نتائج البحث - "Frontali Marina"

1

دورية أكاديمية

Genome-wide significance for a modifier of age at neurological onset in Huntington's Disease at 6q23-24: the HD MAPS study

المؤلفون: Gillis Tammy, Mysore Jayalakshmi, Djoussé Luc, Xu Gang, Prakash Ranjana, Wheeler Vanessa C, Lazzarini Alice, Ashizawa Tetsuo, Jones Randi, Paulsen Jane S, Frontali Marina, Novelletto Andrea, McCusker Elizabeth, Trent Ronald JA, Klimek Mary, Suchowersky Oksana, García Carmen, Gómez-Tortosa Estrella, Frati Luigi, Squitieri Ferdinando, Rosenblatt Adam, Margolis Russell L, Ross Christopher A, Nance Martha, Morrison Patrick J, Durr Alexandra, Warby Simon C, Hayden Michael R, Li Jian-Liang, Hakky Michael, Cupples L Adrienne, Saint-Hilaire Marie H, Cha Jang-Ho J, Hersch Steven M, Penney John B, Harrison Madaline B, Perlman Susan L, Zanko Andrea, Abramson Ruth K, Lechich Anthony J, Duckett Ayana, Marder Karen, Conneally P Michael, Gusella James F, MacDonald Marcy E, Myers Richard H

المصدر: BMC Medical Genetics, Vol 7, Iss 1, p 71 (2006)

مصطلحات موضوعية: Internal medicine, RC31-1245, Genetics, QH426-470

وصف الملف: electronic resource

Relation: http://www.biomedcentral.com/1471-2350/7/71; https://doaj.org/toc/1471-2350

URL الوصول: https://doaj.org/article/e3f085610415408f8f263d3a98bea8fe

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2

دورية أكاديمية

Leukocyte telomere shortening in Huntington's disease

المؤلفون: Scarabino, Daniela, Veneziano, Liana, Peconi, Martina, Frontali, Marina, Mantuano, Elide, Corbo, Rosa Maria

المصدر: In Journal of the Neurological Sciences 15 January 2019 396:25-29

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3

دورية أكاديمية

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

المؤلفون: Negri, Gloria, Magini, Pamela, Milani, Donatella, Crippa, Milena^{Aff4, Aff5}, 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^{Aff4, Aff5}, Seri, Marco, Pippucci, Tommaso, Larizza, Lidia, Gervasini, Cristina^Aff1

المصدر: Human Genetics. 138(3):257-269

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4

دورية أكاديمية

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5

كتاب إلكتروني

The Enigma of Spinocerebellar Ataxia Type 6

المؤلفون: Frontali, Marina^Aff3

المساهمون: Gross, H. J., editor, Fry, Michael, editor^Aff1, Usdin, Karen, editor^Aff2

المصدر: Human Nucleotide Expansion Disorders. 19:233-250

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دورية أكاديمية

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

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

المصدر: Familial Cancer. January 2016 15(1):123-126

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7

دورية أكاديمية

A Novel De Novo Mutation of the TITF1/NKX2-1 Gene Causing Ataxia, Benign Hereditary Chorea, Hypothyroidism and a Pituitary Mass in a UK Family and Review of the Literature

المؤلفون: Veneziano, Liana, Parkinson, Michael H., Mantuano, Elide, Frontali, Marina, Bhatia, Kailash P., Giunti, Paola

المصدر: The Cerebellum. October 2014 13(5):588-595

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8

دورية أكاديمية

Dramatically different levels of cacna1a gene expression between pre-weaning wild type and leaner mice

المؤلفون: Veneziano, Liana, Albertosi, Serena, Pesci, Daniela, Mantuano, Elide, Frontali, Marina, Jodice, Carla

المصدر: In Journal of the Neurological Sciences 2011 305(1):71-74

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9

دورية أكاديمية

Candidate glutamatergic and dopaminergic pathway gene variants do not influence Huntington’s disease motor onset

المؤلفون: Ramos, Eliana Marisa, Latourelle, Jeanne C., Gillis, Tammy, Mysore, Jayalakshmi S., Squitieri, Ferdinando, Di Pardo, Alba, Di Donato, Stefano, Gellera, Cinzia, Hayden, Michael R., Morrison, Patrick J., Nance, Martha, Ross, Christopher A., Margolis, Russell L., Gomez-Tortosa, Estrella, Ayuso, Carmen, Suchowersky, Oksana, Trent, Ronald J., McCusker, Elizabeth, Novelletto, Andrea, Frontali, Marina, Jones, Randi, Ashizawa, Tetsuo, Frank, Samuel, Saint-Hilaire, Marie-Helene, Hersch, Steven M., Rosas, Herminia D., Lucente, Diane, Harrison, Madaline B., Zanko, Andrea, Abramson, Ruth K., Marder, Karen, Gusella, James F., Lee, Jong-Min, Alonso, Isabel, Sequeiros, Jorge, Myers, Richard H., MacDonald, Marcy E.

المصدر: neurogenetics. November 2013 14(3-4):173-179

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10

دورية أكاديمية

Identification of novel and recurrent CACNA1A gene mutations in fifteen patients with episodic ataxia type 2

المؤلفون: Mantuano, Elide, Romano, Silvia, Veneziano, Liana, Gellera, Cinzia, Castellotti, Barbara, Caimi, Sara, Testa, Daniela, Estienne, Margherita, Zorzi, Giovanna, Bugiani, Marianna, Rajabally, Yusuf A., Barcina, Maria J Garcìa, Servidei, Serena, Panico, Aurora, Frontali, Marina, Mariotti, Caterina

المصدر: In Journal of the Neurological Sciences 2010 291(1):30-36

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