-
1
-
-
84870424761
-
Macrocerebellum
-
Boltshauser E, Schmahmann JD. London: Mac Keith Press
-
Poretti A, Boltshauser E. Macrocerebellum. In: Boltshauser E, Schmahmann JD, editors. Cerebellar disorders in children. London: Mac Keith Press; 2012. p. 192-3.
-
(2012)
Cerebellar Disorders in Children
, pp. 192-193
-
-
Poretti, A.1
Boltshauser, E.2
-
2
-
-
0031037033
-
The neuroimaging findings in Sotos syndrome
-
DOI 10.1002/(SICI)1096-8628(19970211)68:4<462::AID-AJMG18>3.0.CO;2- Q
-
Schaefer GB, Bodensteiner JB, Buehler BA, Lin A, Cole TR. The neuroimaging findings in Sotos syndrome. Am J Med Genet. 1997;68:462-5. (Pubitemid 27073717)
-
(1997)
American Journal of Medical Genetics
, vol.68
, Issue.4
, pp. 462-465
-
-
Schaefer, G.B.1
Bodensteiner, J.B.2
Buehler, B.A.3
Lin, A.4
Cole, T.R.P.5
-
3
-
-
77951745198
-
High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: Brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities
-
Gripp KW, Hopkins E, Doyle D, Dobyns WB. High incidence of progressive postnatal cerebellar enlargement in Costello syndrome: brain overgrowth associated with HRAS mutations as the likely cause of structural brain and spinal cord abnormalities. Am J Med Genet A. 2010;152A:1161-8.
-
(2010)
Am J Med Genet A
, vol.152
, pp. 1161-1168
-
-
Gripp, K.W.1
Hopkins, E.2
Doyle, D.3
Dobyns, W.B.4
-
4
-
-
0036772166
-
Cerebellar abnormalities in infants and toddlers with Williams syndrome
-
DOI 10.1017/S0012162201002766
-
Jones W, Hesselink J, Courchesne E, Duncan T, Matsuda K, Bellugi U. Cerebellar abnormalities in infants and toddlers with Williams syndrome. Dev Med Child Neurol. 2002;44:688-94. (Pubitemid 35230030)
-
(2002)
Developmental Medicine and Child Neurology
, vol.44
, Issue.10
, pp. 688-694
-
-
Jones, W.1
Hesselink, J.2
Courchesne, E.3
Duncan, T.4
Matsuda, K.5
Bellugi, U.6
-
5
-
-
37249078686
-
Neuroimaging findings in Macrocephaly-Capillary Malformation: A longitudinal study of 17 patients
-
DOI 10.1002/ajmg.a.32040
-
Conway RL, Pressman BD, Dobyns WB, et al. Neuroimaging findings in macrocephaly-capillary malformation: a longitudinal study of 17 patients. Am J Med Genet A. 2007;143A:2981-3008. (Pubitemid 350274813)
-
(2007)
American Journal of Medical Genetics, Part A
, vol.143
, Issue.24
, pp. 2981-3008
-
-
Conway, R.L.1
Pressman, B.D.2
Dobyns, W.B.3
Danielpour, M.4
Lee, J.5
Sanchez-Lara, P.A.6
Butler, M.G.7
Zackai, E.8
Campbell, L.9
Saitta, S.C.10
Clericuzio, C.L.11
Milunsky, J.M.12
Hoyme, H.E.13
Shieh, J.14
Moeschler, J.B.15
Crandall, B.16
Lauzon, J.L.17
Viskochil, D.H.18
Harding, B.19
Graham Jr., J.M.20
more..
-
6
-
-
34248596773
-
Surgical management of cerebellar tonsillar herniation in three patients with macrocephalycutis marmorata telangiectatica congenita. Report of three cases
-
Conway RL, DanielpourM, Graham Jr JM. Surgical management of cerebellar tonsillar herniation in three patients with macrocephalycutis marmorata telangiectatica congenita. Report of three cases. J Neurosurg. 2007;106:296-301.
