-
1
-
-
0032613157
-
Congenital muscular dystrophies: An update
-
Fukuyama Y. Congenital muscular dystrophies: an update. J Child Neurol 1999; 14:28-30.
-
(1999)
J Child Neurol
, vol.14
, pp. 28-30
-
-
Fukuyama, Y.1
-
2
-
-
0033112073
-
The saga of congenital muscular dystrophy
-
Tomé F. The saga of congenital muscular dystrophy. Neuropediatrics 1999; 30:55-65.
-
(1999)
Neuropediatrics
, vol.30
, pp. 55-65
-
-
Tomé, F.1
-
3
-
-
0037010428
-
Defective glycosylation in muscular dystrophy
-
Muntoni F, Brockington M, Blake DJ, Torelli S, Brown SC. Defective glycosylation in muscular dystrophy. Lancet 2002; 360:1419-1421.
-
(2002)
Lancet
, vol.360
, pp. 1419-1421
-
-
Muntoni, F.1
Brockington, M.2
Blake, D.J.3
Torelli, S.4
Brown, S.C.5
-
4
-
-
0036837628
-
98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001; Naarden, the Netherlands
-
Muntoni F, Bertini E, Bonnemann C, et al. 98th ENMC International Workshop on Congenital Muscular Dystrophy (CMD), 7th Workshop of the International Consortium on CMD, 2nd Workshop of the MYO CLUSTER project GENRE. 26-28th October, 2001; Naarden, the Netherlands. Neuromuscul Disord 2002; 12:889-896.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 889-896
-
-
Muntoni, F.1
Bertini, E.2
Bonnemann, C.3
-
5
-
-
0036132914
-
85th ENMC International Workshop on Congenital Muscular Dystrophy, 6th International CMD Workshop, 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000; Naarden, the Netherlands
-
Muntoni F, Guicheney P. 85th ENMC International Workshop on Congenital Muscular Dystrophy, 6th International CMD Workshop, 1st Workshop of the Myo-Cluster Project 'GENRE'. 27-28th October 2000; Naarden, the Netherlands. Neuromuscul Disord 2002; 12:69-78.
-
(2002)
Neuromuscul Disord
, vol.12
, pp. 69-78
-
-
Muntoni, F.1
Guicheney, P.2
-
6
-
-
0031594947
-
Laminin alpha-2 muscular dystrophy: Genotype/phenotype studies of 22 patients
-
Pegoraro E, Marks H, Garcia CA, et al. Laminin alpha-2 muscular dystrophy: genotype/phenotype studies of 22 patients. Neurology 1998; 51:101-110.
-
(1998)
Neurology
, vol.51
, pp. 101-110
-
-
Pegoraro, E.1
Marks, H.2
Garcia, C.A.3
-
7
-
-
0031762583
-
Congenital muscular dystrophy with merosin deficiency: MR findings in five patients
-
Farina L, Morandi L, Milanesi I, et al. Congenital muscular dystrophy with merosin deficiency: MR findings in five patients. Neuroradiology 1998; 40:807-811.
-
(1998)
Neuroradiology
, vol.40
, pp. 807-811
-
-
Farina, L.1
Morandi, L.2
Milanesi, I.3
-
8
-
-
0036157115
-
Nonmuscular involvement in merosin-negative congenital muscular dystrophy
-
Gilhuis HJ, ten Donkelaar HJ, Tanke RB, et al. Nonmuscular involvement in merosin-negative congenital muscular dystrophy. Pediatr Neurol 2002; 26:30-36.
-
(2002)
Pediatr Neurol
, vol.26
, pp. 30-36
-
-
Gilhuis, H.J.1
Ten Donkelaar, H.J.2
Tanke, R.B.3
-
9
-
-
0031906545
-
Congenital muscular dystrophy: Use of brain MR imaging findings to predict merosin deficiency
-
Lamer S, Carlier RY, Pinard JM, et al. Congenital muscular dystrophy: use of brain MR imaging findings to predict merosin deficiency. Radiology 1998; 206:811-816.
