-
1
-
-
80052555220
-
Fukutin-related protein alters the deposition of laminin in the eye and brain
-
Ackroyd, M. R., Whitmore, C., Prior, S., Kaluarachchi, M., Nikolic, M., Mayer, U., Muntoni, F., and Brown, S. C. (2011). Fukutin-related protein alters the deposition of laminin in the eye and brain. J. Neurosci. 31, 12927-12935.
-
(2011)
J. Neurosci
, vol.31
, pp. 12927-12935
-
-
Ackroyd, M.R.1
Whitmore, C.2
Prior, S.3
Kaluarachchi, M.4
Nikolic, M.5
Mayer, U.6
Muntoni, F.7
Brown, S.C.8
-
2
-
-
26944470431
-
Neurocutaneous melanosis presenting with hydrocephalus. Case report and review of the literature
-
Acosta, F. L. Jr., Binder, D. K., Barkovich, A. J., Frieden, I. J., and Gupta, N. (2005). Neurocutaneous melanosis presenting with hydrocephalus. Case report and review of the literature. J. Neurosurg. 102(Suppl. 1), 96-100.
-
(2005)
J. Neurosurg.
, vol.102
, Issue.SUPPL. 1
, pp. 96-100
-
-
Acosta Jr., F.L.1
Binder, D.K.2
Barkovich, A.J.3
Frieden, I.J.4
Gupta, N.5
-
3
-
-
0028109366
-
Cerebellar MR in Fukuyama congenital muscular dystrophy: Polymicrogyria with cystic lesions
-
Aida, N., Yagishita, A., Takada, K., and Katsumata, Y. (1994). Cerebellar MR in Fukuyama congenital muscular dystrophy: polymicrogyria with cystic lesions. AJNR. Am. J. Neuroradiol. 15, 1755-1759.
-
(1994)
AJNR. Am. J. Neuroradiol
, vol.15
, pp. 1755-1759
-
-
Aida, N.1
Yagishita, A.2
Takada, K.3
Katsumata, Y.4
-
4
-
-
69349094509
-
FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation
-
Aldinger, K. A., Lehmann, O. J., Hudgins, L., Chizhikov, V. V., Bassuk, A. G., Ades, L. C., Krantz, I. D., Dobyns, W. B., and Millen, K. J. (2009). FOXC1 is required for normal cerebellar development and is a major contributor to chromosome 6p25.3 Dandy-Walker malformation. Nat. Genet. 41, 1037-1042.
-
(2009)
Nat. Genet
, vol.41
, pp. 1037-1042
-
-
Aldinger, K.A.1
Lehmann, O.J.2
Hudgins, L.3
Chizhikov, V.V.4
Bassuk, A.G.5
Ades, L.C.6
Krantz, I.D.7
Dobyns, W.B.8
Millen, K.J.9
-
5
-
-
39549091711
-
The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleo-protein complex
-
Aranda-Orgillés, B., Trockenbacher, A., Winter, J., Aigner, J., Köhler, A., Jastrzebska, E., Stahl, J., Müller, E.-C., Otto, A., Wanker, E., Schneider, R., and Schweiger, S. (2008). The Opitz syndrome gene product MID1 assembles a microtubule-associated ribonucleo-protein complex. Hum. Genet. 123, 163-176.
-
(2008)
Hum. Genet
, vol.123
, pp. 163-176
-
-
Aranda-Orgillés, B.1
Trockenbacher, A.2
Winter, J.3
Aigner, J.4
Köhler, A.5
Jastrzebska, E.6
Stahl, J.7
Müller, E.-C.8
Otto, A.9
Wanker, E.10
Schneider, R.11
Schweiger, S.12
-
6
-
-
34347356500
-
Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome
-
Arts, H. H., Doherty, D., van Beersum, S. E. C., Parisi, M. A., Letteboer, S. J. F., Gorden, N. T., Peters, T. A., Marker, T., Voesenek, K., Kartono, A., Ozyurek, H., Farin, F. M., Kroes, H. Y., Wolfrum, U., Brunner, H. G., Cremers, F. P. M., Glass, I. A., Knoers, N. V., and Roepman, R. (2007). Mutations in the gene encoding the basal body protein RPGRIP1L, a nephrocystin-4 interactor, cause Joubert syndrome. Nat. Genet. 39, 882-888.
-
(2007)
Nat. Genet
, vol.39
, pp. 882-888
-
-
Arts, H.H.1
Doherty, D.2
van Beersum, S.E.C.3
Parisi, M.A.4
Letteboer, S.J.F.5
Gorden, N.T.6
Peters, T.A.7
Marker, T.8
Voesenek, K.9
Kartono, A.10
Ozyurek, H.11
Farin, F.M.12
Kroes, H.Y.13
Wolfrum, U.14
Brunner, H.G.15
Cremers, F.P.M.16
Glass, I.A.17
Knoers, N.V.18
Roepman, R.19
-
7
-
-
33846898823
-
13q Deletion and central nervous system anomalies: Further insights from karyotype-phenotype analyses of14 patients
-
Ballarati, L., Rossi, E., Bonati, M. T., Gimelli, S., Maraschio, P., Finelli, P., Giglio, S., Lapi, E., Bedeschi, M. F., Guerneri, S., Arrigo, G., Patricelli, M. G., Mattina, T., Guzzardi, O., Pecile, V., Police, A., Scarano, G., Larizza, L., Zuffardi, O., and Giardino, D. (2007). 13q Deletion and central nervous system anomalies: further insights from karyotype-phenotype analyses of14 patients. J. Med. Genet. 44:e60.
-
(2007)
J. Med. Genet.
, vol.44
-
-
Ballarati, L.1
Rossi, E.2
Bonati, M.T.3
Gimelli, S.4
Maraschio, P.5
Finelli, P.6
Giglio, S.7
Lapi, E.8
Bedeschi, M.F.9
Guerneri, S.10
Arrigo, G.11
Patricelli, M.G.12
Mattina, T.13
Guzzardi, O.14
Pecile, V.15
Police, A.16
Scarano, G.17
Larizza, L.18
Zuffardi, O.19
Giardino, D.20
more..
-
8
-
-
0032231712
-
Neuroimaging manifestations and classification of congenital muscular dystrophies
-
Barkovich, A. J. (1998). Neuroimaging manifestations and classification of congenital muscular dystrophies. AJNR. Am. J. Neuroradiol. 19, 1389-1396.
-
(1998)
AJNR. Am. J. Neuroradiol
, vol.19
, pp. 1389-1396
-
-
Barkovich, A.J.1
-
9
-
-
0028261131
-
MR of neurocutaneous melanosis
-
Barkovich, A., Frieden, I., and Williams, M. (1994). MR of neurocutaneous melanosis. AJNR. Am. J. Neuroradiol. 15, 859-867.
-
(1994)
AJNR. Am. J. Neuroradiol
, vol.15
, pp. 859-867
-
-
Barkovich, A.1
Frieden, I.2
Williams, M.3
-
10
-
-
84860633072
-
-
Update 2012. Brain (in press)
-
Barkovich, A. J., Guerrini, R., Kuzniecky, R. I., Jackson, G. D., and Dobyns, W. B. (2012). A developmental and genetic classification for malformations of cortical development: Update 2012. Brain (in press).
-
(2012)
A developmental and genetic classification for malformations of cortical development
-
-
Barkovich, A.J.1
Guerrini, R.2
Kuzniecky, R.I.3
Jackson, G.D.4
Dobyns, W.B.5
-
11
-
-
0004289354
-
-
5th edn. (Philadelphia: Lippincott Williams & Wilkins)
-
Barkovich, A. J., and Raybaud, C. A. (2012). Pediatric Neuroimaging, 5th edn. (Philadelphia: Lippincott Williams & Wilkins), 469.
-
(2012)
Pediatric Neuroimaging
, pp. 469
-
-
Barkovich, A.J.1
Raybaud, C.A.2
-
12
-
-
0024428610
-
Revised classification of posterior fossa cysts and cyst-like malformations based on results of multiplanar MR imaging
-
Barkovich, A. J., Kjos, B. O., Norman, D., and Edwards, M. S. B. (1989). Revised classification of posterior fossa cysts and cyst-like malformations based on results of multiplanar MR imaging. AJNR. Am. J. Neuroradiol. 10, 977-988.
-
(1989)
AJNR. Am. J. Neuroradiol
, vol.10
, pp. 977-988
-
-
Barkovich, A.J.1
Kjos, B.O.2
Norman, D.3
Edwards, M.S.B.4
-
13
-
-
37849013276
-
A developmental classification of malformations of the brainstem
-
Barkovich, A. J., Millen, K. J., and Dobyns, W. B. (2007). A developmental classification of malformations of the brainstem. Ann. Neurol. 62, 625-639.
-
(2007)
Ann. Neurol
, vol.62
, pp. 625-639
-
-
Barkovich, A.J.1
Millen, K.J.2
Dobyns, W.B.3
-
14
-
-
72649095193
-
A developmental and genetic classification for midbrain-hindbrain malformations
-
Barkovich, A. J., Millen, K. J., and Dobyns, W. B. (2009). A developmental and genetic classification for midbrain-hindbrain malformations. Brain 132, 3199-3230.
-
(2009)
Brain
, vol.132
, pp. 3199-3230
-
-
Barkovich, A.J.1
Millen, K.J.2
Dobyns, W.B.3
-
15
-
-
34548227899
-
Pontine tegmental cap dysplasia: A novel brain malformation with a defect in axonal guidance
-
Barth, P. G., Majoie, C. B., Caan, M. W. A., Weterman, M. A. J., Kyllerman, M., Smit, L. M. E., Kaplan, R. A., Haas, R. H., Baas, F., Cobben, J.-M., and Poll-The, B. T. (2007). Pontine tegmental cap dysplasia: a novel brain malformation with a defect in axonal guidance. Brain 130, 2258-2266.
-
(2007)
Brain
, vol.130
, pp. 2258-2266
-
-
Barth, P.G.1
Majoie, C.B.2
Caan, M.W.A.3
Weterman, M.A.J.4
Kyllerman, M.5
Smit, L.M.E.6
Kaplan, R.A.7
Haas, R.H.8
Baas, F.9
Cobben, J.-M.10
Poll-The, B.T.11
-
16
-
-
29644445330
-
Midbrain disconnection: An aetiology of severe central neonatal hypotonia
-
Bednarek, N., Scavarda, D., Mesmin, F., Sabouraud, P., Motte, J., and Morville, P. (2005). Midbrain disconnection: an aetiology of severe central neonatal hypotonia. Eur. J. Paediatr. Neurol. 9, 419-422.
-
(2005)
Eur. J. Paediatr. Neurol
, vol.9
, pp. 419-422
-
-
Bednarek, N.1
Scavarda, D.2
Mesmin, F.3
Sabouraud, P.4
Motte, J.5
Morville, P.6
-
17
-
-
0037430909
-
Binding of purified Reelin to ApoER2 and VLDLR mediates tyrosine phosphorylation of Disabled-1
-
Benhayon, D., Magdaleno, S., and Curran, T. (2003). Binding of purified Reelin to ApoER2 and VLDLR mediates tyrosine phosphorylation of Disabled-1. Brain Res. Mol. Brain Res. 112, 33-45.
