Zobrazeno 1 - 10
of 22
pro vyhledávání: '"F. M. Santorelli"'
Autor:
M. Lieto, V. Riso, D. Galatolo, G. De Michele, S. Rossi, M. Barghigiani, S. Cocozza, G. Pontillo, R. Trovato, F. Saccà, E. Salvatore, A. Tessa, A. Filla, F. M. Santorelli, G. Silvestri
Publikováno v:
European Journal of Neurology. 27:498-505
Background and purpose Heterozygous mutations in the STUB1 gene have recently been associated with an autosomal dominant form of spinocerebellar ataxia (SCA) associated with cerebellar cognitive-affective syndrome (CCAS), named SCA48. Methods Molecul
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dd3275010fa435e760d1ff2a04289eb1
https://doi.org/10.1111/ene.14094
https://doi.org/10.1111/ene.14094
Autor:
E. M. Vingolo, R. D. Fabio, S. Salvatore, G. Grieco, E. Bertini, V. Leuzzi, C. Nesti, A. Tessa, F. Pierelli, F. M. Santorelli, C. Casali, FILLA, ALESSANDRO
Publikováno v:
European journal of neurology. 18(9)
Myelinated retinal nerve fibers are considered a hallmark of autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) in French Canadian patients. The demonstration of a worldwide distribution of this disease, as well as the almost invariab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::b155fad8409779a0e84fb022b0895718
https://pubmed.ncbi.nlm.nih.gov/21410841
https://pubmed.ncbi.nlm.nih.gov/21410841
Autor:
C. Aiello, N. Cannelli, J.D. Cooper, M. Haltia, R. Herva, U. Lahtinen, A.-E. Lehesjoki, S.E. Mole, F. M. Santorelli, E. Siintola, A. Simonati
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::78331c9170f34577b5de0fa0c192b685
https://doi.org/10.1093/med/9780199590018.003.0012
https://doi.org/10.1093/med/9780199590018.003.0012
Autor:
M, Anheim, D, Chaigne, M, Fleury, F M, Santorelli, J, De Sèze, A, Durr, A, Brice, M, Koenig, C, Tranchant
Publikováno v:
Revue Neurologique
Revue Neurologique, Elsevier Masson, 2008, 164 (4), pp.363-368. ⟨10.1016/j.neurol.2008.02.001⟩
Revue Neurologique, Elsevier Masson, 2008, 164 (4), pp.363-368. ⟨10.1016/j.neurol.2008.02.001⟩
The autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a cerebellar ataxia autosomal recessively inherited characterized by an ataxic and pyramidal syndrome usually occurring near two years of age. The spastic paraparesis progressi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::25bfcf3e214e347c9121ac13ea0087d1
https://hal.archives-ouvertes.fr/hal-00283067
https://hal.archives-ouvertes.fr/hal-00283067
Autor:
S, Di Giandomenico, R, Masi, D, Cassandrini, M, El-Hachem, R, De Vito, C, Bruno, F M, Santorelli
Publikováno v:
Acta otorhinolaryngologica Italica : organo ufficiale della Societa italiana di otorinolaringologia e chirurgia cervico-facciale. 26(3)
Lipoid proteinosis is a rare autosomal recessive disorder, characterized histologically by infiltration of periodic acid Schiff-positive hyaline material into the skin, upper aerodigestive tract, and internal organs. Classical clinical features inclu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::7030ec49615c651c6f6af470569b6d01
https://pubmed.ncbi.nlm.nih.gov/17063986
https://pubmed.ncbi.nlm.nih.gov/17063986
Publikováno v:
Functional neurology. 16
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::80b91fd07daba58a5c6d7b507dec59e2
https://pubmed.ncbi.nlm.nih.gov/11996532
https://pubmed.ncbi.nlm.nih.gov/11996532
Autor:
A, Tessa, M L, Manca, M, Mancuso, M R, Renna, L, Murri, B, Martini, F M, Santorelli, G, Siciliano
Publikováno v:
Functional neurology. 15(4)
We report on a patient suffering from a progressive mitochondrial disorder characterized by ocular myopathy, exercise intolerance, and muscle wasting. Morphological examination of muscle biopsy showed increased variability in fiber size and scattered
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::cbb5a52ad59fd30b61e09aaff4752a65
https://pubmed.ncbi.nlm.nih.gov/11213524
https://pubmed.ncbi.nlm.nih.gov/11213524
Publikováno v:
Functional neurology. 15(2)
Migraine is a chronic illness interspersed with acute signs and symptoms which is currently defined, according to IHS criteria, in terms of "attacks". However, this should not lead us to ignore a critical point emerging from the simple observation of
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::4aca874d41f3a448e1a26a3fc54196fd
https://pubmed.ncbi.nlm.nih.gov/10916720
https://pubmed.ncbi.nlm.nih.gov/10916720