-
1
-
-
33845323746
-
Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1
-
Jacquemont, S., Hagerman, R.J., Hagerman, P.J. and Leehey, M.A. (2007) Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol., 6, 45-55.
-
(2007)
Lancet Neurol.
, vol.6
, pp. 45-55
-
-
Jacquemont, S.1
Hagerman, R.J.2
Hagerman, P.J.3
Leehey, M.A.4
-
2
-
-
41949107450
-
The fragile X family of disorders: a model for autism and targeted treatments
-
Hagerman, R., Rivera, S.M. and Hagerman, P. (2008) The fragile X family of disorders: a model for autism and targeted treatments. Curr. Pediatr. Rev., 4, 40-52.
-
(2008)
Curr. Pediatr. Rev.
, vol.4
, pp. 40-52
-
-
Hagerman, R.1
Rivera, S.M.2
Hagerman, P.3
-
4
-
-
56749165180
-
CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome
-
Brouwer, J.R., Huizer, K., Severijnen, L.A., Hukema, R.K., Berman, R.F., Oostra, B.A. and Willemsen, R. (2008) CGG-repeat length and neuropathological and molecular correlates in a mouse model for fragile X-associated tremor/ataxia syndrome. J. Neurochem., 107, 1671-1682.
-
(2008)
J. Neurochem.
, vol.107
, pp. 1671-1682
-
-
Brouwer, J.R.1
Huizer, K.2
Severijnen, L.A.3
Hukema, R.K.4
Berman, R.F.5
Oostra, B.A.6
Willemsen, R.7
-
5
-
-
0026345716
-
Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox
-
Fu, Y.H., Kuhl, D.P., Pizzuti, A., Pieretti, M., Sutcliffe, J.S., Richards, S., Verkerk, A.J., Holden, J.J., Fenwick, R.G. Jr, Warren, S.T. et al. (1991) Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox. Cell, 67, 1047-1058.
-
(1991)
Cell
, vol.67
, pp. 1047-1058
-
-
Fu, Y.H.1
Kuhl, D.P.2
Pizzuti, A.3
Pieretti, M.4
Sutcliffe, J.S.5
Richards, S.6
Verkerk, A.J.7
Holden, J.J.8
Fenwick R.G., Jr.9
Warren, S.T.10
-
6
-
-
50049086691
-
The fragile X prevalence paradox
-
Hagerman, P.J. (2008) The fragile X prevalence paradox. J. Med. Genet., 45, 498-499.
-
(2008)
J. Med. Genet.
, vol.45
, pp. 498-499
-
-
Hagerman, P.J.1
-
7
-
-
18444361806
-
Prevalence of the fragile X syndrome in African-Americans
-
Crawford, D.C., Meadows, K.L., Newman, J.L., Taft, L.F., Scott, E., Leslie, M., Shubek, L., Holmgreen, P., Yeargin-Allsopp, M., Boyle, C. et al. (2002) Prevalence of the fragile X syndrome in African-Americans. Am. J. Med. Genet., 110, 226-233.
-
(2002)
Am. J. Med. Genet.
, vol.110
, pp. 226-233
-
-
Crawford, D.C.1
Meadows, K.L.2
Newman, J.L.3
Taft, L.F.4
Scott, E.5
Leslie, M.6
Shubek, L.7
Holmgreen, P.8
Yeargin-Allsopp, M.9
Boyle, C.10
-
8
-
-
12744260103
-
Autistic spectrum disorder and the fragile X premutation
-
Goodlin-Jones, B.L., Tassone, F., Gane, L.W. and Hagerman, R.J. (2004) Autistic spectrum disorder and the fragile X premutation. J. Dev. Behav. Pediatr., 25, 392-398.
-
(2004)
J. Dev. Behav. Pediatr.
, vol.25
, pp. 392-398
-
-
Goodlin-Jones, B.L.1
Tassone, F.2
Gane, L.W.3
Hagerman, R.J.4
-
9
-
-
27644483475
-
Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation
-
Hessl, D., Tassone, F., Loesch, D.Z., Berry-Kravis, E., Leehey, M.A., Gane, L.W., Barbato, I., Rice, C., Gould, E., Hall, D.A. et al. (2005) Abnormal elevation of FMR1 mRNA is associated with psychological symptoms in individuals with the fragile X premutation. Am. J. Med. Genet. B Neuropsychiatr. Genet., 139B, 115-121.
-
(2005)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.139 B
, pp. 115-121
-
-
Hessl, D.1
Tassone, F.2
Loesch, D.Z.3
Berry-Kravis, E.4
Leehey, M.A.5
Gane, L.W.6
Barbato, I.7
Rice, C.8
Gould, E.9
Hall, D.A.10
-
10
-
-
33750283784
-
Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation
-
Farzin, F., Perry, H., Hessl, D., Loesch, D., Cohen, J., Bacalman, S., Gane, L., Tassone, F., Hagerman, P. and Hagerman, R. (2006) Autism spectrum disorders and attention-deficit/hyperactivity disorder in boys with the fragile X premutation. J. Dev. Behav. Pediatr., 27, S137-S144.
