-
1
-
-
0026410619
-
The first Alzheimer disease case: A metachromatic leukodystrophy?
-
L. Amaducci, S. Sorbi, S. Piacentini, K.L. Bick, The first Alzheimer disease case: A metachromatic leukodystrophy? Dev. Neurosci. 13 (1991) 186-187.
-
(1991)
Dev. Neurosci.
, vol.13
, pp. 186-187
-
-
Amaducci, L.1
Sorbi, S.2
Piacentini, S.3
Bick, K.L.4
-
2
-
-
0013887297
-
Metachromatic form of diffuse cerebral sclerosis VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine
-
J.H. Austin, D. Armstrong, I. Sheara, D. McAfee, Metachromatic form of diffuse cerebral sclerosis VI. A rapid test for the sulfatase A deficiency in metachromatic leukodystrophy (MLD) urine, Arch. Neurol. 14 (1966) 259.
-
(1966)
Arch. Neurol.
, vol.14
, pp. 259
-
-
Austin, J.H.1
Armstrong, D.2
Sheara, I.3
McAfee, D.4
-
3
-
-
0026410674
-
Adult forms of metachromatic leukodystrophy: Clinical and biochemical approach
-
N. Baumann, M. Masson, V. Carreau, M. Lefevre, N. Herschkowitz, J.C. Turpin, Adult forms of metachromatic leukodystrophy: Clinical and biochemical approach, Dev. Neurosci. 13 (1991) 211-215.
-
(1991)
Dev. Neurosci.
, vol.13
, pp. 211-215
-
-
Baumann, N.1
Masson, M.2
Carreau, V.3
Lefevre, M.4
Herschkowitz, N.5
Turpin, J.C.6
-
4
-
-
0012546768
-
Five cases of adult metachromatic leukodystrophy with neurological or psychiatric onset: Different genotype/phenotype characteristics
-
Athens. Abstract No. 035
-
N. Baumann, V. Gieselmann, J. Berger, H. Bernheimer, M. Lefevre, J.C. Turpin. Five cases of adult metachromatic leukodystrophy with neurological or psychiatric onset: Different genotype/phenotype characteristics. European meeting on glial cell function in health and disease. (1998) Athens. Abstract No. 035.
-
(1998)
European Meeting on Glial Cell Function in Health and Disease
-
-
Baumann, N.1
Gieselmann, V.2
Berger, J.3
Bernheimer, H.4
Lefevre, M.5
Turpin, J.C.6
-
5
-
-
0035066639
-
Biology of oligodendrocytes and myelin in the mammalian central nervous system
-
N. Baumann, D. Pham-Dinh, Biology of oligodendrocytes and myelin in the mammalian central nervous system, Physiol. Rev. 81 (2001) 871-927.
-
(2001)
Physiol. Rev.
, vol.81
, pp. 871-927
-
-
Baumann, N.1
Pham-Dinh, D.2
-
6
-
-
79957466643
-
Manifestations nerveuses des neurolipidoses
-
Elsevier, Paris. Neurologie. 17-162-D-10
-
N. Baumann, A. Gelot, J.C. Turpin, Manifestations nerveuses des neurolipidoses. Encycl. Médchir. Elsevier, Paris. Neurologie (2002) 17-162-D-10. p.37.
-
(2002)
Encycl. Médchir
, pp. 37
-
-
Baumann, N.1
Gelot, A.2
Turpin, J.C.3
-
7
-
-
0033588276
-
Evidence for activation of microglia in patients with psychiatric illnesses
-
T.A. Bayer, R. Buslei, L. Havas. P. Falkai, Evidence for activation of microglia in patients with psychiatric illnesses, Neurosci. Lett. 271 (1999) 126-128.
-
(1999)
Neurosci. Lett.
, vol.271
, pp. 126-128
-
-
Bayer, T.A.1
Buslei, R.2
Havas, L.3
Falkai, P.4
-
8
-
-
0027434879
-
Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations
-
J. Berger, B., Molzer, V. Gieselmann, H. Bernheimer, Simultaneous detection of the two most frequent metachromatic leukodystrophy mutations, Hum. Genet. 92 (1993) 421-423.
-
(1993)
Hum. Genet.