-
(1998)
Radiology
, vol.206
, pp. 811-816
-
-
Lamer, S.1
Carlier, R.Y.2
Pinard, J.M.3
-
11
-
-
0002633858
-
Removal of the water resonance from 1H magnetic resonance spectra
-
McWhirter JG, ed. Oxford, England: Clarendon
-
van den Boogaart A, van Ormondt D, Pijnappel WWF, de Beer R, Ala-Korpela M. Removal of the water resonance from 1H magnetic resonance spectra. In: McWhirter JG, ed. Mathematics in signal processing III. Oxford, England: Clarendon, 1994; 175-195.
-
(1994)
Mathematics in Signal Processing III
, pp. 175-195
-
-
Van Den Boogaart, A.1
Van Ormondt, D.2
Pijnappel, W.W.F.3
De Beer, R.4
Ala-Korpela, M.5
-
12
-
-
0346308381
-
Improved method for accurate and efficient quantification of MRS data with use of prior knowledge
-
Vanhamme L, van den Boogaart A, van Huffel S. Improved method for accurate and efficient quantification of MRS data with use of prior knowledge. J Magn Reson 1997; 129:35-43.
-
(1997)
J Magn Reson
, vol.129
, pp. 35-43
-
-
Vanhamme, L.1
Van Den Boogaart, A.2
Van Huffel, S.3
-
14
-
-
33646376290
-
Spin diffusion measurements: Spin-echoes in the presence of a time-dependent field gradient
-
Stejskal EO, Tanner JE. Spin diffusion measurements: spin-echoes in the presence of a time-dependent field gradient. J Chem Phys 1965; 42:288-292.
-
(1965)
J Chem Phys
, vol.42
, pp. 288-292
-
-
Stejskal, E.O.1
Tanner, J.E.2
-
15
-
-
0031669946
-
Calculation of apparent diffusion coefficients (ADCs) in brain using two-point and six-point methods
-
Burdette JH, Elster AD, Ricci PE. Calculation of apparent diffusion coefficients (ADCs) in brain using two-point and six-point methods. J Comput Assist Tomogr 1998; 22:792-794.
-
(1998)
J Comput Assist Tomogr
, vol.22
, pp. 792-794
-
-
Burdette, J.H.1
Elster, A.D.2
Ricci, P.E.3
-
16
-
-
0028232215
-
Congenital muscular dystrophy with merosin deficiency
-
Tomé FM, Evangelista T, Leclerc A, et al. Congenital muscular dystrophy with merosin deficiency. C R Acad Sci III 1994; 317:351-357.
-
(1994)
C R Acad Sci III
, vol.317
, pp. 351-357
-
-
Tomé, F.M.1
Evangelista, T.2
Leclerc, A.3
-
17
-
-
0033360851
-
MR imaging findings in children with merosin-deficient congenital muscular dystrophy
-
Caro PA, Scavina M, Hoffman E, Pegoraro E, Marks HG. MR imaging findings in children with merosin-deficient congenital muscular dystrophy. AJNR Am J Neuroradiol 1999; 20:324-326.
-
(1999)
AJNR Am J Neuroradiol
, vol.20
, pp. 324-326
-
-
Caro, P.A.1
Scavina, M.2
Hoffman, E.3
Pegoraro, E.4
Marks, H.G.5
-
18
-
-
0030062621
-
Congenital muscular dystrophy with cerebral white matter hypodensity: Correlation of clinical features and merosin deficiency
-
Reed UC, Marie SK, Vainzof M, et al. Congenital muscular dystrophy with cerebral white matter hypodensity: correlation of clinical features and merosin deficiency. Brain Dev 1996; 18:53-58.
-
(1996)
Brain Dev
, vol.18
, pp. 53-58
-
-
Reed, U.C.1
Marie, S.K.2
Vainzof, M.3
-
19
-
-
0030837406
-
Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities
-
van der Knaap MS, Smit LM, Barth PG, et al. Magnetic resonance imaging in classification of congenital muscular dystrophies with brain abnormalities. Ann Neurol 1997; 42:50-59.
