Varaico: Literature-Extracted Genetic Variants

Gene:GFAP
Variant:p.R70Q
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GFAP

NM_002055.5:p.R70Q

Associated Papers

A systematic review and meta-analysis of GFAP gene variants in Alexander disease.

Grossi A et al.

Scientific Reports, 2024

39420046 (PubMed )
Supplement: 41598_2024_75383_MOESM2_ESM.xlsx › Suppl._Table_2

A report of two cases of bulbospinal form Alexander disease and preliminary exploration of the disease.

Song X et al.

Molecular Medicine Reports, 2021

Neuropsychological features of adult form of Alexander disease.

Draghi L et al.

Journal of the Neurological Sciences, 2019

CSF and Blood Levels of GFAP in Alexander Disease

Jany PL et al.

Eneuro, 2015

Ceftriaxone for Alexander's Disease: A Four-Year Follow-Up.

Sechi G et al.

Jimd Reports, 2013

Nationwide survey of Alexander disease in Japan and proposed new guidelines for diagnosis.

Yoshida T et al.

Journal of Neurology, 2011

Strategies for treatment in Alexander disease.

Messing A et al.

Neurotherapeutics : the Journal of the American Society for Experimental Neurotherapeutics, 2010

Ceftriaxone has a therapeutic role in Alexander disease.

Sechi G et al.

Progress in Neuro-psychopharmacology & Biological Psychiatry, 2010

Adult-onset Alexander disease: a series of eleven unrelated cases with review of the literature.

Pareyson D et al.

Brain : a Journal of Neurology, 2008

Can MR imaging diagnose adult-onset Alexander disease?

Farina L et al.

Ajnr. American Journal of Neuroradiology, 2008

GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease.

Caroli F et al.

Clinical Genetics, 2007

[An atypical presentation of Infantile Alexander disease lacking macrocephaly].

Esmer C et al.

Boletin Medico Del Hospital Infantil De Mexico, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."