Resultados da pesquisa - Alfredo Brusco

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  1. 1
    An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene

    An Enhanced Polymerase Chain Reaction Assay to Detect Pre- and Full Mutation Alleles of the Fragile X Mental Retardation 1 Gene Por Alessandro Saluto, Alessandro Brussino, Flora Tassone, Carlo Arduino, Claudia Cagnoli, Patrizia Pappi, Paul J. Hagerman, Nicola Migone, Alfredo Brusco

    Publicado em 2005
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  2. 2
    High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay

    High frequency of ribosomal protein gene deletions in Italian Diamond-Blackfan anemia patients detected by multiplex ligation-dependent probe amplification assay Por P. Quarello, Emanuela Garelli, Alfredo Brusco, Adriana Carando, Cecilia Mancini, Polyxeni G. Pappi, Luciana Vinti, Johanna Svahn, Irma Dianzani, U. Ramenghi

    Publicado em 2012
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  3. 3
    SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2

    SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22–q11.2 Por Claudia Cagnoli, Caterina Mariotti, Franco Taroni, Marco Seri, Alessandro Brussino, Chiara Michielotto, Marina Grisoli, Daniela Di Bella, Nicola Migone, Cinzia Gellera, Stefano Di Donato, Alfredo Brusco

    Publicado em 2005
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  4. 4
    Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations

    Diamond-Blackfan anemia: genotype-phenotype correlations in Italian patients with RPL5 and RPL11 mutations Por Paola Quarello, Emanuela Garelli, Adriana Carando, Alfredo Brusco, Roberto Calabrese, Christelle Dufour, Daniela Longoni, A. Misuraca, Luciana Vinti, Anna Aspesi, Laura Biondini, Fabrizio Loreni, Irma Dianzani, Ugo Ramenghi

    Publicado em 2009
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  5. 5
    Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia

    Motor and cognitive outcomes of cerebello-spinal stimulation in neurodegenerative ataxia Por Alberto Benussi, Valentina Cantoni, Marta Manes, Ilenia Libri, Valentina Dell’Era, Abhishek Datta, Chris Thomas, Camilla Ferrari, Alessio Di Fonzo, Roberto Fancellu, Mario Grassi, Alfredo Brusco, Antonella Alberici, Barbara Borroni

    Publicado em 2021
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  6. 6
    A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia

    A Recurrent Mutation in CACNA1G Alters Cav3.1 T-Type Calcium-Channel Conduction and Causes Autosomal-Dominant Cerebellar Ataxia Por Marie Coutelier, Iulia Blesneac, Arnaud Monteil, Marie‐Lorraine Monin, Kunié Ando, Emeline Mundwiller, Alfredo Brusco, Isabelle Le Ber, Mathieu Anheim, Anna Castrioto, Charles Duyckaerts, Alexis Brice, Alexandra Dürr, Philippe Lory, Giovanni Stévanin

    Publicado em 2015
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  7. 7
    Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

    Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48 Por Stefania Magri, Lorenzo Nanetti, Cinzia Gellera, Elisa Sarto, Elena Rizzo, Alessia Mongelli, Benedetta Ricci, Roberto Fancellu, Luisa Sambati, Pietro Cortelli, Alfredo Brusco, Maria Grazia Bruzzone, Caterina Mariotti, Daniela Di Bella, Franco Taroni

    Publicado em 2021
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  8. 8
    Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease

    Exome sequencing reveals a rare damaging variant in GRIN2C in familial late-onset Alzheimer's disease Por Elisa Rubino, Maria Italia, Elisa Di Giorgio, Silvia Boschi, Paola Dimartino, Tommaso Pippucci, Fausto Roveta, Clara Cambria, Gabriella Elia, Andrea Marcinnò, Salvatore Gallone, Ekaterina Rogaeva, Flavia Antonucci, Alfredo Brusco, Fabrizio Gardoni, Innocenzo Rainero

    Publicado em 2025
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  9. 9
    MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease

    MEK Inhibition in a Newborn with RAF1-Associated Noonan Syndrome Ameliorates Hypertrophic Cardiomyopathy but Is Insufficient to Revert Pulmonary Vascular Disease Por Alessandro Mussa, Diana Carli, Elisa Giorgio, Anna Maria Villar, Simona Cardaropoli, Caterina Carbonara, Maria Francesca Campagnoli, Paolo Galletto, Martina Palumbo, Simone Olivieri, Claudio Isella, Grégor Andelfinger, Marco Tartaglia, Giovanni Botta, Alfredo Brusco, Enzo Médico, Giovanni Battista Ferrero