-
(1997)
Ann Neurol
, vol.42
, pp. 50-59
-
-
Van Der Knaap, M.S.1
Smit, L.M.2
Barth, P.G.3
-
20
-
-
0032958065
-
Merosin-deficient congenital muscular dystrophy: The spectrum of brain involvement on magnetic resonance imaging
-
Philpot J, Cowan F, Pennock J, et al. Merosin-deficient congenital muscular dystrophy: the spectrum of brain involvement on magnetic resonance imaging. Neuromuscul Disord 1999; 9:81-85.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 81-85
-
-
Philpot, J.1
Cowan, F.2
Pennock, J.3
-
21
-
-
0029806196
-
Congenital muscular dystrophy with laminin alpha 2 chain deficiency: Identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry
-
Herrmann R, Straub V, Meyer K, Kahn T, Wagner M, Voit T. Congenital muscular dystrophy with laminin alpha 2 chain deficiency: identification of a new intermediate phenotype and correlation of clinical findings to muscle immunohistochemistry. Eur J Pediatr 1996; 155:968-976.
-
(1996)
Eur J Pediatr
, vol.155
, pp. 968-976
-
-
Herrmann, R.1
Straub, V.2
Meyer, K.3
Kahn, T.4
Wagner, M.5
Voit, T.6
-
22
-
-
0032231712
-
Neuroimaging manifestations and classification of congenital muscular dystrophies
-
Barkovich AJ. Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR Am J Neuroradiol 1998; 19:1389-1396.
-
(1998)
AJNR Am J Neuroradiol
, vol.19
, pp. 1389-1396
-
-
Barkovich, A.J.1
-
23
-
-
0032904645
-
Merosin-deficiency congenital muscular dystrophy associated with abnormal cerebral cortical gyration: An autopsy study
-
Taratuto AL, Lubieniecki F, Diaz D, et al. Merosin-deficiency congenital muscular dystrophy associated with abnormal cerebral cortical gyration: an autopsy study. Neuromuscul Disord 1999; 9:86-94.
-
(1999)
Neuromuscul Disord
, vol.9
, pp. 86-94
-
-
Taratuto, A.L.1
Lubieniecki, F.2
Diaz, D.3
-
24
-
-
0031659647
-
Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children
-
Tsao CY, Mendell JR, Rusin J, Luquette M. Congenital muscular dystrophy with complete laminin-alpha2-deficiency, cortical dysplasia, and cerebral white-matter changes in children. J Child Neurol 1998; 13:253-256.
-
(1998)
J Child Neurol
, vol.13
, pp. 253-256
-
-
Tsao, C.Y.1
Mendell, J.R.2
Rusin, J.3
Luquette, M.4
-
25
-
-
0029398648
-
Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities
-
Sunada Y, Edgar TS, Lotz BP, Rust RS, Campbell KP. Merosin-negative congenital muscular dystrophy associated with extensive brain abnormalities. Neurology 1995; 45:2084-2089.
-
(1995)
Neurology
, vol.45
, pp. 2084-2089
-
-
Sunada, Y.1
Edgar, T.S.2
Lotz, B.P.3
Rust, R.S.4
Campbell, K.P.5
-
26
-
-
0011816003
-
Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia: Report of three Italian cases in two families
-
Pini A, Merlini L, Tomé FM, Chevallay M, Gobbi G. Merosin-negative congenital muscular dystrophy, occipital epilepsy with periodic spasms and focal cortical dysplasia: report of three Italian cases in two families. Brain Dev 1996; 18:316-322.
-
(1996)
Brain Dev
, vol.18
, pp. 316-322
-
-
Pini, A.1
Merlini, L.2
Tomé, F.M.3
Chevallay, M.4
Gobbi, G.5
-
27
-
-
0025166746
-
In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy
-
Grodd W, Krägeloh-Mann I, Petersen D, Trefz FK, Harzer K. In vivo assessment of N-acetylaspartate in brain in spongy degeneration (Canavan's disease) by proton spectroscopy. Lancet 1990; 336:437-438.
