-
1
-
-
0000086555
-
-
8th ed., McGraw-Hill, New York
-
Scriver, C. R., Beaudet, A. L., Sly, W. S., Valle, D. The Metabolic and Molecular Bases of Inherited Disease, Vol 2, 8th ed., McGraw-Hill, New York 2001, pp. 2065-2078.
-
(2001)
The Metabolic and Molecular Bases of Inherited Disease
, vol.2
, pp. 2065-2078
-
-
Scriver, C.R.1
Beaudet, A.L.2
Sly, W.S.3
Valle, D.4
-
2
-
-
2942592526
-
Glycine encephalopathy (nonketotic hyperglycinaemia): review and update J
-
Applegarth, D. A., Toone, J. R., Glycine encephalopathy (nonketotic hyperglycinaemia): review and update J. Inherit. Metab. Dis. 2004, 27, 417-422.
-
(2004)
Inherit. Metab. Dis.
, vol.27
, pp. 417-422
-
-
Applegarth, D.A.1
Toone, J.R.2
-
3
-
-
0035797566
-
Genetic clues to the cause of primary pulmonary hypertension
-
Loscalzo, J., Genetic clues to the cause of primary pulmonary hypertension. N. Engl. J. Med. 2001, 345, 367-371.
-
(2001)
N. Engl. J. Med.
, vol.345
, pp. 367-371
-
-
Loscalzo, J.1
-
4
-
-
0034034263
-
Pulmonary hypertension associated with nonketotic hyperglycinaemia
-
Cataltepe, S., van Marter, L. J., Kozakewich, H., Wessel, D. L. et al. Pulmonary hypertension associated with nonketotic hyperglycinaemia. J. Inher. Metab. Dis. 2000, 23, 137-144.
-
(2000)
J. Inher. Metab. Dis.
, vol.23
, pp. 137-144
-
-
Cataltepe, S.1
van Marter, L.J.2
Kozakewich, H.3
Wessel, D.L.4
-
5
-
-
77951048885
-
-
30th SSIEM Conference Leuven
-
Riudor, E., Urgellés, M., Colomer, L. et al., Familial pulmonary hypertension with nonketotic hyperglycinemia. 30th SSIEM Conference Leuven. 1992, A38.
-
(1992)
Familial pulmonary hypertension with nonketotic hyperglycinemia
-
-
Riudor, E.1
Urgellés, M.2
Colomer, L.3
-
6
-
-
33745714464
-
Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension
-
Del Toro, M., Arranz, J. A., Macaya, A., Riudor, E. et al., Progressive vacuolating glycine leukoencephalopathy with pulmonary hypertension. Ann. Neurol. 2006, 60, 148-152.
-
(2006)
Ann. Neurol.
, vol.60
, pp. 148-152
-
-
Del Toro, M.1
Arranz, J.A.2
Macaya, A.3
Riudor, E.4
-
7
-
-
21044455621
-
Complement protein isoforms in CSF as possible biomarkers for neurodegenerative disease
-
Finehout, E. J., Franck, Z., Lee, K. H., Complement protein isoforms in CSF as possible biomarkers for neurodegenerative disease. Dis. Markers 2005, 21, 93-101.
-
(2005)
Dis. Markers
, vol.21
, pp. 93-101
-
-
Finehout, E.J.1
Franck, Z.2
Lee, K.H.3
-
8
-
-
0037203346
-
Studies of the pathophysiological mechanisms in frontotemporal dementia by proteome analysis of CSF proteins
-
Davidsson, P., Sjogren, M., Andreasen, N., Lindbjer, M. et al., Studies of the pathophysiological mechanisms in frontotemporal dementia by proteome analysis of CSF proteins. Brain Res. Mol. Brain Res. 2002, 109, 128-133.
-
(2002)
Brain Res. Mol Brain Res.
, vol.109
, pp. 128-133
-
-
Davidsson, P.1
Sjogren, M.2
Andreasen, N.3
Lindbjer, M.4
-
9
-
-
0141957321
-
Proteomic studies of potential cerebrospinal fluid protein markers for Alzheimer's disease
-
Puchades, M., Hansson, S. F., Nilsson, C. L., Andreasen, N. et al., Proteomic studies of potential cerebrospinal fluid protein markers for Alzheimer's disease. Brain Res. Mol. Brain Res. 2003, 118, 140-146.
-
(2003)
Brain Res. Mol Brain Res.
, vol.118
, pp. 140-146
-
-
Puchades, M.1
Hansson, S.F.2
Nilsson, C.L.3
Andreasen, N.4
-
10
-
-
0037117721
-
Proteome analysis of cerebrospinal fluid proteins in Alzheimer patients
-
Davidsson, P., Westman-Brinkmalm, A., Nilsson, C. L., Lindbjer, M. et al. Proteome analysis of cerebrospinal fluid proteins in Alzheimer patients. Neuroreport 2002, 13, 611-615.
