-
1
-
-
0026608503
-
Lysosomes peroxisomes and mitochondria: Function and disorder
-
Becker L.E. Lysosomes peroxisomes and mitochondria: Function and disorder. AJNR Am J Neuroradiol 1992, 13:609-620.
-
(1992)
AJNR Am J Neuroradiol
, vol.13
, pp. 609-620
-
-
Becker, L.E.1
-
2
-
-
0026557947
-
Disorders of lysosomes, peroxisomes, and mitochondria
-
Kendall B.E. Disorders of lysosomes, peroxisomes, and mitochondria. AJNR Am J Neuroradiol 1992, 13:621-653.
-
(1992)
AJNR Am J Neuroradiol
, vol.13
, pp. 621-653
-
-
Kendall, B.E.1
-
3
-
-
0026410630
-
Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults
-
van der Knaap M.S., Valk J., de Neeling N., et al. Pattern recognition in magnetic resonance imaging of white matter disorders in children and young adults. Neuroradiology 1991, 33:478-493.
-
(1991)
Neuroradiology
, vol.33
, pp. 478-493
-
-
van der Knaap, M.S.1
Valk, J.2
de Neeling, N.3
-
4
-
-
0036303882
-
Lysosomal disorders
-
Wraith J. Lysosomal disorders. Semin Neonatol 2002, 7:75-83.
-
(2002)
Semin Neonatol
, vol.7
, pp. 75-83
-
-
Wraith, J.1
-
5
-
-
81855167877
-
Lysosomes and lysosomal disorders
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. Lysosomes and lysosomal disorders. Magnetic Resonance of Myelin, Myelination, and Myelin Disorders 2005, 66-73. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelin, Myelination, and Myelin Disorders
, pp. 66-73
-
-
Valk, J.1
van der Knaap, M.S.2
-
6
-
-
33644917677
-
Toxic and metabolic brain disorders
-
Raven Press, New York, A.J. Barkovich (Ed.)
-
Barkovich A.J. Toxic and metabolic brain disorders. Pediatric Neuroimaging 2005, 76-189. Raven Press, New York. (ed 4). A.J. Barkovich (Ed.).
-
(2005)
Pediatric Neuroimaging
, pp. 76-189
-
-
Barkovich, A.J.1
-
7
-
-
0003567951
-
Globoid cell leukodystrophy (Krabbe disease)
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. Globoid cell leukodystrophy (Krabbe disease). Magnetic Resonance of Myelination, and Myelin Disorders 2005, 87-95. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 87-95
-
-
Valk, J.1
van der Knaap, M.S.2
-
8
-
-
0014520157
-
Infantile globoid cell leucodystrophy (Krabbe's disease): A clinical and genetic study of 32 Swedish cases 1953-1967
-
Hagberg B., Kollberg H., Sourander P., et al. Infantile globoid cell leucodystrophy (Krabbe's disease): A clinical and genetic study of 32 Swedish cases 1953-1967. Neuropadiatrie 1969, 1:74-88.
-
(1969)
Neuropadiatrie
, vol.1
, pp. 74-88
-
-
Hagberg, B.1
Kollberg, H.2
Sourander, P.3
-
9
-
-
0030964590
-
Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications
-
Wenger D.A., Rafi M.A., Luzi P. Molecular genetics of Krabbe disease (globoid cell leukodystrophy): Diagnostic and clinical implications. Hum Mutat 1997, 10:268-279.
-
(1997)
Hum Mutat
, vol.10
, pp. 268-279
-
-
Wenger, D.A.1
Rafi, M.A.2
Luzi, P.3
-
10
-
-
0028827824
-
Characterization of the large deletion in the GALC gene found in patients with Krabbe disease
-
Luzi P., Rafi M.A., Wenger D.A. Characterization of the large deletion in the GALC gene found in patients with Krabbe disease. Hum Mol Genet 1995, 4:2335-2338.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2335-2338
-
-
Luzi, P.1
Rafi, M.A.2
Wenger, D.A.3
-
11
-
-
0028279294
-
Globoid cell leukodystrophy: Comparison of neuropathology with magnetic resonance imaging
-
Percy A.K., Odrezin G.T., Knowles P.D., et al. Globoid cell leukodystrophy: Comparison of neuropathology with magnetic resonance imaging. Acta Neuropathol 1994, 88:26-32.
