    Baskı/Yayın Bilgisi 2018
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