-
1
-
-
0141872257
-
Schilder's encephalitis perioxalis diffusa
-
Canavan MM: Schilder's encephalitis perioxalis diffusa. Neurology 1931;15:299-308.
-
(1931)
Neurology
, vol.15
, pp. 299-308
-
-
Canavan, M.M.1
-
2
-
-
0009599035
-
Sur une idiotie familiale avec degerescence sponglieuse de neuraxe (note preliminaire)
-
van Bogaert L, Bertrand I: Sur une idiotie familiale avec degerescence sponglieuse de neuraxe (note preliminaire). Acta Neurol 1949;49:572-587.
-
(1949)
Acta Neurol.
, vol.49
, pp. 572-587
-
-
van Bogaert, L.1
Bertrand, I.2
-
3
-
-
0023818297
-
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease
-
Matalon R, Michals K, Sebasta D, et al: Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 1988;29:463-471.
-
(1988)
Am. J. Med. Genet.
, vol.29
, pp. 463-471
-
-
Matalon, R.1
Michals, K.2
Sebasta, D.3
-
4
-
-
0034182887
-
Knock out mouse for Canavan disease: A model for gene transfer to the central nervous system
-
Matalon R, Rady PL, Platt KA, et al: Knock out mouse for Canavan disease: A model for gene transfer to the central nervous system. J Gene Med 2000;2:165-175.
-
(2000)
J. Gene Med.
, vol.2
, pp. 165-175
-
-
Matalon, R.1
Rady, P.L.2
Platt, K.A.3
-
5
-
-
0141976062
-
Spongy degeneration of the nervous system: A report of 4 cases with a review of the literature
-
Buchanan DS, Davi RL: Spongy degeneration of the nervous system: A report of 4 cases with a review of the literature. Neurology 1965;15:207-222.
-
(1965)
Neurology
, vol.15
, pp. 207-222
-
-
Buchanan, D.S.1
Davi, R.L.2
-
6
-
-
0028178607
-
Canavan disease: Genomic organization and localization of human ASPA to 17p13-ter: Conservation of the ASPA gene during evolution
-
Kaul R, Balamurugan K, Gao GP, Matalon R: Canavan disease: Genomic organization and localization of human ASPA to 17p13-ter: Conservation of the ASPA gene during evolution. Genomics 1994;21:364-370.
-
(1994)
Genomics
, vol.21
, pp. 364-370
-
-
Kaul, R.1
Balamurugan, K.2
Gao, G.P.3
Matalon, R.4
-
7
-
-
0028085633
-
Canavan disease: Mutations among Jewish and non-Jewish patients
-
Kaul R, Gao GP, Aloya M, et al: Canavan disease: Mutations among Jewish and non-Jewish patients. Am J Hum Genet 1994;55:34-41.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 34-41
-
-
Kaul, R.1
Gao, G.P.2
Aloya, M.3
-
8
-
-
0141620478
-
Spectrum of Canavan mutations among Jewish and non Jewish patients
-
Kaul RK, Matalon R, Gao GP, et al: Spectrum of Canavan mutations among Jewish and non Jewish patients. Am J Hum Genet 1994;55(Suppl):212.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 212
-
-
Kaul, R.K.1
Matalon, R.2
Gao, G.P.3
-
9
-
-
0028881717
-
Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish individuals
-
Kronn D, Oddoux C, Phillips J, et al: Prevalence of Canavan disease heterozygotes in the New York metropolitan Ashkenazi Jewish individuals. Am J Hum Genet 1995;57:1250-1252.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 1250-1252
-
-
Kronn, D.1
Oddoux, C.2
Phillips, J.3
-
10
-
-
0028106037
-
The frequency of C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel
-
Elpeleg ON, Anikster Y, Barash V, et al: The frequency of C854 mutation in the aspartoacylase gene in Ashkenazi Jews in Israel. Am J Hum Genet 1994;55:287-288.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. 287-288
-
-
Elpeleg, O.N.1
Anikster, Y.2
Barash, V.3
-
11
-
-
84867105643
-
Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings
-
Matalon R, Michals-Matalon K: Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings. Pediatr Pathol Mol Med 2000;18:471-481.
-
(2000)
Pediatr. Pathol. Mol. Med.
