-
1
-
-
0015815575
-
Spongy degeneration of the central nervous system (Van Bogaert and Bertrand type; Canavan's disease)
-
10.1016/S0046-8177(73)80098-X 1:STN:280:DyaE2c7isFShsw%3D%3D
-
Adachi M, Schneck L, Cara J, Volk BW (1973) Spongy degeneration of the central nervous system (Van Bogaert and Bertrand type; Canavan's disease). Human Pathol 4:331-347
-
(1973)
Human Pathol
, vol.4
, pp. 331-347
-
-
Adachi, M.1
Schneck, L.2
Cara, J.3
Volk, B.W.4
-
2
-
-
0015292217
-
Cerebral spongy degeneration of infancy: A biochemical and ultrastructural study of affected twins
-
4333033 10.1212/WNL.22.2.202 1:STN:280:DyaE38%2FpsVajsw%3D%3D
-
Adornato BT, O'Brien JS, Lampert PW, Roe TF, Neustein HB (1972) Cerebral spongy degeneration of infancy: a biochemical and ultrastructural study of affected twins. Neurology 22:202-210
-
(1972)
Neurology
, vol.22
, pp. 202-210
-
-
Adornato, B.T.1
O'Brien, J.S.2
Lampert, P.W.3
Roe, T.F.4
Neustein, H.B.5
-
3
-
-
68849132104
-
Molecular mechanism for the denaturation of proteins by urea
-
19580327 10.1021/bi9007116 1:CAS:528:DC%2BD1MXovFKlsrk%3D
-
Almarza J, Rincon L, Bahsas A, Brito F (2009) Molecular mechanism for the denaturation of proteins by urea. Biochemistry 48:7608-7613
-
(2009)
Biochemistry
, vol.48
, pp. 7608-7613
-
-
Almarza, J.1
Rincon, L.2
Bahsas, A.3
Brito, F.4
-
4
-
-
0141872257
-
Schindler's Encephalitis Periaxialis Diffusa
-
10.1001/archneurpsyc.1931.02230020085005
-
Canavan MM (1931) Schindler's Encephalitis Periaxialis Diffusa. Arch Neurol Psychiat 25:299-308
-
(1931)
Arch Neurol Psychiat
, vol.25
, pp. 299-308
-
-
Canavan, M.M.1
-
5
-
-
0032968640
-
The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients
-
10.1023/A:1005512524957 1:CAS:528:DyaK1MXkslOmtLo%3D
-
Elpeleg ON, Shaag A (1999) The spectrum of mutations of the aspartoacylase gene in Canavan disease in non-Jewish patients. J Inher Metabol Dis 22:531-544
-
(1999)
J Inher Metabol Dis
, vol.22
, pp. 531-544
-
-
Elpeleg, O.N.1
Shaag, A.2
-
6
-
-
84944478563
-
Progressive degenerative subcortical encephalophaty (Schilder's disease)
-
10.1001/archneurpsyc.1928.02210180041003
-
Globus JH, Strauss I (1928) Progressive degenerative subcortical encephalophaty (Schilder's disease). Arch Neurol Psychiat 20:1190-1228
-
(1928)
Arch Neurol Psychiat
, vol.20
, pp. 1190-1228
-
-
Globus, J.H.1
Strauss, I.2
-
7
-
-
34247157359
-
Mutational analysis of aspartoacylase: Implications for canavan disease
-
17391648 10.1016/j.brainres.2007.02.069 1:CAS:528:DC%2BD2sXksVOqsrY%3D
-
Hershfield JR, Pattabiraman N, Madhavarao CN, Namboodiri MA (2007) Mutational analysis of aspartoacylase: implications for canavan disease. Brain Res 1148:1-14
-
(2007)
Brain Res
, vol.1148
, pp. 1-14
-
-
Hershfield, J.R.1
Pattabiraman, N.2
Madhavarao, C.N.3
Namboodiri, M.A.4
-
8
-
-
32044463622
-
Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene
-
16437572 10.1002/ana.20787 1:CAS:528:DC%2BD28XhvVSksbY%3D
-
Janson CG, Kolodny EH, Zeng BJ, Raghavan S, Pastores GM, Torres P et al. (2006) Mild-onset presentation of Canavan's disease associated with novel G212A point mutation in aspartoacylase gene. Ann Neurol 59:428-431
-
(2006)
Ann Neurol
, vol.59
, pp. 428-431
-
-
Janson, C.G.1
Kolodny, E.H.2
Zeng, B.J.3
Raghavan, S.4
Pastores, G.M.5
Torres, P.6
-
9
-
-
0021822519
-
Purification of aspartase and aspartokinase-homoserine dehydrogenase i from Escherichia coli by Dye-Ligand chromatography
-
3893216 10.1016/0003-2697(85)90280-5 1:CAS:528:DyaL2MXktFyrsLk%3D
-
Karsten WE, Hunsley JR, Viola RE (1985) Purification of aspartase and aspartokinase-homoserine dehydrogenase I from Escherichia coli by Dye-Ligand chromatography. Anal Biochem 147:336-341
-
(1985)
Anal Biochem
, vol.147
, pp. 336-341
-
-
Karsten, W.E.1
Hunsley, J.R.2
Viola, R.E.3
-
10
-
-
0028178607
-
Canavan disease: Genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution
-
8088831 10.1006/geno.1994.1278 1:CAS:528:DyaK2MXhs1Gjtw%3D%3D
-
Kaul R, Balamurugan K, Gao GP, Matalon R (1994a) Canavan disease: genomic organization and localization of human ASPA to 17p13-ter and conservation of the ASPA gene during evolution. Genomics 21:364-370
-
(1994)
Genomics
, vol.21
, pp. 364-370
-
-
Kaul, R.1
Balamurugan, K.2
Gao, G.P.3
Matalon, R.4
-
11
-
-
0028085633
-
Canavan disease: Mutations among Jewish and non-Jewish patients
-
8023850 1:CAS:528:DyaK2cXlsFCkurs%3D
-
Kaul R, Gao GP, Aloya M, Balamurugan K, Petrosky A, Michals-Matalon K et al. (1994b) Canavan disease: mutations among Jewish and non-Jewish patients. Am J Hum Genet 55:34-41
-
(1994)
Am J Hum Genet
, vol.55
, pp. 34-41
-
-
Kaul, R.1
Gao, G.P.2
Aloya, M.3
Balamurugan, K.4
Petrosky, A.5
Michals-Matalon, K.6
-
12
-
-
0028960923
-
Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease
-
7599639 10.1002/humu.1380050313 1:CAS:528:DyaK2MXlt1ertro%3D
-
Kaul R, Gao GP, Michals-Matalon K, Whelan DT, Levin S, Matalon R (1995) Novel (cys152 > arg) missense mutation in an Arab patient with Canavan disease. Hum Mutat 5:269-271
-
(1995)
Hum Mutat
, vol.5
, pp. 269-271
-
-
Kaul, R.1
Gao, G.P.2
Michals-Matalon, K.3
Whelan, D.T.4
Levin, S.5
Matalon, R.6
-
13
-
-
0032238954
-
Missense mutation (I143T) in a Japanese patient with Canavan disease
-
Kobayashi, K, Tsujino, S, Ezoe, T, Hamaguchi, H, Nihei, K, Sakuragawa, N (1998) Missense mutation (I143T) in a Japanese patient with Canavan disease. Human Mutation S308-S309
-
(1998)
Human Mutation
-
-
Kobayashi, K.1
Tsujino, S.2
Ezoe, T.3
Hamaguchi, H.4
Nihei, K.5
Sakuragawa, N.6
-
14
-
-
33646468070
-
Characterization of human aspartoacylase: The brain enzyme responsible for Canavan disease
-
16669630 10.1021/bi052608w
-