-
(2007)
J Neurosurg
, vol.106
, pp. 296-301
-
-
Conway, R.L.1
Danielpour, M.2
Graham Jr., J.M.3
-
7
-
-
0027185170
-
A case of macrocephaly, hydrocephalus, megacerebellum, white matter abnormalities and Rosenthal fibres
-
Torreman M, Smit LM, van der Valk P, Valk J, Scheltens P. A case of macrocephaly, hydrocephalus, megacerebellum, white matter abnormalities and Rosenthal fibers. Dev Med Child Neurol. 1993;35:732-6. (Pubitemid 23219952)
-
(1993)
Developmental Medicine and Child Neurology
, vol.35
, Issue.8
, pp. 732-736
-
-
Torreman, M.1
Smit, L.M.E.2
Van Der Valk, P.3
Valk, J.4
Scheltens, Ph.5
-
8
-
-
20044367817
-
Unusual variants of Alexander's disease
-
DOI 10.1002/ana.20381
-
van der Knaap MS, Salomons GS, Li R, et al. Unusual variants of Alexander's disease. Ann Neurol. 2005;57:327-38. (Pubitemid 40343954)
-
(2005)
Annals of Neurology
, vol.57
, Issue.3
, pp. 327-338
-
-
Van Der Knaap, M.S.1
Salomons, G.S.2
Li, R.3
Franzoni, E.4
Gutierrez-Solana, L.G.5
Smit, L.M.E.6
Robinson, R.7
Ferrie, C.D.8
Cree, B.9
Reddy, A.10
Thomas, N.11
Banwell, B.12
Barkhof, F.13
Jakobs, C.14
Johnson, A.15
Messing, A.16
Brenner, M.17
-
9
-
-
79959949300
-
Increased cerebellar volume in the early stage of fucosidosis: A case control study
-
Kau T, Karlo C, Gungor T, et al. Increased cerebellar volume in the early stage of fucosidosis: a case control study. Neuroradiology. 2011;53:509-16.
-
(2011)
Neuroradiology
, vol.53
, pp. 509-516
-
-
Kau, T.1
Karlo, C.2
Gungor, T.3
-
10
-
-
0023841434
-
Clinical and radiological aspects of dysplastic gangliocytoma (Lhermitte-Duclos disease): A report of two cases with review of the literature
-
Milbouw G, Born JD, Martin D, et al. Clinical and radiological aspects of dysplastic gangliocytoma (Lhermitte-Duclos disease): a report of two cases with review of the literature. Neurosurgery. 1988;22:124-8. (Pubitemid 18056879)
-
(1988)
Neurosurgery
, vol.22
, Issue.1
, pp. 124-128
-
-
Milbouw, G.1
Born, J.D.2
Martin, D.3
Collignon, J.4
Hans, P.5
Reznik, M.6
Bonnal, J.7
-
11
-
-
0036196709
-
Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): A malformation, hamartoma or neoplasm?
-
DOI 10.1034/j.1600-0404.2002.1r127.x
-
Nowak DA, Trost HA. Lhermitte-Duclos disease (dysplastic cerebellar gangliocytoma): a malformation, hamartoma or neoplasm? Acta Neurol Scand. 2002;105:137-45. (Pubitemid 34258952)
-
(2002)
Acta Neurologica Scandinavica
, vol.105
, Issue.3
, pp. 137-145
-
-
Nowak, D.A.1
Trost, H.A.2
-
12
-
-
18544394524
-
Lhermitte-Duclos disease and Cowden disease: Clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review
-
Perez-Nunez A, Lagares A, Benitez J, et al. Lhermitte-Duclos disease and Cowden disease: clinical and genetic study in five patients with Lhermitte-Duclos disease and literature review. Acta Neurochir (Wien). 2004;146:679-90. (Pubitemid 38856613)
-
(2004)
Acta Neurochirurgica
, vol.146
, Issue.7
, pp. 679-690
-
-
Perez-Nunez, A.1
Lagares, A.2
Benitez, J.3
Urioste, M.4
Lobato, R.D.5
Ricoy, J.R.6
Ramos, A.7
Gonzalez, P.8
-
13
-
-
0030930431
-
Macrocerebellum: Neuroimaging and clinical features of a newly recognized condition
-
Bodensteiner JB, Schaefer GB, Keller GM, Thompson JN, Bowen MK. Macrocerebellum: neuroimaging and clinical features of a newly recognized condition. J Child Neurol. 1997;12:365-8.
