-
1
-
-
47749106795
-
Juvenile familiar amaurotic idiocy and myoclonic forms of cerebral lipidoses (in Czech)
-
Bednar B, Dittrich J, Jirasek A, Smid F, Vacek R (1967) Juvenile familiar amaurotic idiocy and myoclonic forms of cerebral lipidoses (in Czech). Cs patol 3:141-149
-
(1967)
Cs Patol
, vol.3
, pp. 141-149
-
-
Bednar, B.1
Dittrich, J.2
Jirasek, A.3
Smid, F.4
Vacek, R.5
-
2
-
-
0023277545
-
Single-step method of RNA isolation by acid guanidinium thiocyanate- phenol-chloroform extraction
-
Chomczynski P, Sacchi N (1987) Single-step method of RNA isolation by acid guanidinium thiocyanate- phenol-chloroform extraction. Anal Biochem 162:156-159
-
(1987)
Anal Biochem
, vol.162
, pp. 156-159
-
-
Chomczynski, P.1
Sacchi, N.2
-
3
-
-
0017206890
-
Late infantile neuronal storage disease with curvilinear bodies
-
de Baecque CM, Pollack MA, Suzuki K (1976) Late infantile neuronal storage disease with curvilinear bodies. Arch Pathol Lab Med 100:139-144
-
(1976)
Arch Pathol Lab Med
, vol.100
, pp. 139-144
-
-
de Baecque, C.M.1
Pollack, M.A.2
Suzuki, K.3
-
4
-
-
0018134941
-
A histochemical and ultrastructural study of stored material in neuronal ceroid lipofuscinosis
-
Elleder M (1978) A histochemical and ultrastructural study of stored material in neuronal ceroid lipofuscinosis. Virchows Arch B Cell Pathol 28:167-178
-
(1978)
Virchows Arch B Cell Pathol
, vol.28
, pp. 167-178
-
-
Elleder, M.1
-
5
-
-
47749118333
-
NCL in Different European Countries
-
In: Goebel HH, Mole SE, Lake BD (eds) IOS Press, Amsterdam
-
Elleder M, Kraus J, Nevsimalova S, Sixtova K, Zeman J (1999) NCL in Different European Countries. In: Goebel HH, Mole SE, Lake BD (eds) The neuronal ceroid lipofuscinoses (batten disease). IOS Press, Amsterdam, pp 129
-
(1999)
The Neuronal Ceroid Lipofuscinoses (Batten Disease)
, pp. 129
-
-
Elleder, M.1
Kraus, J.2
Nevsimalova, S.3
Sixtova, K.4
Zeman, J.5
-
6
-
-
0001786873
-
Definitions of the Ultrastructural Patterns found in NCL
-
In: Goebel HH, Mole SE, Lake BD (eds) IOS Press, Amsterdam
-
Elleder M, Lake BD, Goebel HH, Rapola J, Haltia M, Carpenter S (1999) Definitions of the Ultrastructural Patterns found in NCL. In: Goebel HH, Mole SE, Lake BD (eds) The neuronal ceroid lipofuscinoses (batten disease). IOS Press, Amsterdam, pp 5-15
-
(1999)
The Neuronal Ceroid Lipofuscinoses (Batten Disease)
, pp. 5-15
-
-
Elleder, M.1
Lake, B.D.2
Goebel, H.H.3
Rapola, J.4
Haltia, M.5
Carpenter, S.6
-
7
-
-
0030951610
-
Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders
-
Elleder M, Sokolova J, Hrebicek M (1997) Follow-up study of subunit c of mitochondrial ATP synthase (SCMAS) in Batten disease and in unrelated lysosomal disorders. Acta Neuropathol 93:379-390
-
(1997)
Acta Neuropathol
, vol.93
, pp. 379-390
-
-
Elleder, M.1
Sokolova, J.2
Hrebicek, M.3
-
8
-
-
0031824911
-
Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (batten disease)
-
Elleder M, Tyynela J (1998) Incidence of neuronal perikaryal spheroids in neuronal ceroid lipofuscinoses (batten disease). Clin Neuropathol 17:184-189
-
(1998)
Clin Neuropathol
, vol.17
, pp. 184-189
-
-
Elleder, M.1
Tyynela, J.2
-
9
-
-
1042288280
-
The intracellular location and function of proteins of neuronal ceroid lipofuscinoses
-
Ezaki J, Kominami E (2004) The intracellular location and function of proteins of neuronal ceroid lipofuscinoses. Brain Pathol 14:77-85
-
(2004)
Brain Pathol
, vol.14
, pp. 77-85
-
-
Ezaki, J.1
Kominami, E.2
-
10
-
-
0015306580
-
Late infantile amaurotic idiocy (LIAI). Anatomochemical report of a case
-
Haberland C, Brunngraber EG, Witting LA, Hof H (1972) Late infantile amaurotic idiocy (LIAI). Anatomochemical report of a case. Neurology 22:305-311
-
(1972)
Neurology
, vol.22
, pp. 305-311
-
-
Haberland, C.1
Brunngraber, E.G.2
Witting, L.A.3
Hof, H.4
-
11