-
(2003)
Brain Res. Mol. Brain Res
, vol.112
, pp. 33-45
-
-
Benhayon, D.1
Magdaleno, S.2
Curran, T.3
-
18
-
-
0025537369
-
Management of the Dandy-Walker syndrome
-
Bindal, A. K., Storrs, B. B., and Mclone, D. G. (1990-1991). Management of the Dandy-Walker syndrome. Pediatr. Neurosci. 16, 163-169.
-
(1990)
Pediatr. Neurosci.
, vol.16
, pp. 163-169
-
-
Bindal, A.K.1
Storrs, B.B.2
Mclone, D.G.3
-
19
-
-
79955126771
-
Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis
-
Blank, M. C., Grinberg, I., Aryee, E., Laliberte, C., Chizhikov, V. V., Henkelman, R. M., and Millen, K. J. (2011). Multiple developmental programs are altered by loss of Zic1 and Zic4 to cause Dandy-Walker malformation cerebellar pathogenesis. Development 138, 1207-1216.
-
(2011)
Development
, vol.138
, pp. 1207-1216
-
-
Blank, M.C.1
Grinberg, I.2
Aryee, E.3
Laliberte, C.4
Chizhikov, V.V.5
Henkelman, R.M.6
Millen, K.J.7
-
20
-
-
0037425581
-
Reelin activates SRC family tyrosine kinases in neurons
-
Bock, H. H., and Herz, J. (2003). Reelin activates SRC family tyrosine kinases in neurons. Curr. Biol. 13, 18-26.
-
(2003)
Curr. Biol
, vol.13
, pp. 18-26
-
-
Bock, H.H.1
Herz, J.2
-
21
-
-
0038823655
-
Intellectual prognosis of the Dandy-Walker malformation in children: The importance of ver-mian lobulation
-
Boddaert, N., Klein, O., Ferguson, N., Sonigo, P., Parisot, D., Hertz-Pannier, L., Baraton, J., Emond, S., Simon, I., Chigot, V., Schmit, P., Pierre-Kahn, A., and Brunelle, F. (2003). Intellectual prognosis of the Dandy-Walker malformation in children: the importance of ver-mian lobulation. Neuroradiology 45, 320-324.
-
(2003)
Neuroradiology
, vol.45
, pp. 320-324
-
-
Boddaert, N.1
Klein, O.2
Ferguson, N.3
Sonigo, P.4
Parisot, D.5
Hertz-Pannier, L.6
Baraton, J.7
Emond, S.8
Simon, I.9
Chigot, V.10
Schmit, P.11
Pierre-Kahn, A.12
Brunelle, F.13
-
22
-
-
0019421986
-
Joubert syndrome: Clinical and polygraphic observations in a further case
-
Boltshauser, E., Herdon, M., Dumermuth, G., and Isler, W. (1981). Joubert syndrome: clinical and polygraphic observations in a further case. Neuropediatrics 12, 181-191.
-
(1981)
Neuropediatrics
, vol.12
, pp. 181-191
-
-
Boltshauser, E.1
Herdon, M.2
Dumermuth, G.3
Isler, W.4
-
23
-
-
0017577011
-
Joubert syndrome: Episodic hyper-pnea, abnormal eye movements, retardation and ataxia associated with dysplasia of the cerebellar vermis
-
Boltshauser, E., and Isler, W. (1977). Joubert syndrome: episodic hyper-pnea, abnormal eye movements, retardation and ataxia associated with dysplasia of the cerebellar vermis. Neuropadiatrie 8, 57-66.
-
(1977)
Neuropadiatrie
, vol.8
, pp. 57-66
-
-
Boltshauser, E.1
Isler, W.2
-
24
-
-
23944470349
-
Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification
-
Boycott, K. M., Flavelle, S., Bureau, A., Glass, H. C., Fujiwara, T. M., Wirrell, E., Davey, K., Chudley, A. E., Scott, J. N., Mcleod, D. R., Parboosingh, J. S., and Boycott, K. M. (2005). Homozygous deletion of the very low density lipoprotein receptor gene causes autosomal recessive cerebellar hypoplasia with cerebral gyral simplification. Am. J. Hum. Genet. 77, 477-483.
-
(2005)
Am. J. Hum. Genet
, vol.77
, pp. 477-483
-
-
Boycott, K.M.1
Flavelle, S.2
Bureau, A.3
Glass, H.C.4
Fujiwara, T.M.5
Wirrell, E.6
Davey, K.7
Chudley, A.E.8
Scott, J.N.9
Mcleod, D.R.10
Parboosingh, J.S.11
Boycott, K.M.12
-
25
-
-
79959466300
-
Cell-type-specific consequences of reelin deficiency in the mouse neocortex, hippocampus, and amygdala
-
Boyle, M. P., Bernard, A., Thompson, C. L., Ng, L., Boe, A., Mortrud, M., Hawrylycz, M. J., Jones, A. R., Hevner, R. F., and Lein, E. S. (2011). Cell-type-specific consequences of reelin deficiency in the mouse neocortex, hippocampus, and amygdala. J. Comp. Neurol. 519, 2061-2089.
-
(2011)
J. Comp. Neurol
, vol.519
, pp. 2061-2089
-
-
Boyle, M.P.1
Bernard, A.2
Thompson, C.L.3
Ng, L.4
Boe, A.5
Mortrud, M.6
Hawrylycz, M.J.7
Jones, A.R.8
Hevner, R.F.9
Lein, E.S.10
-
26
-
-
0033539094
-
The caudal limit of Otx2 expression positions the isth-mic organizer
-
Broccoli, V., Boncinelli, E., and Wurst, W. (1999). The caudal limit of Otx2 expression positions the isth-mic organizer. Nature 401, 164-168.
-
(1999)
Nature
, vol.401
, pp. 164-168
-
-
Broccoli, V.1
Boncinelli, E.2
Wurst, W.3
-
27
-
-
0037383173
-
Dandy-Walker malformation in an infant with tetra-somy 9p
-
Cazorla Calleja, M. R., Verdu, A., and Felix, V. (2003). Dandy-Walker malformation in an infant with tetra-somy 9p. Brain Dev. 25, 220-223.
-
(2003)
Brain Dev
, vol.25
, pp. 220-223
-
-
Cazorla Calleja, M.R.1
Verdu, A.2
Felix, V.3
-
28
-
-
77957742104
-
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies
-
Chan, Y. M., Keramaris-Vrantsis, E., Lidov, H. G., Norton, J. H., Zinchenko, N., Gruber, H. E. Thresher, R., Blake, D. J., Ashar, J., Rosenfeld, J., and Lu, Q. L. (2010). Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. Hum. Mol. Genet. 19, 3995-4006.
-
(2010)
Hum. Mol. Genet
, vol.19
, pp. 3995-4006
-
-
Chan, Y.M.1
Keramaris-Vrantsis, E.2
Lidov, H.G.3
Norton, J.H.4
Zinchenko, N.5
Gruber H.E.Thresher, R.6
Blake, D.J.7
Ashar, J.8
Rosenfeld, J.9
Lu, Q.L.10
-
29
-
-
0032865035
-
Clinical nosologic and genetic aspects of Joubert and related syndromes
-
Chance, P. F., Cavalier, L., Satran, D., Pellegrino, J. E., Koenig, M., and Dobyns, W. B. (1999). Clinical nosologic and genetic aspects of Joubert and related syndromes. J. Child Neurol. 14, 660-666.
-
(1999)
J. Child Neurol
, vol.14
, pp. 660-666
-
-
Chance, P.F.1
Cavalier, L.2
Satran, D.3
Pellegrino, J.E.4
Koenig, M.5
Dobyns, W.B.6
-
30
-
-
11244294622
-
Association of partial trisomy 9p and the Dandy-Walker malformation
-
Chen, C. P., Chen, C. P., and Shih, J. C. (2005). Association of partial trisomy 9p and the Dandy-Walker malformation. Am. J. Med. Genet. A 132A, 111-112.
-
(2005)
Am. J. Med. Genet. A
, vol.132 A
, pp. 111-112
-
-
Chen, C.P.1
Chen, C.P.2
Shih, J.C.3
-
31
-
-
79954610847
-
Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms
-
Chiang, N.-Y., Hsiao, C.-C., Huang, Y.-S., Chen, H.-Y., Hsieh, I.-J., Chang, G.-W., and Lin, H.-H., (2011). Disease-associated GPR56 mutations cause bilateral frontoparietal polymicrogyria via multiple mechanisms. J. Biol. Chem. 286, 14215-14225.
-
(2011)
J. Biol. Chem
, vol.286
, pp. 14215-14225
-
-
Chiang, N.-Y.1
Hsiao, C.-C.2
Huang, Y.-S.3
Chen, H.-Y.4
Hsieh, I.-J.5
Chang, G.-W.6
Lin, H.-H.7
-
32
-
-
34848902919
-
Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool
-
Chizhikov, V. V., Davenport, J., Zhang, Q., Shih, E. K., Cabello, O. A., Fuchs, J. L., Yoder, B. K., and Millen, K. J. (2007). Cilia proteins control cerebellar morphogenesis by promoting expansion of the granule progenitor pool. J. Neurosci. 27, 9780-9789.
-
(2007)
J. Neurosci
, vol.27
, pp. 9780-9789
-
-
Chizhikov, V.V.1
Davenport, J.2
Zhang, Q.3
Shih, E.K.4
Cabello, O.A.5
Fuchs, J.L.6
Yoder, B.K.7
Millen, K.J.8
-
33
-
-
0142042940
-
Development and malformations of the cerebellum in mice
-
Chizhikov, V., and Millen, K. J. (2003). Development and malformations of the cerebellum in mice. Mol. Genet. Metab. 80, 54-65.
-
(2003)
Mol. Genet. Metab
, vol.80
, pp. 54-65
-
-
Chizhikov, V.1
Millen, K.J.2
-
34
-
-
57749100373
-
Brain involvement in muscular dystrophies with defective dystroglycan glycosylation
-
Clement, E., Mercuri, E., Godfrey, C., Smith, J., Robb, S., Kinali, M., Straub, V., Bushby, K., Manzur, A., Talim, B., Cowan, F., Quinlivan, R., Klein, A., Longman, C., Mcwilliam, R., Topaloglu, H., Mein, R., Abbs, S., North, K., Barkovich, A. J., Rutherford, M., and Muntoni, F. (2008). Brain involvement in muscular dystrophies with defective dystroglycan glycosylation. Ann. Neurol. 64, 573-582.
