GFAP ELISA Kit for Human(Homo sapiens) | EIAab.comGFAP ELISA Kit for Human(Homo sapiens)

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GFAP (Gene name),

Glial fibrillary acidic protein (Protein name ), GFAP_HUMAN from NCBI database.

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General Annotation

Antigen Annotation

Predicted Eptitope

Vaild Sequence

Related Databases

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Gene name:

GFAP;

Protein name:

Glial fibrillary acidic protein(GFAP);

Alternative:

Organism:

Human (Homo sapiens).

General Annotation

Sub Unit:

Interacts with SYNM (By similarity). Isoform 3 interacts with PSEN1 (via N-terminus).

Function:

GFAP, a class-III intermediate filament, is a cell-specific marker that, during the development of the central nervous system, distinguishes astrocytes from other glial cells.

Subcellular Location:

Cytoplasm Associated with intermediate filaments.

Protein Attributes:

Sequence length:

432

Sequence:

50:

100:

150:

200:

250:

300:

350:

400:

432:

EGHLKRNIVV | KTVEMRDGEV | IKESKQEHKD | VM

3D Structure:

N/A

Predicted Eptitope:

Please Sign in.

Vaild Sequence:

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Related Databases

MIM:

137780

UniGene:

Hs.514227

Pfam:

PF00038

KEGG:

hsa:2670

SMR:

P14136

String:

P14136

Uniprot:

P14136

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ELISA Kit for Human GFAP

Cat.:

E0068m

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96T

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ELISA Kit for Human GFAP

Cat.:

E0068r

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96T

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ELISA Kit for Human GFAP

Cat.:

E0068h

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96T

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ELISA Kit for Human GFAP

Cat.:

E0068b

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Packing:

96T

CLIA Kit for Human GFAP

Cat.:

U0068b

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MSDS:

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Packing:

96T

CLIA Kit for Human GFAP

Cat.:

U0068h

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Looking for manual.

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96T

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CLIA Kit for Human GFAP

Cat.:

U0068r

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Looking for manual.

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96T

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CLIA Kit for Human GFAP

Cat.:

U0068m

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Looking for manual.

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Packing:

96T

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Polyclonal Antibody for Human GFAP

Cat.:

P0068Rb-m

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Packing:

40ug/0.2ml

Polyclonal Antibody for Human GFAP

Cat.:

P0068Rb-r

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40ug/0.2ml

Polyclonal Antibody for Human GFAP

Cat.:

P0068Rb-h

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40ug/0.2ml

Monoclonal Antibody for Human GFAP

Cat.:

M0068b

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40ug

Monoclonal Antibody for Human GFAP

Cat.:

M0068h

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40ug

Monoclonal Antibody for Human GFAP

Cat.:

M0068m

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Packing:

40ug

Monoclonal Antibody for Human GFAP

Cat.:

M0068r

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Packing:

40ug

Protein for Human GFAP

R&D Technical Data

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Precision

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Recovery

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

Linearity

For more information, please refer to the manual,Or contact our technical support: tech@eiaab.com.

References

1.

"Molecular cloning and primary structure of human glial fibrillary acidic protein."
Reeves S.A. , Helman L.J. , Allison A. , Israel M.A.
Proc. Natl. Acad. Sci. U.S.A.86:5178-5182(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
2.

"Characterization of human cDNA and genomic clones for glial fibrillary acidic protein."
Brenner M. , Lampel K. , Nakatani Y. , Mill J. , Banner C. , Mearow K. , Dohadwala M. , Lipsky R. , Freese E.
Brain Res. Mol. Brain Res.7:277-286(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
3.

"Human glial fibrillary acidic protein: complementary DNA cloning, chromosome localization, and messenger RNA expression in human glioma cell lines of various phenotypes."
Bongcam-Rudloff E. , Nister M. , Betsholtz C. , Wang J.-L. , Stenman G. , Huebner K. , Croce C.M. , Westermark B.
Cancer Res.51:1553-1560(1991) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);TISSUE SPECIFICITY
4.