-
(1994)
Acta Neuropathol
, vol.88
, pp. 26-32
-
-
Percy, A.K.1
Odrezin, G.T.2
Knowles, P.D.3
-
12
-
-
0036020704
-
Immunohistological study of globoid cell leukodystrophy
-
Aug
-
Itoh M., Hayashi M., Fujioka Y., et al. Immunohistological study of globoid cell leukodystrophy. Brain Dev 2002, 24:284-290. Aug.
-
(2002)
Brain Dev
, vol.24
, pp. 284-290
-
-
Itoh, M.1
Hayashi, M.2
Fujioka, Y.3
-
13
-
-
0027172520
-
Infantile Krabbe disease: Complementary CT and MR findings
-
Choi S., Enzmann D.R. Infantile Krabbe disease: Complementary CT and MR findings. AJNR Am J Neuroradiol 1993, 14:1164-1166.
-
(1993)
AJNR Am J Neuroradiol
, vol.14
, pp. 1164-1166
-
-
Choi, S.1
Enzmann, D.R.2
-
14
-
-
0025200739
-
MR findings in globoid cell leukodystrophy
-
Demaerel P., Wilms G., Vendru P., et al. MR findings in globoid cell leukodystrophy. Neuroradiology 1990, 32:520-522.
-
(1990)
Neuroradiology
, vol.32
, pp. 520-522
-
-
Demaerel, P.1
Wilms, G.2
Vendru, P.3
-
15
-
-
0029984498
-
Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease)
-
Barone R., Brühl K., Stoeter P., et al. Clinical and neuroradiological findings in classic infantile and late-onset globoid-cell leukodystrophy (Krabbe disease). Am J Med Genet 1996, 63:209-217.
-
(1996)
Am J Med Genet
, vol.63
, pp. 209-217
-
-
Barone, R.1
Brühl, K.2
Stoeter, P.3
-
16
-
-
0034720867
-
Multiple cranial nerve enhancement in early infantile Krabbe's disease
-
Bernal O., Lenn N. Multiple cranial nerve enhancement in early infantile Krabbe's disease. Neurology 2000, 54:2348-2349.
-
(2000)
Neurology
, vol.54
, pp. 2348-2349
-
-
Bernal, O.1
Lenn, N.2
-
17
-
-
0033832486
-
Imaging and proton MR spectroscopy in adult Krabbe disease
-
Farina L., Bizzi A., Finocchiaro G., et al. Imaging and proton MR spectroscopy in adult Krabbe disease. AJNR Am J Neuroradiol 2000, 21:1478-1482.
-
(2000)
AJNR Am J Neuroradiol
, vol.21
, pp. 1478-1482
-
-
Farina, L.1
Bizzi, A.2
Finocchiaro, G.3
-
18
-
-
64549149141
-
Metachromatic leukodystrophy
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. Metachromatic leukodystrophy. Magnetic Resonance of Myelination, and Myelin Disorders 2005, 74-81. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 74-81
-
-
Valk, J.1
van der Knaap, M.S.2
-
19
-
-
0032838545
-
MRI appearances of metachromatic leukodystrophy
-
Faerber E.N., Melvin J., Smergel E.M. MRI appearances of metachromatic leukodystrophy. Pediatr Radiol 1999, 29:669-672.
-
(1999)
Pediatr Radiol
, vol.29
, pp. 669-672
-
-
Faerber, E.N.1
Melvin, J.2
Smergel, E.M.3
-
20
-
-
0030909848
-
MR of childhood metachromatic leukodystrophy
-
Kim T.S., Kim I.O., Kim W.S., et al. MR of childhood metachromatic leukodystrophy. AJNR Am J Neuroradiol 1997, 18:733-738.
-
(1997)
AJNR Am J Neuroradiol
, vol.18
, pp. 733-738
-
-
Kim, T.S.1
Kim, I.O.2
Kim, W.S.3
-
21
-
-
0036735587
-
Metachromatic leukodystrophy: Diffusion MR imaging findings
-
Sener N. Metachromatic leukodystrophy: Diffusion MR imaging findings. AJNR Am J Neuroradiol 2002, 23:1424-1426.