-
(2008)
Ann. Neurol
, vol.64
, pp. 573-582
-
-
Clement, E.1
Mercuri, E.2
Godfrey, C.3
Smith, J.4
Robb, S.5
Kinali, M.6
Straub, V.7
Bushby, K.8
Manzur, A.9
Talim, B.10
Cowan, F.11
Quinlivan, R.12
Klein, A.13
Longman, C.14
Mcwilliam, R.15
Topaloglu, H.16
Mein, R.17
Abbs, S.18
North, K.19
Barkovich, A.J.20
Rutherford, M.21
Muntoni, F.22
more..
-
35
-
-
33645926675
-
Autism at the beginning: Microstructural and growth abnormalities underlying the cognitive and behavioral phenotype of autism
-
Courchesne, E., Redcay, E., Morgan, J., and Kennedy, D. (2005). Autism at the beginning: microstructural and growth abnormalities underlying the cognitive and behavioral phenotype of autism. Dev. Psychopathol. 17, 577-597.
-
(2005)
Dev. Psychopathol
, vol.17
, pp. 577-597
-
-
Courchesne, E.1
Redcay, E.2
Morgan, J.3
Kennedy, D.4
-
36
-
-
0033213256
-
Reelin is a ligand for lipoprotein receptors
-
Darcangelo, G., Homayouni, R., Keshvara, L., Rice, D. S., Sheldon, M., and Curran, T. (1999). Reelin is a ligand for lipoprotein receptors. Neuron 24, 471-479.
-
(1999)
Neuron
, vol.24
, pp. 471-479
-
-
Darcangelo, G.1
Homayouni, R.2
Keshvara, L.3
Rice, D.S.4
Sheldon, M.5
Curran, T.6
-
37
-
-
0028940096
-
A protein related to extracellular matrix proteins deleted in the mouse mutant reeler
-
Darcangelo, G., Miao, G. G., Chen, S. C., Soares, H. D., Morgan, J. I., and Curran, T. (1995). A protein related to extracellular matrix proteins deleted in the mouse mutant reeler. Nature 374, 719-723.
-
(1995)
Nature
, vol.374
, pp. 719-723
-
-
Darcangelo, G.1
Miao, G.G.2
Chen, S.C.3
Soares, H.D.4
Morgan, J.I.5
Curran, T.6
-
38
-
-
79952192021
-
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum
-
Davis, E. E., Zhang, Q., Liu, Q., Diplas, B. H., Davey, L. M., Hartley, J., Stoetzel, C., Szymanska, K., Ramaswami, G., Logan, C. V., Muzny, D. M., Young, A. C., Wheeler, D. A., Cruz, P., Morgan, M., Lewis, L. R., Cherukuri, P., Maskeri, B., Hansen, N. F., Mullikin, J. C., Blakesley, R. W., Bouffard, G. G., Gyapay, G., Rieger, S., Tonshoff, B., Kern, I., Soliman, N. A., Neuhaus, T. J., Swoboda, K. J., Kayserili, H., Gallagher, T. E., Lewis, R. A., Bergmann, C., Otto, E. A., Saunier, S., Scambler, P. J., Beales, P. L., Gleeson, J. G., Maher, E. R., Attie-Bitach, T., Dollfus, H., Johnson, C. A., Green, E. D., Gibbs, R. A., Hildebrandt, F., Pierce, E. A., and Katsanis, N. (2011). TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat. Genet. 43, 189-196.
-
(2011)
Nat. Genet
, vol.43
, pp. 189-196
-
-
Davis, E.E.1
Zhang, Q.2
Liu, Q.3
Diplas, B.H.4
Davey, L.M.5
Hartley, J.6
Stoetzel, C.7
Szymanska, K.8
Ramaswami, G.9
Logan, C.V.10
Muzny, D.M.11
Young, A.C.12
Wheeler, D.A.13
Cruz, P.14
Morgan, M.15
Lewis, L.R.16
Cherukuri, P.17
Maskeri, B.18
Hansen, N.F.19
Mullikin, J.C.20
Blakesley, R.W.21
Bouffard, G.G.22
Gyapay, G.23
Rieger, S.24
Tonshoff, B.25
Kern, I.26
Soliman, N.A.27
Neuhaus, T.J.28
Swoboda, K.J.29
Kayserili, H.30
Gallagher, T.E.31
Lewis, R.A.32
Bergmann, C.33
Otto, E.A.34
Saunier, S.35
Scambler, P.J.36
Beales, P.L.37
Gleeson, J.G.38
Maher, E.R.39
Attie-Bitach, T.40
Dollfus, H.41
Johnson, C.A.42
Green, E.D.43
Gibbs, R.A.44
Hildebrandt, F.45
Pierce, E.A.46
Katsanis, N.47
more..
-
39
-
-
34347324031
-
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome
-
Delous, M., Baala, L., Salomon, R., Laclef, C., Vierkotten, J., Tory, K., Golzio, C., Lacoste, T., Besse, L., Ozilou, C., Moutkine, I., Hellman, N. E., Anselme, I., Silbermann, F., Vesque, C., Gerhardt, C., Rattenberry, E., Wolf, M. T. F., Gubler, M. C., Martinovic, J., Encha-Razavi, F., Boddaert, N., Gonzales, M., Macher, M. A., Nivet, H., Champion, G., Bertheleme, J. P., Niaudet, P., Mcdonald, F., Hildebrandt, F., Johnson, C. A., Vekemans, M., Antignac, C., Ruther, U., Schneider-Maunoury, S., Attie-Bitach, T., and Saunier, S. (2007). The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome. Nat. Genet. 39, 875-881.
-
(2007)
Nat. Genet
, vol.39
, pp. 875-881
-
-
Delous, M.1
Baala, L.2
Salomon, R.3
Laclef, C.4
Vierkotten, J.5
Tory, K.6
Golzio, C.7
Lacoste, T.8
Besse, L.9
Ozilou, C.10
Moutkine, I.11
Hellman, N.E.12
Anselme, I.13
Silbermann, F.14
Vesque, C.15
Gerhardt, C.16
Rattenberry, E.17
Wolf, M.T.F.18
Gubler, M.C.19
Martinovic, J.20
Encha-Razavi, F.21
Boddaert, N.22
Gonzales, M.23
Macher, M.A.24
Nivet, H.25
Champion, G.26
Bertheleme, J.P.27
Niaudet, P.28
Mcdonald, F.29
Hildebrandt, F.30
Johnson, C.A.31
Vekemans, M.32
Antignac, C.33
Ruther, U.34
Schneider-Maunoury, S.35
Attie-Bitach, T.36
Saunier, S.37
more..
-
40
-
-
70349163999
-
Joubert syndrome: Insights into brain development, cil-ium biology, and complex disease
-
Doherty, D. (2009). Joubert syndrome: insights into brain development, cil-ium biology, and complex disease. Semin. Pediatr. Neurol. 16, 143-154.
-
(2009)
Semin. Pediatr. Neurol
, vol.16
, pp. 143-154
-
-
Doherty, D.1
-
41
-
-
0019948581
-
Joubert-Boltshauser syndrome with polydactyly in siblings
-
Egger, J., Bellman, M. H., Ross, E. M., and Baraitser, M. (1982). Joubert-Boltshauser syndrome with polydactyly in siblings. J. Neurol. Neurosurg. Psychiatr. 45, 737-739.
-
(1982)
J. Neurol. Neurosurg. Psychiatr
, vol.45
, pp. 737-739
-
-
Egger, J.1
Bellman, M.H.2
Ross, E.M.3
Baraitser, M.4
-
42
-
-
33644998123
-
Development of the deep cerebellar nuclei: Transcription factors and cell migration from the rhombic lip
-
Fink, A. J., Englund, C., Daza, R. A., Pham, D., Lau, C., Nivison, M., Kowalczyk, T., and Hevner, R. F. (2006). Development of the deep cerebellar nuclei: transcription factors and cell migration from the rhombic lip. J. Neurosci. 26, 3066-3076.
-
(2006)
J. Neurosci
, vol.26
, pp. 3066-3076
-
-
Fink, A.J.1
Englund, C.2
Daza, R.A.3
Pham, D.4
Lau, C.5
Nivison, M.6
Kowalczyk, T.7
Hevner, R.F.8
-
43
-
-
42949106450
-
MID1 mutations in patients with X-linked Opitz G/BBB syndrome
-
Fontanella, B., Russolillo, G., and Meroni, G. (2008). MID1 mutations in patients with X-linked Opitz G/BBB syndrome. Hum. Mutat. 29, 584-594.
-
(2008)
Hum. Mutat
, vol.29
, pp. 584-594
-
-
Fontanella, B.1
Russolillo, G.2
Meroni, G.3
-
44
-
-
38149045761
-
Mutations of the CEP290 gene encoding a centro-somal protein cause Meckel-Gruber syndrome
-
Frank, V., Hollander, A. I. D., Brüchle, N. O., Zonneveld, M. N., Nürnberg, G., Becker, C., Bois, G. D., Kendziorra, H., Roosing, S., Senderek, J., Nürnberg, P., Cremers, F. P. M., Zerres, K., and Bergmann, C. (2008). Mutations of the CEP290 gene encoding a centro-somal protein cause Meckel-Gruber syndrome. Hum. Mutat. 29, 45-52.
-
(2008)
Hum. Mutat
, vol.29
, pp. 45-52
-
-
Frank, V.1
Hollander, A.I.D.2
Brüchle, N.O.3
Zonneveld, M.N.4
Nürnberg, G.5
Becker, C.6
Bois, G.D.7
Kendziorra, H.8
Roosing, S.9
Senderek, J.10
Nürnberg, P.11
Cremers, F.P.M.12
Zerres, K.13
Bergmann, C.14
-
46
-
-
77956010349
-
Role for Reelin in stabilizing cortical architecture
-
Frotscher, M. (2010). Role for Reelin in stabilizing cortical architecture. Trends Neurosci. 33, 407-414.
-
(2010)
Trends Neurosci
, vol.33
, pp. 407-414
-
-
Frotscher, M.1
-
47
-
-
0028855204
-
Developmental aspects of type II lissencephaly
-
Gelot, A., Billette de Villemeur, T., Bordarier, C., Ruchoux, M. M., Moraine, C., and Ponsot, G. (1995). Developmental aspects of type II lissencephaly. Comparative study of dysplastic lesions in fetal and postnatal brains. Acta Neuropathol. 89, 72-84.
-
(1995)
Comparative study of dysplastic lesions in fetal and postnatal brains. Acta Neuropathol
, vol.89
, pp. 72-84
-
-
Gelot, A.1
Billette de Villemeur, T.2
Bordarier, C.3
Ruchoux, M.M.4
Moraine, C.5
Ponsot, G.6
-
48
-
-
67649870489
-
Joubert syndrome with bilateral polymicrogyria: Clinical and neu-ropathological findings in two brothers
-
Giordano, L., Vignoli, A., Pinelli, L., Brancati, F., Accorsi, P., Faravelli, F., Gasparotti, R., Granata, T., Giaccone, G., Inverardi, F., Frassoni, C., Dallapiccola, B., Valente, E., and Spreafico, R. (2009). Joubert syndrome with bilateral polymicrogyria: clinical and neu-ropathological findings in two brothers. Am. J. Med. Genet. 149A, 1511-1515.