"Human glial fibrillary acidic protein (GFAP): molecular cloning of the complete cDNA sequence and chromosomal localization (chromosome 17) of the GFAP gene."
Kumanishi T. , Usui H. , Ichikawa T. , Nishiyama A. , Katagiri T. , Abe S. , Yoshida Y. , Washiyama K. , Kuwano R. , Sakimura K.
Acta Neuropathol.83:569-578(1992) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
5.

"Determination of the gene structure of human GFAP and absence of coding region mutations associated with frontotemporal dementia with parkinsonism linked to chromosome 17."
Isaacs A. , Baker M. , Wavrant-De Vrieze F. , Hutton M.
Genomics51:152-154(1998) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1);VARIANT ASN-295
6.

Han C. , Zhang B. , Zhou Y. , Peng X. , Yuan J. , Qiang B.
Submitted (2001-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1)
7.

"Complete sequencing and characterization of 21,243 full-length human cDNAs."
Ota T. , Suzuki Y. , Nishikawa T. , Otsuki T. , Sugiyama T. , Irie R. , Wakamatsu A. , Hayashi K. , Sato H. , Nagai K. , Kimura K. , Makita H. , Sekine M. , Obayashi M. , Nishi T. , Shibahara T. , Tanaka T. , Ishii S. , more...
Nat. Genet.36:40-45(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 1 AND 3)
tissue: Brain.
tissue: Thalamus.
8.

Suzuki Y. , Sugano S. , Totoki Y. , Toyoda A. , Takeda T. , Sakaki Y. , Tanaka A. , Yokoyama S.
Submitted (2005-04) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue: Brain.
9.

"The full-ORF clone resource of the German cDNA consortium."
Bechtel S. , Rosenfelder H. , Duda A. , Schmidt C.P. , Ernst U. , Wellenreuther R. , Mehrle A. , Schuster C. , Bahr A. , Bloecker H. , Heubner D. , Hoerlein A. , Michel G. , Wedler H. , Koehrer K. , Ottenwaelder B. , Poustka A. , Wiemann S. , more...
BMC Genomics8:399-399(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 2)
tissue: Kidney.
10.

"DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage."
Zody M.C. , Garber M. , Adams D.J. , Sharpe T. , Harrow J. , Lupski J.R. , Nicholson C. , Searle S.M. , Wilming L. , Young S.K. , Abouelleil A. , Allen N.R. , Bi W. , Bloom T. , Borowsky M.L. , Bugalter B.E. , Butler J. , Chang J.L. , more...
Nature440:1045-1049(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
11.

Mural R.J. , Istrail S. , Sutton G.G. , Florea L. , Halpern A.L. , Mobarry C.M. , Lippert R. , Walenz B. , Shatkay H. , Dew I. , Miller J.R. , Flanigan M.J. , Edwards N.J. , Bolanos R. , Fasulo D. , Halldorsson B.V. , Hannenhalli S. , Turner R. , more...
Submitted (2005-09) to the EMBL/GenBank/DDBJ databases

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA]
12.

"The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
The MGC Project Team
Genome Res.14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1)
tissue: Brain.
13.

"An RNA polymerase II promoter containing sequences upstream and downstream from the RNA startpoint that direct initiation of transcription from the same site."
Nakatani Y. , Brenner M. , Freese E.
Proc. Natl. Acad. Sci. U.S.A.87:4289-4293(1990) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 1-76
14.

Lubec G. , Chen W.-Q. , Sun Y.
Submitted (2008-12) to the UniProtKB

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PROTEIN SEQUENCE OF 13-29; 50-63; 96-105; 112-121; 163-173; 189-198; 261-270; 288-300; 331-367 AND 377-390;IDENTIFICATION BY MASS SPECTROMETRY
tissue: Fetal brain cortex.
15.

"Changes in brain gene expression shared by scrapie and Alzheimer disease."
Duguid J.R. , Bohmont C.W. , Liu N.G. , Tourtellotte W.W.
Proc. Natl. Acad. Sci. U.S.A.86:7260-7264(1989) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 352-417
16.