, vol.92
, pp. 421-423
-
-
Berger, J.1
Molzer, B.2
Gieselmann, V.3
Bernheimer, H.4
-
9
-
-
0030912761
-
Deux cas familiaux de leucodystrophie métachromatique ȧ expression tardive
-
J.L. Brault, V. Gieselmann, A. Carpentier, M. Lefevre, J.C. Turpin, N. Baumann, Deux cas familiaux de leucodystrophie métachromatique ȧ expression tardive, Rev. Neurol. (Paris) 153 (1997) 193-196.
-
(1997)
Rev. Neurol. (Paris)
, vol.153
, pp. 193-196
-
-
Brault, J.L.1
Gieselmann, V.2
Carpentier, A.3
Lefevre, M.4
Turpin, J.C.5
Baumann, N.6
-
10
-
-
0014236910
-
Glial cells and the central myelin sheath
-
R.P. Bunge, Glial cells and the central myelin sheath, Physiol. Rev. 48 (1968) 197-210.
-
(1968)
Physiol. Rev.
, vol.48
, pp. 197-210
-
-
Bunge, R.P.1
-
11
-
-
0029328619
-
Biochemical subtypes of oligodendrocyte in the anterior medullary velum of the rat as revealed by the monoclonal antibody Rip
-
A.M. Butt, M. Ibrahim, F.M. Ruge, M. Berry, Biochemical subtypes of oligodendrocyte in the anterior medullary velum of the rat as revealed by the monoclonal antibody Rip, Glia 14 (1995) 185-197.
-
(1995)
Glia
, vol.14
, pp. 185-197
-
-
Butt, A.M.1
Ibrahim, M.2
Ruge, F.M.3
Berry, M.4
-
12
-
-
0026410287
-
Biochemical basis of late onset neurolipidosis
-
E. Conzelmann, K. Sandhoff, Biochemical basis of late onset neurolipidosis, Dev. Neurosci. 13 (2001) 197-204.
-
(2001)
Dev. Neurosci.
, vol.13
, pp. 197-204
-
-
Conzelmann, E.1
Sandhoff, K.2
-
13
-
-
0016384161
-
Utilisation de l'électrophorèse pour la détection de la Leucodystrophie Métachromatique à partir de leucocytes humains
-
G. Dubois, J.C. Turpin, N. Baumann, Utilisation de l'électrophorèse pour la détection de la Leucodystrophie Métachromatique à partir de leucocytes humains, C. R. Acad. Sci. (Paris) 278 (1974) 1401-1403.
-
(1974)
C. R. Acad. Sci. (Paris)
, vol.278
, pp. 1401-1403
-
-
Dubois, G.1
Turpin, J.C.2
Baumann, N.3
-
14
-
-
0016845458
-
Absence of ASA activity in the healthy father of a metachromatic leukodystrophy (MLD) patient
-
G. Dubois, J.C. Turpin, N. Baumann, Absence of ASA activity in the healthy father of a metachromatic leukodystrophy (MLD) patient, N. Engl. J. Med. 293 (1975) 302.
-
(1975)
N. Engl. J. Med.
, vol.293
, pp. 302
-
-
Dubois, G.1
Turpin, J.C.2
Baumann, N.3
-
15
-
-
0032102877
-
Galactolipids in the formation and function of the myelin sheath
-
J.L. Dupree, K. Suzuki, B. Popko, Galactolipids in the formation and function of the myelin sheath. Microsc. Res. Tech. 41 (1998) 431-440.
-
(1998)
Microsc. Res. Tech.
, vol.41
, pp. 431-440
-
-
Dupree, J.L.1
Suzuki, K.2
Popko, B.3
-
16
-
-
0026353838
-
Two new arylsulfatase A (ASA) mutations in a juvenile metachromatic leukodystrophy
-
A.L. Fluharty, C.B. Fluharty, W. Bohne, K. Von Figura, V. Gieselmann, Two new arylsulfatase A (ASA) mutations in a juvenile metachromatic leukodystrophy, Am. J. Hum. Genet. 49 (1991) 1340-1350.
-
(1991)
Am. J. Hum. Genet.
, vol.49
, pp. 1340-1350
-
-
Fluharty, A.L.1
Fluharty, C.B.2
Bohne, W.3
Von Figura, K.4
Gieselmann, V.5
-
17
-
-
0034018882
-
In vivo investigation of white matter pathology in schizophrenia with magnetisation transfer imaging
-
J. Foong, M. Maier, G.J. Barker, S. Brocklehurst, D.H. Miller, M.A. Ron, In vivo investigation of white matter pathology in schizophrenia with magnetisation transfer imaging, J. Neurol. Neurosurg. Psychiatry 68 (2000) 70-74.
