Anna Choub
University of Pisa
16 Papers
112 Citations
Anna Choub is an academic researcher from University of Pisa. The author has contributed to research in topics: Mitochondrial disease & Mitochondrial DNA. The author has an hindex of 13, co-authored 16 publications.
Chat about Author
Papers
Could mitochondrial haplogroups play a role in sporadic amyotrophic lateral sclerosis
Michelangelo Mancuso,Francesca Luisa Conforti,Anna Rocchi,Alessandro Tessitore,Maria Muglia,Gioacchino Tedeschi,Daniela Panza,M. R. Monsurrò,Patrizia Sola,Jessica Mandrioli,Anna Choub,Alberto DelCorona,Maria Laura Manca,Rosalucia Mazzei,Teresa Sprovieri,Massimiliano Filosto,Alessandro Salviati,Paola Valentino,Francesco Bono,Manuela Caracciolo,Isabella Laura Simone,Vincenzo La Bella,G. Majorana,Gabriele Siciliano,Luigi Murri,Aldo Quattrone +25 more
TL;DR: Evidence of the contribution of mitochondrial variation to the risk of ALS development in Caucasians is provided and may help elucidate the mechanism of the mitochondrial dysfunction detectable in ALS, and may be of relevance in development of strategies for the treatment of this disease.
73
Mitochondria, Cognitive Impairment, and Alzheimer's Disease
Michelangelo Mancuso,Valeria Calsolaro,Daniele Orsucci,Cecilia Carlesi,Anna Choub,S Piazza,Gabriele Siciliano +6 more
TL;DR: The role of the mitochondria, and especially of the mtDNA, in the cascade of events leading to neurodegeneration, dementia, and AD is discussed.
Coenzyme Q10 and Neurological Diseases
TL;DR: The physiological roles of CoQ10, as well as the rationale and the role in clinical practice of Coq10 supplementation in different neurological diseases, are reviewed, from primary CoQ 10 deficiency to neurodegenerative disorders.
Mitochondrial DNA-related disorders
Michelangelo Mancuso,Massimiliano Filosto,Anna Choub,Marta Tentorio,Laura Broglio,Alessandro Padovani,Gabriele Siciliano +6 more
TL;DR: An updated classification and overview the main clinical pictures of mitochondrial diseases are reported, which include polymorphous phenotypes ranging from pure myopathy to multi-system involvement.
35
MERRF syndrome without ragged-red fibers: the need for molecular diagnosis.
Michelangelo Mancuso,Lucia Petrozzi,Massimiliano Filosto,Claudia Nesti,Anna Rocchi,Anna Choub,Sabina Pistolesi,Roberto Massetani,Gabriella Fontanini,Gabriele Siciliano +9 more
TL;DR: The case of a patient with myoclonic epilepsy who underwent muscle biopsy for suspected mitochondrial disease, which showed the common MERRF mutation in the tRNA(Lys) gene on mitochondrial DNA, serves to illustrate the importance of pursuing the proposed mitochondrial genetic abnormality, even in patients with normal biopsy findings.
31