, vol.18
, pp. 471-481
-
-
Matalon, R.1
Michals-Matalon, K.2
-
13
-
-
0034145774
-
Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings
-
Matalon RM, Michals-Matalon K: Spongy degeneration of the brain, Canavan disease: Biochemical and molecular findings. Front Biosci 2000;5:D307-D311.
-
(2000)
Front. Biosci.
, vol.5
, pp. D307-D311
-
-
Matalon, R.M.1
Michals-Matalon, K.2
-
14
-
-
0019474163
-
Computerized tomography in the diagnosis of Canavan disease
-
Rushton AR, Shaywitz BA, Dumen CC, et al: Computerized tomography in the diagnosis of Canavan disease. Ann Neurol 1981; 10:57-60.
-
(1981)
Ann. Neurol.
, vol.10
, pp. 57-60
-
-
Rushton, A.R.1
Shaywitz, B.A.2
Dumen, C.C.3
-
16
-
-
0025552740
-
Spongy degeneration of the brain, Canavan disease
-
Matalon R, Michals K, Kaul R, Mafee M: Spongy degeneration of the brain, Canavan disease. Int Pediatr 1990;5:121-124.
-
(1990)
Int. Pediatr.
, vol.5
, pp. 121-124
-
-
Matalon, R.1
Michals, K.2
Kaul, R.3
Mafee, M.4
-
17
-
-
0025166746
-
In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan disease) by proton spectroscopy
-
Grodd W, Kragaloh-Mann I, Peterson D, et al: In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan disease) by proton spectroscopy. Lancet 1990;336:437-438.
-
(1990)
Lancet
, vol.336
, pp. 437-438
-
-
Grodd, W.1
Kragaloh-Mann, I.2
Peterson, D.3
-
18
-
-
0030280604
-
Quantitative measurements with localized 1H NMR spectroscopy in children with Canavan disease
-
Wittsack HJ, Kugel H, Roth B, Heindel W. Quantitative measurements with localized 1H NMR spectroscopy in children with Canavan disease. J Magn Reson Imaging 1996;6:889-893.
-
(1996)
J. Magn. Reson. Imaging
, vol.6
, pp. 889-893
-
-
Wittsack, H.J.1
Kugel, H.2
Roth, B.3
Heindel, W.4
-
19
-
-
0023100113
-
Neurochemical and immunochemical studies on the distribution of N-acetylaspartylglutamate and N-acetylaspartate in the rat spinal cord and some peripheral nervous tissues
-
Ory-Lavolle L, Blakely RD, Coyle JT: Neurochemical and immunochemical studies on the distribution of N-acetylaspartylglutamate and N-acetylaspartate in the rat spinal cord and some peripheral nervous tissues. J Neurochem 1987;48:895-899.
-
(1987)
J. Neurochem.
, vol.48
, pp. 895-899
-
-
Ory-Lavolle, L.1
Blakely, R.D.2
Coyle, J.T.3
-
20
-
-
0032814458
-
Astroglia contains a specific transport mechanism for N-acetyl-L-aspartate
-
Sager TN, Thomsen C, Valsborg JS, et al: Astroglia contains a specific transport mechanism for N-acetyl-L-aspartate. J Neurochem 1999;73:807-811.
-
(1999)
J. Neurochem.
, vol.73
, pp. 807-811
-
-
Sager, T.N.1
Thomsen, C.2
Valsborg, J.S.3
-
21
-
-
0015292217
-
Cerebral spongy degeneration of infancy: A biochemical and ultrastructural study of affected twins
-
Adornato BT, O'Brien JS, Lampert PW. Cerebral spongy degeneration of infancy: A biochemical and ultrastructural study of affected twins. Neurology 1972;22:202-210.
-
(1972)
Neurology
, vol.22
, pp. 202-210
-
-
Adornato, B.T.1
O'Brien, J.S.2
Lampert, P.W.3
-
22
-
-
0032899289
-
Molecular water pumps and the aetiology of Canavan disease: A case of the sorcerer's apprentice
-
Baslow MH: Molecular water pumps and the aetiology of Canavan disease: A case of the sorcerer's apprentice. J Inherit Metab Dis 1999;22:99-101.
-
(1999)
J. Inherit. Metab. Dis.
, vol.22
, pp. 99-101
-
-
Baslow, M.H.1
-
23
-
-
0015257189
-
Electron microscopic and enzyme histochemical studies of the cerebellum in spongy degeneration (van Bogaert and Bertrand type)
-
Adachi M, Torii J, Schneck L, Volk BW. Electron microscopic and enzyme histochemical studies of the cerebellum in spongy degeneration (van Bogaert and Bertrand type). Acta Neuropathol (Berl) 1972;20:22-31.