-
(2009)
Am. J. Med. Genet.
, vol.149 A
, pp. 1511-1515
-
-
Giordano, L.1
Vignoli, A.2
Pinelli, L.3
Brancati, F.4
Accorsi, P.5
Faravelli, F.6
Gasparotti, R.7
Granata, T.8
Giaccone, G.9
Inverardi, F.10
Frassoni, C.11
Dallapiccola, B.12
Valente, E.13
Spreafico, R.14
-
49
-
-
26844470918
-
Autosomal recessive cerebellar hypoplasia in the Hutterite population
-
Glass, H. C., Boycott, K. M., Adams, C., Barlow, K., Scott, J. N., Chudley, A. E., Fujiwara, T. M., Morgan, K., E., Wirrell, E., and Mcleod, D. R. (2005). Autosomal recessive cerebellar hypoplasia in the Hutterite population. Dev. Med. Child Neurol. 47, 691-695.
-
(2005)
Dev. Med. Child Neurol
, vol.47
, pp. 691-695
-
-
Glass, H.C.1
Boycott, K.M.2
Adams, C.3
Barlow, K.4
Scott, J.N.5
Chudley, A.E.6
Fujiwara, T.M.7
Morgan, K.E.8
Wirrell, E.9
Mcleod, D.R.10
-
50
-
-
10744229593
-
Molar tooth sign of the midbrain-hindbrain junction: Occurrence in multiple distinct syndromes
-
Gleeson, J. G., Keeler, L. C., Parisi, M. A., Marsh, S. E., Chance, P. F., Glass, I. A., Graham Jr, J. M., Maria, B. L., Barkovich, A. J., and Dobyns, W. B. (2004). Molar tooth sign of the midbrain-hindbrain junction: occurrence in multiple distinct syndromes. Am. J. Med. Genet. A 125A, 125-134.
-
(2004)
Am. J. Med. Genet. A
, vol.125 A
, pp. 125-134
-
-
Gleeson, J.G.1
Keeler, L.C.2
Parisi, M.A.3
Marsh, S.E.4
Chance, P.F.5
Glass, I.A.6
Graham Jr., J.M.7
Maria, B.L.8
Barkovich, A.J.9
Dobyns, W.B.10
-
51
-
-
34848837334
-
Refining genotype phenotype correlations in muscular dystrophies with defective glycosyla-tion of dystroglycan
-
Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., Manzur, A. Y., Kinali, M., Torelli, S., Brown, S. C., Sewry, C. A., Bushby, K., Topaloglu, H., North, K., Abbs, S., and Muntoni, F. (2007). Refining genotype phenotype correlations in muscular dystrophies with defective glycosyla-tion of dystroglycan. Brain 130, 2725-2735.
-
(2007)
Brain
, vol.130
, pp. 2725-2735
-
-
Godfrey, C.1
Clement, E.2
Mein, R.3
Brockington, M.4
Smith, J.5
Talim, B.6
Straub, V.7
Robb, S.8
Quinlivan, R.9
Feng, L.10
Jimenez-Mallebrera, C.11
Mercuri, E.12
Manzur, A.Y.13
Kinali, M.14
Torelli, S.15
Brown, S.C.16
Sewry, C.A.17
Bushby, K.18
Topaloglu, H.19
North, K.20
Abbs, S.21
Muntoni, F.22
more..
-
52
-
-
0023475827
-
Dandy-Walker syndrome and associated anomalies
-
Golden, J. A., Rorke, L. B., and Bruce, D. A. (1987). Dandy-Walker syndrome and associated anomalies. Pediatr. Neurosci. 13, 38-44.
-
(1987)
Pediatr. Neurosci
, vol.13
, pp. 38-44
-
-
Golden, J.A.1
Rorke, L.B.2
Bruce, D.A.3
-
53
-
-
55249102622
-
CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290
-
Gorden, N. T., Arts, H. H., Parisi, M. A., Coene, K. L., Letteboer, S. J., Van Beersum, S. E., Mans, D. A., Hikida, A., Eckert, M., Knutzen, D., Alswaid, A. F., Ozyurek, H., Dibooglu, S., Otto, E. A., Liu, Y., Davis, E. E., Hutter, C. M., Bammler, T. K., Farin, F. M., Dorschner, M., Topcu, M., Zackai, E. H., Rosenthal, P., Owens, K. N., Katsanis, N., Vincent, J. B., Hildebrandt, F., Rubel, E. W., Raible, D. W., Knoers, N. V., Chance, P. F., Roepman, R., Moens, C. B., Glass, I. A., and Doherty, D. (2008). CC2D2A is mutated in Joubert syndrome and interacts with the ciliopathy-associated basal body protein CEP290. Am. J. Hum. Genet. 83, 559-571.
-
(2008)
Am. J. Hum. Genet
, vol.83
, pp. 559-571
-
-
Gorden, N.T.1
Arts, H.H.2
Parisi, M.A.3
Coene, K.L.4
Letteboer, S.J.5
Van Beersum, S.E.6
Mans, D.A.7
Hikida, A.8
Eckert, M.9
Knutzen, D.10
Alswaid, A.F.11
Ozyurek, H.12
Dibooglu, S.13
Otto, E.A.14
Liu, Y.15
Davis, E.E.16
Hutter, C.M.17
Bammler, T.K.18
Farin, F.M.19
Dorschner, M.20
Topcu, M.21
Zackai, E.H.22
Rosenthal, P.23
Owens, K.N.24
Katsanis, N.25
Vincent, J.B.26
Hildebrandt, F.27
Rubel, E.W.28
Raible, D.W.29
Knoers, N.V.30
Chance, P.F.31
Roepman, R.32
Moens, C.B.33
Glass, I.A.34
Doherty, D.35
more..
-
54
-
-
15844421228
-
The ZIC gene family in development and disease
-
Grinberg, I., and Millen, K. J. (2005). The ZIC gene family in development and disease. Clin. Genet. 67, 290-296.
-
(2005)
Clin. Genet
, vol.67
, pp. 290-296
-
-
Grinberg, I.1
Millen, K.J.2
-
55
-
-
6944220087
-
Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in DandyWalker malformation
-
Grinberg, I., Northrup, H., Ardinger, H., Prasad, C., Dobyns, W. B., and Millen, K. J. (2004). Heterozygous deletion of the linked genes ZIC1 and ZIC4 is involved in DandyWalker malformation. Nat. Genet. 36, 1053-1055.
-
(2004)
Nat. Genet.
, vol.36
, pp. 1053-1055
-
-
Grinberg, I.1
Northrup, H.2
Ardinger, H.3
Prasad, C.4
Dobyns, W.B.5
Millen, K.J.6
-
56
-
-
36549059188
-
Divergent roles of ApoER2 and Vldlr in the migration of cortical neurons
-
Hack, I., Hellwig, S., Junghans, D., Brunne, B., Bock, H. H., Zhao, S., and Frotscher, M. (2007). Divergent roles of ApoER2 and Vldlr in the migration of cortical neurons. Development 134, 3883-3891.
-
(2007)
Development
, vol.134
, pp. 3883-3891
-
-
Hack, I.1
Hellwig, S.2
Junghans, D.3
Brunne, B.4
Bock, H.H.5
Zhao, S.6
Frotscher, M.7
-
57
-
-
0031044984
-
Muscle-eye-brain disease: A neuropathological study
-
Haltia, M., Leivo, I., Somer, H., Pihko, H., Paetau, A., Kivelä, T., Tarkkanen, A., Tomé, F., Engvall, E., and Santavuori, P. (1997). Muscle-eye-brain disease: a neuropathological study. Ann. Neurol. 41, 173-180.
-
(1997)
Ann. Neurol
, vol.41
, pp. 173-180
-
-
Haltia, M.1
Leivo, I.2
Somer, H.3
Pihko, H.4
Paetau, A.5
Kivelä, T.6
Tarkkanen, A.7
Tomé, F.8
Engvall, E.9
Santavuori, P.10
-
58
-
-
0015385098
-
The Dandy-Walker syndrome. A clinicopathological study based on 28 cases
-
Hart, M. N., Malamud, N., and Ellis, W. G. (1972). The Dandy-Walker syndrome. A clinicopathological study based on 28 cases. Neurology 22, 771-780.
-
(1972)
Neurology
, vol.22
, pp. 771-780
-
-
Hart, M.N.1
Malamud, N.2
Ellis, W.G.3
-
59
-
-
80051975572
-
Interpeduncular heterotopia in jou-bert syndrome: A previously undescribed MR finding
-
Harting, I., Kotzaeridou, U., Poretti, A., Seitz, A., Pietz, J., Bendszus, M., and Boltshauser, E. (2011). Interpeduncular heterotopia in jou-bert syndrome: a previously undescribed MR finding. AJNR. Am. J. Neuroradiol. 32, 1286-1289.
-
(2011)
AJNR. Am. J. Neuroradiol
, vol.32
, pp. 1286-1289
-
-
Harting, I.1
Kotzaeridou, U.2
Poretti, A.3
Seitz, A.4
Pietz, J.5
Bendszus, M.6
Boltshauser, E.7
-
60
-
-
0034016081
-
OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs
-
Haug, K., Khan, S., Fuchs, S., and Konig, R. (2000). OFD II, OFD VI, and Joubert syndrome manifestations in 2 sibs. Am. J. Med. Genet. 91, 135-137.
-
(2000)
Am. J. Med. Genet
, vol.91
, pp. 135-137
-
-
Haug, K.1
Khan, S.2
Fuchs, S.3
Konig, R.4
-
61
-
-
70349101617
-
Abnormal glyco-sylation of dystroglycan in human genetic disease
-
Hewitt, J. E. (2009). Abnormal glyco-sylation of dystroglycan in human genetic disease. Biochem. Biophys. Acta 1792, 853-861.
-
(2009)
Biochem. Biophys. Acta
, vol.1792
, pp. 853-861
-
-
Hewitt, J.E.1
-
62
-
-
0033213319
-
Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation
-
Hiesberger, T., Trommsdorff, M., Howell, B. W., Goffinet, A., Mumby, M. C., Cooper, J. A., and Herz, J. (1999). Direct binding of Reelin to VLDL receptor and ApoE receptor 2 induces tyrosine phosphorylation of disabled-1 and modulates tau phosphorylation. Neuron 24, 481-489.
-
(1999)
Neuron
, vol.24
, pp. 481-489
-
-
Hiesberger, T.1
Trommsdorff, M.2
Howell, B.W.3
Goffinet, A.4
Mumby, M.C.5
Cooper, J.A.6
Herz, J.7
-
63
-
-
79959889039
-
Regulation of cortical neuron migration by the Reelin signaling pathway
-
Honda, T., Kobayashi, K., Mikoshiba, K., and Nakajima, K. (2011). Regulation of cortical neuron migration by the Reelin signaling pathway. Neurochem. Res. 36, 1270-1279.