    Publicado em 2021
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  10. 10
    A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD)

    A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) Por Elisa Giorgio, Daniel Robyr, Malte Spielmann, Enza Ferrero, Eleonora Di Gregorio, Daniele Imperiale, Giovanna Vaula, Georgios Stamoulis, Federico Santoni, Cristiana Atzori, Laura Gasparini, Denise Ferrera, Claudio Canale, Michel Guipponi, L Pennacchio, Stylianos E. Antonarakis, Alessandro Brussino, Alfredo Brusco

    Publicado em 2015
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  11. 11
    X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells

    X chromosome dosage and presence of SRY shape sex-specific differences in DNA methylation at an autosomal region in human cells Por Bianca Ho, Keelin Greenlaw, Abeer Al Tuwaijri, Sanny Moussette, Francisco Martı́nez, Elisa Giorgio, Alfredo Brusco, Giovanni Battista Ferrero, Natália D. Linhares, Eugênia Ribeiro Valadares, Marta Svartman, Vera M. Kalscheuer, Germán Rodríguez Criado, Catherine Laprise, Celia M.T. Greenwood, Anna K. Naumova

    Publicado em 2018
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  12. 12
    Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias

    Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias Por Claudia Cagnoli, Giovanni Stévanin, Alessandro Brussino, Marco Barberis, Cecilia Mancini, Russell L. Margolis, Susan E. Holmes, Marcello Nobili, Sylvie Forlani, Sergio Padovan, Patrizia Pappi, Cécile Zaros, Isabelle Leber, Pascale Ribaı̈, Luisa Pugliese, Corrado Assalto, Alexis Brice, Nicola Migone, Alexandra Dürr, Alfredo Brusco

    Publicado em 2010
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  13. 13
    COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome

    COL4A3/COL4A4 mutations: From familial hematuria to autosomal-dominant or recessive Alport syndrome Por Ilaria Longo, Paola Porcedda, Francesca Mari, Daniela Giachino, Ilaria Meloni, Carla Deplano, Alfredo Brusco, Maurizio Bosio, Laura Massella, Giancarlo Lavoratti, Dario Roccatello, Giovanni M. Frascà, Gianna Mazzucco, Andrea Onetti Muda, M I Bonanno Conti, F Fasciolo, Christelle Arrondel, Laurence Heidet, Alessandra Renieri, Mario Marchi

    Publicado em 2002
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  14. 14
    <i>NT5E</i>Mutations and Arterial Calcifications

    <i>NT5E</i>Mutations and Arterial Calcifications Por Cynthia St. Hilaire, Shira G. Ziegler, Thomas C. Markello, Alfredo Brusco, Catherine Groden, Fred A. Gill, Hannah Carlson-Donohoe, Robert J. Lederman, Marcus Y. Chen, Dan Yang, Michael Siegenthaler, Carlo Arduino, Cecilia Mancini, Bernard Freudenthal, Horia Stanescu, Anselm A. Zdebik, R.K. Chaganti, Robert L. Nussbaum, Robert Kleta, William A. Gahl, Manfred Boehm

    Publicado em 2011
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  15. 15
    <i>ACE2</i>gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population

    <i>ACE2</i>gene variants may underlie interindividual variability and susceptibility to COVID-19 in the Italian population Por Elisa Benetti, Tita Rossella, Ottavia Spiga, Andrea Ciolfi, Birolo Giovanni, Alessandro Bruselles, Doddato Gabriella, Giliberti Annarita, Marconi Caterina, Francesco Musacchia, Tommaso Pippucci, Annalaura Torella, Trezza Alfonso, Valentino Floriana, Baldassarri Margherita, Alfredo Brusco, Rosanna Asselta, Mirella Bruttini, Simone Furini, Marco Seri, Vincenzo Nigro, Giuseppe Matullo, Marco Tartaglia, Francesca Mari, Alessandra Renieri, Anna Maria Pinto

    Publicado em 2020
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  16. 16
    Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3

