-
1
-
-
1042265181
-
Current state of clinical and morphological features in human NCL
-
Goebel HH, Wisniewski KE. Current state of clinical and morphological features in human NCL. Brain Pathol 2004; 14:61-69
-
(2004)
Brain Pathol
, vol.14
, pp. 61-69
-
-
Goebel, H.H.1
Wisniewski, K.E.2
-
2
-
-
33750986182
-
The neuronal ceroid-lipofuscinoses: From past to present
-
Haltia M. The neuronal ceroid-lipofuscinoses: from past to present. Biochim Biophys Acta 2006;1762:850-856
-
(2006)
Biochim Biophys Acta
, vol.1762
, pp. 850-856
-
-
Haltia, M.1
-
3
-
-
25844517550
-
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses
-
Mole SE, Williams RE, Goebel HH. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses. Neurogenetics 2005;6:107-126
-
(2005)
Neurogenetics
, vol.6
, pp. 107-126
-
-
Mole, S.E.1
Williams, R.E.2
Goebel, H.H.3
-
4
-
-
0027200417
-
Infantile neuronal ceroid-lipofuscinosis (INCL): Diagnostic criteria
-
Santavuori P, Vanhanen SL, Sainio K, Nieminen M, Wallden T, Launes J, Raininko R. Infantile neuronal ceroid-lipofuscinosis (INCL): diagnostic criteria. J Inherit Metab Dis 1993;16:227-229
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 227-229
-
-
Santavuori, P.1
Vanhanen, S.L.2
Sainio, K.3
Nieminen, M.4
Wallden, T.5
Launes, J.6
Raininko, R.7
-
5
-
-
0027989872
-
Molecular cloning and expression of palmitoyl-protein thioesterase
-
Camp LA, Verkruyse LA, Afendis SJ, Slaughter CA, Hofmann SL. Molecular cloning and expression of palmitoyl-protein thioesterase. J Biol Chem 1994;269:23212-23219
-
(1994)
J Biol Chem
, vol.269
, pp. 23212-23219
-
-
Camp, L.A.1
Verkruyse, L.A.2
Afendis, S.J.3
Slaughter, C.A.4
Hofmann, S.L.5
-
6
-
-
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. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis. Nature 1995;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
-
7
-
-
0000665299
-
The neuronal ceroid lipofuscinosis
-
Scriver CR, Sly WS, Childs B, eds. New York: McGraw-Hill
-
Hofmann SL, Peltonen L. The neuronal ceroid lipofuscinosis. In: Scriver CR, Sly WS, Childs B, eds. The metabolic and molecular bases of inherited disease. New York: McGraw-Hill, 2001: 3877-3894
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, pp. 3877-3894
-
-
Hofmann, S.L.1
Peltonen, L.2
-
8
-
-
0033774736
-
Neuronal ceroid lipofuscinoses in childhood
-
Santavuori P, Lauronen L, Kirveskari E, Aberg L, Sainio K, Autti T. Neuronal ceroid lipofuscinoses in childhood. Neurol Sci 2000;21:S35-S41
-
(2000)
Neurol Sci
, vol.21
-
-
Santavuori, P.1
Lauronen, L.2
Kirveskari, E.3
Aberg, L.4
Sainio, K.5
Autti, T.6
-
9
-
-
0027255270
-
Genetic analysis of Batten disease
-
Gardiner RM. Genetic analysis of Batten disease. J Inherit Metab Dis 1993;16:787-790
-
(1993)
J Inherit Metab Dis
, vol.16
, pp. 787-790
-
-
Gardiner, R.M.1
-
10
-
-
0037226939
-
The neuronal ceroid-lipofuscinoses
-
Haltia M. The neuronal ceroid-lipofuscinoses. J Neuropathol Exp Neurol 2003;62:1-13
-
(2003)
J Neuropathol Exp Neurol
, vol.62
, pp. 1-13
-
-
Haltia, M.1
-
11
-
-
0032243415
-
Standard for clinical electroretinography (1999 update)
-
International Society for Clinical Electrophysiology of Vision
-
Marmor MF, Zrenner E. Standard for clinical electroretinography (1999 update). International Society for Clinical Electrophysiology of Vision. Doc Ophthalmol 1998;97:143-156
-
(1998)
Doc Ophthalmol
, vol.97
, pp. 143-156
-
-
Marmor, M.F.1
Zrenner, E.2
-
12
-
-
48849099141
-
Temperature monitoring and perioperative thermoregulation
-
Sessler DI. Temperature monitoring and perioperative thermoregulation. Anesthesiology 2008;109:318-338
-
(2008)
Anesthesiology
, vol.109
, pp. 318-338
-
-
Sessler, D.I.1
-
13
-
-
0036235009
-
Anesthetic management for a patient with Jansky-Bielschowsky disease
-
Yamada Y, Doi K, Sakura S, Saito Y. Anesthetic management for a patient with Jansky-Bielschowsky disease. Can J Anaesth 2002;49:81-83