-
(2002)
AJNR Am J Neuroradiol
, vol.23
, pp. 1424-1426
-
-
Sener, N.1
-
22
-
-
70350570771
-
GM1 gangliosidosis
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. GM1 gangliosidosis. Magnetic Resonance of Myelination, and Myelin Disorders 2005, 96-102. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 96-102
-
-
Valk, J.1
van der Knaap, M.S.2
-
23
-
-
0032470826
-
Neuroimaging findings in late infantile GM1 gangliosidosis
-
Chen C.Y., Zimmerman R.A., Lee C.C., et al. Neuroimaging findings in late infantile GM1 gangliosidosis. AJNR Am J Neuroradiol 1998, 19:1628-1630.
-
(1998)
AJNR Am J Neuroradiol
, vol.19
, pp. 1628-1630
-
-
Chen, C.Y.1
Zimmerman, R.A.2
Lee, C.C.3
-
24
-
-
33749151183
-
Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: Possible common origin for the prevalent R59H mutation among gypsies
-
Santamaria R., Chabás A., Coll M.J., et al. Twenty-one novel mutations in the GLB1 gene identified in a large group of GM1-gangliosidosis and Morquio B patients: Possible common origin for the prevalent R59H mutation among gypsies. Hum Mutat 2006, 27:1060.
-
(2006)
Hum Mutat
, vol.27
, pp. 1060
-
-
Santamaria, R.1
Chabás, A.2
Coll, M.J.3
-
25
-
-
70350570771
-
GM2 gangliosidosis
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. GM2 gangliosidosis. Magnetic Resonance of Myelination, and Myelin Disorders 2005, 103-111. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 103-111
-
-
Valk, J.1
van der Knaap, M.S.2
-
26
-
-
0037093476
-
Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling
-
Myerowitz R., Lawson D., Mizukami H., et al. Molecular pathophysiology in Tay-Sachs and Sandhoff diseases as revealed by gene expression profiling. Hum Mol Genet 2002, 15:1343-1350.
-
(2002)
Hum Mol Genet
, vol.15
, pp. 1343-1350
-
-
Myerowitz, R.1
Lawson, D.2
Mizukami, H.3
-
29
-
-
81855205547
-
Fabry disease
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. Fabry disease. Magnetic Resonance of Myelination, and Myelin Disorders 2005, 112-118. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 112-118
-
-
Valk, J.1
van der Knaap, M.S.2
-
30
-
-
0029891216
-
Cerebrovascular complications of Fabry's disease
-
Mitsias P., Levine S.R. Cerebrovascular complications of Fabry's disease. Ann Neurol 1996, 40:8-17.
-
(1996)
Ann Neurol
, vol.40
, pp. 8-17
-
-
Mitsias, P.1
Levine, S.R.2
-
31
-
-
0037938617
-
Butman increased signal intensity in the pulvinar on T1-weighted images: A pathognomonic MR imaging sign of Fabry disease
-
Moore D.F., Ye F., Schiffmann R., et al. Butman increased signal intensity in the pulvinar on T1-weighted images: A pathognomonic MR imaging sign of Fabry disease. AJNR Am J Neuroradiol 2003, 24:1096-1101.
-
(2003)
AJNR Am J Neuroradiol
, vol.24
, pp. 1096-1101
-
-
Moore, D.F.1
Ye, F.2
Schiffmann, R.3
-
32
-
-
0000869162
-
The mucopolysaccharidoses
-
McGraw-Hill, New York, C. Scriver, A. Beudet, W. Sly (Eds.)
-
Neufeld E., Musner J. The mucopolysaccharidoses. The Metabolic and Molecular Bases on Inherited Disease 2001, 3421-3452. McGraw-Hill, New York. (ed 8). C. Scriver, A. Beudet, W. Sly (Eds.).
-
(2001)
The Metabolic and Molecular Bases on Inherited Disease
, pp. 3421-3452
-
-
Neufeld, E.1
Musner, J.2
-
33
-
-
81855205547
-
Mucopolysaccharidoses
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. Mucopolysaccharidoses. Magnetic Resonance of Myelination, and Myelin Disorders 2005, 112-118. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 112-118
-
-
Valk, J.1
van der Knaap, M.S.2
-
34
-
-
0037196873
-
White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: Characterization by MRI
-
Barone R., Parano E., Trifiletti R.R., et al. White matter changes mimicking a leukodystrophy in a patient with mucopolysaccharidosis: Characterization by MRI. J Neurol Sci 2002, 195:171-175.