-
(2002)
Neuroreport
, vol.13
, pp. 611-615
-
-
Davidsson, P.1
Westman-Brinkmalm, A.2
Nilsson, C.L.3
Lindbjer, M.4
-
11
-
-
33749511331
-
Searching for markers of Creutzfeldt-Jakob disease in cerebrospinal fluid by two-dimensional mapping
-
Piubelli, C., Fiorini, M., Zanusso, G., Milli, A. et al., Searching for markers of Creutzfeldt-Jakob disease in cerebrospinal fluid by two-dimensional mapping. Proteomics 2006, 6, S256-S261.
-
(2006)
Proteomics
, vol.6
-
-
Piubelli, C.1
Fiorini, M.2
Zanusso, G.3
Milli, A.4
-
12
-
-
28844432511
-
Proteomic profiling of cerebrospinal fluid identifies biomarkers for amyotrophic lateral sclerosis
-
Raganathan, S., Williams, E., Ganchev, P., Gopalakrishnan, V. et al., Proteomic profiling of cerebrospinal fluid identifies biomarkers for amyotrophic lateral sclerosis. J. Neurochem. 2005, 95, 1461-1471.
-
(2005)
J. Neurochem.
, vol.95
, pp. 1461-1471
-
-
Raganathan, S.1
Williams, E.2
Ganchev, P.3
Gopalakrishnan, V.4
-
13
-
-
27444445959
-
Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease
-
Vanderver, A., Schiffmann, R., Timmons, M., Kellersberger, K. A. et al., Decreased asialotransferrin in cerebrospinal fluid of patients with childhood-onset ataxia and central nervous system hypomyelination/vanishing white matter disease. Clin. Chem. 2005, 51, 2031-2042.
-
(2005)
Clin. Chem.
, vol.51
, pp. 2031-2042
-
-
Vanderver, A.1
Schiffmann, R.2
Timmons, M.3
Kellersberger, K.A.4
-
14
-
-
33745681932
-
A new presentation of nonketotic hyperglycinaemia with primary pulmonary hypertension and branched chain acylglycines with fatal outcome in three families
-
Riudor, E., Arranz, J. A., del Toro, M. et al. A new presentation of nonketotic hyperglycinaemia with primary pulmonary hypertension and branched chain acylglycines with fatal outcome in three families. J. Inherit. Metab. Dis. 2001, 24, Suppl 1, 35.
-
(2001)
J. Inherit. Metab. Dis.
, vol.24
, Issue.SUPPL. 1
, pp. 35
-
-
Riudor, E.1
Arranz, J.A.2
del Toro, M.3
-
15
-
-
33751087882
-
Identification of substrates of the extracellular protease ADAMTS1 by DIGE proteomic analysis
-
Canals, F., Colomé, N., Ferrer, C., Plaza-Calonge, Mdel C., Rodríguez-Manzaneque, J. C., Identification of substrates of the extracellular protease ADAMTS1 by DIGE proteomic analysis. Proteomics 2006, 6, S28-S35.
-
(2006)
Proteomics
, vol.6
-
-
Canals, F.1
Colomé, N.2
Ferrer, C.3
Plaza-Calonge Mdel, C.4
Rodríguez-Manzaneque, J.C.5
-
16
-
-
29244434070
-
Comparative proteomic analysis of intraand interindividual variation in human cerebrospinal fluid
-
Hu, Y., Malone, J. P., Fagan, A. M., Townsend, R. R., Holtzman, D. M., Comparative proteomic analysis of intraand interindividual variation in human cerebrospinal fluid. Mol. Cell Proteom. 2005, 4, 2000-2009.
-
(2005)
Mol. Cell Proteom.
, vol.4
, pp. 2000-2009
-
-
Hu, Y.1
Malone, J.P.2
Fagan, A.M.3
Townsend, R.R.4
Holtzman, D.M.5
-
17
-
-
0035282811
-
Cerebrospinal fluid analysis: diseaserelated data patterns and evaluation programs
-
Reiber, H., Peter, J. B., Cerebrospinal fluid analysis: diseaserelated data patterns and evaluation programs. J. Neurol. Sci. 2001, 184, 101-122.
-
(2001)
J. Neurol. Sci.
, vol.184
, pp. 101-122
-
-
Reiber, H.1
Peter, J.B.2
-
18
-
-
0035921150
-
Dynamics of brain-derived proteins in cerebrospinal fluid
-
Reiber, H., Dynamics of brain-derived proteins in cerebrospinal fluid. Clin. Chim. Acta 2001, 310, 173-186.