-
(2002)
Can J Anaesth
, vol.49
, pp. 81-83
-
-
Yamada, Y.1
Doi, K.2
Sakura, S.3
Saito, Y.4
-
14
-
-
33645298444
-
Anesthesia management in neuronal ceroid lipofuscinoses
-
Pereira D, Pereira M, Caldas F. Anesthesia management in neuronal ceroid lipofuscinoses. Paediatr Anaesth 2006;16:356-358
-
(2006)
Paediatr Anaesth
, vol.16
, pp. 356-358
-
-
Pereira, D.1
Pereira, M.2
Caldas, F.3
-
16
-
-
0025028782
-
Anesthesia for a patient with Kufs' disease
-
Defalque RJ. Anesthesia for a patient with Kufs' disease. Anesthesiology 1990;73:1041-1042
-
(1990)
Anesthesiology
, vol.73
, pp. 1041-1042
-
-
Defalque, R.J.1
-
17
-
-
33744469024
-
Brain magnetic resonance imaging increases core body temperature in sedated children
-
Bryan YF, Templeton TW, Nick TG, Szafran M, Tung A. Brain magnetic resonance imaging increases core body temperature in sedated children. Anesth Analg 2006;102:1674-1679
-
(2006)
Anesth Analg
, vol.102
, pp. 1674-1679
-
-
Bryan, Y.F.1
Templeton, T.W.2
Nick, T.G.3
Szafran, M.4
Tung, A.5
-
18
-
-
4644336661
-
Iatrogenic hyperthermia during cardiac magnetic resonance imaging
-
Kussman BD, Mulkern RV, Holzman RS. Iatrogenic hyperthermia during cardiac magnetic resonance imaging. Anesth Analg 2004;99:1053-1055
-
(2004)
Anesth Analg
, vol.99
, pp. 1053-1055
-
-
Kussman, B.D.1
Mulkern, R.V.2
Holzman, R.S.3
-
19
-
-
60249096953
-
Effect of brain magnetic resonance imaging on body core temperature in sedated infants and children
-
Machata AM, Willschke H, Kabon B, Prayer D, Marhofer P. Effect of brain magnetic resonance imaging on body core temperature in sedated infants and children. Br J Anaesth 2009;102:385-389
-
(2009)
Br J Anaesth
, vol.102
, pp. 385-389
-
-
MacHata, A.M.1
Willschke, H.2
Kabon, B.3
Prayer, D.4
Marhofer, P.5
-
20
-
-
0029076646
-
Circadian rhythm studies in neuronal ceroid-lipofuscinosis (NCL)
-
Heikkila E, Hatonen TH, Telakivi T, Laakso ML, Heiskala H, Salmi T, Alila A, Santavuori P. Circadian rhythm studies in neuronal ceroid-lipofuscinosis (NCL). Am J Med Genet 1995; 57:229-234
-
(1995)
Am J Med Genet
, vol.57
, pp. 229-234
-
-
Heikkila, E.1
Hatonen, T.H.2
Telakivi, T.3
Laakso, M.L.4
Heiskala, H.5
Salmi, T.6
Alila, A.7
Santavuori, P.8
-
21
-
-
33750437278
-
Thermoregulatory and metabolic defects in Huntington's disease transgenic mice implicate PGC-1alpha in Huntington's disease neurodegeneration
-
Weydt P, Pineda VV, Torrence AE, Libby RT, Satterfield TF, Lazarowski ER, Gilbert ML, Morton GJ, Bammler TK, Strand AD, Cui L, Beyer RP, Easley CN, Smith AC, Krainc D, Luquet S, Sweet IR, Schwartz MW, La Spada AR. Thermoregulatory and metabolic defects in Huntington's disease transgenic mice implicate PGC-1alpha in Huntington's disease neurodegeneration. Cell Metab 2006;4:349-362
-
(2006)
Cell Metab
, vol.4
, pp. 349-362
-
-
Weydt, P.1
Pineda, V.V.2
Torrence, A.E.3
Libby, R.T.4
Satterfield, T.F.5
Lazarowski, E.R.6
Gilbert, M.L.7
Morton, G.J.8
Bammler, T.K.9
Strand, A.D.10
Cui, L.11
Beyer, R.P.12
Easley, C.N.13
Smith, A.C.14
Krainc, D.15
Luquet, S.16
Sweet, I.R.17
Schwartz, M.W.18
La Spada, A.R.19
-
22
-
-
0034926037
-
Cardiac pathology in neuronal ceroid lipofuscinoses-a clinicopathologic correlation in three patients
-
Hofman IL, van der Wal AC, Dingemans KP, Becker AE. Cardiac pathology in neuronal ceroid lipofuscinoses-a clinicopathologic correlation in three patients. Eur J Paediatr Neurol 2001;5(suppl A):213-217
-
(2001)
Eur J Paediatr Neurol
, vol.5
, Issue.SUPPL. A
, pp. 213-217
-
-
Hofman, I.L.1
Van Der Wal, A.C.2
Dingemans, K.P.3
Becker, A.E.4
-
23
-
-
1942470070
-
Convulsions on anaesthetic induction with sevoflurane in young children
-
Akeson J, Didriksson I. Convulsions on anaesthetic induction with sevoflurane in young children. Acta Anaesthesiol Scand 2004;48:405-407
-
(2004)
Acta Anaesthesiol Scand
, vol.48
, pp. 405-407
-
-
Akeson, J.1
Didriksson, I.2
|