Results 101 to 110 of about 306,111 (180)

Progressive Spastic Paraparesis as the Dominant Manifestation of Adolescent-Onset Alexander Disease: Case Report and Literature Review. [PDF]

J Clin Med
Smółka KA, Smółka L, Guz W, Chaber E, Perenc L.   +4 more
europepmc   +1 more source

Alexander disease - Ventricular garlands and abnormalities of the medulla and spinal cord

Background: 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.
Ramesh V, van Dooren SJM, van der Knaap MS, Blaser S, Ellison DW, Schiffmann R, Gholkar A, van der Voorn JP, Jakobs C, Salomons GS, Kyllerman M, Barkhof F   +11 more
core  

Erratum: Genotype-Phenotype Association for 14 <i>GFAP</i> Variants in Alexander Disease. [PDF]

Neurol Genet
Messing A, Waldman AT, Bolt DM.
europepmc   +1 more source

Effects of Alexander disease-associated mutations on the assembly and organization of GFAP intermediate filaments. [PDF]

Mol Biol Cell, 2022
Yang AW, Lin NH, Yeh TH, Snider N, Perng MD.   +4 more
europepmc   +1 more source

Genotype-Phenotype Association for 14 <i>GFAP</i> Variants in Alexander Disease. [PDF]

Neurol Genet
Messing A, Waldman AT, Bolt DM.
europepmc   +1 more source

Does genetic anticipation occur in familial Alexander disease? [PDF]

Neurogenetics, 2021
Hunt CK, Al Khleifat A, Burchill E, Ederle J, Al-Chalabi A, Sreedharan J.   +5 more
europepmc   +1 more source

Adult-Onset Alexander Disease: A Case Report and Literature Review of Glu207 Alterations. [PDF]

Cureus
Vallamchetla SK, Abdelkader O, Tuna IS, Barsamyan G, Shuhaiber H.   +4 more
europepmc   +1 more source

Growth Differentiation Factor 15 Elevation in the Central Nervous System Is Associated With Failure to Thrive in Alexander Disease. [PDF]

Ann Clin Transl Neurol
Hagemann TL, Sonsalla MM, Luzinski C, Zacahua F, Harris DA, Lamming DW, Messing A.   +6 more
europepmc   +1 more source

Visualizing the phenotype diversity: a case study of Alexander disease. [PDF]

Genomics Inform, 2021
Dohi E, Bangash AH.
europepmc   +1 more source

Self-silencing <i>GFAP</i> missense alleles in familial subclinical Alexander disease: implications for therapy. [PDF]

J Neurol Neurosurg Psychiatry
Bachetti T, Magri S, Balistreri F, Rosamilia F, Coco S, Rosano C, Moscatelli M, Sarto E, Di Bella D, Salsano E, Ceccherini I, Taroni F.   +11 more
europepmc   +1 more source