Zobrazeno 1 - 10
of 24
pro vyhledávání: '"Alice Todeschini"'
Autor:
Silvia Rota, Eleonora Marchina, Alice Todeschini, Lorenzo Nanetti, Fabrizio Rinaldi, Alessandra Vanotti, Caterina Mariotti, Alessandro Padovani, Massimiliano Filosto
Publikováno v:
Case Reports in Neurology, Vol 6, Iss 3, Pp 287-290 (2014)
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is cause
Externí odkaz:
https://doaj.org/article/e569ceafcd514fb8b0758773aa844b74
Autor:
Nicola Latronico, Massimiliano Filosto, Nazzareno Fagoni, Laura Gheza, Bruno Guarneri, Alice Todeschini, Raffaella Lombardi, Alessandro Padovani, Giuseppe Lauria
Publikováno v:
PLoS ONE, Vol 8, Iss 9, p e75696 (2013)
BackgroundDegeneration of intraepidermal nerve fibers (IENF) is a hallmark of small fiber neuropathy of different etiology, whose clinical picture is dominated by neuropathic pain. It is unknown if critical illness can affect IENF.MethodsWe enrolled
Externí odkaz:
https://doaj.org/article/7632c70c57e4455ab358dbaffd937cde
Publikováno v:
Minerva pediatrica.
BACKGROUND The adoption of a 'family-centered-care' philosophy is essential for the care process and its negotiation. A better understanding of nurses' perception of factors that affect the process of negotiation could allow us to better address futu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::97c1eaf9ed6a4b06b842d606a02eaf9d
https://pubmed.ncbi.nlm.nih.gov/33438856
https://pubmed.ncbi.nlm.nih.gov/33438856
Autor:
Alessandro Padovani, Silvia Rota, Maria T. Bassi, Massimiliano Filosto, Fabrizio Rinaldi, Alice Todeschini, Alessia Arnoldi
Publikováno v:
Journal of Clinical Neuromuscular Disease. 16:153-158
SPG10 is an autosomal dominant hereditary spastic paraplegia (HSP) caused by mutations in the gene KIF5A encoding the heavy chain of kinesin, a motor protein implied in motility functions within cells. Most of the KIF5A mutations are clustered in 2 a
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d1b44cd5d2a9673c8f42a79b190f383d
https://doi.org/10.1097/cnd.0000000000000063
https://doi.org/10.1097/cnd.0000000000000063
Autor:
Alice Todeschini, Caterina Mariotti, Massimiliano Filosto, Silvia Rota, Fabrizio Rinaldi, Lorenzo Nanetti, Alessandro Padovani, Eleonora Marchina, Alessandra Vanotti
Publikováno v:
Case Reports in Neurology, Vol 6, Iss 3, Pp 287-290 (2014)
Case Reports in Neurology
Case Reports in Neurology
Friedreich ataxia (FRDA) is an autosomal recessive neurodegenerative disorder characterized by progressive gait and limb ataxia, cerebellar, pyramidal and dorsal column involvement, visual defects, scoliosis, pes cavus and cardiomyopathy. It is cause
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::62f010e607ecadea60b17fb15ce1a7c4
http://www.karger.com/Article/FullText/370062
http://www.karger.com/Article/FullText/370062
Autor:
Alessandro Padovani, Mauro Scarpelli, Silvia Rota, Alice Todeschini, Massimiliano Filosto, Fabrizio Rinaldi
Publikováno v:
Molecular Genetics and Metabolism. 113:253-260
Mitochondrial diseases are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain due to both nuclear and mitochondrial DNA mutations. The wide heterogeneity of biochemical dysfunctions and pathogenic mechanism
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::70ae8a014c19cce7bd2b7f4ab31a0ee7
https://doi.org/10.1016/j.ymgme.2014.09.013
https://doi.org/10.1016/j.ymgme.2014.09.013
Publikováno v:
The Application of Clinical Genetics
The Application of Clinical Genetics, Vol Volume 10, Pp 21-26 (2017)
The Application of Clinical Genetics, Vol Volume 10, Pp 21-26 (2017)
Mauro Scarpelli,1 Alice Todeschini,2 Irene Volonghi,2 Alessandro Padovani,2 Massimiliano Filosto2 1Department of Neuroscience, Unit of Neurology, Azienda Ospedaliera Universitaria Integrata Verona, Verona, Italy; 2Center for Neuromuscular Diseases an
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::67de86b13195ae4cbfb080229c6084fe
https://pubmed.ncbi.nlm.nih.gov/28243136
https://pubmed.ncbi.nlm.nih.gov/28243136
Autor:
Alessandro Padovani, Giuliano Tomelleri, Alice Todeschini, Valeria Gregorelli, Maria Cotelli, Mauro Scarpelli, Massimiliano Filosto, Valentina Vielmi, Paola Tonin
Publikováno v:
Journal of Neurology. 258:1763-1774
Mitochondria are implicated in several metabolic pathways including cell respiratory processes, apoptosis, and free radical production. Mitochondrial abnormalities have been documented in neurodegenerative diseases, including Alzheimer's, Parkinson's
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::60f24798dfbea42f4d4afda6a71b1606
https://doi.org/10.1007/s00415-011-6104-z
https://doi.org/10.1007/s00415-011-6104-z
Autor:
Corrado Angelini, Paola Tonin, Massimiliano Filosto, Maurizio Moggio, Valeria Lucchini, Mauro Scarpelli, Sabrina Ravaglia, Alice Todeschini, Martina Brigo, Sofia Cotelli, Francesca Zappini, Serena Pancheri, Francesco Bertoldo, Claudio Semplicini
Publikováno v:
Europe PubMed Central
Bone fragility and low bone mass have been reported in small case series of patients with Pompe disease with severely reduced muscle strength or immobilization.Our objective was to determine the prevalence of morphometric vertebral fractures and to e
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ce03162c1720433876163d96ae3b6fab
https://pubmed.ncbi.nlm.nih.gov/25396301
https://pubmed.ncbi.nlm.nih.gov/25396301
Autor:
Alice Todeschini, Alessandro Padovani, Massimiliano Filosto, Elisa Pari, Fabrizio Rinaldi, Silvia Rota
Publikováno v:
Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration. 16:425-426
sporadic motor neuron disorder that differs from the spinal ALS because it remains largely restricted to the upper limbs over time. Only a few cases are described in the literature with a follow-up ranging between two and 11 years (3,4). We report on
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::1b83b600831f314beb4eb2cfcf44182f
https://doi.org/10.3109/21678421.2015.1009118
https://doi.org/10.3109/21678421.2015.1009118