-
-
0032807271
-
Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene
-
Hartikainen JM, Ju W, Wisniewski KE, Moroziewicz DN, Kaczmarski AL, McLendon L, Zhong D, Suarez CT, Brown WT, Zhong N (1999) Late infantile neuronal ceroid lipofuscinosis is due to splicing mutations in the CLN2 gene. Mol Genet Metab 67:162-168
-
(1999)
Mol Genet Metab
, vol.67
, pp. 162-168
-
-
Hartikainen, J.M.1
Ju, W.2
Wisniewski, K.E.3
Moroziewicz, D.N.4
Kaczmarski, A.L.5
McLendon, L.6
Zhong, D.7
Suarez, C.T.8
Brown, W.T.9
Zhong, N.10
-
12
-
-
0036849712
-
Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles
-
Ju W, Zhong R, Moore S, Moroziewicz D, Currie JR, Parfrey P, Brown WT, Zhong N (2002) Identification of novel CLN2 mutations shows Canadian specific NCL2 alleles. J Med Genet 39:822-825
-
(2002)
J Med Genet
, vol.39
, pp. 822-825
-
-
Ju, W.1
Zhong, R.2
Moore, S.3
Moroziewicz, D.4
Currie, J.R.5
Parfrey, P.6
Brown, W.T.7
Zhong, N.8
-
14
-
-
0035434723
-
Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations
-
Lin L, Lobel P (2001) Expression and analysis of CLN2 variants in CHO cells: Q100R represents a polymorphism, and G389E and R447H represent loss-of-function mutations. Hum Mutat 18:165
-
(2001)
Hum Mutat
, vol.18
, pp. 165
-
-
Lin, L.1
Lobel, P.2
-
15
-
-
1042299968
-
The genetic spectrum of human neuronal ceroid-lipofuscinoses
-
Mole SE (2004) The genetic spectrum of human neuronal ceroid-lipofuscinoses. Brain Pathol 14:70-76
-
(2004)
Brain Pathol
, vol.14
, pp. 70-76
-
-
Mole, S.E.1
-
16
-
-
33846706777
-
Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1
-
Ramadan H, Al-Din AS, Ismail A, Balen F, Varma A, Twomey A, Watts R, Jackson M, Anderson G, Green E, Mole SE (2007) Adult neuronal ceroid lipofuscinosis caused by deficiency in palmitoyl protein thioesterase 1. Neurology 68:387-388
-
(2007)
Neurology
, vol.68
, pp. 387-388
-
-
Ramadan, H.1
Al-Din, A.S.2
Ismail, A.3
Balen, F.4
Varma, A.5
Twomey, A.6
Watts, R.7
Jackson, M.8
Anderson, G.9
Green, E.10
Mole, S.E.11
-
17
-
-
33745079623
-
Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis
-
Siintola E, Partanen S, Stromme P, Haapanen A, Haltia M, Maehlen J, Lehesjoki AE, Tyynela J (2006) Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis. Brain 129:1438-1445
-
(2006)
Brain
, vol.129
, pp. 1438-1445
-
-
Siintola, E.1
Partanen, S.2
Stromme, P.3
Haapanen, A.4
Haltia, M.5
Maehlen, J.6
Lehesjoki, A.E.7
Tyynela, J.8
-
18
-
-
0030866233
-
Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis
-
Sleat DE, Donnelly RJ, Lackland H, Liu CG, Sohar I, Pullarkat RK, Lobel P (1997) Association of mutations in a lysosomal protein with classical late-infantile neuronal ceroid lipofuscinosis. Science 277:1802-1805
-
(1997)
Science
, vol.277
, pp. 1802-1805
-
-
Sleat, D.E.1
Donnelly, R.J.2
Lackland, H.3
Liu, C.G.4
Sohar, I.5
Pullarkat, R.K.6
Lobel, P.7
-
19
-
-
0036837655
-
Late infantile neuronal ceroid lipofuscinosis: Quantitative description of the clinical course in patients with CLN2 mutations
-
Steinfeld R, Heim P, von Gregory H, Meyer K, Ullrich K, Goebel HH, Kohlschutter A (2002) Late infantile neuronal ceroid lipofuscinosis: quantitative description of the clinical course in patients with CLN2 mutations. Am J Med Genet 112:347-354
-
(2002)
Am J Med Genet
, vol.112
, pp. 347-354
-
-
Steinfeld, R.1
Heim, P.2
von Gregory, H.3
Meyer, K.4
Ullrich, K.5
Goebel, H.H.6
Kohlschutter, A.7
-
20
-
-
33646871344
-
Cathepsin D deficiency is associated with a human neurodegenerative disorder
-
Steinfeld R, Reinhardt K, Schreiber K, Hillebrand M, Kraetzner R, Bruck W, Saftig P, Gartner J (2006) Cathepsin D deficiency is associated with a human neurodegenerative disorder. Am J Hum Genet 78:988-998
-
(2006)
Am J Hum Genet
, vol.78
, pp. 988-998
-
-
Steinfeld, R.1
Reinhardt, K.2
Schreiber, K.3
