SCOPUS 정보 검색 플랫폼

Volumn 37, Issue 5, 2013, Pages 698-700

Alexander disease: A Novel mutation in the glial fibrillary acidic protein gene with initial uncommon clinical and magnetic resonance imaging findings

(3) Da Silva Pereira, Conceição Campanário a Gattás, Gabriel Scarabôtolo a Lucato, Leandro Tavares b

a Hospital Infantil Sabará (Brazil)

b UNIVERSITY OF SÃO PAULO (Brazil)

Author keywords

Alexander disease; brain; glial fibrillary acidic protein (GFAP) gene; leukodystrophy; magnetic resonance imaging; MRI; novel mutation

Indexed keywords

GENES; MAGNETISM; NEURODEGENERATIVE DISEASES; PROTEINS; RESONANCE;

ALEXANDER DISEASE; ATYPICALS; FOLLOW UP; GLIAL FIBRILLARY ACIDIC PROTEIN GENE; GLIAL FIBRILLARY ACIDIC PROTEINS; LEUCODYSTROPHY; NEURODEGENERATIVE DISORDERS; NOVEL MUTATIONS; PROTEIN GENES; WHITE MATTER;

MAGNETIC RESONANCE IMAGING;

AMINO ACID; AMMONIA; CARBOXYLIC ACID; CARNITINE; CEREBROSIDE SULFATASE; CLOBAZAM; GALACTOSYLCERAMIDASE; GLIAL FIBRILLARY ACIDIC PROTEIN; LACTIC ACID; LAMOTRIGINE; MIDAZOLAM; NITRAZEPAM; PHENOBARBITAL; PHENYTOIN; THIOPENTAL; TOPIRAMATE; VALPROIC ACID; VERY LONG CHAIN FATTY ACID;

ALEXANDER DISEASE; ARTICLE; BRAIN EDEMA; BRAIN VENTRICLE PERITONEUM SHUNT; CAPSULA INTERNA; CASE REPORT; CONTRAST ENHANCEMENT; DRUG MEGADOSE; ECHOENCEPHALOGRAPHY; EPILEPTIC STATE; FAILURE TO THRIVE; FEMALE; FOLLOW UP; GENE MUTATION; GENETIC ANALYSIS; HUMAN; INFANT; MACROCEPHALY; NEUROIMAGING; NEUROLOGIC EXAMINATION; NUCLEAR MAGNETIC RESONANCE IMAGING; OBSTRUCTIVE HYDROCEPHALUS; ONSET AGE; PRIORITY JOURNAL; SEIZURE; WHITE MATTER;

EID: 84885003737 PISSN: 03638715 EISSN: 15323145 Source Type: Journal
DOI: 10.1097/RCT.0b013e31829f5a04 Document Type: Article

Times cited : (8)

References (10)

1
- 0003567951
- Alexander disease
- van der Knaap MS, Valk J, eds 3rd ed. New York, NY: Springer
- van der Knaap MS, Valk J. Alexander disease. In: van der Knaap MS, Valk J, eds. Magnetic Resonance of Myelination and Myelin Disorders. 3rd ed. New York, NY: Springer; 2005:416-435.
- (2005) Magnetic Resonance of Myelination and Myelin Disorders , pp. 416-435
- Van Der Knaap, M.S.¹ Valk, J.²

2
- 84859538305
- Alexander disease
- Messing A, Brenner M, Feany MB, et al. Alexander disease. J Neurosci. 2012;32:5017-5023.
- (2012) J Neurosci , vol.32 , pp. 5017-5023
- Messing, A.¹ Brenner, M.² Feany, M.B.³

3
- 84863393001
- Archetypal and new families with Alexander disease and novel mutations in GFAP
- Messing A, Li R, Naidu S, et al. Archetypal and new families with Alexander disease and novel mutations in GFAP. Arch Neurol. 2012;69:208-214.
- (2012) Arch Neurol , vol.69 , pp. 208-214
- Messing, A.¹ Li, R.² Naidu, S.³

4
- 67649422272
- Review of Alexander disease: Beyond the classical concept of leukodystrophy
- Sawaishi Y. Review of Alexander disease: beyond the classical concept of leukodystrophy. Brain Dev. 2009;31:493-498.
- (2009) Brain Dev , vol.31 , pp. 493-498
- Sawaishi, Y.¹

5
- 77957028555
- Strategies for treatment in Alexander disease
- Messing A, LaPash Daniels CM, Hagemann TL. Strategies for treatment in Alexander disease. Neurotherapeutics. 2010; 7:507-515.
- (2010) Neurotherapeutics , vol.7 , pp. 507-515
- Messing, A.¹ Lapash Daniels, C.M.² Hagemann, T.L.³

6
- 0035100718
- Alexander disease: Diagnosis with MR imaging
- van der Knaap MS, Naidu S, Breiter SN, et al. Alexander disease: diagnosis with MR imaging. AJNR Am J Neuroradiol. 2001;22:541-552. (Pubitemid 32221425)
- (2001) American Journal of Neuroradiology , vol.22 , Issue.3 , pp. 541-552
- Van Der Knaap, M.S.¹ Naidu, S.² Breiter, S.N.³ Blaser, S.⁴ Stroink, H.⁵ Springer, S.⁶ Begeer, J.C.⁷ Van Coster, R.⁸ Barth, P.G.⁹ Thomas, N.H.¹⁰ Valk, J.¹¹ Powers, J.M.¹²

7
- 82255182406
- GFAP mutations, age at onset, and clinical subtypes in Alexander disease
- Prust M, Wang J, Morizono H, et al. GFAP mutations, age at onset, and clinical subtypes in Alexander disease. Neurology. 2011;77:1287-1294.
- (2011) Neurology , vol.77 , pp. 1287-1294
- Prust, M.¹ Wang, J.² Morizono, H.³

8
- 0033556424
- Transient hydrocephalus as a presenting sign associated with adrenoleukodystrophy
- Wong M, Shaibani A, Lee BC. Transient hydrocephalus as a presenting sign associated with adrenoleukodystrophy. Neurology. 1999;52:424-425. (Pubitemid 29059084)
- (1999) Neurology , vol.52 , Issue.2 , pp. 424-425
- Wong, M.¹ Shaibani, A.² Lee, B.C.P.³

9
- 52049087830
- Acquired obstructive hydrocephalus in globoid-cell leukodystrophy
- Breningstall GN, Patterson RJ. Acquired obstructive hydrocephalus in globoid-cell leukodystrophy. Pediatr Neurol. 2008;39:279-280.
- (2008) Pediatr Neurol , vol.39 , pp. 279-280
- Breningstall, G.N.¹ Patterson, R.J.²

10
- 56849118495
- Neonatal Alexander disease: MR imaging prenatal diagnosis
- Vazquez E, Macaya A, Mayolas N, et al. Neonatal Alexander disease: MR imaging prenatal diagnosis. AJNR Am J Neuroradiol. 2008;29:1973-1975.
- (2008) AJNR Am J Neuroradiol , vol.29 , pp. 1973-1975
- Vazquez, E.¹ MacAya, A.² Mayolas, N.³

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.