-
(2000)
J. Neurol. Neurosurg. Psychiatry
, vol.68
, pp. 70-74
-
-
Foong, J.1
Maier, M.2
Barker, G.J.3
Brocklehurst, S.4
Miller, D.H.5
Ron, M.A.6
-
18
-
-
0028148250
-
Molecular genetics of metachromatic leukodystrophy
-
V. Gieselmann, J. Zlotogora, A. Harris, D. Wenger, C.P. Morris, Molecular genetics of metachromatic leukodystrophy, Hum. Mutat. 4 (1994) 233-243.
-
(1994)
Hum. Mutat.
, vol.4
, pp. 233-243
-
-
Gieselmann, V.1
Zlotogora, J.2
Harris, A.3
Wenger, D.4
Morris, C.P.5
-
19
-
-
0033227181
-
Metachromatic leukodystrophy: A newly identified mutation in arylsulphatase A: D281Y, found as a compound heterozygote with I179L in an adult onset case
-
D.J. Halsall, E.P. Halligan, T.S. Elsey, T.M. Cox, Metachromatic leukodystrophy: A newly identified mutation in arylsulphatase A: D281Y, found as a compound heterozygote with I179L in an adult onset case, Hum. Mutat. 14 (1999) 447.
-
(1999)
Hum. Mutat.
, vol.14
, pp. 447
-
-
Halsall, D.J.1
Halligan, E.P.2
Elsey, T.S.3
Cox, T.M.4
-
20
-
-
0034101718
-
Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy
-
S. Hermann, F. Schestag, A. Polten, S. Kafert, J. Penzien, J. Zlotogora, N. Baumann, V. Giselmann, Characterization of four arylsulfatase A missense mutations G86D, Y201C, D255H, and E312D causing metachromatic leukodystrophy, Am. J. Med. Genet. 91 (2000) 68-73.
-
(2000)
Am. J. Med. Genet.
, vol.91
, pp. 68-73
-
-
Hermann, S.1
Schestag, F.2
Polten, A.3
Kafert, S.4
Penzien, J.5
Zlotogora, J.6
Baumann, N.7
Giselmann, V.8
-
21
-
-
10544235699
-
Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy
-
B. Hess, P. Saftig, D. Hartmann, R. Coenen, R. Lullmann-Rauch, H.H. Goebel, M. Ebers, K. Von Figura, R. D'Hooge, G. Nagels, P. De Deyn, C. Peters, V. Gieselmann, Phenotype of arylsulfatase A-deficient mice: Relationship to human metachromatic leukodystrophy, Proc. Natl. Acad. Sci. (USA) 25 (1996) 14821-14826.
-
(1996)
Proc. Natl. Acad. Sci. (USA)
, vol.25
, pp. 14821-14826
-
-
Hess, B.1
Saftig, P.2
Hartmann, D.3
Coenen, R.4
Lullmann-Rauch, R.5
Goebel, H.H.6
Ebers, M.7
Von Figura, K.8
D'Hooge, R.9
Nagels, G.10
De Deyn, P.11
Peters, C.12
Gieselmann, V.13
-
22
-
-
0026517334
-
Psychiatric disturbances in metachromatic leukodystrophy: Insight into the neurobiology of psychosis
-
T.M. Hyde, J.C. Ziegler, D.R. Weinberger, Psychiatric disturbances in metachromatic leukodystrophy: Insight into the neurobiology of psychosis, Arch. Neurol. 49 (1992) 401-406.
-
(1992)
Arch. Neurol.
, vol.49
, pp. 401-406
-
-
Hyde, T.M.1
Ziegler, J.C.2
Weinberger, D.R.3
-
23
-
-
0024557870
-
IgM gammopathy and polyneuropathy react with an antigenic glycolipid present in human central nervous system
-
M.O. Jauberteau, A. Ben Younes-Chennoufi, M. Rigaud, N. Baumann, IgM gammopathy and polyneuropathy react with an antigenic glycolipid present in human central nervous system, Neurosci. Lett. 97 (1989) 181-184.
-
(1989)
Neurosci. Lett.