"A new splice variant of glial fibrillary acidic protein GFAPepsilon, interacts with the presenilin proteins."
Nielsen A.L. , Holm I.E. , Johansen M. , Bonven B. , Jorgensen P. , Jorgensen A.L.
J. Biol. Chem.277:29983-29991(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: NUCLEOTIDE SEQUENCE [MRNA] OF 391-432 (ISOFORM 3);SUBCELLULAR LOCATION;INTERACTION WITH PSEN1
tissue: Fetal brain.
17.

"Genetic polymorphism and sequence evolution of an alternatively spliced exon of the glial fibrillary acidic protein gene, GFAP."
Singh R. , Nielsen A.L. , Johansen M.G. , Jorgensen A.L.
Genomics82:185-193(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PARTIAL NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 391-432 (ISOFORM 3);VARIANTS
tissue: Blood.
18.

"Domain-specific phosphorylation of vimentin and glial fibrillary acidic protein by PKN."
Matsuzawa K. , Kosako H. , Inagaki N. , Shibata H. , Mukai H. , Ono Y. , Amano M. , Kaibuchi K. , Matsuura Y. , Azuma I. , Inagaki M.
Biochem. Biophys. Res. Commun.234:621-625(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION
19.

"Phosphorylation of glial fibrillary acidic protein at the same sites by cleavage furrow kinase and Rho-associated kinase."
Kosako H. , Amano M. , Yanagida M. , Tanabe K. , Nishi Y. , Kaibuchi K. , Inagaki M.
J. Biol. Chem.272:10333-10336(1997) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT THR-7; SER-13 AND SER-38
20.

"Functional significance of the specific sites phosphorylated in desmin at cleavage furrow: Aurora-B may phosphorylate and regulate type III intermediate filaments during cytokinesis coordinatedly with Rho-kinase."
Kawajiri A. , Yasui Y. , Goto H. , Tatsuka M. , Takahashi M. , Nagata K. , Inagaki M.
Mol. Biol. Cell14:1489-1500(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: PHOSPHORYLATION AT THR-7; SER-13 AND SER-38
21.

"Identification and Characterization of citrulline-modified brain proteins by combining HCD and CID fragmentation."
Jin Z. , Fu Z. , Yang J. , Troncosco J. , Everett A.D. , Van Eyk J.E.
Proteomics13:2682-2691(2013) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: CITRULLINATION AT ARG-30; ARG-36; ARG-270; ARG-406 AND ARG-416
22.

"Mutations in GFAP, encoding glial fibrillary acidic protein, are associated with Alexander disease."
Brenner M. , Johnson A.B. , Boespflug-Tanguy O. , Rodriguez D. , Goldman J.E. , Messing A.
Nat. Genet.27:117-120(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: INVOLVEMENT IN ALEXD;VARIANTS ALEXD CYS-79; HIS-79; CYS-239; HIS-239; PRO-258 AND TRP-416;VARIANTS LEU-47 AND ASN-295
23.

"Infantile Alexander disease: spectrum of GFAP mutations and genotype-phenotype correlation."
Rodriguez D. , Gauthier F. , Bertini E. , Bugiani M. , Brenner M. , N'guyen S. , Goizet C. , Gelot A. , Surtees R. , Pedespan J.M. , Hernandorena X. , Troncoso M. , Uziel G. , Messing A. , Ponsot G. , Pham-Dinh D. , Dautigny A. , Boespflug-Tanguy O.
Am. J. Hum. Genet.69:1134-1140(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD PHE-76; TYR-77; HIS-79; CYS-88; SER-88; CYS-239 AND HIS-239
24.

"A novel mutation in glial fibrillary acidic protein gene in a patient with Alexander disease."
Aoki Y. , Haginoya K. , Munakata M. , Yokoyama H. , Nishio T. , Togashi N. , Ito T. , Suzuki Y. , Kure S. , Iinuma K. , Brenner M. , Matsubara Y.
Neurosci. Lett.312:71-74(2001) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD VAL-244
25.