-
(2011)
Neurochem. Res
, vol.36
, pp. 1270-1279
-
-
Honda, T.1
Kobayashi, K.2
Mikoshiba, K.3
Nakajima, K.4
-
64
-
-
0342906570
-
Autosomal recessive lissencephaly with cerebellar hypoplasia (LCH) is associated with human reelin gene mutations
-
Hong, S. E., Shugart, Y. Y., Huang, D. T., Al Shahwan, S., Grant, P. E., Hourihane, J. O. B., Martin, N. D. T., and Walsh, C. A. (2000). Autosomal recessive lissencephaly with cerebellar hypoplasia (LCH) is associated with human reelin gene mutations. Nat. Genet. 26, 93-96.
-
(2000)
Nat. Genet
, vol.26
, pp. 93-96
-
-
Hong, S.E.1
Shugart, Y.Y.2
Huang, D.T.3
Al, S.S.4
Grant, P.E.5
Hourihane, J.O.B.6
Martin, N.D.T.7
Walsh, C.A.8
-
65
-
-
0022895376
-
Joubert syndrome associated with unilater ptosis and Leber congenital amaurosis
-
Houdou, S., Ohno, K., Takashima, S., and Takeshita, K. (1986). Joubert syndrome associated with unilater ptosis and Leber congenital amaurosis. Pediatr. Neurol. 2, 102-105.
-
(1986)
Pediatr. Neurol
, vol.2
, pp. 102-105
-
-
Houdou, S.1
Ohno, K.2
Takashima, S.3
Takeshita, K.4
-
66
-
-
0031035703
-
Mouse disabled (mDab1): A Src binding protein implicated in neuronal development
-
Howell, B. W., Gertler, F. B., and Cooper, J. A. (1997). Mouse disabled (mDab1): a Src binding protein implicated in neuronal development. EMBOJ. 16, 121-132.
-
(1997)
EMBOJ
, vol.16
, pp. 121-132
-
-
Howell, B.W.1
Gertler, F.B.2
Cooper, J.A.3
-
67
-
-
0242581681
-
Hedgehog signalling in the mouse requires intraflagellar transport proteins
-
Huangfu, D., Liu, A., Rakeman, A. S., Murcia, N. S., Niswander, L., and Anderson, K. V. (2003). Hedgehog signalling in the mouse requires intraflagellar transport proteins. Nature 426, 83-87.
-
(2003)
Nature
, vol.426
, pp. 83-87
-
-
Huangfu, D.1
Liu, A.2
Rakeman, A.S.3
Murcia, N.S.4
Niswander, L.5
Anderson, K.V.6
-
68
-
-
41149155385
-
Linkage to chromosome 2q36.1 in autosomal dominant DandyWalker malformation with occipital cephalocele and evidence for genetic heterogeneity
-
Jalali, A., Aldinger, K., Chary, A., Mclone, D., Bowman, R., Le, L., Jardine, P., Newbury-Ecob, R., Mallick, A., Jafari, N., Russell, E. J., Curran, J., Nguyen, P., Ouahchi, K., Lee, C., Dobyns, W. B., Millen, K. J., Pina-Neto, J. M., Kessler, J. A., and Bassuk, A. G. (2008). Linkage to chromosome 2q36.1 in autosomal dominant DandyWalker malformation with occipital cephalocele and evidence for genetic heterogeneity. Hum. Genet. 123, 237-245.
-
(2008)
Hum. Genet
, vol.123
, pp. 237-245
-
-
Jalali, A.1
Aldinger, K.2
Chary, A.3
Mclone, D.4
Bowman, R.5
Le, L.6
Jardine, P.7
Newbury-Ecob, R.8
Mallick, A.9
Jafari, N.10
Russell, E.J.11
Curran, J.12
Nguyen, P.13
Ouahchi, K.14
Lee, C.15
Dobyns, W.B.16
Millen, K.J.17
Pina-Neto, J.M.18
Kessler, J.A.19
Bassuk, A.G.20
more..
-
69
-
-
2642584008
-
Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis
-
Jen, J. C., Chan, W.-M., Bosley, T. M., Wan, J., Carr, J. R., Rub, U., Shattuck, D., Salamon, G., Kudo, L. C., Ou, J., Lin, D. D. M., Salih, M. A. M., Kansu, T., Al Dhalaan, H., Al Zayed, Z., Macdonald, D. B., Stigsby, B., Plaitakis, A., Dretakis, E. K., Gottlob, I., Pieh, C., Traboulsi, E. I., Wang, Q., Wang, L., Andrews, C., Yamada, K., Demer, J. L., Karim, S., Alger, J. R., Geschwind, D. H., Deller, T., Sicotte, N. L., Nelson, S. F., Baloh, R. W., and Engle, E. C. (2004). Mutations in a human ROBO gene disrupt hindbrain axon pathway crossing and morphogenesis. Science 304, 1509-1513.
-
(2004)
Science
, vol.304
, pp. 1509-1513
-
-
Jen, J.C.1
Chan, W.-M.2
Bosley, T.M.3
Wan, J.4
Carr, J.R.5
Rub, U.6
Shattuck, D.7
Salamon, G.8
Kudo, L.C.9
Ou, J.10
Lin, D.D.M.11
Salih, M.A.M.12
Kansu, T.13
Al, D.H.14
Al, Z.Z.15
Macdonald, D.B.16
Stigsby, B.17
Plaitakis, A.18
Dretakis, E.K.19
Gottlob, I.20
Pieh, C.21
Traboulsi, E.I.22
Wang, Q.23
Wang, L.24
Andrews, C.25
Yamada, K.26
Demer, J.L.27
Karim, S.28
Alger, J.R.29
Geschwind, D.H.30
Deller, T.31
Sicotte, N.L.32
Nelson, S.F.33
Baloh, R.W.34
Engle, E.C.35
more..
-
70
-
-
61549099628
-
Midbrain-hindbrain involvement in lissen-cephalies
-
Jissendi-Tchofo, P., Kara, S., and Barkovich, A. J. (2009). Midbrain-hindbrain involvement in lissen-cephalies. Neurology 72, 410-418.
-
(2009)
Neurology
, vol.72
, pp. 410-418
-
-
Jissendi-Tchofo, P.1
Kara, S.2
Barkovich, A.J.3
-
71
-
-
0014572497
-
Familial agenesis of the cerebellar vermis: A syndrome of episodic hyper-pnea, abnormal eye movements, ataxia, and retardation
-
Joubert, M., Eisenring, J. J., Robb, J. P., and Andermann, F. (1969). Familial agenesis of the cerebellar vermis: a syndrome of episodic hyper-pnea, abnormal eye movements, ataxia, and retardation. Neurology 19, 813-825.
-
(1969)
Neurology
, vol.19
, pp. 813-825
-
-
Joubert, M.1
Eisenring, J.J.2
Robb, J.P.3
Andermann, F.4
-
72
-
-
33750070428
-
The genetic and molecular basis of muscular dystrophy: Roles of cell-matrix linkage in the pathogenesis
-
Kanagawa, M., and Toda, T. (2006). The genetic and molecular basis of muscular dystrophy: roles of cell-matrix linkage in the pathogenesis. J. Hum. Genet. 51, 915-926.
-
(2006)
J. Hum. Genet
, vol.51
, pp. 915-926
-
-
Kanagawa, M.1
Toda, T.2
-
73
-
-
0141743551
-
Dandy-Walker malformation: Prenatal diagnosis and prognosis
-
Klein, O., Pierre-Kahn, A., Boddaert, N., Parisot, D., and Brunelle, F. (2003). Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv. Syst. 19,484-489.
-
(2003)
Childs Nerv. Syst.
, vol.19
, pp. 484-489
-
-
Klein, O.1
Pierre-Kahn, A.2
Boddaert, N.3
Parisot, D.4
Brunelle, F.5
-
74
-
-
67049087112
-
GPR56-regulated granule cell adhesion is essential for rostral cerebellar development
-
Koirala, S., Jin, Z., Piao, X., and Corfas, G. (2009). GPR56-regulated granule cell adhesion is essential for rostral cerebellar development. J. Neurosci. 29, 7439-7449.
-
(2009)
J. Neurosci
, vol.29
, pp. 7439-7449
-
-
Koirala, S.1
Jin, Z.2
Piao, X.3
Corfas, G.4
-
75
-
-
77954505218
-
TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins
-
Kumar, R. A., Pilz, D. T., Babatz, T. D., Cushion, T. D., Harvey, K., Topf, M., Yates, L., Robb, S., Uyanik, G., Mancini, G. M. S., Rees, M. I., Harvey, R. J., and Dobyns, W. B. (2010). TUBA1A mutations cause wide spectrum lissencephaly (smooth brain) and suggest that multiple neuronal migration pathways converge on alpha tubulins. Hum. Mol. Genet. 19, 2817-2827.
-
(2010)
Hum. Mol. Genet
, vol.19
, pp. 2817-2827
-
-
Kumar, R.A.1
Pilz, D.T.2
Babatz, T.D.3
Cushion, T.D.4
Harvey, K.5
Topf, M.6
Yates, L.7
Robb, S.8
Uyanik, G.9
Mancini, G.M.S.10
Rees, M.I.11
Harvey, R.J.12
Dobyns, W.B.13
-
76
-
-
79957998059
-
COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans
-
doi: 10.1371/journal.pgen.1002062
-
Labelle-Dumais, C., Dilworth, D. J., Harrington, E. P., De Leau, M., Lyons, D., Kabaeva, Z., Manzini, M. C., Dobyns, W. B., Walsh, C. A., Michele, D. E., and Gould, D. B. (2011). COL4A1 mutations cause ocular dysgenesis, neuronal localization defects, and myopathy in mice and Walker-Warburg syndrome in humans. PLoS Genet. 7:e1002062. doi: 10.1371/journal.pgen.1002062
-
(2011)
PLoS Genet.
, vol.7
-
-
Labelle-Dumais, C.1
Dilworth, D.J.2
Harrington, E.P.3
De Leau, M.4
Lyons, D.5
Kabaeva, Z.6
Manzini, M.C.7
Dobyns, W.B.8
Walsh, C.A.9
Michele, D.E.10
Gould, D.B.11
-
77
-
-
79958121228
-
Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome
-
Lancaster, M. A., Gopal, D. J., Kim, J., Saleem, S. N., Silhavy, J. L., Louie, C. M., Thacker, B. E., Williams, Y., Zaki, M. S., and Gleeson, J. G. (2011). Defective Wnt-dependent cerebellar midline fusion in a mouse model of Joubert syndrome. Nat. Med. 17, 726-731.