-
(1997)
J Child Neurol
, vol.12
, pp. 365-368
-
-
Bodensteiner, J.B.1
Schaefer, G.B.2
Keller, G.M.3
Thompson, J.N.4
Bowen, M.K.5
-
14
-
-
79957624318
-
Cerebellum enlargement and corpus callosum agenesis: A longitudinal case report
-
Pichiecchio A, Di Perri C, Arnoldi S, et al. Cerebellum enlargement and corpus callosum agenesis: a longitudinal case report. J Child Neurol. 2011;26:756-60.
-
(2011)
J Child Neurol.
, vol.26
, pp. 756-760
-
-
Pichiecchio, A.1
Di Perri, C.2
Arnoldi, S.3
-
15
-
-
78650837442
-
The cerebellar development in Chinese children - A study by voxel-based volume measurement of reconstructed 3D MRI scan
-
Wu KH, Chen CY, Shen EY. The cerebellar development in Chinese children -a study by voxel-based volume measurement of reconstructed 3D MRI scan. Pediatr Res. 2011;69:80-3.
-
(2011)
Pediatr Res
, vol.69
, pp. 80-83
-
-
Wu, K.H.1
Chen, C.Y.2
Shen, E.Y.3
-
16
-
-
22144493784
-
Increasing the power of functional maps of the medial temporal lobe by using large deformation diffeomorphic metric mapping
-
DOI 10.1073/pnas.0503892102
-
Miller MI, Beg MF, Ceritoglu C, Stark C. Increasing the power of functional maps of the medial temporal lobe by using large deformation diffeomorphic metric mapping. Proc Natl Acad Sci U S A. 2005;102:9685-90. (Pubitemid 40981741)
-
(2005)
Proceedings of the National Academy of Sciences of the United States of America
, vol.102
, Issue.27
, pp. 9685-9690
-
-
Miller, M.I.1
Beg, M.F.2
Ceritoglu, C.3
Stark, C.4
-
17
-
-
78049242136
-
Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia
-
Endris V, Hackmann K, Neuhann TM, et al. Homozygous loss of CHRNA7 on chromosome 15q13.3 causes severe encephalopathy with seizures and hypotonia. Am J Med Genet A. 2010;152A:2908-11.
-
(2010)
Am J Med Genet A
, vol.152
, pp. 2908-2911
-
-
Endris, V.1
Hackmann, K.2
Neuhann, T.M.3
-
18
-
-
84870460688
-
Cerebellar hypoplasia
-
Boltshauser E, Schmahmann JD, editors. London: Mac Keith Press
-
Poretti A, Boltshauser E. Cerebellar hypoplasia. In: Boltshauser E, Schmahmann JD, editors. Cerebellar disorders in children. London: Mac Keith Press; 2012. p. 121-34.
-
(2012)
Cerebellar Disorders in Children
, pp. 121-134
-
-
Poretti, A.1
Boltshauser, E.2
-
19
-
-
58149096903
-
Cerebellar disorders in childhood: Cognitive problems
-
Steinlin M. Cerebellar disorders in childhood: cognitive problems. Cerebellum. 2008;7:607-10.
-
(2008)
Cerebellum
, vol.7
, pp. 607-610
-
-
Steinlin, M.1
-
20
-
-
63049083462
-
Neurodevelopmental outcomes in children with cerebellar malformations: A systematic review
-
Bolduc ME, Limperopoulos C. Neurodevelopmental outcomes in children with cerebellar malformations: a systematic review. Dev Med Child Neurol. 2009;51:256-67.
-
(2009)
Dev Med Child Neurol
, vol.51
, pp. 256-267
-
-
Bolduc, M.E.1
Limperopoulos, C.2
-
21
-
-
69549103438
-
Development of the human cerebellum and its disorders
-
Ten Donkelaar HJ, Lammens M. Development of the human cerebellum and its disorders. Clin Perinatol. 2009;36:513-30.