"Molecular findings in symptomatic and pre-symptomatic Alexander disease patients."
Gorospe J.R. , Naidu S. , Johnson A.B. , Puri V. , Raymond G.V. , Jenkins S.D. , Pedersen R.C. , Lewis D. , Knowles P. , Fernandez R. , De Vivo D. , van der Knaap M.S. , Messing A. , Brenner M. , Hoffman E.P.
Neurology58:1494-1500(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD ARG-73; GLY-79; CYS-79; HIS-79; CYS-88; CYS-239; ASP-242; LYS-373 AND TRP-416
26.

"Juvenile Alexander disease with a novel mutation in glial fibrillary acidic protein gene."
Sawaishi Y. , Yano T. , Takaku I. , Takada G.
Neurology58:1541-1543(2002) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD ASP-362
27.

"Adult Alexander disease with autosomal dominant transmission: a distinct entity caused by mutation in the glial fibrillary acid protein gene."
Stumpf E. , Masson H. , Duquette A. , Berthelet F. , McNabb J. , Lortie A. , Lesage J. , Montplaisir J. , Brais B. , Cossette P.
Arch. Neurol.60:1307-1312(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD GLU-78
28.

"Molecular genetic study in Japanese patients with Alexander disease: a novel mutation, R79L."
Shiroma N. , Kanazawa N. , Kato Z. , Shimozawa N. , Imamura A. , Ito M. , Ohtani K. , Oka A. , Wakabayashi K. , Iai M. , Sugai K. , Sasaki M. , Kaga M. , Ohta T. , Tsujino S.
Brain Dev.25:116-121(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD LEU-79
29.

"A novel GFAP mutation and disseminated white matter lesions: adult Alexander disease?"
Brockmann K. , Meins M. , Taubert A. , Trappe R. , Grond M. , Hanefeld F.
Eur. Neurol.50:100-105(2003) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT GLN-223
30.

"A case of infantile Alexander disease with a milder phenotype and a novel GFAP mutation, L90P."
Suzuki Y. , Kanazawa N. , Takenaka J. , Okumura A. , Negoro T. , Tsujino S.
Brain Dev.26:206-208(2004) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD PRO-90
31.

"Glial fibrillary acidic protein mutations in infantile, juvenile, and adult forms of Alexander disease."
Li R. , Johnson A.B. , Salomons G. , Goldman J.E. , Naidu S. , Quinlan R. , Cree B. , Ruyle S.Z. , Banwell B. , D'Hooghe M. , Siebert J.R. , Rolf C.M. , Cox H. , Reddy A. , Gutierrez-Solana L.G. , Collins A. , Weller R.O. , Messing A. , more...
Ann. Neurol.57:310-326(2005) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS LEU-47; ILE-115; ASN-157 AND GLN-223;VARIANTS ALEXD GLN-63; THR-73; PHE-76; VAL-76; SER-77; CYS-79; CYS-88; PRO-97; LYS-207; GLN-207; LYS-210; PRO-235; CYS-239; HIS-239; PRO-239; VAL-244; GLY-253; GLU-279; PRO-352; VAL-359; PRO-364; HIS-366; LYS-373; GLN-373; GLY-374 AND TRP-416;CHARACTERIZATION OF VARIANTS ALEXD GLN-63; LYS-210; VAL-244 AND GLY-253
32.

"A case of infantile Alexander disease accompanied by infantile spasms diagnosed by DNA analysis."
Lee J.M. , Kim A.S. , Lee S.J. , Cho S.M. , Lee D.S. , Choi S.M. , Kim D.K. , Ki C.S. , Kim J.W.
J. Korean Med. Sci.21:954-957(2006) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD LEU-239
33.

"Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene."
Hinttala R. , Karttunen V. , Karttunen A. , Herva R. , Uusimaa J. , Remes A.M.
Acta Neuropathol.114:543-545(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD PRO-267
34.

"GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease."
Caroli F. , Biancheri R. , Seri M. , Rossi A. , Pessagno A. , Bugiani M. , Corsolini F. , Savasta S. , Romano S. , Antonelli C. , Romano A. , Pareyson D. , Gambero P. , Uziel G. , Ravazzolo R. , Ceccherini I. , Filocamo M.
Clin. Genet.72:427-433(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD TRP-70; GLN-70; LYS-73; SER-77; CYS-79; PRO-79; CYS-88; HIS-239; PRO-239; PRO-359 AND TRP-416
35.