Hillebrand, M.4
Kraetzner, R.5
Bruck, W.6
Saftig, P.7
Gartner, J.8
-
21
-
-
8744251345
-
Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: Distinct patterns of storage deposition, neurodegeneration and glial activation
-
Tyynela J, Cooper JD, Khan MN, Shemilts SJ, Haltia M (2004) Hippocampal pathology in the human neuronal ceroid-lipofuscinoses: Distinct patterns of storage deposition, neurodegeneration and glial activation. Brain Pathol 14:349-357
-
(2004)
Brain Pathol
, vol.14
, pp. 349-357
-
-
Tyynela, J.1
Cooper, J.D.2
Khan, M.N.3
Shemilts, S.J.4
Haltia, M.5
-
22
-
-
0034903333
-
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: First adult-onset patients of a childhood disease
-
van Diggelen OP, Thobois S, Tilikete C, Zabot MT, Keulemans JL, van Bunderen PA, Taschner PE, Losekoot M, Voznyi YV (2001) Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease. Ann Neurol 50:269-272
-
(2001)
Ann Neurol
, vol.50
, pp. 269-272
-
-
van Diggelen, O.P.1
Thobois, S.2
Tilikete, C.3
Zabot, M.T.4
Keulemans, J.L.5
van Bunderen, P.A.6
Taschner, P.E.7
Losekoot, M.8
Voznyi, Y.V.9
-
23
-
-
0029153109
-
Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis
-
Vesa J, Hellsten E, Verkruyse LA, Camp LA, Rapola J, Santavuori P, Hofmann SL, Peltonen L (1995) Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 376:584-587
-
(1995)
Nature
, vol.376
, pp. 584-587
-
-
Vesa, J.1
Hellsten, E.2
Verkruyse, L.A.3
Camp, L.A.4
Rapola, J.5
Santavuori, P.6
Hofmann, S.L.7
Peltonen, L.8
-
24
-
-
0003090283
-
CLN2, Classic Late Infantile NCL
-
In: Goebel HH, Mole SE, Lake BD (eds) IOS Press, Amsterdam
-
Williams RE (1999) CLN2, Classic Late Infantile NCL. In: Goebel HH, Mole SE, Lake BD (eds) The Neuronal Ceroid Lipofuscinoses (Batten Disease). IOS Press, Amsterdam, pp 37-40
-
(1999)
The Neuronal Ceroid Lipofuscinoses (Batten Disease)
, pp. 37-40
-
-
Williams, R.E.1
-
25
-
-
0032769702
-
Reevaluation of neuronal ceroid lipofuscinoses: Atypical juvenile onset may be the result of CLN2 mutations
-
Wisniewski KE, Kaczmarski A, Kida E, Connell F, Kaczmarski W, Michalewski MP, Moroziewicz DN, Zhong N (1999) Reevaluation of neuronal ceroid lipofuscinoses: Atypical juvenile onset may be the result of CLN2 mutations. Mol Genet Metab 66:248-252
-
(1999)
Mol Genet Metab
, vol.66
, pp. 248-252
-
-
Wisniewski, K.E.1
Kaczmarski, A.2
Kida, E.3
Connell, F.4
Kaczmarski, W.5
Michalewski, M.P.6
Moroziewicz, D.N.7
Zhong, N.8
-
26
-
-
0035221979
-
Neuronal Ceroid Lipofuscinoses: Classification and Diagnosis
-
In Academic Press, New York
-
Wisniewski KE, Kida E, Golabek AA, Kaczmarski W, Connel F, Zhong N (2001) Neuronal Ceroid Lipofuscinoses: Classification and Diagnosis.In Advances in Genetics. Academic Press, New York, pp 1-30
-
(2001)
Advances in Genetics
, pp. 1-30
-
-
Wisniewski, K.E.1
Kida, E.2
Golabek, A.A.3
Kaczmarski, W.4
Connel, F.5
Zhong, N.6
-
27
-
-
3042675464
-
A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases
-
Wlodawer A, Durell SR, Li M, Oyama H, Oda K, Dunn BM (2003) A model of tripeptidyl-peptidase I (CLN2), a ubiquitous and highly conserved member of the sedolisin family of serine-carboxyl peptidases. BMC Struct Biol 3:8
-
(2003)
BMC Struct Biol
, vol.3
, pp. 8
-
-
Wlodawer, A.1
Durell, S.R.2
Li, M.3
Oyama, H.4
Oda, K.5
Dunn, B.M.6
-
28
-
-
0034919291
-
Pre-and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities
-
Young EP, Worthington VC, Jackson M, Winchester BG (2001) Pre-and postnatal diagnosis of patients with CLN1 and CLN2 by assay of palmitoyl-protein thioesterase and tripeptidyl-peptidase I activities. Eur J Paediatr Neurol 5(Suppl A):193-196
-
(2001)
Eur J Paediatr Neurol
, vol.5
, Issue.SUPPL. A
, pp. 193-196
-
-
Young, E.P.1
Worthington, V.C.2
Jackson, M.3
Winchester, B.G.4
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