-
(2001)
Clin. Chim. Acta
, vol.310
, pp. 173-186
-
-
Reiber, H.1
-
19
-
-
55749111850
-
Cerebrospinal fluid-optimized two-dimensional difference gel electrophoresis (2-D-DIGE) facilitates the differential diagnosis of Creutzfeldt-Jakob disease
-
Brechlin, P., Jahn, O., Steinacker, P., Cepek, L. et al., Cerebrospinal fluid-optimized two-dimensional difference gel electrophoresis (2-D-DIGE) facilitates the differential diagnosis of Creutzfeldt-Jakob disease. Proteomics 2008, 8, 4357-4366.
-
(2008)
Proteomics
, vol.8
, pp. 4357-4366
-
-
Brechlin, P.1
Jahn, O.2
Steinacker, P.3
Cepek, L.4
-
20
-
-
0036079419
-
Identification of oxidized plasma proteins in Alzheimer's disease
-
Choi, J., Malakowsky, C. A., Talent, J. M., Conrad, C. C., Gracy, R. W., Identification of oxidized plasma proteins in Alzheimer's disease. Biochem. Biophys. Res. Commun. 2002, 293, 1566-1570.
-
(2002)
Biochem. Biophys. Res. Commun.
, vol.293
, pp. 1566-1570
-
-
Choi, J.1
Malakowsky, C.A.2
Talent, J.M.3
Conrad, C.C.4
Gracy, R.W.5
-
21
-
-
1842634504
-
Proteomic identification of specific oxidized proteins in ApoE-knockout mice: relevance to Alzheimer's disease
-
Choi, J., Forster, M. J., McDonald, S. R., Weintraub, S. T. et al., Proteomic identification of specific oxidized proteins in ApoE-knockout mice: relevance to Alzheimer's disease. Free Radic. Biol. Med. 2004, 36, 1155-1162.
-
(2004)
Free Radic. Biol. Med.
, vol.36
, pp. 1155-1162
-
-
Choi, J.1
Forster, M.J.2
McDonald, S.R.3
Weintraub, S.T.4
-
22
-
-
34147221048
-
Multiplexed proteomic analysis of oxidation and concentrations of cerebrospinal fluid proteins in Alzheimer disease
-
Korolainen, M. A., Nyman, T. A., Nyyssönen, P., Hartikainen, E. S., Pirttila., T., Multiplexed proteomic analysis of oxidation and concentrations of cerebrospinal fluid proteins in Alzheimer disease. Clin. Chem. 2007, 53, 657-665.
-
(2007)
Clin. Chem.
, vol.53
, pp. 657-665
-
-
Korolainen, M.A.1
Nyman, T.A.2
Nyyssönen, P.3
Hartikainen, D.E.4
Pirttila, T.5
-
23
-
-
23844538657
-
Truncated cystatin C in cerebrospinal fluid: Technical artefact or biological process?
-
Carrette, O., Burkhard, P. R., Hughes, S., Hochstrasser, D. F., Sanchez, J. C., Truncated cystatin C in cerebrospinal fluid: Technical artefact or biological process? Proteomics 2005, 5, 3060-3065.
-
(2005)
Proteomics
, vol.5
, pp. 3060-3065
-
-
Carrette, O.1
Burkhard, P.R.2
Hughes, S.3
Hochstrasser, D.F.4
Sanchez, J.C.5
-
24
-
-
17844403545
-
Role of oxidative carbonylation in protein quality control and senescence
-
Nyström, T., Role of oxidative carbonylation in protein quality control and senescence. EMBO J. 2005, 24, 1311-1317.
-
(2005)
EMBO J
, vol.24
, pp. 1311-1317
-
-
Nyström, T.1
-
25
-
-
54949141138
-
Serotonin-mediated protein carbonylation in the right heart
-
Lingling, L., Marcocci, L., Ming, C. W., Park, A. -M., Suzuki, Y. J. Serotonin-mediated protein carbonylation in the right heart. Free Radic. Biol. Med. 2008, 45, 847-854.
-
(2008)
Free Radic. Biol. Med.
, vol.45
, pp. 847-854
-
-
Lingling, L.1
Marcocci, L.2
Ming, C.W.3
Park, A.-M.4
Suzuki, Y.J.5
-
26
-
-
33646023388
-
Vanishing white matter disease
-
Van der Knaap, M. S., Pronk, J. C., Scheper, G. C., Vanishing white matter disease. Lancet Neurol. 2006, 5, 413-423.
-
(2006)
Lancet Neurol
, vol.5
, pp. 413-423
-
-
Van der Knaap, M.S.1
Pronk, J.C.2
Scheper, G.C.3
|