-
(2002)
J Neurol Sci
, vol.195
, pp. 171-175
-
-
Barone, R.1
Parano, E.2
Trifiletti, R.R.3
-
35
-
-
0024792356
-
MR imaging of the brain in patients with mucopolysaccharidosis
-
Murata R., Nakajima S., Tanaka A., et al. MR imaging of the brain in patients with mucopolysaccharidosis. AJNR Am J Neuroradiol 1989, 10:1165-1170.
-
(1989)
AJNR Am J Neuroradiol
, vol.10
, pp. 1165-1170
-
-
Murata, R.1
Nakajima, S.2
Tanaka, A.3
-
36
-
-
22644441772
-
Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II)
-
Parsons V.J., Hughes D.G., Wraith J.E. Magnetic resonance imaging of the brain, neck and cervical spine in mild Hunter's syndrome (mucopolysaccharidoses type II). Clin Radiol 1996, 51:719-723.
-
(1996)
Clin Radiol
, vol.51
, pp. 719-723
-
-
Parsons, V.J.1
Hughes, D.G.2
Wraith, J.E.3
-
37
-
-
0030961333
-
MRI of the brain and craniocervical junction in Morquio's disease
-
Hughes D.G., Chadderton R.D., Cowie R.A., et al. MRI of the brain and craniocervical junction in Morquio's disease. Neuroradiology 1997, 39:381-385.
-
(1997)
Neuroradiology
, vol.39
, pp. 381-385
-
-
Hughes, D.G.1
Chadderton, R.D.2
Cowie, R.A.3
-
38
-
-
0023619468
-
Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses
-
Kulkarni M.V., Williams J.C., Yeakley J.W., et al. Magnetic resonance imaging in the diagnosis of the cranio-cervical manifestations of the mucopolysaccharidoses. Magn Reson Imaging 1987, 5:317-323.
-
(1987)
Magn Reson Imaging
, vol.5
, pp. 317-323
-
-
Kulkarni, M.V.1
Williams, J.C.2
Yeakley, J.W.3
-
39
-
-
0002839188
-
Ceroid neuronal lipofuscinoses
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. Ceroid neuronal lipofuscinoses. Magnetic Resonance of Myelination, and Myelin Disorders 2005, 137-146. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 137-146
-
-
Valk, J.1
van der Knaap, M.S.2
-
40
-
-
0029075391
-
Classification of the neuronal ceroidlipofuscinoses: Expansion of the atypical form
-
Dyken P., Wisniewski K. Classification of the neuronal ceroidlipofuscinoses: Expansion of the atypical form. Am J Med Genet 1995, 57:150-154.
-
(1995)
Am J Med Genet
, vol.57
, pp. 150-154
-
-
Dyken, P.1
Wisniewski, K.2
-
41
-
-
0026511672
-
Neurology of the neuronal ceroid-lipofuscinoses: Late infantile and juvenile types
-
Boustany R.-M. Neurology of the neuronal ceroid-lipofuscinoses: Late infantile and juvenile types. Am J Med Genet 1992, 42:533-535.
-
(1992)
Am J Med Genet
, vol.42
, pp. 533-535
-
-
Boustany, R.-M.1
-
42
-
-
0029947923
-
MRI of neuronal ceroid-lipofuscinoses, I: Cranial MRI of 30 patients with juvenile neuronal ceroid-lipofuscinoses
-
Autti T., Raininko R., Vanhanen S.L., et al.: MRI of neuronal ceroid-lipofuscinoses, I: Cranial MRI of 30 patients with juvenile neuronal ceroid-lipofuscinoses. Neuroradiology 1991, 38:476-482.
-
(1991)
Neuroradiology
, vol.38
, pp. 476-482
-
-
Autti, T.1
Raininko, R.2
Vanhanen, S.L.3
-
43
-
-
0028606373
-
Positron emission tomography in neuronal ceroid lipofuscinosis (JanskyBielschowsky disease): A case report
-
Iannetti P., Messa C., Spalice A. Positron emission tomography in neuronal ceroid lipofuscinosis (JanskyBielschowsky disease): A case report. Brain Dev 1994, 16:459-462.
