-
1
-
-
0036164091
-
Recycling signaling molecules during development
-
Ahlgren S, Bronner-Fraser M (2002) Recycling signaling molecules during development. Nat Neurosci 5 : 87 88.
-
(2002)
Nat Neurosci
, vol.5
, pp. 87-88
-
-
Ahlgren, S.1
Bronner-Fraser, M.2
-
2
-
-
0035201120
-
Molybdenum cofactor deficiency associated with Dandy-Walker complex
-
Arslanoglu S, Yalaz M, Goksen D et al. (2001) Molybdenum cofactor deficiency associated with Dandy-Walker complex. Brain Dev 23 : 815 818.
-
(2001)
Brain Dev
, vol.23
, pp. 815-818
-
-
Arslanoglu, S.1
Yalaz, M.2
Goksen, D.3
-
3
-
-
0023684795
-
Abnormalities of corpus callosum in patients with inherited metabolic diseases
-
Bamforth F, Bamforth S, Poskitt K, Applegarth D, Hall J (1988) Abnormalities of corpus callosum in patients with inherited metabolic diseases. Lancet 2 : 451.
-
(1988)
Lancet
, vol.2
, pp. 451
-
-
Bamforth, F.1
Bamforth, S.2
Poskitt, K.3
Applegarth, D.4
Hall, J.5
-
4
-
-
0023911401
-
Anomalies of the corpus callosum: Correlation with further anomalies of the brain
-
Barkovich AJ, Norman D (1988) Anomalies of the corpus callosum: Correlation with further anomalies of the brain. AJR Am J Roentgenol 151 : 171 179.
-
(1988)
AJR Am J Roentgenol
, vol.151
, pp. 171-179
-
-
Barkovich, A.J.1
Norman, D.2
-
5
-
-
0034799180
-
Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse)
-
Baumgart E, Vanhorebeek I, Grabenbauer M et al. (2001) Mitochondrial alterations caused by defective peroxisomal biogenesis in a mouse model for Zellweger syndrome (PEX5 knockout mouse). Am J Pathol 159 : 1477 1494.
-
(2001)
Am J Pathol
, vol.159
, pp. 1477-1494
-
-
Baumgart, E.1
Vanhorebeek, I.2
Grabenbauer, M.3
-
7
-
-
1342304437
-
MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome
-
Caruso PA, Poussaint TY, Tzika AA et al. (2004) MRI and 1H MRS findings in Smith-Lemli-Opitz syndrome. Neuroradiology 46 : 3 14.
-
(2004)
Neuroradiology
, vol.46
, pp. 3-14
-
-
Caruso, P.A.1
Poussaint, T.Y.2
Tzika, A.A.3
-
9
-
-
0031044526
-
Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome
-
Dehart DB, Lanoue L, Tint GS, Sulik KK (1997) Pathogenesis of malformations in a rodent model for Smith-Lemli-Opitz syndrome. Am J Med Genet 68 : 328 337.
-
(1997)
Am J Med Genet
, vol.68
, pp. 328-337
-
-
Dehart, D.B.1
Lanoue, L.2
Tint, G.S.3
Sulik, K.K.4
-
10
-
-
0024395161
-
Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia
-
Dobyns WB (1989) Agenesis of the corpus callosum and gyral malformations are frequent manifestations of nonketotic hyperglycinemia. Neurology 39 : 817 820.
-
(1989)
Neurology
, vol.39
, pp. 817-820
-
-
Dobyns, W.B.1
-
11
-
-
0029655911
-
Absence makes the search grow longer
-
Dobyns WB (1996) Absence makes the search grow longer. Am J Hum Genet 58 : 7 16.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 7-16
-
-
Dobyns, W.B.1
-
12
-
-
0028932489
-
Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome
-
Dodge NN, Dobyns WB (1995) Agenesis of the corpus callosum and Dandy-Walker malformation associated with hemimegalencephaly in the sebaceous nevus syndrome. Am J Med Genet 56 : 147 150.
