Zobrazeno 1 - 10
of 151
pro vyhledávání: '"B Azzarelli"'
Autor:
B. Azzarelli, Ruben Vidal, Hans-Hilmar Goebel, L. J. Cushman, Martin R. Farlow, Tatiana Foroud, Nathan Pankratz, H. Horak, Michael W. Pauciulo, Leticia Miravalle, William C. Nichols, A. P. Batchman
Publikováno v:
Neurology. 65:1936-1940
Background: Spheroid body myopathy (SBM) is a rare, autosomal dominant, neuromuscular disorder, which has only been previously reported in a single large kindred. Identification of the mutated gene in this disorder may provide insight regarding abnor
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::055e642da4158782f00d68f2d8b69a92
https://doi.org/10.1212/01.wnl.0000188872.28149.9a
https://doi.org/10.1212/01.wnl.0000188872.28149.9a
Publikováno v:
Seminars in Cerebrovascular Diseases and Stroke. 3:186-192
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b7cc4f4584755c44493d8147b4e90746
https://doi.org/10.1016/s1528-9931(03)80031-6
https://doi.org/10.1016/s1528-9931(03)80031-6
Publikováno v:
American Journal of Medical Genetics. 57:250-253
English setters from the Koppang line have been used as a model for the juvenile type of Batten disease in human patients. This disorder, canine ceroid-lipofuscinosis (CCL), has been shown by Koppang [1973: Mech Ageing Dev 2:421-445] to be an autosom
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c4d63a8b725a968246f3b4958828f700
https://doi.org/10.1002/ajmg.1320570228
https://doi.org/10.1002/ajmg.1320570228
Publikováno v:
Journal of neuro-oncology. 52(1)
Intense p53 immunostaining may predict for a poor prognosis in central nervous system primitive neuroectodermal tumor of childhood.Medulloblastoma is a common childhood primary brain tumor. Potential prognostic indicators for patients with local dise
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::c951200780402267cb7aba61c87b66b1
https://pubmed.ncbi.nlm.nih.gov/11451203
https://pubmed.ncbi.nlm.nih.gov/11451203
Publikováno v:
Archives of pathologylaboratory medicine. 121(12)
To examine the clinicopathologic features and perform flow cytometric DNA analysis of pediatric intracranial ependymomas to determine whether any of these parameters were predictors of clinical outcome.Flow cytometric DNA analysis was performed on 17
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::a04aecd7b10884a6ef76d244adad86c4
https://pubmed.ncbi.nlm.nih.gov/9431314
https://pubmed.ncbi.nlm.nih.gov/9431314
Autor:
H H, Goebel, A N, D'Agostino, J, Wilson, G, Cole, T, Foroud, D, Koller, M, Farlow, B, Azzarelli, J, Muller
Publikováno v:
Musclenerve. 20(9)
Having reported spheroid body myopathy from Indiana (IN) inherited in an autosomal-dominant fashion several years ago, we now describe additional findings from the Oregon branch--briefly recorded earlier--and confirm earlier studies in another clinic
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::0e9104489c84980bbc0bc6a5ec740ad1
https://pubmed.ncbi.nlm.nih.gov/9270668
https://pubmed.ncbi.nlm.nih.gov/9270668
Publikováno v:
Transactions of the American Ophthalmological Society. 94
PURPOSE: Two cases illustrate the symptoms, signs, etiologies, and treatment of ocular neuromyotonia (ONM). METHODS: The histories, neuroradiologic tests, and/or biopsy revealed the etiologies of ONM in both patients. Clinical observations, videotapi
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::bd97ada96a45cec243c21266353f9fca
https://pubmed.ncbi.nlm.nih.gov/8981697
https://pubmed.ncbi.nlm.nih.gov/8981697
Autor:
B Azzarelli, J. G. Edwards, L Maianu, A Johnson, W T Garvey, J. K. Wigglesworth, Dana S. Hardin, G Brechtel, A Baron
Publikováno v:
The Journal of clinical endocrinology and metabolism. 80(8)
Exercise is associated with increased insulin sensitivity. To better understand mechanisms that could be responsible for this association, we studied seven controls and seven endurance-trained athletes. A 600 mU/m2.min hyperinsulinemic euglycemic glu
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be8a26f793f5e06e99cd2e99ee6b8136
https://pubmed.ncbi.nlm.nih.gov/7629239
https://pubmed.ncbi.nlm.nih.gov/7629239
Publikováno v:
Neuroradiology. 37(6)
We describe CT and MRI appearances in two children with pathologically proven gliofibromas, in the cerebrum and cerebellum. A striking finding was lack of high signal on T2-weighted MRI.
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::889679c0e5c723691e41525f8b185dbb
https://pubmed.ncbi.nlm.nih.gov/7477865
https://pubmed.ncbi.nlm.nih.gov/7477865
Publikováno v:
American journal of clinical pathology. 93(6)
This report documents the occurrence of an extrarenal nephroblastoma from which a cerebellar metastasis developed in a four-year-old girl with spina bifida. The second tumor became symptomatic two years after the resection of the primary, suggesting
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a5b7dbcf83b7b0be5a8b288e66f65fd4
https://pubmed.ncbi.nlm.nih.gov/2161181
https://pubmed.ncbi.nlm.nih.gov/2161181