Works matching Alexander disease
Results: 386
Familial Adult-Onset Alexander Disease with a Novel GFAP Mutation.
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- Movement Disorders Clinical Practice, 2016, v. 3, n. 3, p. 300, doi. 10.1002/mdc3.12296
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- Article
Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.
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- Acta Neuropathologica Communications, 2016, v. 4, p. 1, doi. 10.1186/s40478-016-0337-0
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- Article
Unusual presentations and intrafamilial phenotypic variability in infantile onset Alexander disease.
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- 2016
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- Publication type:
- journal article
Aggregation-prone GFAP mutation in Alexander disease validated using a zebrafish model.
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- 2017
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- journal article
Atypical MRI features in familial adult onset Alexander disease: case report.
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- 2016
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- Publication type:
- Case Study
Autonomic dysfunction in adult-onset alexander disease: A case report and review of the literature.
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- Clinical Autonomic Research, 2013, v. 23, n. 6, p. 333, doi. 10.1007/s10286-013-0205-y
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- Article
Quantitative Evaluation of Brain Stem Atrophy Using Magnetic Resonance Imaging in Adult Patients with Alexander Disease.
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- European Neurology, 2017, v. 77, n. 5/6, p. 296, doi. 10.1159/000475661
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- Article
Alexander disease: an astrocytopathy that produces a leukodystrophy.
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- Brain Pathology, 2018, v. 28, n. 3, p. 388, doi. 10.1111/bpa.12601
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- Article
Type 2 Alexander disease with a novel glial fibrillary acidic protein gene mutation and its unique clinical features.
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- Neurology & Clinical Neuroscience, 2017, v. 5, n. 6, p. 183, doi. 10.1111/ncn3.12146
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- Article
Astrocyte pathology in Alexander disease causes a marked inflammatory environment.
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- Acta Neuropathologica, 2015, v. 130, n. 4, p. 469, doi. 10.1007/s00401-015-1469-1
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- Article
Synemin is expressed in reactive astrocytes and Rosenthal fibers in Alexander disease.
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- APMIS, 2014, v. 122, n. 1, p. 76, doi. 10.1111/apm.12088
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- Article
The origin of Rosenthal fibers and their contributions to astrocyte pathology in Alexander disease.
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- Acta Neuropathologica Communications, 2017, v. 5, p. 1, doi. 10.1186/s40478-017-0425-9
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- Article
Alexander Disease Mutations Produce Cells with Coexpression of Glial Fibrillary Acidic Protein and NG2 in Neurosphere Cultures and Inhibit Differentiation into Mature Oligodendrocytes.
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- Frontiers in Neurology, 2017, p. 1, doi. 10.3389/fneur.2017.00255
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- Article
Functional characterization of a GFAP variant of uncertain significance in an Alexander disease case within the setting of an individualized medicine clinic.
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- Clinical Case Reports, 2016, v. 4, n. 9, p. 885, doi. 10.1002/ccr3.655
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- Article
Alexander's disease and the story of Louise.
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- 2018
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- Publication type:
- journal article
Reduced cerebrospinal fluid monoamines in Alexander's disease: a clue to a symptomatic therapy.
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- 2018
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- Publication type:
- Letter to the Editor
A novel adult case of juvenile-onset Alexander disease: complete remission of neurological symptoms for over 12 years, despite insidiously progressive cervicomedullary atrophy.
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- Neurological Sciences, 2012, v. 33, n. 6, p. 1389, doi. 10.1007/s10072-011-0902-z
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- Publication type:
- Article
GFAP canonical transcript may not be suitable for the diagnosis of adult-onset Alexander disease.
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- 2018
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- Publication type:
- Letter to the Editor
Lithium Decreases Glial Fibrillary Acidic Protein in a Mouse Model of Alexander Disease.
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- PLoS ONE, 2015, v. 10, n. 9, p. 1, doi. 10.1371/journal.pone.0138132
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- Article
Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease.
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- 2018
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- journal article
Alexander Disease.
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- Journal of Child Neurology, 2017, v. 32, n. 2, p. 184, doi. 10.1177/0883073816673263
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- Article
Alexander Disease.
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- Journal of Child Neurology, 2016, v. 31, n. 7, p. 869, doi. 10.1177/0883073815624762
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- Article
Alexander disease in a dog: case presentation of electrodiagnostic, magnetic resonance imaging and histopathologic findings with review of literature.
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- BMC Veterinary Research, 2015, v. 11, n. 1, p. 1, doi. 10.1186/s12917-015-0393-x
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- Article
Towards genomic database of Alexander disease to identify variations modifying disease phenotype.
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- Scientific Reports, 2019, v. 9, n. 1, p. N.PAG, doi. 10.1038/s41598-019-51390-8
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- Article
Infantile Onset Alexander Disease with Normal Head Circumference: A Genetically Proven Case Report.