-
(1995)
Am J Med Genet
, vol.56
, pp. 147-150
-
-
Dodge, N.N.1
Dobyns, W.B.2
-
13
-
-
19444371845
-
Peroxisome biogenesis disorders: The role of peroxisomes and metabolic dysfunction in developing brain
-
Faust PL, Banka D, Siriratsivawong R, Ng VG, Wikander TM (2005) Peroxisome biogenesis disorders: The role of peroxisomes and metabolic dysfunction in developing brain. J Inherit Metab Dis 28 : 369 383.
-
(2005)
J Inherit Metab Dis
, vol.28
, pp. 369-383
-
-
Faust, P.L.1
Banka, D.2
Siriratsivawong, R.3
Ng, V.G.4
Wikander, T.M.5
-
14
-
-
16844385303
-
Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort
-
Funk CB, Prasad AN, Frosk P et al. (2005) Neuropathological, biochemical and molecular findings in a glutaric acidemia type 1 cohort. Brain 128 : 711 722.
-
(2005)
Brain
, vol.128
, pp. 711-722
-
-
Funk, C.B.1
Prasad, A.N.2
Frosk, P.3
-
15
-
-
29944446494
-
Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects
-
Garcia-Cazorla A, Rabier D, Touati G et al. (2005) Pyruvate carboxylase deficiency: Metabolic characteristics and new neurological aspects. Ann Neurol 59 : 121 127.
-
(2005)
Ann Neurol
, vol.59
, pp. 121-127
-
-
Garcia-Cazorla, A.1
Rabier, D.2
Touati, G.3
-
16
-
-
1842557804
-
Lipid rafts mediate chemotropic guidance of nerve growth cones
-
Guirland C, Suzuki S, Kojima M, Lu B, Zheng JQ (2004) Lipid rafts mediate chemotropic guidance of nerve growth cones. Neuron 42 : 51 62.
-
(2004)
Neuron
, vol.42
, pp. 51-62
-
-
Guirland, C.1
Suzuki, S.2
Kojima, M.3
Lu, B.4
Zheng, J.Q.5
-
17
-
-
0028609636
-
MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency
-
Higgins JJ, Glasgow AM, Lusk M, Kerr DS (1994) MRI, clinical, and biochemical features of partial pyruvate carboxylase deficiency. J Child Neurol 9 : 436 439.
-
(1994)
J Child Neurol
, vol.9
, pp. 436-439
-
-
Higgins, J.J.1
Glasgow, A.M.2
Lusk, M.3
Kerr, D.S.4
-
18
-
-
0344198005
-
Corpus callosum deficiency in transgenic mice expressing a truncated ephrin-A receptor
-
Hu Z, Yue X, Shi G et al. (2003) Corpus callosum deficiency in transgenic mice expressing a truncated ephrin-A receptor. J Neurosci 23 : 10963 10970.
-
(2003)
J Neurosci
, vol.23
, pp. 10963-10970
-
-
Hu, Z.1
Yue, X.2
Shi, G.3
-
19
-
-
0037817750
-
Signaling at the growth cone: Ligand-receptor complexes and the control of axon growth and guidance
-
Huber AB, Kolodkin AL, Ginty DD, Cloutier JF (2003) Signaling at the growth cone: Ligand-receptor complexes and the control of axon growth and guidance. Annu Rev Neurosci 26 : 509 563.
-
(2003)
Annu Rev Neurosci
, vol.26
, pp. 509-563
-
-
Huber, A.B.1
Kolodkin, A.L.2
Ginty, D.D.3
Cloutier, J.F.4
-
20
-
-
0035976543
-
Hedgehog signaling: A tale of two lipids
-
Ingham PW (2001) Hedgehog signaling: A tale of two lipids. Science 294 : 1879 1881.