-
(2011)
Nat. Med
, vol.17
, pp. 726-731
-
-
Lancaster, M.A.1
Gopal, D.J.2
Kim, J.3
Saleem, S.N.4
Silhavy, J.L.5
Louie, C.M.6
Thacker, B.E.7
Williams, Y.8
Zaki, M.S.9
Gleeson, J.G.10
-
78
-
-
77649083648
-
Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis
-
Lancioni, A., Pizzo, M., Fontanella, B., Ferrentino, R., Napolitano, L. M. R., De Leonibus, E., and Meroni, G. (2010). Lack of Mid1, the mouse ortholog of the Opitz syndrome gene, causes abnormal development of the anterior cerebellar vermis. J. Neurosci. 30, 2880-2887.
-
(2010)
J. Neurosci
, vol.30
, pp. 2880-2887
-
-
Lancioni, A.1
Pizzo, M.2
Fontanella, B.3
Ferrentino, R.4
Napolitano, L.M.R.5
De Leonibus, E.6
Meroni, G.7
-
79
-
-
45749090990
-
The reelin receptors Apoer2 and Vldlr coordinate the patterning of purkinje cell topography in the developing mouse cerebellum
-
doi: 10.1371/journal.pone.0001653
-
Larouche, M., Beffert, U., Herz, J., and Hawkes, R. (2008). The reelin receptors Apoer2 and Vldlr coordinate the patterning of purkinje cell topography in the developing mouse cerebellum. PLoS One 3:e1653. doi: 10.1371/journal.pone.0001653
-
(2008)
PLoS One
, vol.3
-
-
Larouche, M.1
Beffert, U.2
Herz, J.3
Hawkes, R.4
-
80
-
-
77953027185
-
Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: Expansion of the foetal neuropathological phenotype
-
Lecourtois, M., Poirier, K., Friocourt, G., Jaglin, X., Goldenberg, A., Saugier-Veber, P., Chelly, J., and Laquerriere, A. (2010). Human lissencephaly with cerebellar hypoplasia due to mutations in TUBA1A: expansion of the foetal neuropathological phenotype. Acta Neuropathol. 119, 779-789.
-
(2010)
Acta Neuropathol
, vol.119
, pp. 779-789
-
-
Lecourtois, M.1
Poirier, K.2
Friocourt, G.3
Jaglin, X.4
Goldenberg, A.5
Saugier-Veber, P.6
Chelly, J.7
Laquerriere, A.8
-
81
-
-
45949087568
-
GPR56 regulates pial basement membrane integrity and cortical lamination
-
Li, S., Jin, Z., Koirala, S., Bu, L., Xu, L., Hynes, R. O., Walsh, C. A., Corfas, G., and Piao, X. (2008). GPR56 regulates pial basement membrane integrity and cortical lamination. J. Neurosci. 28, 5817-5826.
-
(2008)
J. Neurosci
, vol.28
, pp. 5817-5826
-
-
Li, S.1
Jin, Z.2
Koirala, S.3
Bu, L.4
Xu, L.5
Hynes, R.O.6
Walsh, C.A.7
Corfas, G.8
Piao, X.9
-
82
-
-
3543089764
-
Segmentation and compartition in the early avian hindbrain
-
Lumsden, A. (2004). Segmentation and compartition in the early avian hindbrain. Mech. Dev. 121, 1081-1088.
-
(2004)
Mech. Dev
, vol.121
, pp. 1081-1088
-
-
Lumsden, A.1
-
83
-
-
79961219740
-
G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination
-
Luo, R., Jeong, S.-J., Jin, Z., Strokes, N., Li, S., and Piao, X. (2011). G protein-coupled receptor 56 and collagen III, a receptor-ligand pair, regulates cortical development and lamination. Proc. Nat. Acad. Sci. U.S.A. 108, 12925-12930.
-
(2011)
Proc. Nat. Acad. Sci. U.S. A
, vol.108
, pp. 12925-12930
-
-
Luo, R.1
Jeong, S.-J.2
Jin, Z.3
Strokes, N.4
Li, S.5
Piao, X.6
-
84
-
-
0031438402
-
Joubert syndrome revisited: Key ocular motor signs with magnetic resonance imaging correlation
-
Maria, B., Hoang, K., Tusa, R., Mancuso, A., Hamed, L., Quisling, R., Hove, M., Fennell, E., Booth-Jones, M., Ringdahl, D., Yachnis, A., Creel, G., and Frerking, B. (1997). Joubert syndrome revisited: key ocular motor signs with magnetic resonance imaging correlation. J. Child Neurol. 12, 423-430.
-
(1997)
J. Child Neurol
, vol.12
, pp. 423-430
-
-
Maria, B.1
Hoang, K.2
Tusa, R.3
Mancuso, A.4
Hamed, L.5
Quisling, R.6
Hove, M.7
Fennell, E.8
Booth-Jones, M.9
Ringdahl, D.10
Yachnis, A.11
Creel, G.12
Frerking, B.13
-
85
-
-
0023508304
-
Dandy-Walker syndrome revisited
-
Maria, B. L., Zinreich, S. J., Carson, B. C., Rosenbaum, A. E., and Freeman, J. M. (1987). Dandy-Walker syndrome revisited. Pediatr. Neurosci. 13,45-51.
-
(1987)
Pediatr. Neurosci.
, vol.13
, pp. 45-51
-
-
Maria, B.L.1
Zinreich, S.J.2
Carson, B.C.3
Rosenbaum, A.E.4
Freeman, J.M.5
-
86
-
-
33644745063
-
The dystro-glycanopathies: The new disorders of O-linked glycosylation
-
Martin, P. T. (2005). The dystro-glycanopathies: the new disorders of O-linked glycosylation. Semin. Pediatr. Neurol. 12, 152-158.
-
(2005)
Semin. Pediatr. Neurol
, vol.12
, pp. 152-158
-
-
Martin, P.T.1
-
87
-
-
0038162490
-
Partial deletions of the long arm of chromosome 13 associated with holopros-encephaly and the Dandy-Walker malformation
-
McCormack, W. M. Jr., Shen, J. J., Curry, S. M., Berend, S. A., Kashork, C., Pinar, H., Potocki, L., and Bejjani, B. A. (2003). Partial deletions of the long arm of chromosome 13 associated with holopros-encephaly and the Dandy-Walker malformation. Am. J. Med. Genet. A 118A, 384-389.
-
(2003)
Am. J. Med. Genet. A
, vol.118 A
, pp. 384-389
-
-
McCormack Jr., W.M.1
Shen, J.J.2
Curry, S.M.3
Berend, S.A.4
Kashork, C.5
Pinar, H.6
Potocki, L.7
Bejjani, B.A.8
-
88
-
-
0026641597
-
A patient with tetra-somy 9p, Dandy-Walker cyst and Hirschsprung disease
-
Melaragno, M. I., Brunoni, D., Patricio, F. R., Corbani, M., Mustacchi, Z., Dos Santos Rde, C., and Lederman, H. M. (1992). A patient with tetra-somy 9p, Dandy-Walker cyst and Hirschsprung disease. Ann. Genet. 35, 79-84.
-
(1992)
Ann. Genet
, vol.35
, pp. 79-84
-
-
Melaragno, M.I.1
Brunoni, D.2
Patricio, F.R.3
Corbani, M.4
Mustacchi, Z.5
Dos Santos Rde, C.6
Lederman, H.M.7
-
89
-
-
0033539146
-
A role for Gbx2 in repression of Otx2 and positioning the mid/hindbrain organizer
-
Millet, S., Campbell, K., Epstein, D. J., Losos, K., Harris, E., and Joyner, A. L. (1999). A role for Gbx2 in repression of Otx2 and positioning the mid/hindbrain organizer. Nature 401, 161-164.
-
(1999)
Nature
, vol.401
, pp. 161-164
-
-
Millet, S.1
Campbell, K.2
Epstein, D.J.3
Losos, K.4
Harris, E.5
Joyner, A.L.6
-
90
-
-
0029789652
-
Distribution of a reeler gene-related antigen in the developing cerebellum: An immunohistochemical study with an allogeneic antibody CR-50 on normal and reeler mice
-
Miyata, T., Nakajima, K., Aruga, J., Takahashi, S., Ikenaka, K., Mikoshiba, K., and Ogawa, M. (1996). Distribution of a reeler gene-related antigen in the developing cerebellum: an immunohistochemical study with an allogeneic antibody CR-50 on normal and reeler mice. J. Comp. Neurol. 372, 215-228.
-
(1996)
J. Comp. Neurol
, vol.372
, pp. 215-228
-
-
Miyata, T.1
Nakajima, K.2
Aruga, J.3
Takahashi, S.4
Ikenaka, K.5
Mikoshiba, K.6
Ogawa, M.7
-
91
-
-
0030908070
-
Regulation of Purkinje cell alignment by reelin as revealed with CR-50 antibody
-
Miyata, T., Nakajima, K., Mikoshiba, K., and Ogawa, M. (1997). Regulation of Purkinje cell alignment by reelin as revealed with CR-50 antibody. J. Neurosci. 17, 3599-3609.
-
(1997)
J. Neurosci
, vol.17
, pp. 3599-3609
-
-
Miyata, T.1
Nakajima, K.2
Mikoshiba, K.3
Ogawa, M.4
-
92
-
-
29144470390
-
Oculocerebrocutaneous syndrome: The brain malformation defines a core phenotype
-
Moog, U., Jones, M. C., Bird, L. M., and Dobyns, W. B. (2005). Oculocerebrocutaneous syndrome: the brain malformation defines a core phenotype. J. Med. Genet. 42, 913-921.
-
(2005)
J. Med. Genet
, vol.42
, pp. 913-921
-
-
Moog, U.1
Jones, M.C.2
Bird, L.M.3
Dobyns, W.B.4
-
93
-
-
0037173629
-
Deletion of brain dystrogly-can recapitulates aspects of congenital muscular dystrophy
-
Moore, S. A., Saito, F., Chen, J., Michele, D. E., Henry, M. D., Messing, A., Cohn, R. D., Ross-Barta, S. E., Westra, S., Williamson, R. A., Hoshi, T., and Campbell, K. P. (2002). Deletion of brain dystrogly-can recapitulates aspects of congenital muscular dystrophy. Nature 418, 422-425.
-
(2002)
Nature
, vol.418
, pp. 422-425
-
-
Moore, S.A.1
Saito, F.2
Chen, J.3
Michele, D.E.4
Henry, M.D.5
Messing, A.6
Cohn, R.D.7
Ross-Barta, S.E.8
Westra, S.9
Williamson, R.A.10
Hoshi, T.11
Campbell, K.P.12
-
94
-
-
50449089620
-
Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum
-
Najm, J., Horn, D., Wimplinger, I., Golden, J. A., Chizhikov, V. V., Sudi, J., Christian, S. I., Ullmann, R., Kuechler, A., Haas, C. A., Flubacher, A., Charnas, L. R., Uyanik, G., Frank, U., Klopocki, E., Dobyns, W. B., and Kutsche, K. (2008). Mutations of CASK cause an X-linked brain malformation phenotype with microcephaly and hypoplasia of the brainstem and cerebellum. Nat. Genet. 40, 1065-1067.