, vol.97
, pp. 181-184
-
-
Jauberteau, M.O.1
Ben Younes-Chennoufi, A.2
Rigaud, M.3
Baumann, N.4
-
24
-
-
0016228106
-
The lipid composition and Na+-K+ -dependent adenosine triphosphatase activity of the salt (nasal) gland of eider duck and herring gull: A role for sulfatide in sodium-ion transport
-
K.A. Karlsson, B.E. Samuelsson, G.O. Steen, The lipid composition and Na+-K+ -dependent adenosine triphosphatase activity of the salt (nasal) gland of eider duck and herring gull: A role for sulfatide in sodium-ion transport, Eur. J. Biochem. 46 (1974) 243-258.
-
(1974)
Eur. J. Biochem.
, vol.46
, pp. 243-258
-
-
Karlsson, K.A.1
Samuelsson, B.E.2
Steen, G.O.3
-
25
-
-
0029143678
-
Microglia: The effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases
-
W. Krivit, J.H. Sung, E.G. Shapiro, L.A. Lockman, Microglia: The effector cell for reconstitution of the central nervous system following bone marrow transplantation for lysosomal and peroxisomal storage diseases, Cell Transplant 4 (1995) 385-392.
-
(1995)
Cell Transplant
, vol.4
, pp. 385-392
-
-
Krivit, W.1
Sung, J.H.2
Shapiro, E.G.3
Lockman, L.A.4
-
26
-
-
84886616258
-
Opiate binding to cerebroside sulfate: A model system for opiate receptor interaction
-
H.H. Loh, T.M. Cho, Y.C. Wu, R.A. Harris, E.L. Way, Opiate binding to cerebroside sulfate: A model system for opiate receptor interaction, Life Sci. 16 (1975) 1911-1918.
-
(1975)
Life Sci.
, vol.16
, pp. 1911-1918
-
-
Loh, H.H.1
Cho, T.M.2
Wu, Y.C.3
Harris, R.A.4
Way, E.L.5
-
27
-
-
0026042634
-
Improved synthesis of (1-14 C) acyl-sphingosine-galactose-3-sulfate (sulfatide) for diagnosis of metachromatic leukodystrophy: Usefulness of radioscanning
-
M. Masson, W.X. Li, A.L. Fluharty, J.P. Beaucourt, J.C. Turpin, N. Baumann, Improved synthesis of (1-14 C) acyl-sphingosine-galactose-3-sulfate (sulfatide) for diagnosis of metachromatic leukodystrophy: Usefulness of radioscanning, Clinica Chimica Acta 201 (1991) 57-168.
-
(1991)
Clinica Chimica Acta
, vol.201
, pp. 57-168
-
-
Masson, M.1
Li, W.X.2
Fluharty, A.L.3
Beaucourt, J.P.4
Turpin, J.C.5
Baumann, N.6
-
28
-
-
0026085978
-
Molecular basis of different forms of metachromatic leukodystrophy
-
A. Polten, A.L. Fluharty, C.B Fluharty, J. Kappler, K. Von Figura, V. Gieselmann, Molecular basis of different forms of metachromatic leukodystrophy, N. Engl. J. Med. 324 (1991) 18-22.
-
(1991)
N. Engl. J. Med.
, vol.324
, pp. 18-22
-
-
Polten, A.1
Fluharty, A.L.2
Fluharty, C.B.3
Kappler, J.4
Von Figura, K.5
Gieselmann, V.6
-
29
-
-
0035956418
-
Neogenesis of cerebellar Purkinje neurons from gene-marked bone marrow cells in vivo
-
J. Priller, D.A. Persons, F.F. Klett, G. Campermann, G.W. Kreutzberg, U. Dirnagl, Neogenesis of cerebellar Purkinje neurons from gene-marked bone marrow cells in vivo, J. Cell Biol. 155 (2001) 733-738.
-
(2001)
J. Cell Biol.
, vol.155
, pp. 733-738
-
-
Priller, J.1
Persons, D.A.2
Klett, F.F.3
Campermann, G.4
Kreutzberg, G.W.5
Dirnagl, U.6
-
30
-
-
0032853773
-
The glycosphingolipidoses from disease to basic principles of metabolism
-
C.G. Schuette, T. Boering, T. Kolter, K. Sandhoff, The glycosphingolipidoses from disease to basic principles of metabolism, J. Biol. Chem. 380 (1999) 759-766.
