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Struttura e funzione delle proteine

DICKERSON, Richard E. ; GEIS, Irving ; FRONTALI, Marina ; TERRENATO, Luciano

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2
Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism
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Rhabdoid tumor predisposition syndrome caused by SMARCB1 constitutional deletion: prenatal detection of new case of recurrence in siblings due to gonadal mosaicism

Gigante, Laura ; Paganini, Irene ; Frontali, Marina ; Ciabattoni, Serena ; Sangiuolo, Federica Carla ; Papi, Laura

Familial cancer, 2015-09-05, Vol.15 (1), p.123-126 [Rivista Peer Reviewed]

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3
Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial
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Riluzole in patients with hereditary cerebellar ataxia: a randomised, double-blind, placebo-controlled trial

Romano, Silvia ; Coarelli, Giulia ; Marcotulli, Christian ; Leonardi, Luca ; Piccolo, Francesca ; Spadaro, Maria ; Frontali, Marina ; Ferraldeschi, Michela ; Vulpiani, Maria Chiara ; Ponzelli, Federica ; Salvetti, Marco ; Orzi, Francesco ; Petrucci, Antonio ; Vanacore, Nicola ; Casali, Carlo ; Ristori, Giovanni

Lancet neurology, 2015-10, Vol.14 (10), p.985-991 [Rivista Peer Reviewed]

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4
Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study
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Effects of an intensive rehabilitation programme on patients with Huntington's disease: a pilot study

Zinzi, Paola ; Salmaso, Dario ; De Grandis, Rosa ; Graziani, Graziano ; Maceroni, Stefano ; Bentivoglio, Annarita ; Zappata, Paolo ; Frontali, Marina ; Jacopini, Gioia

Clinical rehabilitation, 2016-07, Vol.21 (7), p.603-613 [Rivista Peer Reviewed]

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5
Episodic Ataxias: Faux or Real?
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Episodic Ataxias: Faux or Real?

Giunti, Paola ; Mantuano, Elide ; Frontali, Marina

International journal of molecular sciences, 2020-09-05, Vol.21 (18), p.6472 [Rivista Peer Reviewed]

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6
Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28
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Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28

Di Bella, Daniela ; Lazzaro, Federico ; Brusco, Alfredo ; Plumari, Massimo ; Battaglia, Giorgio ; Pastore, Annalisa ; Finardi, Adele ; Cagnoli, Claudia ; Tempia, Filippo ; Frontali, Marina ; Veneziano, Liana ; Sacco, Tiziana ; Boda, Enrica ; Brussino, Alessandro ; Bonn, Florian ; Castellotti, Barbara ; Baratta, Silvia ; Mariotti, Caterina ; Gellera, Cinzia ; Fracasso, Valentina ; Magri, Stefania ; Langer, Thomas ; Plevani, Paolo ; Di Donato, Stefano ; Muzi-Falconi, Marco ; Taroni, Franco

Nature genetics, 2010-03-07, Vol.42 (4), p.313-321 [Rivista Peer Reviewed]

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7
Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders
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Exploring by whole exome sequencing patients with initial diagnosis of Rubinstein–Taybi syndrome: the interconnections of epigenetic machinery disorders

Negri, Gloria ; Magini, Pamela ; Milani, Donatella ; Crippa, Milena ; Biamino, Elisa ; Piccione, Maria ; Sotgiu, Stefano ; Perrìa, Chiara ; Vitiello, Giuseppina ; Frontali, Marina ; Boni, Antonella ; Di Fede, Elisabetta ; Gandini, Maria Chiara ; Colombo, Elisa Adele ; Bamshad, Michael J ; Nickerson, Deborah A ; Smith, Joshua D ; Loddo, Italia ; Finelli, Palma ; Seri, Marco ; Pippucci, Tommaso ; Larizza, Lidia ; Gervasini, Cristina

Human genetics, 2019-02-26, Vol.138 (3), p.257-269 [Rivista Peer Reviewed]

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8
Does arterial hypertension influence the onset of Huntington's disease?
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Does arterial hypertension influence the onset of Huntington's disease?

Valcárcel-Ocete, Leire ; Fullaondo, Asier ; Alkorta-Aranburu, Gorka ; García-Barcina, María ; Roos, Raymund A. C ; Hjermind, Lena E ; Saft, Carsten ; Frontali, Marina ; Reilmann, Ralf ; Rickards, Hugh ; Zubiaga, Ana M ; Aguirre, Ana ; Blum, David

PloS one, 2018-05-23, Vol.13 (5), p.e0197975-e0197975

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9
Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16
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Evidence for a modifier of onset age in Huntington disease linked to the HD gene in 4p16

Djoussé, Luc ; Knowlton, Beth ; Hayden, Michael R ; Almqvist, Elisabeth W ; Brinkman, Ryan R ; Ross, Christopher A ; Margolis, Russel L ; Rosenblatt, Adam ; Durr, Alexandra ; Dode, Catherine ; Morrison, Patrick J ; Novelletto, Andrea ; Frontali, Marina ; Trent, Ronald J. A ; McCusker, Elizabeth ; Gómez-Tortosa, Estrella ; Mayo Cabrero, David ; Jones, Randi ; Zanko, Andrea ; Nance, Martha ; Abramson, Ruth K ; Suchowersky, Oksana ; Paulsen, Jane S ; Harrison, Madaline B ; Yang, Qiong ; Cupples, L Adrienne ; Mysore, Jayalakshmi ; Gusella, James F ; MacDonald, Marcy E ; Myers, Richard H

Neurogenetics, 2004-06, Vol.5 (2), p.109-114 [Rivista Peer Reviewed]

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10
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
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Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia

Coarelli, Giulia ; Romano, Silvia ; Travaglini, Lorena ; Ferraldeschi, Michela ; Nicita, Francesco ; Spadaro, Maria ; Fornasiero, Arianna ; Frontali, Marina ; Salvetti, Marco ; Bertini, Enrico ; Ristori, Giovanni

Clinical neurology and neurosurgery, 2018-05, Vol.168, p.60-63 [Rivista Peer Reviewed]

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  2. TERRENATO, Luciano
  3. DICKERSON, Richard E.
  4. FRONTALI, Marina

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