-
(2008)
Nat. Genet
, vol.40
, pp. 1065-1067
-
-
Najm, J.1
Horn, D.2
Wimplinger, I.3
Golden, J.A.4
Chizhikov, V.V.5
Sudi, J.6
Christian, S.I.7
Ullmann, R.8
Kuechler, A.9
Haas, C.A.10
Flubacher, A.11
Charnas, L.R.12
Uyanik, G.13
Frank, U.14
Klopocki, E.15
Dobyns, W.B.16
Kutsche, K.17
-
95
-
-
0030808866
-
Disruption of hippocampal development in vivo by CR-50 mAb against Reelin
-
Nakajima, K., Mikoshiba, K., Miyata, T., Kudo, C., and Ogawa, M. (1997). Disruption of hippocampal development in vivo by CR-50 mAb against Reelin. Proc. Natl. Acad. Sci. U.S.A. 94, 8196-8201.
-
(1997)
Proc. Natl. Acad. Sci. U.S. A
, vol.94
, pp. 8196-8201
-
-
Nakajima, K.1
Mikoshiba, K.2
Miyata, T.3
Kudo, C.4
Ogawa, M.5
-
96
-
-
0023220922
-
Neurocutaneous melanosis associated with Dandy-Walker syndrome
-
Narayanan, H. S., Gandhi, D. H., and Girimaji, S. R. (1987). Neurocutaneous melanosis associated with Dandy-Walker syndrome. Clin. Neurol. Neurosurg. 89,197-200.
-
(1987)
Clin. Neurol. Neurosurg
, vol.89
, pp. 197-200
-
-
Narayanan, H.S.1
Gandhi, D.H.2
Girimaji, S.R.3
-
97
-
-
0004042407
-
-
Oxford: Oxford University Press
-
Norman, M. G., Mcgillivray, B. C., Kalousek, D. K., Hill, A., and Poskitt, K. J. (1995). Congenital Malformations of the Brain: Pathologic, Embryologic, Clinical, Radiologic and Genetic Aspects. Oxford: Oxford University Press.
-
(1995)
Congenital Malformations of the Brain: Pathologic, Embryologic, Clinical, Radiologic and Genetic Aspects
-
-
Norman, M.G.1
Mcgillivray, B.C.2
Kalousek, D.K.3
Hill, A.4
Poskitt, K.J.5
-
98
-
-
0029008666
-
The reeler gene associated antigen on Cajal-Retzius neurons is a crucial molecule for laminal organization of cortical neurons
-
Ogawa, M., Miyata, T., Nakajima, K., Yagyu, K., Seike, M., Ikenaka, K., Yamamoto, H., and Mikoshiba, K. (1996). The reeler gene associated antigen on Cajal-Retzius neurons is a crucial molecule for laminal organization of cortical neurons. Neuron 14, 899-912.
-
(1996)
Neuron
, vol.14
, pp. 899-912
-
-
Ogawa, M.1
Miyata, T.2
Nakajima, K.3
Yagyu, K.4
Seike, M.5
Ikenaka, K.6
Yamamoto, H.7
Mikoshiba, K.8
-
99
-
-
2342516034
-
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome
-
Pinson, L., Augé, J., Audollent, S., Mattéi, G., Etchevers, H., Gigarel, N., Razavi, F., Lacombe, D., Odent, S., Le Merrer, M., Amiel, J., Munnich, A., Meroni, G., Lyonnet, S., Vekemans, M., and Attié-Bitach, T. (2004). Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. J. Med. Genet. 41, 381-386.
-
(2004)
J. Med. Genet
, vol.41
, pp. 381-386
-
-
Pinson, L.1
Augé, J.2
Audollent, S.3
Mattéi, G.4
Etchevers, H.5
Gigarel, N.6
Razavi, F.7
Lacombe, D.8
Odent, S.9
Le, M.M.10
Amiel, J.11
Munnich, A.12
Meroni, G.13
Lyonnet, S.14
Vekemans, M.15
Attié-Bitach, T.16
-
100
-
-
35648991438
-
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo mis-sense mutations in tubulin alpha 1A (TUBA1A)
-
Poirier, K., Keays, D. A., Francis, F., Saillour, Y., Bahi, N., Manouvrier, S., Fallet-Bianco, C., Pasquier, L., Toutain, A., Phan, F., Tuy, D., Bienvenu, T., Joriot, S., Odent, S., Ville, D., Desguerre, I., Goldenberg, A., Moutard, M.-L., Fryns, J.-P., van Esch, H., Harvey, R. J., Siebold, C., Flint, J., Beldjord, C., and Chelly, J. (2007). Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo mis-sense mutations in tubulin alpha 1A (TUBA1A). Hum. Mutat. 28, 1055-1064.
-
(2007)
Hum. Mutat
, vol.28
, pp. 1055-1064
-
-
Poirier, K.1
Keays, D.A.2
Francis, F.3
Saillour, Y.4
Bahi, N.5
Manouvrier, S.6
Fallet-Bianco, C.7
Pasquier, L.8
Toutain, A.9
Phan, F.10
Tuy, D.11
Bienvenu, T.12
Joriot, S.13
Odent, S.14
Ville, D.15
Desguerre, I.16
Goldenberg, A.17
Moutard, M.-L.18
Fryns, J.-P.19
van Esch, H.20
Harvey, R.J.21
Siebold, C.22
Flint, J.23
Beldjord, C.24
Chelly, J.25
more..
-
101
-
-
16944365777
-
Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22
-
Quaderi, N. A., Schweiger, S., Gaudenz, K., Franco, B., Rugarli, E. I., Berger, W., Feldman, G. J., Volta, M., Andolfi, G., Gilgenkrantz, S., Marion, R. W., Hennekam, R. C., Opitz, J. M., Muenke, M., Ropers, H. H., and Ballabio, A. (1997). Opitz G/BBB syndrome, a defect of midline development, is due to mutations in a new RING finger gene on Xp22. Nat. Genet. 17, 285-291.
-
(1997)
Nat. Genet
, vol.17
, pp. 285-291
-
-
Quaderi, N.A.1
Schweiger, S.2
Gaudenz, K.3
Franco, B.4
Rugarli, E.I.5
Berger, W.6
Feldman, G.J.7
Volta, M.8
Andolfi, G.9
Gilgenkrantz, S.10
Marion, R.W.11
Hennekam, R.C.12
Opitz, J.M.13
Muenke, M.14
Ropers, H.H.15
Ballabio, A.16
-
102
-
-
0032871936
-
Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome
-
Quisling, R., Barkovich, A., and Maria, B. (1999). Magnetic resonance imaging features and classification of central nervous system malformations in Joubert syndrome. J. Child Neurol. 14, 628-635.
-
(1999)
J. Child Neurol
, vol.14
, pp. 628-635
-
-
Quisling, R.1
Barkovich, A.2
Maria, B.3
-
104
-
-
0019986038
-
Cystic malformations of the posterior fossa-abnormalities associated with development of the roof of the fourth ventricle and adjacent meningeal structures
-
Raybaud, C. (1982). Cystic malformations of the posterior fossa-abnormalities associated with development of the roof of the fourth ventricle and adjacent meningeal structures. J. Neuroradiol. 9, 103-133.
-
(1982)
J. Neuroradiol
, vol.9
, pp. 103-133
-
-
Raybaud, C.1
-
105
-
-
0031658384
-
Disabled-1 acts downstream of Reelin in a signaling pathway that controls laminar organization in the mammalian brain
-
Rice, D. S., Sheldon, M., D'Arcangelo, G., Nakajima, K., Goldowitz, D., and Curran, T. (1998). Disabled-1 acts downstream of Reelin in a signaling pathway that controls laminar organization in the mammalian brain. Development 125, 3719-3729.
-
(1998)
Development
, vol.125
, pp. 3719-3729
-
-
Rice, D.S.1
Sheldon, M.2
D'Arcangelo, G.3
Nakajima, K.4
Goldowitz, D.5
Curran, T.6
-
106
-
-
0035213853
-
Lissencephaly with cerebellar hypoplasia (LCH): A heterogeneous group of cortical malformations
-
Ross, M. E., Swanson, K., and Dobyns, W. B. (2001). Lissencephaly with cerebellar hypoplasia (LCH): a heterogeneous group of cortical malformations. Neuropediatrics 32, 256-263.
-
(2001)
Neuropediatrics
, vol.32
, pp. 256-263
-
-
Ross, M.E.1
Swanson, K.2
Dobyns, W.B.3
-
107
-
-
33644893128
-
Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains
-
Saito, Y., Yamamoto, T., Mizuguchi, M., Kobayashi, M., Saito, K., Ohno, K., and Osawa, M. (2006). Altered glycosylation of alpha-dystroglycan in neurons of Fukuyama congenital muscular dystrophy brains. Brain Res. 1075, 223-228.
-
(2006)
Brain Res
, vol.1075
, pp. 223-228
-
-
Saito, Y.1
Yamamoto, T.2
Mizuguchi, M.3
Kobayashi, M.4
Saito, K.5
Ohno, K.6
Osawa, M.7
-
108
-
-
79955808192
-
Mapping the NPHP-JBTS-MKS protein network reveals cil-iopathy disease genes and pathways
-
Sang, L., Miller, J. J., Corbit, K. C., Giles, R. H., Brauer, M. J., Otto, E. A., Baye, L. M., Wen, X., Scales, S. J., Kwong, M., Huntzicker, E. G., Sfakianos, M. K., Sandoval, W., Bazan, J. F., Kulkarni, P., Garcia-Gonzalo, F. R., Seol, A. D., O'Toole, J. F., Held, S., Reutter, H. M., Lane, W. S., Rafiq, M. A., Noor, A., Ansar, M., Devi, A. R. R., Sheffield, V. C., Slusarski, D. C., Vincent, J. B., Doherty, D. A., Hildebrandt, F., Reiter, J. F., and Jackson, P. K. (2011). Mapping the NPHP-JBTS-MKS protein network reveals cil-iopathy disease genes and pathways. Cell 145, 513-528.
-
(2011)
Cell
, vol.145
, pp. 513-528
-
-
Sang, L.1
Miller, J.J.2
Corbit, K.C.3
Giles, R.H.4
Brauer, M.J.5
Otto, E.A.6
Baye, L.M.7
Wen, X.8
Scales, S.J.9
Kwong, M.10
Huntzicker, E.G.11
Sfakianos, M.K.12
Sandoval, W.13
Bazan, J.F.14
Kulkarni, P.15
Garcia-Gonzalo, F.R.16
Seol, A.D.17
O'Toole, J.F.18
Held, S.19
Reutter, H.M.20
Lane, W.S.21
Rafiq, M.A.22
Noor, A.23
Ansar, M.24
Devi, A.R.R.25
Sheffield, V.C.26
Slusarski, D.C.27
Vincent, J.B.28
Doherty, D.A.29
Hildebrandt, F.30
Reiter, J.F.31
Jackson, P.K.32
more..