-
(1999)
J. Biol. Chem.
, vol.380
, pp. 759-766
-
-
Schuette, C.G.1
Boering, T.2
Kolter, T.3
Sandhoff, K.4
-
31
-
-
0034939951
-
Sphingolipid activator proteins: Proteins with complex functions in lipid degradation and skin biogenesis
-
C.G. Schuette, B. Pierstorff, S. Huettler, K. Sandhoff, Sphingolipid activator proteins: Proteins with complex functions in lipid degradation and skin biogenesis, Glycobiology 11 (2001) 81R-90R.
-
(2001)
Glycobiology
, vol.11
, pp. 81R-90R
-
-
Schuette, C.G.1
Pierstorff, B.2
Huettler, S.3
Sandhoff, K.4
-
32
-
-
0035694386
-
Sonic hedgehog-dependent emergence of oligodendrocytes in the telencephalon: Evidence for a source of oligodendrocytes on the olfactory bulb that is independent of PDGFRα signalling
-
N. Spassky, K. Heydon, A. Mangatal, A. Jankovski, C. Olivier, F. Queraud-Lesaux, C. Goujet-Zalc, J.L. Thomas, B. Zalc, Sonic hedgehog-dependent emergence of oligodendrocytes in the telencephalon: Evidence for a source of oligodendrocytes on the olfactory bulb that is independent of PDGFRα signalling, Development 128 (2001) 4993-5004.
-
(2001)
Development
, vol.128
, pp. 4993-5004
-
-
Spassky, N.1
Heydon, K.2
Mangatal, A.3
Jankovski, A.4
Olivier, C.5
Queraud-Lesaux, F.6
Goujet-Zalc, C.7
Thomas, J.L.8
Zalc, B.9
-
33
-
-
0030460131
-
Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele
-
A. Tylki-Szymanska, J. Berger, B. Loschl, A. Lugowska, B. Molzer, Late juvenile metachromatic leukodystrophy (MLD) in three patients with a similar clinical course and identical mutation on one allele, Clin. Genet. 50 (1996) 287-292.
-
(1996)
Clin. Genet.
, vol.50
, pp. 287-292
-
-
Tylki-Szymanska, A.1
Berger, J.2
Loschl, B.3
Lugowska, A.4
Molzer, B.5
-
34
-
-
0001790128
-
Myelination and retarded myelination
-
Springer-Verlag, Berlin
-
M.S. Van der Knaap, J. Valk. Myelination and retarded myelination, in: Magnetic Resonance of Myelin, Myelination and Myelin Disorders, Springer-Verlag, Berlin, 1995, p.p. 31-57.
-
(1995)
Magnetic Resonance of Myelin, Myelination and Myelin Disorders
, pp. 31-57
-
-
Van der Knaap, M.S.1
Valk, J.2
-
35
-
-
0029149615
-
Cortical maldevelopment, antipsychotic drugs and schizophrenia: A search for common ground
-
D.R. Weinberger, B.K. Lipska, Cortical maldevelopment, antipsychotic drugs and schizophrenia: A search for common ground, Schizophrenia Res. 16 (1995) 87-110.
-
(1995)
Schizophrenia Res.
, vol.16
, pp. 87-110
-
-
Weinberger, D.R.1
Lipska, B.K.2
-
36
-
-
0001590529
-
Screening for lysosomal disorders
-
F.A. Hommes (Ed.), Wiley-Liss, New York
-
D.A. Wenger, C. Williams, Screening for lysosomal disorders. In: F.A. Hommes (Ed.), Techniques in Diagnostic Human Biochemical Genetics. A Laboratory Manual, Wiley-Liss, New York, 1991, pp. 587-617.
-
(1991)
Techniques in Diagnostic Human Biochemical Genetics. A Laboratory Manual
, pp. 587-617
-
-
Wenger, D.A.1
Williams, C.2
-
37
-
-
0001862032
-
The myelinogenic cycles of regional maturation of the brain
-
A. Minkovski (Ed.), Blackwell, Oxford
-
P.I. Yakovlev, A.R. Lecours, The myelinogenic cycles of regional maturation of the brain, in: A. Minkovski (Ed.), Regional Development of the Brain in Early Life, Blackwell, Oxford, 1966, pp. 3-70.
-
(1966)
Regional Development of the Brain in Early Life
, pp. 3-70
-
-
Yakovlev, P.I.1
Lecours, A.R.2
|