Results 61 to 70 of about 306,111 (180)
First person – Alexander Akerberg
Disease Models & Mechanisms, 2019 First Person is a series of interviews with the first authors of a selection of papers published in Disease Models & Mechanisms (DMM), helping early-career researchers promote themselves alongside their papers.
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, 2020 Alexander disease results from gain of function mutations in the gene encoding glial fibrillary acidic protein (GFAP). At least eight GFAP isoforms have been described, however, the predominant alpha isoform accounts for approximately 90% of GFAP protein.
Cross, Zachary +17 more
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GFAP and its role in Alexander disease
, 2007 Here we review how GFAP mutations cause Alexander disease. The current data suggest that a combination of events cause the disease. These include: (i) the accumulation of GFAP and the formation of characteristic aggregates, called Rosenthal fibers, (ii ...
Messing, A. +3 more
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Alexander disease: Early presence of cerebral MRI criteria
, 2009 Alexander disease is a rare neurodegenerative disorder. its most frequent subtype, the infantile form, is characterized by an early onset and a rapid neurological deterioration during the first months of life.
van der Knaap, M.S. +17 more
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Refining the concept of GFAP toxicity in Alexander disease
Journal of Neurodevelopmental Disorders, 2019 Background Alexander disease is caused by dominantly acting mutations in glial fibrillary acidic protein (GFAP), the major intermediate filament of astrocytes in the central nervous system.
Albee Messing
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Alexander disease: ventricular garlands and abnormalities of the medulla and spinal cord
, 2006 Alexander disease is most commonly associated with macrocephaly and, on MRI, a leukoencephalopathy with frontal preponderance. The disease is caused by mutation of the GFAP gene.
van der Voorn, J. P. +12 more
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Nature CommunicationsPompe disease (PD) is a rare autosomal recessive glycogen storage disorder that causes proximal muscle weakness and loss of respiratory function. While enzyme replacement therapy (ERT) is the only effective treatment, biomarkers for disease monitoring ...
Lina Tan +25 more
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, 2016 As the driving population ages, the number of drivers with visual impairment resulting from ocular disease will increase given the age-related prevalence of ocular disease.
Wood, Joanne M., Black, Alexander A.
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