Alexander’s disease: reassessment of a neonatal form

被引：0

作者：

Navneet Singh

Catherine Bixby

Denzil Etienne

R. Shane Tubbs

Marios Loukas

机构：

[1] St George’s University,Department of Anatomical Sciences, School of Medicine

[2] Varmia and Mazuria Medical School,Department of Anatomy

[3] Children’s Hospital,Pediatric Neurosurgery

来源：

Child's Nervous System | 2012年 / 28卷

关键词：

Alexander disease; Neonatal; Infantile; Leukodystrophy;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：2029 / 2031

页数：2

共 130 条

[1]

Brenner M(2001)Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease Nat Gen 27 117-120

[2]

Johnson AB(2005)Alexander-disease mutation of GFAP causes filament disorganization and decreased solubility of GFAP J Cell Sci 118 2057-2065

[3]

Boespflug-Tanguy O(2003)Alexander’s disease: clinical, pathologic, and genetic features J Child Neurol 18 625-632

[4]

Rodriguez D(2010)Strategies for treatment in Alexander disease Neurotherapeutics 7 507-515

[5]

Goldman JE(1993)Alexander’s disease: clues to diagnosis J Child Neurol 8 134-144

[6]

Messing A(2011)GFAP mutations, age at onset, and clinical subtypes in Alexander disease Neurology 77 1287-1294

[7]

Hsiao VC(2001)Infantile Alexander disease: spectrum of GFAP mutations and genotype–phenotype correlation Am J Hum Genet 69 1134-1140

[8]

Tian R(1976)Alexander’s disease: a report and reappraisal Neurology 26 607-614

[9]

Long H(2000)Alexander disease—classification revisited and isolation of a neonatal form Neuropediatrics 31 86-92

[10]

Der Perng M(1985)Alexander’s disease Acta Neuropathol 67 163-166