-
(2001)
Science
, vol.294
, pp. 1879-1881
-
-
Ingham, P.W.1
-
21
-
-
0027198553
-
Menkes kinky hair disease: Characteristic MR angiographic findings
-
Jacobs DS, Smith AS, Finelli DA, Lanzieri CF, Wiznitzer M (1993) Menkes kinky hair disease: Characteristic MR angiographic findings. AJNR Am J Neuroradiol 14 : 1160 1163.
-
(1993)
AJNR Am J Neuroradiol
, vol.14
, pp. 1160-1163
-
-
Jacobs, D.S.1
Smith, A.S.2
Finelli, D.A.3
Lanzieri, C.F.4
Wiznitzer, M.5
-
22
-
-
0026936396
-
Agenesis of the corpus callosum
-
Jeret JS (1992) Agenesis of the corpus callosum. J Child Neurol 7 : 463 464.
-
(1992)
J Child Neurol
, vol.7
, pp. 463-464
-
-
Jeret, J.S.1
-
23
-
-
0022230252
-
Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography
-
Jeret JS, Serur D, Wisniewski K, Fisch C (1985) Frequency of agenesis of the corpus callosum in the developmentally disabled population as determined by computerized tomography. Pediatr Neurosci 12 : 101 103.
-
(1985)
Pediatr Neurosci
, vol.12
, pp. 101-103
-
-
Jeret, J.S.1
Serur, D.2
Wisniewski, K.3
Fisch, C.4
-
24
-
-
0242302343
-
Injury and plasticity in the developing brain
-
Johnston MV (2003) Injury and plasticity in the developing brain. Exp Neurol 184 (Suppl. 1 S37 S41.
-
(2003)
Exp Neurol
, vol.1841
-
-
Johnston, M.V.1
-
25
-
-
0035235481
-
Sculpting the developing brain
-
Johnston MV, Nishimura A, Harum K, Pekar J, Blue ME (2001) Sculpting the developing brain. Adv Pediatr 48 : 1 38.
-
(2001)
Adv Pediatr
, vol.48
, pp. 1-38
-
-
Johnston, M.V.1
Nishimura, A.2
Harum, K.3
Pekar, J.4
Blue, M.E.5
-
26
-
-
0032231395
-
RSH/Smith-Lemli-Opitz syndrome: Mutations and metabolic morphogenesis
-
Kelley RI (1998) RSH/Smith-Lemli-Opitz syndrome: Mutations and metabolic morphogenesis. Am J Hum Genet 63 : 322 326.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 322-326
-
-
Kelley, R.I.1
-
27
-
-
0036837666
-
Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria
-
Kelley RI, Robinson D, Puffenberger EG, Strauss KA, Morton DH (2002) Amish lethal microcephaly: A new metabolic disorder with severe congenital microcephaly and 2-ketoglutaric aciduria. Am J Med Genet 112 : 318 326.
-
(2002)
Am J Med Genet
, vol.112
, pp. 318-326
-
-
Kelley, R.I.1
Robinson, D.2
Puffenberger, E.G.3
Strauss, K.A.4
Morton, D.H.5
-
28
-
-
0034056402
-
Fumaric aciduria: Clinical and imaging features
-
Kerrigan JF, Aleck KA, Tarby TJ, Bird CR, Heidenreich RA (2000) Fumaric aciduria: Clinical and imaging features. Ann Neurol 47 : 583 588.
-
(2000)
Ann Neurol
, vol.47
, pp. 583-588
-
-
Kerrigan, J.F.1
Aleck, K.A.2
Tarby, T.J.3
Bird, C.R.4
Heidenreich, R.A.5
-
29
-
-
0030801168
-
Intracranial and extracranial MR angiography in Menkes disease
-
Kim OH, Suh JH (1997) Intracranial and extracranial MR angiography in Menkes disease. Pediatr Radiol 27 : 782 784.
