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A. M. Bardelli
Researcher at University of Siena
Publications - 24
Citations - 295
A. M. Bardelli is an academic researcher from University of Siena. The author has contributed to research in topics: Optic nerve & Marinesco–Sjögren syndrome. The author has an hindex of 11, co-authored 23 publications receiving 283 citations.
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Journal ArticleDOI
MRI of Wolfram syndrome (DIDMOAD).
TL;DR: A 12-year-old girl with a 5-year history without brain stem, cerebellar or cerebral atrophy is reported, and MRI showed an unusual feature: a focus of high signal on PD- and T2-weighted images in the right substantia nigra.
Journal ArticleDOI
Pseudoxanthoma elasticum: Point mutations in the ABCC6 gene and a large deletion including also ABCC1 and MYH11
Ilaria Meloni,Pietro Rubegni,Giovambattista De Aloe,Mirella Bruttini,Elisa Pianigiani,Roberto Cusano,Marco Seri,Sergio Mondillo,Antonio Federico,A. M. Bardelli,Lucio Andreassi,Michele Fimiani,Alessandra Renieri +12 more
TL;DR: Clinical re‐examination of members of the family harboring the deletion led to the detection of additional features, potentially caused by the deletion of the MYH11 gene, further confirming the role of this multi‐drug resistance gene in the etiology of pseudoxanthoma elasticum.
Journal ArticleDOI
Coats disease: smaller volume of the affected globe.
Paolo Galluzzi,Carlo Venturi,Alfonso Cerase,Ignazio Maria Vallone,Sandra Bracco,A. M. Bardelli,Theodora Hadjistilianou,Paola Gennari,Lucia Monti,Giuseppe Filosomi +9 more
TL;DR: Ocular globe volume was assessed to determine whether a significant smaller volume of the affected globe, compared with that of the normal globe, is an additional feature of Coats disease.
Book ChapterDOI
Presentation of the data of the Italian registry for oculocutaneous tyrosinaemia
Alberto Fois,P. Borgogni,M. Cioni,M. Molinelli,Renato Frezzotti,A. M. Bardelli,Giacomo Lasorella,L. Barberi,P. Durand,M. Di Rocco,Corrado Romano,Rossella Parini,C. Corbetta,Marcello Giovannini,Elisabetta Riva,N. Balato,R. Sartorio,Florindo Mollica,Enrico Zammarchi,M. L. Battini +19 more
TL;DR: Type II tyrosinaemia in Italy has no regional preponderance and treatment with a low tyrosine diet has been successful when accepted, but since in many patients the diagnosis was made rather late, it is not possible to evaluate the results of the diet for the prevention of neuromotor retardation.
Journal ArticleDOI
Schnyder corneal crystalline dystrophy: description of a new family with evidence of abnormal lipid storage in skin fibroblasts.
Carla Battisti,Maria Teresa Dotti,Alessandro Malandrini,Francesco Pezzella,A. M. Bardelli,Antonio Federico +5 more
TL;DR: Evidence of storage lipids in skin and cultured fibroblasts suggests that the disorder of intracellular cholesterol metabolism is not limited to the cornea and that skin biopsy may be a useful method to confirm the diagnosis.