|
| 2008 | 2007 | 2006 |
2005 | 2004 | 2003 |
2002 | 2001 | 2000
| 1999 |
Tang G, Yue Z, Talloczy Z, Hagemann T, Cho W, Messing A, Sulzer DL, Goldman JE. Autophagy induced by Alexander disease-mutant GFAP accumulation is regulated by p38/MAPK and mTOR signaling pathways. Human Molecular Genetics (in press)
Matej R, Dvorakova L, Mrazova L, Houst'Kova H, Elleder M. 2008. Early onset Alexander disease: a case report with evidence for manifestation of the disorder in neurohypophyseal pituicytes. Clinical Neuropathology 27:64-71.
Murakami N, Tsuchiya T, Kanazawa N, Tsujino S, Nagai T. 2008. Novel deletion mutation in GFAP gene in an infantile form of Alexander disease. Pediatric Neurology. 38:50-2
Howard KL,
Hall DA, Moon M, Agarwal P, Newman E, Brenner M. 2008. Adult-onset
Alexander disease with progressive ataxia and palatal tremor. Movement
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Bachetti T, Caroli F, Bocca P, Prigione I, Balbi P, Biancheri R, Filocamo M, Mariotti C, Pareyson D, Ravazzolo R, Ceccherini I. 2008. Mild functional effects of a novel GFAP mutant allele identified in a familial case of adult-onset Alexander disease. European Journal of Human Genetics 16:462-470. [clinical features reported by Balbi et al.]
Hirayama T, Fukae J, Noda K, Fujishima K, Yamamoto T, Mori K, Maeda, M, Hattori N, Shiroma N, Tsurui S, Okuma Y. 2008. Adult-onset Alexander disease with palatal myoclonus and intraventricular tumour. European Journal of Neurology 15:E16-E17. Wu Y, Gu Q, Wang J, Yang Y, Wu X, Jiang Y. 2008. Clinical and Genetic Study in Chinese Patients With Alexander Disease. Journal of Child Neurology 23:173-7.
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Acute onset of fatal vegetative symptoms: Unusual presentation of adult
Alexander disease. European Journal of Neurology 14:1251-1255.
Hartmann H, Herchenbach J, Stephani U, Ledaal P, Donnerstag F, Lucke T, Das AM, Christen HJ, Hagedorn M, Meins M. 2007. Novel mutations in exon 6 of the GFAP gene affect a highly conserved IF motif in the rod domain 2B and are associated with early onset infantile Alexander disease. Neuropediatrics 38:143-147. 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. 2007. GFAP mutations and polymorphisms in 13 unrelated Italian patients affected by Alexander disease. Clinical Genetics 72:427-433. Ohnari K, Yamano M, Uozumi T, Hashimoto T, Tsuji S, Nakagawa M. 2007. An adult form of Alexander disease: a novel mutation in glial fibrillary acidic protein. Journal of Neurology 254:1390-1394. Hinttala R, Karttunen V, Karttunen A, Herva R, Uusimaa J, Remes AM. 2007. Alexander disease with occipital predominance and a novel c.799G>C mutation in the GFAP gene. Acta Neuropathologica 114:543-545. Mignot C, Delarasse C, Escaich S, della Gaspera B, Noe E, Colucci-Guyon E, Babinet C, Pekny M, Vicart P, Boespflug-Tanguy O, Dautigny A, Rodriquez D, Pham-Dinh D. 2007. Dynamics of mutated GFAP aggregates revealed by real-time imaging of an astrocyte model of Alexander disease. Experimental Cell Research 313:2766-2779. Romano S, Salvetti M, Ceccherini I, De Simone T, Savoiardo M. Brainstem signs with progressing atrophy of medulla oblongata and upper cervical spinal cord. Lancet Neurology 6:562-570, 2007. Salmaggi A, Botturi A, Lamperti E, Grisoli M, Fischetto R, Ceccherini I, Caroli F, Boiardi A. 2007. A novel mutation in the GFAP gene in a familial adult onset Alexander disease. Journal of Neurology 254:1278-1280. Quinlan RA, Brenner M, Goldman J, Messing A. 2007. GFAP and its role in Alexander disease [review] Exp. Cell Res. 313:2077-2087, 2007. Tanaka KF, Takebayashi H, Yamazaki Y, Ono K, Naruse M, Iwasato T, Itohara S, Kato H, Ikenaka K. 2007. The murine model of Alexander disease: analysis of GFAP aggregate formation and its pathological significance. Glia 55:617-31 Yoshida T, Tomozawa Y, Arisato T, Okamoto Y, Hirano H, Nakagawa M. 2007.
The functional alteration of mutant GFAP depends on the location of the
domain: morphological and functional studies using astrocytoma-derived
cells. J Hum Genet 52:362-9
Hagemann TL, Connor JX, & Messing A.
Alexander disease-associated glial fibrillary acidic protein mutations in
mice induce Rosenthal fiber formation and a white matter stress response.
J.Neurosci. 26:11162-11173, 2006. Tang G, Xu Z, & Goldman JE.
Synergistic effects of the SAPK/JNK and the proteasome pathway
on glial fibrillary acidic protein (GFAP) accumulation in Alexander
disease. J.Biol.Chem. 281 (50):38634-38643, 2006. Ishigaki K, Ito Y, Sawaishi Y, Funatsuka M, Hattori N, Nakano K, Saito K, & Osawa M. TRH therapy in a patient with juvenile Alexander disease. Brain Dev. 28:663-667, 2006. [age of onset for this patient would be considered "infantile" according to our system] Lee JM, Kim AS, Lee SJ,
Cho SM, Lee DS, Choi SM, Kim DK,
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A case of infantile Alexander disease accompanied by infantile spasms
diagnosed by DNA analysis. Journal of Korean Medical Science
21:954-957, 2006. Perng MD, Su M, Wen SF, Li R, Gibbon T, Prescott AR, Brenner M, & Quinlan RA. The Alexander disease-causing GFAP mutant, R416W, accumulates into Rosenthal fibers by a pathway involving filament aggregation and the association of alphaB-crystallin and HSP27. American Journal of Human Genetics 79:197-213, 2006. van der
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Propensity for paternal inheritance of de novo mutations in Alexander
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Akagi M, Inui K, Mushiake
S, Taniike M, Ozono
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Novel mutation of gene coding for glial fibrillary acidic protein in a
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Alexander-disease mutation of GFAP causes filament disorganization and
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Rosenthal, W. (1898).
Über eine
eigenthümliche, mit
syringomyelie complicirte
geschwulst des
rückenmarks.
Bietr.Pathol.Anat., 23,
111-143. |
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