-
(1997)
Pediatr Radiol
, vol.27
, pp. 782-784
-
-
Kim, O.H.1
Suh, J.H.2
-
30
-
-
0024689459
-
Agenesis of the corpus callosum: A marker for inherited metabolic disease?
-
Kolodny EH (1989) Agenesis of the corpus callosum: A marker for inherited metabolic disease? Neurology 39 : 847 848.
-
(1989)
Neurology
, vol.39
, pp. 847-848
-
-
Kolodny, E.H.1
-
31
-
-
0036018142
-
Central role of peroxisomes in isoprenoid biosynthesis
-
Kovacs WJ, Olivier LM, Krisans SK (2002) Central role of peroxisomes in isoprenoid biosynthesis. Prog Lipid Res 41 : 369 391.
-
(2002)
Prog Lipid Res
, vol.41
, pp. 369-391
-
-
Kovacs, W.J.1
Olivier, L.M.2
Krisans, S.K.3
-
33
-
-
0029898949
-
Maternal phenylketonuria: Magnetic resonance imaging of the brain in offspring
-
Levy HL, Lobbregt D, Barnes PD, Poussaint TY (1996) Maternal phenylketonuria: Magnetic resonance imaging of the brain in offspring. J Pediatr 128 : 770 775.
-
(1996)
J Pediatr
, vol.128
, pp. 770-775
-
-
Levy, H.L.1
Lobbregt, D.2
Barnes, P.D.3
Poussaint, T.Y.4
-
34
-
-
0029781669
-
Cerebellar hypoplasia in respiratory chain dysfunction
-
Lincke CR, Van Den Bogert C, Nijtmans LG, Wanders RJ, Tamminga P, Barth PG (1996) Cerebellar hypoplasia in respiratory chain dysfunction. Neuropediatrics 27 : 216 218.
-
(1996)
Neuropediatrics
, vol.27
, pp. 216-218
-
-
Lincke, C.R.1
Van Den Bogert, C.2
Nijtmans, L.G.3
Wanders, R.J.4
Tamminga, P.5
Barth, P.G.6
-
35
-
-
33750475923
-
Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia
-
Lindhurst MJ, Fiermonte G, Song S et al. (2006) Knockout of Slc25a19 causes mitochondrial thiamine pyrophosphate depletion, embryonic lethality, CNS malformations, and anemia. Proc Natl Acad Sci USA 103 : 15927 15932.
-
(2006)
Proc Natl Acad Sci USA
, vol.103
, pp. 15927-15932
-
-
Lindhurst, M.J.1
Fiermonte, G.2
Song, S.3
-
37
-
-
0028314608
-
RSH/SLO ('Smith-Lemli-Opitz') syndrome: Historical, genetic, and developmental considerations
-
Opitz JM (1994) RSH/SLO ('Smith-Lemli-Opitz') syndrome: Historical, genetic, and developmental considerations. Am J Med Genet 50 : 344 346.
-
(1994)
Am J Med Genet
, vol.50
, pp. 344-346
-
-
Opitz, J.M.1
-
38
-
-
0018669695
-
Agenesis of the corpus callosum: A study of the frequency of associated malformations
-
Parrish ML, Roessmann U, Levinsohn MW (1979) Agenesis of the corpus callosum: A study of the frequency of associated malformations. Ann Neurol 6 : 349 354.
-
(1979)
Ann Neurol
, vol.6
, pp. 349-354
-
-
Parrish, M.L.1
Roessmann, U.2
Levinsohn, M.W.3
-
39
-
-
0031598505
-
Central nervous system malformations in a perinatal/neonatal autopsy series
-
Pinar H, Tatevosyants N, Singer DB (1998) Central nervous system malformations in a perinatal/neonatal autopsy series. Pediatr Dev Pathol 1 : 42 48.