-
(1972)
Acta Neuropathol. (Berl)
, vol.20
, pp. 22-31
-
-
Adachi, M.1
Torii, J.2
Schneck, L.3
Volk, B.W.4
-
24
-
-
0021355551
-
Spongy degeneration of the CNS in infancy
-
Luo Y, Huang K: Spongy degeneration of the CNS in infancy. Arch Neurol 1984;41:164-170.
-
(1984)
Arch. Neurol.
, vol.41
, pp. 164-170
-
-
Luo, Y.1
Huang, K.2
-
26
-
-
0027362434
-
Human aspartoacylase cDNA and mis-sense mutation in Canavan disease
-
Kaul RK, Gao GP, Balamurugan K, Matalon R: Human aspartoacylase cDNA and mis-sense mutation in Canavan disease. Nat Genet 1993;5:118-123.
-
(1993)
Nat. Genet.
, vol.5
, pp. 118-123
-
-
Kaul, R.K.1
Gao, G.P.2
Balamurugan, K.3
Matalon, R.4
-
27
-
-
0141732469
-
Carrier rate of Canavan disease among Ashkenazi Jewish individuals
-
Matalon R, Kaul R, Michals K: Carrier rate of Canavan disease among Ashkenazi Jewish individuals. Am J Hum Genet 1994; 55:A157.
-
(1994)
Am. J. Hum. Genet.
, vol.55
, pp. A157
-
-
Matalon, R.1
Kaul, R.2
Michals, K.3
-
28
-
-
0028981855
-
The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients
-
Shaag A, Anikster Y, Christensen E, et al: The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients. Am J Hum Genet 1995;57:572-580.
-
(1995)
Am. J. Hum. Genet.
, vol.57
, pp. 572-580
-
-
Shaag, A.1
Anikster, Y.2
Christensen, E.3
-
29
-
-
0032238954
-
A missense mutation I143T in a Japanese patient with Canavan disease
-
Kobayashi K, Tsujino S, Ezoe T, et al: A missense mutation I143T in a Japanese patient with Canavan disease. Hum Mutat Suppl 1998;1:S308-S309.
-
(1998)
Hum. Mutat. Suppl.
, vol.1
, pp. S308-S309
-
-
Kobayashi, K.1
Tsujino, S.2
Ezoe, T.3
-
30
-
-
0036730050
-
Two novel aspartoacylase (ASPA) gene missense mutations specific to Norwegian and Swedish patients with Canavan disease
-
Olsen TR, Tranebjaerg L, Kvittingen EA, et al: Two novel aspartoacylase (ASPA) gene missense mutations specific to Norwegian and Swedish patients with Canavan disease. J Med Genet 2002;39:e55.
-
(2002)
J. Med. Genet.
, vol.39
, pp. e55
-
-
Olsen, T.R.1
Tranebjaerg, L.2
Kvittingen, E.A.3
-
31
-
-
0032434011
-
A benign polymorphism in the aspartoacylase gene may cause misrepresentation of Canavan gene testing
-
Propheta O, Magal N, Shohat M, et al: A benign polymorphism in the aspartoacylase gene may cause misrepresentation of Canavan gene testing. Eur J Hum Genet 1998;6:635-637.
-
(1998)
Eur. J. Hum. Genet.
, vol.6
, pp. 635-637
-
-
Propheta, O.1
Magal, N.2
Shohat, M.3
-
32
-
-
0031976004
-
Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in an Ashkenazi Jewish population
-
Alford RL, DeMarchi JM, Richards CS: Frequency of a DNA polymorphism at position Y231 in the aspartoacylase gene and its impact on DNA-based carrier testing for Canavan disease in an Ashkenazi Jewish population. Hum Mutat Suppl 1998;1:S161-S162.
-
(1998)
Hum. Mutat. Suppl.
, vol.1
, pp. S161-S162
-
-
Alford, R.L.1
DeMarchi, J.M.2
Richards, C.S.3
-
33
-
-
0028556543
-
Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis
-
Elpeleg ON, Shaag A, Anikster Y, Jakobs C: Prenatal detection of Canavan disease (aspartoacylase deficiency) by DNA analysis. J Inherit Metab Dis 1994;17:664-666.
