Zobrazeno 1 - 4
of 4
pro vyhledávání: '"Stefania Casali"'
Autor:
Fabio Giannini, Giulia Riolo, Stefania Battistini, Stefania Casali, Silvia Bocci, Claudia Ricci
Publikováno v:
Genes
Genes; Volume 12; Issue 10; Pages: 1544
Genes, Vol 12, Iss 1544, p 1544 (2021)
Genes; Volume 12; Issue 10; Pages: 1544
Genes, Vol 12, Iss 1544, p 1544 (2021)
Amyotrophic lateral sclerosis (ALS) is a progressive and fatal disorder characterized by degeneration of motor neurons in the cerebral cortex, brain stem, and spinal cord. Most cases of ALS appear sporadically, but 5–10% of patients have a family h
Autor:
Federica Ginanneschi, Fabio Giannini, David Cioncoloni, Marisa Carone, Boni Veronica, Alessandro Rossi, Stefania Casali
Publikováno v:
Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 37(5)
Myasthenia gravis (MG) is an autoimmune neuromuscular disorder in which disabling muscle weakness may affect health-related quality of life (HRQoL). The aim of this study was to investigate which common motor-functional deficits and corresponding sev
Autor:
Beatrice Guerra, Vanessa Guerri, Michele Zappella, Alessandra Renieri, Claudio De Felice, Sabrina Buoni, Raffaella Zannolli, Stefania Casali, J. Hayek, Barbara Pucci, Francesca Mari, Letizia Corbini, Anna De Nicola
Publikováno v:
Clinical Neurophysiology. 121:652-657
Objective To assess the presence/absence of peculiar EEG features and epilepsy in MECP2-mutated Rett patients with the Zappella–Rett variant (Z-RTT) also known as preserved speech variant. Methods Retrospective analysis of 16 (age 19.4±8.4years; r
Publikováno v:
Neurological Sciences. 33:1483-1485
Here we describe a case of Neurofibromatosis type 1 (NF1) associated with an atypical histiocytic lesion and a new pathogenic mutation. The genetic analysis revealed an heterozygous mutation in the 5′ splice site of intron 32, 6,084 + 1G → T. His