-
(1998)
Pediatr Dev Pathol
, vol.1
, pp. 42-48
-
-
Pinar, H.1
Tatevosyants, N.2
Singer, D.B.3
-
40
-
-
0345255889
-
Human malformation syndromes due to inborn errors of cholesterol synthesis
-
Porter FD (2003) Human malformation syndromes due to inborn errors of cholesterol synthesis. Curr Opin Pediatr 15 : 607 613.
-
(2003)
Curr Opin Pediatr
, vol.15
, pp. 607-613
-
-
Porter, F.D.1
-
41
-
-
35948981472
-
Cellular bioenergetics and cerebral dysmorphogenesis: Lessons from Amish microcephaly
-
Epub 10.1055/s-2006-945606
-
Prasad A, Rupar C, Prasad C, Mok Siu V (2006) Cellular bioenergetics and cerebral dysmorphogenesis: Lessons from Amish microcephaly. Neuropediatrics 37 Epub 10.1055/s-2006-945606
-
(2006)
Neuropediatrics
, vol.37
-
-
Prasad, A.1
Rupar, C.2
Prasad, C.3
Mok Siu, V.4
-
42
-
-
44949257353
-
Pre-cholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata
-
DOI: 10.2350/06-10
-
Rakheja D, Boriack R (2007) Pre-cholesterol sterols accumulate in lipid rafts of patients with Smith-Lemli-Opitz syndrome and X-linked dominant chondrodysplasia punctata. Pediatr Dev Pathol 1 Epub DOI: 10.2350/06-10-0179
-
(2007)
Pediatr Dev Pathol
, vol.1-179
-
-
Rakheja, D.1
Boriack, R.2
-
43
-
-
0014223464
-
Development of the corpus callosum and cavum septi in man
-
Rakic P, Yakovlev PI (1968) Development of the corpus callosum and cavum septi in man. J Comp Neurol 132 : 45 72.
-
(1968)
J Comp Neurol
, vol.132
, pp. 45-72
-
-
Rakic, P.1
Yakovlev, P.I.2
-
44
-
-
32144434924
-
Imaging, anatomical, and molecular analysis of callosal formation in the developing human fetal brain
-
Ren T, Anderson A, Shen WB et al. (2006) Imaging, anatomical, and molecular analysis of callosal formation in the developing human fetal brain. Anat Rec A Discov Mol Cell Evol Biol 288 : 191 204.
-
(2006)
Anat Rec a Discov Mol Cell Evol Biol
, vol.288
, pp. 191-204
-
-
Ren, T.1
Anderson, A.2
Shen, W.B.3
-
45
-
-
18544382852
-
Mutant deoxynucleotide carrier is associated with congenital microcephaly
-
Rosenberg MJ, Agarwala R, Bouffard G et al. (2002) Mutant deoxynucleotide carrier is associated with congenital microcephaly. Nat Genet 32 : 175 179.
-
(2002)
Nat Genet
, vol.32
, pp. 175-179
-
-
Rosenberg, M.J.1
Agarwala, R.2
Bouffard, G.3
-
46
-
-
0021994715
-
Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor
-
Roth A, Nogues C, Monnet JP, Ogier H, Saudubray JM (1985) Anatomo-pathological findings in a case of combined deficiency of sulphite oxidase and xanthine oxidase with a defect of molybdenum cofactor. Virchows Arch A Pathol Anat Histopathol 405 : 379 386.
-
(1985)
Virchows Arch a Pathol Anat Histopathol
, vol.405
, pp. 379-386
-
-
Roth, A.1
Nogues, C.2
Monnet, J.P.3
Ogier, H.4
Saudubray, J.M.5
-
49
-
-
20544441278
-
Pathology of mitochondrial encephalomyopathies
-
Sarnat HB, Marin-Garcia J (2005) Pathology of mitochondrial encephalomyopathies. Can J Neurol Sci 32 : 152 166.
-
(2005)
Can J Neurol Sci
, vol.32
, pp. 152-166
-
-
Sarnat, H.B.1
Marin-Garcia, J.2
-
50
-
-
24344508639
-
Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects
-
Scaglia F, Wong LJ, Vladutiu GD, Hunter JV (2005) Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects. AJNR Am J Neuroradiol 26 : 1675 1680.