Le Coq J, An HJ, Lebrilla CB, Viola RE (2006) Characterization of human aspartoacylase: the brain enzyme responsible for Canavan disease. Biochemistry 45:5878-5884
-
(2006)
Biochemistry
, vol.45
, pp. 5878-5884
-
-
Le Coq, J.1
An, H.J.2
Lebrilla, C.B.3
Viola, R.E.4
-
15
-
-
40849124078
-
Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue
-
18293939 10.1021/bi702400x
-
Le Coq J, Pavlovsky A, Malik R, Sanishvili R, Xu C, Viola RE (2008) Examination of the mechanism of human brain aspartoacylase through the binding of an intermediate analogue. Biochemistry 47:3484-3492
-
(2008)
Biochemistry
, vol.47
, pp. 3484-3492
-
-
Le Coq, J.1
Pavlovsky, A.2
Malik, R.3
Sanishvili, R.4
Xu, C.5
Viola, R.E.6
-
16
-
-
62449341938
-
Urea, but not guanidinium, destabilizes proteins by forming hydrogen bonds to the peptide group
-
19196963 10.1073/pnas.0812588106 1:CAS:528:DC%2BD1MXislSnt78%3D
-
Lim WK, Rosgen J, Englander SW (2009) Urea, but not guanidinium, destabilizes proteins by forming hydrogen bonds to the peptide group. Proc Natl Acad Sci USA 106:2595-2600
-
(2009)
Proc Natl Acad Sci USA
, vol.106
, pp. 2595-2600
-
-
Lim, W.K.1
Rosgen, J.2
Englander, S.W.3
-
17
-
-
0027302007
-
Canavan disease: Biochemical and molecular studies
-
10.1007/BF00711906 1:STN:280:DyaK2c%2FhslGqtw%3D%3D
-
Matalon R, Kaul R, Michals K (1993) Canavan disease: biochemical and molecular studies. J Inher Metabol Dis 16:744-752
-
(1993)
J Inher Metabol Dis
, vol.16
, pp. 744-752
-
-
Matalon, R.1
Kaul, R.2
Michals, K.3
-
18
-
-
0023818297
-
Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease
-
3354621 10.1002/ajmg.1320290234 1:STN:280:DyaL1c7otFSktw%3D%3D
-
Matalon R, Michals-Matalon K, Sebesta M, Deanching M, Gashkoff P, Casanova J (1988) Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 29:463-471
-
(1988)
Am J Med Genet
, vol.29
, pp. 463-471
-
-
Matalon, R.1
Michals-Matalon, K.2
Sebesta, M.3
Deanching, M.4
Gashkoff, P.5
Casanova, J.6
-
19
-
-
0037405452
-
Purification and preliminary characterization of brain aspartoacylase
-
12706335 10.1016/S0003-9861(03)00055-9 1:CAS:528:DC%2BD3sXivV2nsrg%3D
-
Moore RA, Le Coq J, Faehnle CR, Viola RE (2003) Purification and preliminary characterization of brain aspartoacylase. Arch Biochem Biophys 413:1-8
-
(2003)
Arch Biochem Biophys
, vol.413
, pp. 1-8
-
-
Moore, R.A.1
Le Coq, J.2
Faehnle, C.R.3
Viola, R.E.4
-
20
-
-
0028981855
-
The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients
-
7668285 1:CAS:528:DyaK2MXotFemtrY%3D
-
Shaag A, Anikster Y, Christensen E, Glustein JZ, Fois A, Michelakakis H et al. (1995) The molecular basis of Canavan (aspartoacylase deficiency) disease in European non-Jewish patients. Am J Hum Genet 57:572-580
-
(1995)
Am J Hum Genet
, vol.57
, pp. 572-580
-
-
Shaag, A.1
Anikster, Y.2
Christensen, E.3
Glustein, J.Z.4
Fois, A.5
Michelakakis, H.6
-
21
-
-
0142065924
-
Mild elevation of N-Acetylaspartic acid and macrocephaly: Diagnostic problem