-
(1994)
Brain Dev
, vol.16
, pp. 459-462
-
-
Iannetti, P.1
Messa, C.2
Spalice, A.3
-
44
-
-
81855163972
-
Peroxisomes and Peroxisomal disorders
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. Peroxisomes and Peroxisomal disorders. Magnetic Resonance of Myelination, and Myelin Disorders 2005, 151-153. Springer-Verlag, Berlin, Germany. (ed 3). J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 151-153
-
-
Valk, J.1
van der Knaap, M.S.2
-
45
-
-
0031544655
-
Genotype-phenotype correlations in peroxisomal disorders
-
Moser H. Genotype-phenotype correlations in peroxisomal disorders. Dev Brain Dysfunction 1997, 10:282-292.
-
(1997)
Dev Brain Dysfunction
, vol.10
, pp. 282-292
-
-
Moser, H.1
-
46
-
-
0031963520
-
Peroxisomal disorders: Genotype, phenotype, major neuropathologic lesions, and pathogenesis
-
Powers J.M., Moser H.W. Peroxisomal disorders: Genotype, phenotype, major neuropathologic lesions, and pathogenesis. Brain Pathol 1998, 8:101-120.
-
(1998)
Brain Pathol
, vol.8
, pp. 101-120
-
-
Powers, J.M.1
Moser, H.W.2
-
47
-
-
0029608957
-
Neuropathology of peroxisomal diseases
-
Martin J.J. Neuropathology of peroxisomal diseases. J Inherit Metab Dis 1995, 18(suppl 1):19-33.
-
(1995)
J Inherit Metab Dis
, vol.18
, Issue.SUPPL. 1
, pp. 19-33
-
-
Martin, J.J.1
-
48
-
-
0026069105
-
The MR spectrum of peroxisomal disorders
-
van der Knaap M.S., Valk J. The MR spectrum of peroxisomal disorders. Neuroradiology 1991, 33:30-37.
-
(1991)
Neuroradiology
, vol.33
, pp. 30-37
-
-
van der Knaap, M.S.1
Valk, J.2
-
50
-
-
0032231427
-
MR in a patient with Zellweger syndrome presenting without cortical or myelination abnormalities
-
Stone J.A., Castillo M. MR in a patient with Zellweger syndrome presenting without cortical or myelination abnormalities. AJNR Am J Neuroradiol 1998, 19:1378-1379.
-
(1998)
AJNR Am J Neuroradiol
, vol.19
, pp. 1378-1379
-
-
Stone, J.A.1
Castillo, M.2
-
53
-
-
0033916525
-
Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency)
-
Sztriha L., Al-Gazali L.I., Wanders R.J., et al. Abnormal myelin formation in rhizomelic chondrodysplasia punctata type 2 (DHAPAT-deficiency). Dev Med Child Neurol 2000, 42:492-495.
-
(2000)
Dev Med Child Neurol
, vol.42
, pp. 492-495
-
-
Sztriha, L.1
Al-Gazali, L.I.2
Wanders, R.J.3
-
54
-
-
0025967864
-
Cranial MR imaging in rhizomelic chondrodysplasia punctata
-
Williams D.W., Elster A.D., Cox T.D. Cranial MR imaging in rhizomelic chondrodysplasia punctata. AJNR Am J Neuroradiol 1991, 12:363-365.
-
(1991)
AJNR Am J Neuroradiol
, vol.12
, pp. 363-365
-
-
Williams, D.W.1
Elster, A.D.2
Cox, T.D.3
-
55
-
-
0030860131
-
Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy
-
Moser H.W. Adrenoleukodystrophy: Phenotype, genetics, pathogenesis and therapy. Brain 1997, 120:1485-1508.
-
(1997)
Brain
, vol.120
, pp. 1485-1508
-
-
Moser, H.W.1
-
56
-
-
0024444218
-
MR of adrenoleukodystrophy: Histopathologic correlations
-
Van der Knaap M.S., Valk J. MR of adrenoleukodystrophy: Histopathologic correlations. AJNR Am J Neuroradiol 1989, 10:S12-S14.
-
(1989)
AJNR Am J Neuroradiol
, vol.10
-
-
Van der Knaap, M.S.1
Valk, J.2
-
57
-
-
0034102168
-
X-linked adrenoleukodystrophy: The role of contrast-enhanced MR imaging in predicting disease progression
-
Melhem E.R., Loes D.J., Georgiades C.S., et al. X-linked adrenoleukodystrophy: The role of contrast-enhanced MR imaging in predicting disease progression. AJNR Am J Neuroradiol 2000, 21:839-844.