-
(1994)
J. Inherit. Metab. Dis.
, vol.17
, pp. 664-666
-
-
Elpeleg, O.N.1
Shaag, A.2
Anikster, Y.3
Jakobs, C.4
-
34
-
-
0028998528
-
Prenatal diagnosis for Canavan disease: The use of DNA markers
-
Matalon R, Kaul R, Gao GP: Prenatal diagnosis for Canavan disease: The use of DNA markers. J Inherit Metab Dis 1995; 18:215-217.
-
(1995)
J. Inherit. Metab. Dis.
, vol.18
, pp. 215-217
-
-
Matalon, R.1
Kaul, R.2
Gao, G.P.3
-
35
-
-
0027494813
-
Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis
-
Bennett MJ, Gibson KM, Sherwood WG, et al: Reliable prenatal diagnosis of Canavan disease (aspartoacylase deficiency): Comparison of enzymatic and metabolite analysis. J Inherit Metab Dis 1993;16:831-836.
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 831-836
-
-
Bennett, M.J.1
Gibson, K.M.2
Sherwood, W.G.3
-
36
-
-
0027487217
-
Prenatal diagnosis of N-acetyl-L-aspartate in amniotic fluid
-
Kelley RI: Prenatal diagnosis of N-acetyl-L-aspartate in amniotic fluid. J Inherit Metab Dis 1993;16:918-919.
-
(1993)
J. Inherit. Metab. Dis.
, vol.16
, pp. 918-919
-
-
Kelley, R.I.1
-
37
-
-
0141872254
-
Elevated brain water in Canavan disease: Impact of a diuretic therapy
-
Bluml S, Seymour K, Philippart M, et al: Elevated brain water in Canavan disease: Impact of a diuretic therapy. Int Soc Magn Res 1998;171.
-
(1998)
Int. Soc. Magn. Res.
, vol.171
-
-
Bluml, S.1
Seymour, K.2
Philippart, M.3
-
38
-
-
0028875936
-
Transfer of genes to humans: Early lessons and obstacles to success
-
Crystal RG: Transfer of genes to humans: Early lessons and obstacles to success. Science 1995;270:404-410.
-
(1995)
Science
, vol.270
, pp. 404-410
-
-
Crystal, R.G.1
-
40
-
-
0033917280
-
Aspartoacylase gene transfer to the central nervous system with therapeutical implications for Canavan disease
-
Leone P, Janson CG, Bilanuk L: Aspartoacylase gene transfer to the central nervous system with therapeutical implications for Canavan disease. Ann Neurol 2000;48:27-38.
-
(2000)
Ann. Neurol.
, vol.48
, pp. 27-38
-
-
Leone, P.1
Janson, C.G.2
Bilanuk, L.3
-
41
-
-
0141872255
-
Delivery of rAAV-aspartoacylase in a knock out mouse for Canavan disease, abstract
-
Matalon R, Rady P, Surendran S, et al: Delivery of rAAV-aspartoacylase in a knock out mouse for Canavan disease, abstract. J Inherit Metab Dis 2001;24(Suppl 1): 123.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, pp. 123
-
-
Matalon, R.1
Rady, P.2
Surendran, S.3
-
42
-
-
0028526161
-
Herpes simplex virus vectors for gene therapy
-
Latchman DS: Herpes simplex virus vectors for gene therapy. Mol Biotechnol 1994;2:179-195.
-
(1994)
Mol. Biotechnol.
, vol.2
, pp. 179-195
-
-
Latchman, D.S.1
-
43
-
-
0031779697
-
Adenoassociated virus mediated transgene integration into neurons and other nondividing cell targets
-
Wu P, Phillips M, Bui J, et al: Adenoassociated virus mediated transgene integration into neurons and other nondividing cell targets. J Virol 1998;72:5919-5926.
-
(1998)
J. Virol.
, vol.72
, pp. 5919-5926
-
-
Wu, P.1
Phillips, M.2
Bui, J.3
-
44
-
-
0031104792
-
Gene transfer by adenoassociated virus vectors into the central nervous system
-
Xiao X, Li J, McCown TJ, et al: Gene transfer by adenoassociated virus vectors into the central nervous system. Exp Neurol 1997; 144:113-124.
-
(1997)
Exp. Neurol.
, vol.144
, pp. 113-124
-
-
Xiao, X.1
Li, J.2
McCown, T.J.3
|