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Hereditary Alexander's disease
Neurology, 1997To the Editor: We appreciated the report by Schwankhaus et al. [1] describing a family with hereditary adult-onset Alexander's disease. This report emphasizes the possible role of genetics in the different forms of Alexander's disease. We contribute our case of an adult form of Alexander's disease previously reported.
J. Honnorat, P. Trouillas
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GFAP mutations in Alexander disease
International Journal of Developmental Neuroscience, 2002AbstractAlexander disease is a rare but often fatal disease of the central nervous system. Infantile, juvenile and adult forms have been described that present with different clinical signs, but are unified by the characteristic presence in astrocytes of Rosenthal fibers–protein aggregates that contain glial fibrillary acidic protein (GFAP) and small ...
Rong, Li +3 more
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Pediatrie, 1991
Alexander disease, or hypoproconvertinemia is a rare autosomic recessive coagulation disorder. The features include familial and/or personal history of bleeding, with an abnormal prothrombin period and a normal activated partial thromboplastin period. Coagulation and genetic studies allow subclassification with prognosis incidence for this disease. The
J C, Elian +4 more
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Alexander disease, or hypoproconvertinemia is a rare autosomic recessive coagulation disorder. The features include familial and/or personal history of bleeding, with an abnormal prothrombin period and a normal activated partial thromboplastin period. Coagulation and genetic studies allow subclassification with prognosis incidence for this disease. The
J C, Elian +4 more
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Type I Alexander disease: Update and validation of the clinical evolution-based classification.
Molecular Genetics and Metabolism, 2023Ylenia Vaia, Eleonora Mura, D. Tonduti
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Alexander disease: diagnosis with MR imaging.
AJNR. American journal of neuroradiology, 2001To date, the demonstration of Rosenthal fibers on brain biopsy or autopsy specimens is considered a prerequisite for a definitive diagnosis of Alexander disease. We initiated a multiinstitutional survey of MR abnormalities in both presumed and confirmed cases of Alexander disease to assess the possibility of an MR-based diagnosis.MR imaging studies in ...
Van der Knaap, M. S. +11 more
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2004
Abstract The brain biopsy specimen demonstrated excessive deposition of Rosenthal fibers in the gray and white matter of the middle cerebellar peduncle compatible with adult Alexander’s disease. The infantile form of this central nervous system disorder was first described by Alexander in 1949.
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Abstract The brain biopsy specimen demonstrated excessive deposition of Rosenthal fibers in the gray and white matter of the middle cerebellar peduncle compatible with adult Alexander’s disease. The infantile form of this central nervous system disorder was first described by Alexander in 1949.
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