"An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein."
Ohnari K. , Yamano M. , Uozumi T. , Hashimoto T. , Tsuji S. , Nakagawa M.
J. Neurol.254:1390-1394(2007) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD THR-74
36.

"Clinical and genetic study in Chinese patients with Alexander disease."
Ye W. , Qiang G. , Jingmin W. , Yanling Y. , Xiru W. , Yuwu J.
J. Child Neurol.23:173-177(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD HIS-83 AND CYS-88
37.

"Adult-onset Alexander disease: report on a family."
Balbi P. , Seri M. , Ceccherini I. , Uggetti C. , Casale R. , Fundaro C. , Caroli F. , Santoro L.
J. Neurol.255:24-30(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD GLY-330 AND LYS-332
38.

"Adult-onset Alexander disease with progressive ataxia and palatal tremor."
Howard K.L. , Hall D.A. , Moon M. , Agarwal P. , Newman E. , Brenner M.
Mov. Disord.23:118-122(2008) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD CYS-257;CHARACTERIZATION OF VARIANT ALEXD CYS-257
39.

"Novel GFAP mutation in patient with adult-onset Alexander disease presenting with spastic ataxia."
Kaneko H. , Hirose M. , Katada S. , Takahashi T. , Naruse S. , Tsuchiya M. , Yoshida T. , Nakagawa M. , Onodera O. , Nishizawa M. , Ikeuchi T.
Mov. Disord.24:1393-1395(2009) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD PRO-101
40.

"Adult-onset Alexander disease with typical 'tadpole' brainstem atrophy and unusual bilateral basal ganglia involvement: a case report and review of the literature."
Namekawa M. , Takiyama Y. , Honda J. , Shimazaki H. , Sakoe K. , Nakano I.
BMC Neurol.10:21-21(2010) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD LEU-276
41.

"GFAP mutations, age at onset, and clinical subtypes in Alexander disease."
Prust M. , Wang J. , Morizono H. , Messing A. , Brenner M. , Gordon E. , Hartka T. , Sokohl A. , Schiffmann R. , Gordish-Dressman H. , Albin R. , Amartino H. , Brockman K. , Dinopoulos A. , Dotti M.T. , Fain D. , Fernandez R. , Ferreira J. , more...
Neurology77:1287-1294(2011) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD GLN-66; LYS-72; GLU-86; THR-236; GLN-371; VAL-371 AND GLY-376
42.

"Follow-up study of 22 Chinese children with Alexander disease and analysis of parental origin of de novo GFAP mutations."
Zang L. , Wang J. , Jiang Y. , Gu Q. , Gao Z. , Yang Y. , Xiao J. , Wu Y.
J. Hum. Genet.58:183-188(2013) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANTS ALEXD PHE-76; LYS-77; LEU-79; HIS-79; CYS-79; CYS-88; SER-88; CYS-239; HIS-239; ASP-373; GLN-374 AND PHE-385
43.

"Familial adult-onset Alexander disease with a novel mutation (D78N) in the glial fibrillary acidic protein gene with unusual bilateral basal ganglia involvement."
Wada Y. , Yanagihara C. , Nishimura Y. , Namekawa M.
J. Neurol. Sci.331:161-164(2013) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD ASN-78
44.

"Diagnosis by whole exome sequencing of atypical infantile onset Alexander disease masquerading as a mitochondrial disorder."
Nishri D. , Edvardson S. , Lev D. , Leshinsky-Silver E. , Ben-Sira L. , Henneke M. , Lerman-Sagie T. , Blumkin L.
Eur. J. Paediatr. Neurol.18:495-501(2014) [PubMed] [Europe PMC] [Abstract]

[15/1/25 17:38] Upload to ab completed in less than a minute: 1 file transferred (13.4 Kb/s) Cited for: VARIANT ALEXD TRP-416

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