-
(2000)
AJNR Am J Neuroradiol
, vol.21
, pp. 839-844
-
-
Melhem, E.R.1
Loes, D.J.2
Georgiades, C.S.3
-
58
-
-
33750319865
-
Childhood white matter disorders: Quantitative MR imaging and spectroscopy
-
Van der Voorn J.P., Pouwels P.J., Hart A.A., et al. Childhood white matter disorders: Quantitative MR imaging and spectroscopy. Radiology 2006, 241:510-517.
-
(2006)
Radiology
, vol.241
, pp. 510-517
-
-
Van der Voorn, J.P.1
Pouwels, P.J.2
Hart, A.A.3
-
59
-
-
0028820648
-
Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy
-
Confort-Gouny S., Vion-Dury J., Chabrol B., et al. Localised proton magnetic resonance spectroscopy in X-linked adrenoleukodystrophy. Neuroradiology 1995, 37:568-575.
-
(1995)
Neuroradiology
, vol.37
, pp. 568-575
-
-
Confort-Gouny, S.1
Vion-Dury, J.2
Chabrol, B.3
-
60
-
-
79952793241
-
Correlating quantitative MR imaging with histopathology in X-linked adrenoleukodystrophy
-
van der Voorn J.P., Pouwels P.J.W., Powers J.M., et al. Correlating quantitative MR imaging with histopathology in X-linked adrenoleukodystrophy. AJNR Am J Neuroradiol 2011, 32:481-489.
-
(2011)
AJNR Am J Neuroradiol
, vol.32
, pp. 481-489
-
-
van der Voorn, J.P.1
Pouwels, P.J.W.2
Powers, J.M.3
-
61
-
-
0031032029
-
Involvement of the pontomedullary corticospinal tracts: A useful finding in the diagnosis of X-linked adrenoleukodystrophy
-
Barkovich A.J., Ferriero D.M., Bass N., et al. Involvement of the pontomedullary corticospinal tracts: A useful finding in the diagnosis of X-linked adrenoleukodystrophy. AJNR Am J Neuroradiol 1997, 18:95-100.
-
(1997)
AJNR Am J Neuroradiol
, vol.18
, pp. 95-100
-
-
Barkovich, A.J.1
Ferriero, D.M.2
Bass, N.3
-
62
-
-
0028083220
-
Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy
-
Fournier B., Saudubray J.M., Benichou B., et al. Large deletion of the peroxisomal acyl-CoA oxidase gene in pseudoneonatal adrenoleukodystrophy. J Clin Invest 1994, 94:526-531.
-
(1994)
J Clin Invest
, vol.94
, pp. 526-531
-
-
Fournier, B.1
Saudubray, J.M.2
Benichou, B.3
-
63
-
-
0023878166
-
A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy)
-
Poll T., Roels F., Ogier H., et al. A new peroxisomal disorder with enlarged peroxisomes and a specific deficiency of acyl-CoA oxidase (pseudo-neonatal adrenoleukodystrophy). Am J Hum Genet 1988, 42:422-434.
-
(1988)
Am J Hum Genet
, vol.42
, pp. 422-434
-
-
Poll, T.1
Roels, F.2
Ogier, H.3
-
64
-
-
81855167876
-
Peroxisomal acyl-CoA oxidase deficiency
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. Peroxisomal acyl-CoA oxidase deficiency. Magnetic Resonance of Myelination, and Myelin Disorders 2005, 172-175. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 172-175
-
-
Valk, J.1
van der Knaap, M.S.2
-
65
-
-
0025807180
-
Mitochondrial encephalopathies in childhood: I-Biochemical and morphologic investigation
-
Tulinius M.H., Holme E., Kristiansson B., et al. Mitochondrial encephalopathies in childhood: I-Biochemical and morphologic investigation. J Pediatr 1991, 119:242-250.
-
(1991)
J Pediatr
, vol.119
, pp. 242-250
-
-
Tulinius, M.H.1
Holme, E.2
Kristiansson, B.3
-
66
-
-
81855163969
-
Mitochondria and mitochondrial disorders
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. Mitochondria and mitochondrial disorders. Magnetic Resonance of Myelination, and Myelin Disorders 2005, 195-203. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 195-203
-
-
Valk, J.1
van der Knaap, M.S.2
-
67
-
-
0023883150
-
Deletions of muscle mitochondria DNA in patients with mitochondrial myopathies
-
Holt I., Harding A., Morgan-Hughes J. Deletions of muscle mitochondria DNA in patients with mitochondrial myopathies. Nature 1988, 331:717-719.