-
(2009)
Clin Perinatol
, vol.36
, pp. 513-530
-
-
Ten Donkelaar, H.J.1
Lammens, M.2
-
22
-
-
0035733762
-
Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease
-
DOI 10.1038/ng782
-
Backman SA, Stambolic V, Suzuki A, et al. Deletion of Pten in mouse brain causes seizures, ataxia and defects in soma size resembling Lhermitte-Duclos disease. Nat Genet. 2001;29:396-403. (Pubitemid 34326689)
-
(2001)
Nature Genetics
, vol.29
, Issue.4
, pp. 396-403
-
-
Backman, S.A.1
Stambolic, V.2
Suzuki, A.3
Haight, J.4
Elia, A.5
Pretorius, J.6
Tsao, M.-S.7
Shannon, P.8
Bolon, B.9
Ivy, G.O.10
Mak, T.W.11
-
23
-
-
0035734381
-
Pten regulates neuronal soma size: A mouse model of Lhermitte-Duclos disease
-
DOI 10.1038/ng781
-
Kwon CH, Zhu X, Zhang J, et al. Pten regulates neuronal soma size: a mouse model of Lhermitte-Duclos disease. Nat Genet. 2001;29:404-11. (Pubitemid 34326690)
-
(2001)
Nature Genetics
, vol.29
, Issue.4
, pp. 404-411
-
-
Kwon, C.-H.1
Zhu, X.2
Zhang, J.3
Knoop, L.L.4
Tharp, R.5
Smeyne, R.J.6
Eberhart, C.G.7
Burger, P.C.8
Baker, S.J.9
-
24
-
-
0142042940
-
Development and malformations of the cerebellum in mice
-
DOI 10.1016/j.ymgme.2003.08.019
-
Chizhikov V, Millen KJ. Development and malformations of the cerebellum in mice. Mol Genet Metab. 2003;80:54-65. (Pubitemid 37279144)
-
(2003)
Molecular Genetics and Metabolism
, vol.80
, Issue.1-2
, pp. 54-65
-
-
Chizhikov, V.1
Millen, K.J.2
-
25
-
-
0032966885
-
Cerebellar histogenesis is disturbed in mice lacking cyclin D2
-
Huard JM, Forster CC, Carter ML, Sicinski P, Ross ME. Cerebellar histogenesis is disturbed in mice lacking cyclin D2. Development. 1999;126:1927-35. (Pubitemid 29240326)
-
(1999)
Development
, vol.126
, Issue.9
, pp. 1927-1935
-
-
Huard, J.M.T.1
Forster, C.C.2
Carter, M.L.3
Sicinski, P.4
Ross, M.E.5
-
26
-
-
0034255133
-
A role for p27/Kip1 in the control of cerebellar granule cell precursor proliferation
-
Miyazawa K, Himi T, Garcia V, Yamagishi H, Sato S, Ishizaki Y. A role for p27/Kip1 in the control of cerebellar granule cell precursor proliferation. J Neurosci. 2000;20:5756-63. (Pubitemid 30636904)
-
(2000)
Journal of Neuroscience
, vol.20
, Issue.15
, pp. 5756-5763
-
-
Miyazawa, K.1
Himi, T.2
Garcia, V.3
Yamagishi, H.4
Sato, S.5
Ishizaki, Y.6
-
28
-
-
80054918557
-
A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features
-
Liao J, Deward SJ, Madan-Khetarpal S, Surti U, Hu J. A small homozygous microdeletion of 15q13.3 including the CHRNA7 gene in a girl with a spectrum of severe neurodevelopmental features. Am J Med Genet A. 2011;155:2795-800.
-
(2011)
Am J Med Genet A.
, vol.155
, pp. 2795-2800
-
-
Liao, J.1
Deward, S.J.2
Madan-Khetarpal, S.3
Surti, U.4
Hu, J.5
-
29
-
-
79960080944
-
Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings
-
Spielmann M, Reichelt G, Hertzberg C, et al. Homozygous deletion of chromosome 15q13.3 including CHRNA7 causes severe mental retardation, seizures, muscular hypotonia, and the loss of KLF13 and TRPM1 potentially cause macrocytosis and congenital retinal dysfunction in siblings. Eur J Med Genet. 2011;54:e441-5.
-
(2011)
Eur J Med Genet.
, vol.54
-
-
Spielmann, M.1
Reichelt, G.2
Hertzberg, C.3
|