Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene (original) (raw)
Related papers
Extensive cerebral white matter abnormality without clinical symptoms: A new hereditary condition?
Annals of Neurology, 1999
MS#027 Rantamaki M Neurology 57 1043 1049 2001
Focal Central White Matter Lesions in Alexander Disease
Journal of Child Neurology, 2011
Familial Adult-onset Alexander Disease: Clinical and Neuroradiological Findings of Three Cases
Noro Psikiyatri Arsivi, 2016
Journal of Neurology, 2009
Teaching NeuroImages: Late-onset Alexander disease
Neurology, 2014
BMC Neurology, 2010
Neuropathology: a reference text of CNS pathology
Rosenthal Fiber Encephalopathy in a Dog Resembling Alexander Disease in Humans
Veterinary Pathology, 2006
Idiopathic central pontine myelinolysis in childhood
Developmental Medicine and Child Neurology, 2001
A case report of leukoencephalopathy with vanishing white matter disease
International Journal of Contemporary Pediatrics, 2020
Clinical and MRI findings of cerebellar agenesis in two living adult patients
Annals of Indian Academy of Neurology, 2015
bilateral striatal necrosis.pdf
Childhood ataxia with diffuse central nervous system hypomyelination
Annals of Neurology, 1994
Axonal Dysfunction in the Deep White Matter in Machado���Joseph Disease
2009
Movement Disorders, 2008
Review of Alexander disease: Beyond the classical concept of leukodystrophy
Brain and Development, 2009
Critical evaluation of cerebrospinal fluid alterations in neuroschistosomiasis
Arquivos de Neuro-Psiquiatria, 2000
2010
Brain stem gliosis in a case with clinical manifestations of amyotrophic lateral sclerosis
Psychiatry and …, 1976
Neurological Sciences, 2012
European Journal of Paediatric Neurology, 2002
A Japanese girl with leukoencephalopathy with vanishing white matter
Brain and Development, 2001
Five year follow up of a patient with spinal and bulbar muscular atrophy treated with leuprorelin
Journal of Neurology, Neurosurgery & Psychiatry, 2004
White matter abnormalities on MRI in neuroacanthocytosis
Journal of Neurology, Neurosurgery & Psychiatry, 2004
A Mutation in the ACTA1 gene Manifesting Nemaline Myopathy with Central Nervous System Lesions
Journal of clinical neurology (Seoul, Korea), 2017
Giant Axonal Neuropathy: MRS Findings
Journal of Neuroimaging, 2003
Atypical presentation of infantile Alexander disease without macrocephaly
Boletín Médico Del Hospital Infantil de México (English Edition), 2017
A Clinical and Neuropathological Study of 2 Families
2002
New syndrome characterized by hypomyelination with atrophy of the basal ganglia and cerebellum
AJNR. American journal of neuroradiology, 2002
Adult-onset vanishing white matter disease presenting as dementia
Annals of Alzheimer's and Dementia Care, 2021
Alexander disease with serial MRS and a new mutation in the glial fibrillary acidic protein gene
Neurology, 2003