-
(1988)
Nature
, vol.331
, pp. 717-719
-
-
Holt, I.1
Harding, A.2
Morgan-Hughes, J.3
-
68
-
-
0027525492
-
Mitochondrial encephalomyopathies: A review
-
DiMauro S., Moraes C.T. Mitochondrial encephalomyopathies: A review. Arch Neurol 1993, 50:1197-1208.
-
(1993)
Arch Neurol
, vol.50
, pp. 1197-1208
-
-
DiMauro, S.1
Moraes, C.T.2
-
69
-
-
0026680299
-
Clinical aspects of mitochondrial disorders
-
Munnich A., Rustin P., Rötig A., et al. Clinical aspects of mitochondrial disorders. J Inherit Metab Dis 1992, 15:448-455.
-
(1992)
J Inherit Metab Dis
, vol.15
, pp. 448-455
-
-
Munnich, A.1
Rustin, P.2
Rötig, A.3
-
70
-
-
0029985716
-
Leigh syndrome: Clinical features and biochemical and DNA abnormalities
-
Rahman S., Blok R.B., Dahl H.H., et al. Leigh syndrome: Clinical features and biochemical and DNA abnormalities. Ann Neurol 1996, 39:343-351.
-
(1996)
Ann Neurol
, vol.39
, pp. 343-351
-
-
Rahman, S.1
Blok, R.B.2
Dahl, H.H.3
-
71
-
-
0027228506
-
Mitochondrial disorders: Analysis of their clinical and imaging characteristics
-
Barkovich A.J., Good W.V., Koch T.K., et al. Mitochondrial disorders: Analysis of their clinical and imaging characteristics. AJNR Am J Neuroradiol 1993, 14:1119-1137.
-
(1993)
AJNR Am J Neuroradiol
, vol.14
, pp. 1119-1137
-
-
Barkovich, A.J.1
Good, W.V.2
Koch, T.K.3
-
72
-
-
0025228482
-
MR findings in patients with subacute necrotizing encephalomyelopathy (LS)
-
Medina L., Chi T.L., DeVivo D.C., et al. MR findings in patients with subacute necrotizing encephalomyelopathy (LS). AJNR Am J Neuroradiol 1990, 11:379-384.
-
(1990)
AJNR Am J Neuroradiol
, vol.11
, pp. 379-384
-
-
Medina, L.1
Chi, T.L.2
DeVivo, D.C.3
-
73
-
-
0032471372
-
Neuroradiologic findings in children with mitochondrial disorders
-
Valanne L., Ketonen L., Majander A., et al. Neuroradiologic findings in children with mitochondrial disorders. AJNR Am J Neuroradiol 1998, 19:369-377.
-
(1998)
AJNR Am J Neuroradiol
, vol.19
, pp. 369-377
-
-
Valanne, L.1
Ketonen, L.2
Majander, A.3
-
74
-
-
0023429777
-
Cytochrome c oxidase deficiency in Leigh syndrome
-
DiMauro S., Servidei S., Zeviani M., et al. Cytochrome c oxidase deficiency in Leigh syndrome. Ann Neurol 1987, 22:498-506.
-
(1987)
Ann Neurol
, vol.22
, pp. 498-506
-
-
DiMauro, S.1
Servidei, S.2
Zeviani, M.3
-
75
-
-
0038275810
-
Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings
-
Rossi A., Biancheri R., Claudio B., et al. Leigh syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings. AJNR Am J Neuroradiol 2003, 24:1188-1191.
-
(2003)
AJNR Am J Neuroradiol
, vol.24
, pp. 1188-1191
-
-
Rossi, A.1
Biancheri, R.2
Claudio, B.3
-
76
-
-
0003567951
-
Mitochondrial encephalopathy with lactic acidosis, and stroke-like episodes
-
Springer-Verlag, Berlin, Germany, J. Valk, M.S. van der Knaap (Eds.)