-
(2005)
AJNR Am J Neuroradiol
, vol.26
, pp. 1675-1680
-
-
Scaglia, F.1
Wong, L.J.2
Vladutiu, G.D.3
Hunter, J.V.4
-
51
-
-
1842486041
-
Isolated sulphite oxidase deficiency: Clinical and biochemical features in an Italian patient
-
Schiaffino MC, Fantasia AR, Minniti G, Caruso U, Carnevale F, Cerone R (2004) Isolated sulphite oxidase deficiency: Clinical and biochemical features in an Italian patient. J Inherit Metab Dis 27 : 101 102.
-
(2004)
J Inherit Metab Dis
, vol.27
, pp. 101-102
-
-
Schiaffino, M.C.1
Fantasia, A.R.2
Minniti, G.3
Caruso, U.4
Carnevale, F.5
Cerone, R.6
-
52
-
-
0042706447
-
Nonketotic hyperglycinemia: Diffusion magnetic resonance imaging findings
-
Sener RN (2003) Nonketotic hyperglycinemia: Diffusion magnetic resonance imaging findings. J Comput Assist Tomogr 27 : 538 540.
-
(2003)
J Comput Assist Tomogr
, vol.27
, pp. 538-540
-
-
Sener, R.N.1
-
53
-
-
0036733578
-
Cholesterol, lipid rafts, and disease
-
Simons K, Ehehalt R (2002) Cholesterol, lipid rafts, and disease. J Clin Invest 110 : 597 603.
-
(2002)
J Clin Invest
, vol.110
, pp. 597-603
-
-
Simons, K.1
Ehehalt, R.2
-
54
-
-
0036829585
-
Santiago Ramon y Cajal's concept of neuronal plasticity: The ambiguity lives on
-
Stahnisch FW, Nitsch R (2002) Santiago Ramon y Cajal's concept of neuronal plasticity: The ambiguity lives on. Trends Neurosci 25 : 589 591.
-
(2002)
Trends Neurosci
, vol.25
, pp. 589-591
-
-
Stahnisch, F.W.1
Nitsch, R.2
-
55
-
-
0025345773
-
Developmental abnormalities of the corpus callosum in schizophrenia
-
2nd
-
Swayze VW 2nd, Andreasen NC, Ehrhardt JC, Yuh WT, Alliger RJ, Cohen GA (1990) Developmental abnormalities of the corpus callosum in schizophrenia. Arch Neurol 47 : 805 808.
-
(1990)
Arch Neurol
, vol.47
, pp. 805-808
-
-
Swayze, V.W.1
Andreasen, N.C.2
Ehrhardt, J.C.3
Yuh, W.T.4
Alliger, R.J.5
Cohen, G.A.6
-
58
-
-
23644438523
-
Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption
-
Van Straaten HL, Van Tintelen JP, Trijbels JM et al. (2005) Neonatal lactic acidosis, complex I/IV deficiency, and fetal cerebral disruption. Neuropediatrics 36 : 193 199.
-
(2005)
Neuropediatrics
, vol.36
, pp. 193-199
-
-
Van Straaten, H.L.1
Van Tintelen, J.P.2
Trijbels, J.M.3
-
59
-
-
5644288504
-
A mechanism of sulfite neurotoxicity: Direct inhibition of glutamate dehydrogenase
-
Zhang X, Vincent AS, Halliwell B, Wong KP (2004) A mechanism of sulfite neurotoxicity: Direct inhibition of glutamate dehydrogenase. J Biol Chem 279 : 43035 43045.
-
(2004)
J Biol Chem
, vol.279
, pp. 43035-43045
-
-
Zhang, X.1
Vincent, A.S.2
Halliwell, B.3
Wong, K.P.4
|