    Testis development in the absence of SRY: chromosomal rearrangements at SOX9 and SOX3 Por Annalisa Vetro, Mohammadreza Dehghani, Lilia Kraoua, Roberto Giorda, Silvana Beri, Laura Cardarelli, Maurizio Merico, Emmanouil Manolakos, Alexis Parada‐Bustamante, Andrea Castro, Orietta Radi, Giovanna Camerino, Alfredo Brusco, M Sabaghian, Crystalena Sofocleous, Francesca Forzano, Pietro Palumbo, Orazio Palumbo, Savino Calvano, Leopoldo Zelante, Paola Grammatico, Sabrina Giglio, M Basly, Myriam Châabouni, Massimo Carella, Gianni Russo, María Clara Bonaglia, Orsetta Zuffardi

    Publicado em 2014
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  17. 17
    Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

    Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy Por Stephan Klebe, Christel Depienne, S. Gerber, Georges Challe, Mathieu Anheim, Perrine Charles, Estelle Fédirko, Elodie Lejeune, Julien Cottineau, Alfredo Brusco, Hélène Dollfus, Patrick F. Chinnery, Cecilia Mancini, Xavier Ferrer, Guilhem Solé, A. Destée, Jean-Michel Mayer, Bertrand Fontaine, de Sèze, Michel Clanet, Elisabeth Ollagnon, Philippe Busson, Cécile Cazeneuve, Giovanni Stévanin, Josseline Kaplan, Jean‐Michel Rozet, Alexis Brice, Alexandra Dürr

    Publicado em 2012
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  18. 18
    ELOVL5 Mutations Cause Spinocerebellar Ataxia 38

    ELOVL5 Mutations Cause Spinocerebellar Ataxia 38 Por Eleonora Di Gregorio, Barbara Borroni, Elisa Giorgio, Daniela Lacerenza, Marta Ferrero, Nicola Lo Buono, Neftj Ragusa, Cecilia Mancini, Marion Gaussen, Alessandro Calcia, Nico Mitro, Eriola Hoxha, Isabella Mura, Domenico Coviello, Young-Ah Moon, Christelle Tesson, Giovanna Vaula, Philippe Couarch, Laura Orsi, Eleonora Duregon, Mauro Papotti, Jean-François Deleuze, Jean Imbert, Chiara Costanzi, Alessandro Padovani, Paola Giunti, Marcel Maillet-Vioud, Alexandra Dürr, Alexis Brice, Filippo Tempia, Ada Funaro, Loredana Boccone, Donatella Caruso, Giovanni Stévanin, Alfredo Brusco

    Publicado em 2014
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  19. 19
    Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes

    Modulation of the age at onset in spinocerebellar ataxia by CAG tracts in various genes Por Sophie Tézenas du Montcel, Alexandra Dürr, Peter Bauer, Karla P. Figueroa, Yaeko Ichikawa, Alessandro Brussino, Sylvie Forlani, Maria Rakowicz, Lüdger Schöls, Caterina Mariotti, Bart P.C. van de Warrenburg, Laura Orsi, Paola Giunti, Alessandro Filla, Sandra Szymanski, Thomas Klockgether, José Berciano, Massimo Pandolfo, Sylvia Boesch, Béla Melegh, Dagmar Timmann, Paola Mandich, Agnès Camuzat, Jun Goto, Tetsuo Ashizawa, Cécile Cazeneuve, Shoji Tsuji, Stefan-M. Pulst, Alfredo Brusco, Olaf Rieß, Alexis Brice, Giovanni Stévanin

    Publicado em 2014
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  20. 20
    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy

    Biallelic<i>PI4KA</i>variants cause a novel neurodevelopmental syndrome with hypomyelinating leukodystrophy Por Edgard Verdura, Agustí Rodríguez‐Palmero, Valentina Vélez-Santamaría, Laura Planas‐Serra, Irene de la Calle, Miquel Raspall‐Chaure, Agathe Roubertie, Mehdi Benkirane, Francesco Saettini, Lisa Pavinato, Giorgia Mandrile, Melanie O’Leary, Emily O’Heir, Estíbaliz Barredo Valderrama, Almudena Chacón, Vincent Michaud, Cyril Goizet, Montserrat Ruíz, Agatha Schlüter, Isabelle Rouvet, Júlia Sala‐Coromina, C Fossati, Maria Iascone, Francesco Canonico, Anna Marcé‐Grau, Precilla de Souza, David R. Adams, Carlos Casasnovas, Heidi L. Rehm, Heather C. Mefford, Luis González Gutiérrez-Solana, Alfredo Brusco, M. Kœnig, Alfons Macaya, Aurora Pujol

    Publicado em 2021
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