-
(1990)
Lancet
, vol.336
, pp. 437-438
-
-
Grodd, W.1
Krägeloh-Mann, I.2
Petersen, D.3
Trefz, F.K.4
Harzer, K.5
-
28
-
-
0025923837
-
Localized 1H NMR spectroscopy in Canavan disease: A report of two cases
-
Austin SJ, Connelly DA, Gadian DG, Benton JS, Brett EM. Localized 1H NMR spectroscopy in Canavan disease: a report of two cases. Magn Reson Med 1991; 19:439-445.
-
(1991)
Magn Reson Med
, vol.19
, pp. 439-445
-
-
Austin, S.J.1
Connelly, D.A.2
Gadian, D.G.3
Benton, J.S.4
Brett, E.M.5
-
29
-
-
0346665526
-
Cerebral proton spectroscopy in infantile Alexander disease
-
Brockmann K, Dechent P, Meins M, et al. Cerebral proton spectroscopy in infantile Alexander disease. J Neurol 2003; 250:300-306.
-
(2003)
J Neurol
, vol.250
, pp. 300-306
-
-
Brockmann, K.1
Dechent, P.2
Meins, M.3
-
30
-
-
0026094047
-
Metabolic and destructive brain disorders in children: Findings with localized proton MR spectroscopy
-
Grodd W, Krägeloh-Mann I, Klose U, Sauter R. Metabolic and destructive brain disorders in children: findings with localized proton MR spectroscopy. Radiology 1991; 181:173-181.
-
(1991)
Radiology
, vol.181
, pp. 173-181
-
-
Grodd, W.1
Krägeloh-Mann, I.2
Klose, U.3
Sauter, R.4
-
31
-
-
0031783835
-
Proton MR spectroscopy of pediatric brain metabolic disorders
-
Wang ZJ, Zimmerman RA. Proton MR spectroscopy of pediatric brain metabolic disorders. Neuroimaging Clin N Am 1998; 8:781-807.
-
(1998)
Neuroimaging Clin N Am
, vol.8
, pp. 781-807
-
-
Wang, Z.J.1
Zimmerman, R.A.2
-
33
-
-
0030975392
-
A new leukoencephalopathy with vanishing white matter
-
van der Knaap MS, Barth PG, Gabreëls FJ, et al. A new leukoencephalopathy with vanishing white matter. Neurology 1997; 48:845-855.
-
(1997)
Neurology
, vol.48
, pp. 845-855
-
-
Van Der Knaap, M.S.1
Barth, P.G.2
Gabreëls, F.J.3
-
34
-
-
0036115849
-
Leukoencephalopathy with vanishing white matter: Report of four cases from three unrelated Brazilian families
-
Rosemberg S, Leite CC, Arita FN, Kliemann SE, Lacerda MT. Leukoencephalopathy with vanishing white matter: report of four cases from three unrelated Brazilian families. Brain Dev 2002; 24:250-256.
-
(2002)
Brain Dev
, vol.24
, pp. 250-256
-
-
Rosemberg, S.1
Leite, C.C.2
Arita, F.N.3
Kliemann, S.E.4
Lacerda, M.T.5
-
35
-
-
0030897651
-
Proton MR spectroscopy in Pelizaeus-Merzbacher disease
-
Takanashi J, Sugita K, Osaka H, et al. Proton MR spectroscopy in Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol 1997; 18:533-535.
-
(1997)
AJNR Am J Neuroradiol
, vol.18
, pp. 533-535
-
-
Takanashi, J.1
Sugita, K.2
Osaka, H.3
-
36
-
-
0036787352
-
Proton MR spectroscopy and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: Initial experience
-
Eichler FS, Itoh R, Barker PB, et al. Proton MR spectroscopy and diffusion tensor brain MR imaging in X-linked adrenoleukodystrophy: initial experience. Radioiogy 2002; 225:245-252.