-
14696913 10.1177/08830738030180111601
-
Surendran S, Bamforth FJ, Chan A, Tyring SK, Goodman SI, Matalon R (2003) Mild elevation of N-Acetylaspartic acid and macrocephaly: diagnostic problem. J Child Neurol 18:809-812
-
(2003)
J Child Neurol
, vol.18
, pp. 809-812
-
-
Surendran, S.1
Bamforth, F.J.2
Chan, A.3
Tyring, S.K.4
Goodman, S.I.5
Matalon, R.6
-
22
-
-
24744439230
-
Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease
-
16138249 10.1055/s-2005-865865 1:STN:280:DC%2BD2MvmvFyjsg%3D%3D
-
Tacke U, Olbrich H, Sass JO, Fekete A, Horvath J, Ziyeh S et al. (2005) Possible genotype-phenotype correlations in children with mild clinical course of Canavan disease. Neuropediatrics 36:252-255
-
(2005)
Neuropediatrics
, vol.36
, pp. 252-255
-
-
Tacke, U.1
Olbrich, H.2
Sass, J.O.3
Fekete, A.4
Horvath, J.5
Ziyeh, S.6
-
23
-
-
0031893872
-
The clinical course of Canavan disease
-
9568915 10.1016/S0887-8994(97)00185-9 1:STN:280:DyaK1c3islyksg%3D%3D
-
Traeger EC, Rapin I (1998) The clinical course of Canavan disease. Pediatr Neurol 18:207-212
-
(1998)
Pediatr Neurol
, vol.18
, pp. 207-212
-
-
Traeger, E.C.1
Rapin, I.2
-
24
-
-
0009599035
-
Sur une idiotie familiale avec dégénérescence spongieuse du névraxe
-
van Bogaert L, Bertrand L (1949) Sur une idiotie familiale avec dégénérescence spongieuse du névraxe. Acta Neur Psychiatr Belg 49:572-585
-
(1949)
Acta Neur Psychiatr Belg
, vol.49
, pp. 572-585
-
-
Van Bogaert, L.1
Bertrand, L.2
-
25
-
-
27144488372
-
Atypical MRI findings in Canavan disease: A patient with a mild course
-
16217711 10.1055/s-2005-872878 1:STN:280:DC%2BD2MrktFCrsA%3D%3D
-
Yalcinkaya C, Benbir G, Salomons GS, Karaarslan E, Rolland MO, Jakobs C et al. (2005) Atypical MRI findings in Canavan disease: a patient with a mild course. Neuropediatrics 36:336-339
-
(2005)
Neuropediatrics
, vol.36
, pp. 336-339
-
-
Yalcinkaya, C.1
Benbir, G.2
Salomons, G.S.3
Karaarslan, E.4
Rolland, M.O.5
Jakobs, C.6
-
26
-
-
0036881453
-
Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease
-
10.1023/A:1022091223498 1:CAS:528:DC%2BD3sXlsleqsA%3D%3D
-
Zeng BJ, Wang ZH, Ribeiro LA, Leone P, De Gasperi R, Kim SJ et al. (2002) Identification and characterization of novel mutations of the aspartoacylase gene in non-Jewish patients with Canavan disease. J Inher Metabol Dis 25:557-570
-
(2002)
J Inher Metabol Dis
, vol.25
, pp. 557-570
-
-
Zeng, B.J.1
Wang, Z.H.2
Ribeiro, L.A.3
Leone, P.4
De Gasperi, R.5
Kim, S.J.6
-
27
-
-
77957929987
-
Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease
-
20129749 10.1016/j.braindev.2010.01.001
-
Zhang H, Liu X, Gu X (2010) Two novel missense mutations in the aspartoacylase gene in a Chinese patient with congenital Canavan disease. Brain Dev 32:879-882
-
(2010)
Brain Dev
, vol.32
, pp. 879-882
-
-
Zhang, H.1
Liu, X.2
Gu, X.3
|