Որոնման արդյունքները - Sabrina Dusi
- Ցուցադրվում են 1 - 10 արդյունքները 10
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1
Mitochondrial iron and energetic dysfunction distinguish fibroblasts and induced neurons from pantothenate kinase-associated neurodegeneration patients Paolo Santambrogio, Sabrina Dusi, Michela Guaraldo, Luisa Ida Rotundo, Vania Broccoli, Barbara Garavaglia, Valeria Tiranti, Sonia Levi
Հրապարակվել է 2015Artigo -
2
AND-1 fork protection function prevents fork resection and is essential for proliferation Takuya Abe, Ryotaro Kawasumi, Michele Giannattasio, Sabrina Dusi, Yui Yoshimoto, Keiji Miyata, Koyuki Umemura, Kouji Hirota, Dana Branzei
Հրապարակվել է 2018Artigo -
3
Gene-specific mitochondria dysfunctions in human TARDBP and C9ORF72 fibroblasts Elisa Onesto, Claudia Colombrita, Valentina Gumina, María Orietta Borghi, Sabrina Dusi, Alberto Doretti, Gigliola Fagiolari, Federica Invernizzi, Maurizio Moggio, Valeria Tiranti, Vincenzo Silani, Antonia Ratti
Հրապարակվել է 2016Artigo -
4
Pantethine treatment is effective in recovering the disease phenotype induced by ketogenic diet in a pantothenate kinase-associated neurodegeneration mouse model Dario Brunetti, Sabrina Dusi, Carla Giordano, Costanza Lamperti, Michela Morbin, Valeria Fugnanesi, Silvia Marchet, Gigliola Fagiolari, Ody C.M. Sibon, Maurizio Moggio, Giulia d’Amati, Valeria Tiranti
Հրապարակվել է 2013Artigo -
5
Pantothenate kinase-associated neurodegeneration: altered mitochondria membrane potential and defective respiration in Pank2 knock-out mouse model Dario Brunetti, Sabrina Dusi, Michela Morbin, Andrea Uggetti, Fabio Moda, Ilaria D’Amato, Carla Giordano, Giulia d’Amati, Anna Cozzi, Sonia Levi, Susan J. Hayflick, Valeria Tiranti
Հրապարակվել է 2012Artigo -
6
Coenzyme A corrects pathological defects in human neurons of <scp>PANK</scp> 2‐associated neurodegeneration Daniel Orellana, Paolo Santambrogio, Alicia Rubio, Latefa Yekhlef, Cinzia Cancellieri, Sabrina Dusi, Serena Giannelli, Paola Venco, Pietro Giuseppe Mazzara, Anna Cozzi, Maurizio Ferrari, Barbara Garavaglia, Stefano Taverna, Valeria Tiranti, Vania Broccoli, Sonia Levi
Հրապարակվել է 2016Artigo -
7
Metabolic consequences of mitochondrial coenzyme A deficiency in patients with PANK2 mutations Valerio Leoni, Laura Strittmatter, Giovanna Zorzi, Federica Zibordi, Sabrina Dusi, Barbara Garavaglia, Paola Venco, Claudio Caccia, Amanda L. Souza, Amy Deik, Clary B. Clish, Marco Rimoldi, Emilio Ciusani, Enrico Bertini, Nardo Nardocci, Vamsi K. Mootha, Valeria Tiranti
Հրապարակվել է 2011Artigo -
8
Absence of an Orphan Mitochondrial Protein, C19orf12, Causes a Distinct Clinical Subtype of Neurodegeneration with Brain Iron Accumulation Monika Hartig, Arcangela Iuso, Tobias B. Haack, Tomasz Kmieć, Elżbieta Jurkiewicz, Katharina Heim, Sigrun Roeber, Victoria Tarabin, Sabrina Dusi, Małgorzata Krajewska‐Walasek, Sergiusz Jóźwiak, Maja Hempel, Juliane Winkelmann, Matthias Elstner, Konrad Oexle, Thomas Klopstock, Wolfgang Mueller‐Felber, Thomas Gasser, Claudia Trenkwalder, Valeria Tiranti, Hans A. Kretzschmar, Gerd Schmitz, Tim M. Strom, Thomas Meitinger, Holger Prokisch
Հրապարակվել է 2011Artigo -
9
Exome Sequence Reveals Mutations in CoA Synthase as a Cause of Neurodegeneration with Brain Iron Accumulation Sabrina Dusi, Lorella Valletta, Tobias B. Haack, Yugo Tsuchiya, Paola Venco, Sebastiano Pasqualato, P Goffrini, Marco Tigano, Nikita Demchenko, Thomas Wieland, Thomas Schwarzmayr, Tim M. Strom, Federica Invernizzi, Barbara Garavaglia, Allison Gregory, Lynn Sanford, Jeffrey Hamada, Conceição Bettencourt, Henry Houlden, Luisa Chiapparini, Giovanna Zorzi, Manju A. Kurian, Nardo Nardocci, Holger Prokisch, Susan J. Hayflick, Ivan Gout, Valeria Tiranti
Հրապարակվել է 2013Artigo -
10
COQ4 Mutations Cause a Broad Spectrum of Mitochondrial Disorders Associated with CoQ10 Deficiency Gloria Brea‐Calvo, Tobias B. Haack, Daniela Karall, Akira Ohtake, Federica Invernizzi, Rosalba Carrozzo, Laura S. Kremer, Sabrina Dusi, Christine Fauth, Sabine Scholl‐Bürgi, Elisabeth Graf, Uwe Ahting, Nicoletta Resta, Nicola Laforgia, Daniela Verrigni, Yasushi Okazaki, Masakazu Kohda, Diego Martinelli, Peter Freisinger, Tim M. Strom, Thomas Meitinger, Costanza Lamperti, Atilano Lacson, Plácido Navas, Johannes A. Mayr, Enrico Bertini, Kei Murayama, Massimo Zeviani, Holger Prokisch, Daniele Ghezzi
Հրապարակվել է 2015Artigo
Որոնման գործիքներ:
Առնչվող խորագիր
Biology
Gene
Medicine
Disease
Genetics
Neurodegeneration
Mitochondrion
Biochemistry
Cell biology
Internal medicine
Mitochondrial DNA
Pathology
Mitochondrial disease
Mutation
Neuroscience
Retinal degeneration
Bioinformatics
Computer science
Endocrinology
Exome sequencing
ATP synthase
Aconitase
Allele
Amyotrophic lateral sclerosis
Apoptosis
Atrophy
Autophagy
C9orf72
Cerebellar hypoplasia (non-human)
Cerebellum