-
Valk J., van der Knaap M.S. Mitochondrial encephalopathy with lactic acidosis, and stroke-like episodes. Magnetic Resonance of Myelination, and Myelin Disorders 2005, 204-211. Springer-Verlag, Berlin, Germany. J. Valk, M.S. van der Knaap (Eds.).
-
(2005)
Magnetic Resonance of Myelination, and Myelin Disorders
, pp. 204-211
-
-
Valk, J.1
van der Knaap, M.S.2
-
77
-
-
0031874059
-
Neuroradiological features of six kindreds with MELAS tRNA(Leu) A3243G point mutation: Implications for pathogenesis
-
Sue C.M., Crimmins D.S., Soo Y.S., et al. Neuroradiological features of six kindreds with MELAS tRNA(Leu) A3243G point mutation: Implications for pathogenesis. J Neurol Neurosurg, Psychiatry 1998, 65:233-240.
-
(1998)
J Neurol Neurosurg, Psychiatry
, vol.65
, pp. 233-240
-
-
Sue, C.M.1
Crimmins, D.S.2
Soo, Y.S.3
-
78
-
-
0036097810
-
Mitochondrial encephalomyopathy: Comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging-Case report
-
Majoie C.B., Akkerman E.M., Blank C., et al. Mitochondrial encephalomyopathy: Comparison of conventional MR imaging with diffusion-weighted and diffusion tensor imaging-Case report. AJNR Am J Neuroradiol 2002, 23:813-816.
-
(2002)
AJNR Am J Neuroradiol
, vol.23
, pp. 813-816
-
-
Majoie, C.B.1
Akkerman, E.M.2
Blank, C.3
-
79
-
-
0024343409
-
Vascular involvement in mitochondrial myopathy
-
Sakuta R., Nonaka I. Vascular involvement in mitochondrial myopathy. Ann Neurol 1989, 25:594-601.
-
(1989)
Ann Neurol
, vol.25
, pp. 594-601
-
-
Sakuta, R.1
Nonaka, I.2
-
80
-
-
79956091500
-
Apparent diffusion coefficients of metabolites in patients with MELAS using diffusion-weighted MR spectroscopy
-
Liu Z., Zheng D., Wang X., et al. Apparent diffusion coefficients of metabolites in patients with MELAS using diffusion-weighted MR spectroscopy. AJNR Am J Neuroradiol 2011, 32:898-902.
-
(2011)
AJNR Am J Neuroradiol
, vol.32
, pp. 898-902
-
-
Liu, Z.1
Zheng, D.2
Wang, X.3
-
81
-
-
0028817051
-
MELAS syndrome: Imaging and proton MR spectroscopic findings
-
Castillo M., Kwock L., Green C. MELAS syndrome: Imaging and proton MR spectroscopic findings. AJNR Am J Neuroradiol 1995, 16:233-239.
-
(1995)
AJNR Am J Neuroradiol
, vol.16
, pp. 233-239
-
-
Castillo, M.1
Kwock, L.2
Green, C.3
-
82
-
-
39649093667
-
Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation
-
Ito S., Shirai W., Asahina M., et al. Clinical and brain MR imaging features focusing on the brain stem and cerebellum in patients with myoclonic epilepsy with ragged-red fibers due to mitochondrial A8344G mutation. AJNR Am J Neuroradiol 2008, 29:392-395.
-
(2008)
AJNR Am J Neuroradiol
, vol.29
, pp. 392-395
-
-
Ito, S.1
Shirai, W.2
Asahina, M.3
-
83
-
-
0028918471
-
Cardiac involvement in mitochondrial diseases: A study on 17 patients with documented mitochondrial DNA defects
-
Anan R., Nakagawa M., Miyata M., et al. Cardiac involvement in mitochondrial diseases: A study on 17 patients with documented mitochondrial DNA defects. Circulation 1995, 91:955-961.
-
(1995)
Circulation
, vol.91
, pp. 955-961
-
-
Anan, R.1
Nakagawa, M.2
Miyata, M.3
-
84
-
-
0033435127
-
MRI of the brain in the KearnsSayre syndrome: Report of four cases and a review
-
Chu B.C., Terae S., Takahashi C., et al. MRI of the brain in the KearnsSayre syndrome: Report of four cases and a review. Neuroradiology 1999, 41:759-764.
-
(1999)
Neuroradiology
, vol.41
, pp. 759-764
-
-
Chu, B.C.1
Terae, S.2
Takahashi, C.3
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