-
(2002)
Radioiogy
, vol.225
, pp. 245-252
-
-
Eichler, F.S.1
Itoh, R.2
Barker, P.B.3
-
37
-
-
0041475810
-
Metachromatic leukodystrophy: Diffusion MR imaging and proton MR spectroscopy
-
Sener RN. Metachromatic leukodystrophy: diffusion MR imaging and proton MR spectroscopy. Acta Radiol 2003; 44:440-443.
-
(2003)
Acta Radiol
, vol.44
, pp. 440-443
-
-
Sener, R.N.1
-
40
-
-
0033030521
-
Diffusion imaging in pediatric hypoxic-ischemic injury
-
Phillips MD, Zimmerman RA. Diffusion imaging in pediatric hypoxic-ischemic injury. Neuroimaging Clin N Am 1999; 9:41-52.
-
(1999)
Neuroimaging Clin N Am
, vol.9
, pp. 41-52
-
-
Phillips, M.D.1
Zimmerman, R.A.2
-
41
-
-
0028203354
-
Diffusional anisotrophy of the human brain assessed with diffusion-weighted MR: Relation with normal brain development and aging
-
Nomura Y, Sakuma H, Takeda K, et al. Diffusional anisotrophy of the human brain assessed with diffusion-weighted MR: relation with normal brain development and aging. AJNR Am J Neuroradiol 1994; 15:231-238.
-
(1994)
AJNR Am J Neuroradiol
, vol.15
, pp. 231-238
-
-
Nomura, Y.1
Sakuma, H.2
Takeda, K.3
-
42
-
-
0036153883
-
Diffusion-weighted MR imaging in the brain in children: Findings in the normal brain and in the brain with white matter diseases
-
Engelbrecht V, Scherer A, Rassek M, Witsack HJ, Mödder U. Diffusion-weighted MR imaging in the brain in children: findings in the normal brain and in the brain with white matter diseases. Radiology 2002; 222:410-418.
-
(2002)
Radiology
, vol.222
, pp. 410-418
-
-
Engelbrecht, V.1
Scherer, A.2
Rassek, M.3
Witsack, H.J.4
Mödder, U.5
-
43
-
-
0030948945
-
Diffusion-weighted imaging discriminates between cytotoxic and vasogenic edema in a patient with eclampsia
-
Schaefer PW, Buonnano FS, Gonzalez RG, Schwann LH. Diffusion-weighted imaging discriminates between cytotoxic and vasogenic edema in a patient with eclampsia. Stroke 1997; 28:1082-1085.
-
(1997)
Stroke
, vol.28
, pp. 1082-1085
-
-
Schaefer, P.W.1
Buonnano, F.S.2
Gonzalez, R.G.3
Schwann, L.H.4
-
44
-
-
0030825922
-
Localization of laminin alpha 2 chain in normal human central nervous system: An immunofluorescence and ultrastructural study
-
Berl
-
Villanova M, Malandrini A, Sabatelli P, et al. Localization of laminin alpha 2 chain in normal human central nervous system: an immunofluorescence and ultrastructural study. Acta Neuropathol (Berl) 1997; 94:567-71.
-
(1997)
Acta Neuropathol
, vol.94
, pp. 567-571
-
-
Villanova, M.1
Malandrini, A.2
Sabatelli, P.3
-
45
-
-
0030019062
-
Localization of merosin in the normal human brain: Implications for congenital muscular dystrophy with merosin deficiency
-
Villanova M, Malandrini A, Toti P, et al. Localization of merosin in the normal human brain: implications for congenital muscular dystrophy with merosin deficiency. J Submicrosc Cytol Pathol 1996; 28:1-4.
-
(1996)
J Submicrosc Cytol Pathol
, vol.28
, pp. 1-4
-
-
Villanova, M.1
Malandrini, A.2
Toti, P.3
|