-
109
-
-
33947384151
-
Overview of structure and function of mammalian cilia
-
Satir, P., and Christensen, S. T. (2007). Overview of structure and function of mammalian cilia. Annu. Rev. Physiol. 69, 377-400.
-
(2007)
Annu. Rev. Physiol
, vol.69
, pp. 377-400
-
-
Satir, P.1
Christensen, S.T.2
-
110
-
-
0033615477
-
Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: More than just variants of Joubert syndrome
-
Satran, D., Pierpont, M. E. M., and Dobyns, W. B. (1999). Cerebello-oculo-renal syndromes including Arima, Senior-Löken and COACH syndromes: more than just variants of Joubert syndrome. Am. J. Med. Genet. 86, 459-469.
-
(1999)
Am. J. Med. Genet
, vol.86
, pp. 459-469
-
-
Satran, D.1
Pierpont, M.E.M.2
Dobyns, W.B.3
-
111
-
-
79955467998
-
Ephrin Bs are essential components of the Reelin pathway to regulate neuronal migration
-
Sentürk, A., Pfennig, S., Weiss, A., Burk, K., and Acker-Palmer, A. (2011). Ephrin Bs are essential components of the Reelin pathway to regulate neuronal migration. Nature 472, 356-360.
-
(2011)
Nature
, vol.472
, pp. 356-360
-
-
Sentürk, A.1
Pfennig, S.2
Weiss, A.3
Burk, K.4
Acker-Palmer, A.5
-
112
-
-
0030717493
-
Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice
-
Sheldon, M., Rice, D. S., D'Arcangelo, G., Yoneshima, H., Nakajima, K., Mikoshiba, K., Howell, B. W., Cooper, J. A., Goldowitz, D., and Curran, T. (1997). Scrambler and yotari disrupt the disabled gene and produce a reeler-like phenotype in mice. Nature 389, 730-733.
-
(1997)
Nature
, vol.389
, pp. 730-733
-
-
Sheldon, M.1
Rice, D.S.2
D'Arcangelo, G.3
Yoneshima, H.4
Nakajima, K.5
Mikoshiba, K.6
Howell, B.W.7
Cooper, J.A.8
Goldowitz, D.9
Curran, T.10
-
113
-
-
33747043538
-
Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations
-
Sicotte, N. L., Salamon, G., Shattuck, D. W., Hageman, N., Rub, U., Salamon, N., Drain, A. E., Demer, J. L., Engle, E. C., Alger, J. R., Baloh, R. W., Deller, T., and Jen, J. C. (2006). Diffusion tensor MRI shows abnormal brainstem crossing fibers associated with ROBO3 mutations. Neurology 67, 519-521.
-
(2006)
Neurology
, vol.67
, pp. 519-521
-
-
Sicotte, N.L.1
Salamon, G.2
Shattuck, D.W.3
Hageman, N.4
Rub, U.5
Salamon, N.6
Drain, A.E.7
Demer, J.L.8
Engle, E.C.9
Alger, J.R.10
Baloh, R.W.11
Deller, T.12
Jen, J.C.13
-
114
-
-
0038182002
-
MRI in children with mental retardation
-
Soto-Ares, G., Yjoyes, B., Lemaitre, M., Vallee, L., and Pruvo, J. (2003). MRI in children with mental retardation. Pediatr. Radiol. 33, 334-345.
-
(2003)
Pediatr. Radiol
, vol.33
, pp. 334-345
-
-
Soto-Ares, G.1
Yjoyes, B.2
Lemaitre, M.3
Vallee, L.4
Pruvo, J.5
-
115
-
-
42649103998
-
Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool
-
Spassky, N., Han, Y. G., Aguilar, A., Strehl, L., Besse, L., Laclef, C., Romaguera Ros, M., Garcia-Verdugo, J. M., and Alvarez-Buylla, A. (2008). Primary cilia are required for cerebellar development and Shh-dependent expansion of progenitor pool. Dev. Biol. 317, 246-259.
-
(2008)
Dev. Biol
, vol.317
, pp. 246-259
-
-
Spassky, N.1
Han, Y.G.2
Aguilar, A.3
Strehl, L.4
Besse, L.5
Laclef, C.6
Romaguera, R.M.7
Garcia-Verdugo, J.M.8
Alvarez-Buylla, A.9
-
116
-
-
0030882351
-
Follow-up in children with Joubert syndrome
-
Steinlin, M., Schmid, M., Landau, K., and Boltshauser, E. (1997). Follow-up in children with Joubert syndrome. Neuropediatrics 28, 204-211.
-
(1997)
Neuropediatrics
, vol.28
, pp. 204-211
-
-
Steinlin, M.1
Schmid, M.2
Landau, K.3
Boltshauser, E.4
-
117
-
-
0025683039
-
Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: Observations in fetal and pediatric cases
-
Takada, K., and Nakamura, H. (1990). Cerebellar micropolygyria in Fukuyama congenital muscular dystrophy: observations in fetal and pediatric cases. Brain Dev. 12, 774-778.
-
(1990)
Brain Dev
, vol.12
, pp. 774-778
-
-
Takada, K.1
Nakamura, H.2
-
119
-
-
0029889271
-
Cystic malformations of the posterior cranial fossa originating from a deficit of the posterior membranous area. mega cisterna magna and persisting Blake's pouch: two separate entities
-
Tortori-Donati, P., Fondelli, M., Rossi, A., and Carini, S. (1996). Cystic malformations of the posterior cranial fossa originating from a deficit of the posterior membranous area. mega cisterna magna and persisting Blake's pouch: two separate entities. Childs Nerv. Syst. 12, 303-308.
-
(1996)
Childs Nerv. Syst
, vol.12
, pp. 303-308
-
-
Tortori-Donati, P.1
Fondelli, M.2
Rossi, A.3
Carini, S.4
-
120
-
-
0033003134
-
Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2
-
Trommsdorff, M., Gotthardt, M., Hiesberger, T., Shelton, J., Stockinger, W., Nimpf, J., Hammer, R., Richardson, J., and Herz, J. (1999). Reeler/Disabled-like disruption of neuronal migration in knockout mice lacking the VLDL receptor and ApoE receptor 2. Cell 97, 689-701.
-
(1999)
Cell
, vol.97
, pp. 689-701
-
-
Trommsdorff, M.1
Gotthardt, M.2
Hiesberger, T.3
Shelton, J.4
Stockinger, W.5
Nimpf, J.6
Hammer, R.7
Richardson, J.8
Herz, J.9
-
121
-
-
0030837406
-
MRI in classification ofcongenital muscular dystrophies with brain abnormalities
-
van der Knaap, M. S., Smit, L. M. E., Barth, P. G., Catsman-Berrevoets, C. E., Brouwer, O. F., Begeer, J. H., and De Coo, I. F. M. (1997). MRI in classification ofcongenital muscular dystrophies with brain abnormalities. Ann. Neurol. 42, 50-59.
-
(1997)
Ann. Neurol
, vol.42
, pp. 50-59
-
-
van der Knaap, M.S.1
Smit, L.M.E.2
Barth, P.G.3
Catsman-Berrevoets, C.E.4
Brouwer, O.F.5
Begeer, J.H.6
De Coo, I.F.M.7
-
122
-
-
33646356732
-
The expanding phenotype of POMT1 mutations: From Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation
-
van Reeuwijk, J., Maugenre, S., van den Elzen, C., Verrips, A., Bertini, E., Muntoni, F., Merlini, L., Scheffer, H., Brunner, H. G., Guicheney, P., and van Bokhoven, H. (2006). The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation. Hum. Mutat. 27, 453-459.
-
(2006)
Hum. Mutat
, vol.27
, pp. 453-459
-
-
van Reeuwijk, J.1
Maugenre, S.2
van den Elzen, C.3
Verrips, A.4
Bertini, E.5
Muntoni, F.6
Merlini, L.7
Scheffer, H.8
Brunner, H.G.9
Guicheney, P.10
van Bokhoven, H.11
-
123
-
-
0031417066
-
Early mesencephalon/metencephalon patterning and development of the cerebellum
-
Wassef, M., and Joyner, A. (1997). Early mesencephalon/metencephalon patterning and development of the cerebellum. Perspect. Dev. Neurobiol. 5, 3-16.
-
(1997)
Perspect. Dev. Neurobiol
, vol.5
, pp. 3-16
-
-
Wassef, M.1
Joyner, A.2
-
124
-
-
0032959871
-
Control of neuronal precursor proliferation in the cerebellum by Sonic Hedgehog
-
Wechsler-Reya, R. J., and Scott, M. P. (1999). Control of neuronal precursor proliferation in the cerebellum by Sonic Hedgehog. Neuron 22, 103-114.
-
(1999)
Neuron
, vol.22
, pp. 103-114
-
-
Wechsler-Reya, R.J.1
Scott, M.P.2
-
125
-
-
40349116350
-
The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families
-
Zaki, M. S., Abdel-Aleem, A., Abdel-Salam, G. M. H., Marsh, S. E., Silhavy, J. L., Barkovich, A. J., Ross, M. E., Saleem, S. N., Dobyns, W. B., and Gleeson, J. G. (2008). The molar tooth sign: a new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. Neurology 70, 556-565.
-
(2008)
Neurology
, vol.70
, pp. 556-565
-
-
Zaki, M.S.1
Abdel-Aleem, A.2
Abdel-Salam, G.M.H.3
Marsh, S.E.4
Silhavy, J.L.5
Barkovich, A.J.6
Ross, M.E.7
Saleem, S.N.8
Dobyns, W.B.9
Gleeson, J.G.10
-
126
-
-
81955167472
-
Co-occurrence of distinct ciliopa-thy diseases in single families suggests genetic modifiers
-
Zaki, M. S., Sattar, S., Massoudi, R. A., and Gleeson, J. G. (2011). Co-occurrence of distinct ciliopa-thy diseases in single families suggests genetic modifiers. Am. J. Med. Genet. A. 155A, 3042-3049.
-
(2011)
Am. J. Med. Genet. A.
, vol.155 A
, pp. 3042-3049
-
-
Zaki, M.S.1
Sattar, S.2
Massoudi, R.A.3
Gleeson, J.G.4
-
127
-
-
35348924902
-
Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development
-
Zarbalis, K., Siegenthaler, J. A., Choe, Y., May, S. R., Peterson, A. S., and Pleasure, S. J. (2007). Cortical dysplasia and skull defects in mice with a Foxc1 allele reveal the role of meningeal differentiation in regulating cortical development. Proc. Natl. Acad. Sci. U.S.A. 104, 14002-14007.
-
(2007)
Proc. Natl. Acad. Sci. U.S. A
, vol.104
, pp. 14002-14007
-
-
Zarbalis, K.1
Siegenthaler, J.A.2
Choe, Y.3
May, S.R.4
Peterson, A.S.5
Pleasure, S.J.6
|