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- Journal of Clinical & Diagnostic Research, 2014, v. 8, n. 11, p. 3, doi. 10.7860/JCDR/2014/10211.5200
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- Publication type:
- Article
Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations.
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- Journal of Human Genetics, 2013, v. 58, n. 4, p. 183, doi. 10.1038/jhg.2012.152
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- Publication type:
- Article
The first Korean case of adult-onset Alexander disease.
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- 2014
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- Publication type:
- Case Study
A new mutation in GFAP widens the spectrum of Alexander disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 1, doi. 10.1038/ejhg.2014.99
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- Article
Identification of a novel nonsense mutation in the rod domain of GFAP that is associated with Alexander disease.
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- European Journal of Human Genetics, 2015, v. 23, n. 1, p. 72, doi. 10.1038/ejhg.2014.68
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- Article
A novel GFAP mutation in a type II (late-onset) Alexander disease patient.
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- 2016
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- Publication type:
- Letter
Long-term follow-up of a case of adult-onset Alexander disease presenting with cognitive impairment as the initial symptom.
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- 2017
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- Publication type:
- Case Study
Erratum to: Modeling Alexander disease with patient iPSCs reveals cellular and molecular pathology of astrocytes.
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- 2016
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- Publication type:
- Correction Notice
Adult Alexander disease with de novo c.1193C>T heterozygous variant in GFAP gene.
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- 2016
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- Publication type:
- Case Study
Poster 242: A Case Report of Adult Onset Alexander's Disease in an Acute Inpatient Rehabilitation Setting: A Case Report.
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- 2010
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- Publication type:
- Abstract
An In Vivo Pharmacological Screen Identifies Cholinergic Signaling as a Therapeutic Target in Glial-Based Nervous System Disease.
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- Journal of Neuroscience, 2016, v. 36, n. 5, p. 1445, doi. 10.1523/JNEUROSCI.0256-15.2016
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- Publication type:
- Article
Ser-59 is the major phosphorylation site in αB-crystallin accumulated in the brains of patients with Alexander's disease.
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- Journal of Neurochemistry, 2001, v. 76, n. 3, p. 730, doi. 10.1046/j.1471-4159.2001.00038.x
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- Article
Neuropsychological Functioning in Alexander Disease: A Case Series.
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- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211048614
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- Article
Neuropsychological Functioning in Alexander Disease: A Case Series.
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- Child Neurology Open, 2021, p. 1, doi. 10.1177/2329048X211048614
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- Publication type:
- Article
Alexander disease as a cause of nocturnal vomiting in a 7-year-old girl.
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- 2009
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- Publication type:
- Report
GFAP mutations in Alexander disease
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- International Journal of Developmental Neuroscience, 2002, v. 20, n. 3-5, p. 259, doi. 10.1016/S0736-5748(02)00019-9
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- Publication type:
- Article
Clinical and gene mutation analysis on Alexander's disease type II caused by a novel GFAP mutation.
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- Chinese Journal of Contemporary Neurology & Neurosurgery, 2019, v. 19, n. 3, p. 199, doi. 10.3969/j.issn.1672-6731.2019.03.010
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- Article
A case report of adult-onset Alexander disease clinically presenting as Parkinson's disease: is the comorbidity associated with genetic susceptibility?
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- 2020
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- Publication type:
- journal article
Adult-onset Alexander disease.
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- Journal of Neurology, 2008, v. 255, n. 1, p. 24, doi. 10.1007/s00415-007-0654-0
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- Publication type:
- Article
An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein.
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- Journal of Neurology, 2007, v. 254, n. 10, p. 1390, doi. 10.1007/s00415-007-0557-0
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- Publication type:
- Article
Fetal-onset Alexander disease with radiological-neuropathological correlation.
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- Pediatric Radiology, 2023, v. 53, n. 10, p. 2149, doi. 10.1007/s00247-023-05710-w
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- Article
Adult‐onset Alexander disease with imperceptible neurological findings.
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- Neurology & Clinical Neuroscience, 2021, v. 9, n. 4, p. 361, doi. 10.1111/ncn3.12520
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- Publication type:
- Article
Neurocognitive Decline in Alexander Disease.
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- Clinical Neuropsychologist, 2011, v. 25, n. 7, p. 1266, doi. 10.1080/13854046.2011.604043
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- Publication type:
- Article
Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease.
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- European Journal of Human Genetics, 2008, v. 16, n. 4, p. 462, doi. 10.1038/sj.ejhg.5201995
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- Publication type:
- Article
Alexander's disease: reassessment of a neonatal form.
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- Child's Nervous System, 2012, v. 28, n. 12, p. 2029, doi. 10.1007/s00381-012-1868-8
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- Publication type:
- Article
Adult‐onset Alexander disease with unusual inflammatory features and a novel GFAP mutation in two patients.
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- Neuropathology & Applied Neurobiology, 2023, v. 49, n. 4, p. 1, doi. 10.1111/nan.12927
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- Publication type:
- Article