-
(2006)
J. Dev. Behav. Pediatr.
, vol.27
-
-
Farzin, F.1
Perry, H.2
Hessl, D.3
Loesch, D.4
Cohen, J.5
Bacalman, S.6
Gane, L.7
Tassone, F.8
Hagerman, P.9
Hagerman, R.10
-
11
-
-
33646145602
-
Lessons from fragile X regarding neurobiology, autism, and neurodegeneration
-
Hagerman, R.J. (2006) Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. J. Dev. Behav. Pediatr., 27, 63-74.
-
(2006)
J. Dev. Behav. Pediatr.
, vol.27
, pp. 63-74
-
-
Hagerman, R.J.1
-
12
-
-
33947168860
-
The FMR1 premutation and reproduction
-
Wittenberger, M.D., Hagerman, R.J., Sherman, S.L., McConkie-Rosell, A., Welt, C.K., Rebar, R.W., Corrigan, E.C., Simpson, J.L. and Nelson, L.M. (2007) The FMR1 premutation and reproduction. Fertil. Steril., 87, 456-465.
-
(2007)
Fertil. Steril.
, vol.87
, pp. 456-465
-
-
Wittenberger, M.D.1
Hagerman, R.J.2
Sherman, S.L.3
McConkie-Rosell, A.4
Welt, C.K.5
Rebar, R.W.6
Corrigan, E.C.7
Simpson, J.L.8
Nelson, L.M.9
-
13
-
-
38349061674
-
Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene
-
Amiri, K., Hagerman, R.J. and Hagerman, P.J. (2008) Fragile X-associated tremor/ataxia syndrome: an aging face of the fragile X gene. Arch. Neurol., 65, 19-25.
-
(2008)
Arch. Neurol.
, vol.65
, pp. 19-25
-
-
Amiri, K.1
Hagerman, R.J.2
Hagerman, P.J.3
-
14
-
-
69049107540
-
The FMR1 gene and fragile X-associated tremor/ataxia syndrome
-
Brouwer, J.R., Willemsen, R. and Oostra, B.A. (2009) The FMR1 gene and fragile X-associated tremor/ataxia syndrome. Am. J. Med. Genet. B Neuropsychiatr. Genet., 150B, 782-798.
-
(2009)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.150 B
, pp. 782-798
-
-
Brouwer, J.R.1
Willemsen, R.2
Oostra, B.A.3
-
15
-
-
34250869612
-
CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone, F., Adams, J., Berry-Kravis, E.M., Cohen, S.S., Brusco, A., Leehey, M.A., Li, L., Hagerman, R.J. and Hagerman, P.J. (2007) CGG repeat length correlates with age of onset of motor signs of the fragile X-associated tremor/ataxia syndrome (FXTAS). Am. J. Med. Genet. B Neuropsychiatr. Genet., 144B, 566-569.
-
(2007)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.144 B
, pp. 566-569
-
-
Tassone, F.1
Adams, J.2
Berry-Kravis, E.M.3
Cohen, S.S.4
Brusco, A.5
Leehey, M.A.6
Li, L.7
Hagerman, R.J.8
Hagerman, P.J.9
-
16
-
-
42949147652
-
Expanded clinical phenotype of women with the FMR1 premutation
-
Coffey, S.M., Cook, K., Tartaglia, N., Tassone, F., Nguyen, D.V., Pan, R., Bronsky, H.E., Yuhas, J., Borodyanskaya, M., Grigsby, J. et al. (2008) Expanded clinical phenotype of women with the FMR1 premutation. Am. J. Med. Genet. A, 146A, 1009-1016.
-
(2008)
Am. J. Med. Genet. A
, vol.146 A
, pp. 1009-1016
-
-
Coffey, S.M.1
Cook, K.2
Tartaglia, N.3
Tassone, F.4
Nguyen, D.V.5
Pan, R.6
Bronsky, H.E.7
Yuhas, J.8
Borodyanskaya, M.9
Grigsby, J.10
-
17
-
-
70349612509
-
Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families
-
epub ahead of print April
-
Rodriguez-Revenga, L., Madrigal, I., Pagonabarraga, J., Xuncla, M., Badenas, C., Kulisevsky, J., Gomez, B. and Mila, M. (2009) Penetrance of FMR1 premutation associated pathologies in fragile X syndrome families. Eur. J. Hum. Genet., epub ahead of print April, 15.
-
(2009)
Eur. J. Hum. Genet.
, pp. 15
-
-
Rodriguez-Revenga, L.1
Madrigal, I.2
Pagonabarraga, J.3
Xuncla, M.4
Badenas, C.5
Kulisevsky, J.6
Gomez, B.7
Mila, M.8
-
18
-
-
73349120934
-
Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern
-
Rodriguez-Revenga, L., Madrigal, I., Badenas, C., Xuncla, M., Jimenez, L. and Mila, M. (2009) Premature ovarian failure and fragile X female premutation carriers: no evidence for a skewed X-chromosome inactivation pattern. Menopause, 16, 944-949.
-
(2009)
Menopause
, vol.16
, pp. 944-949
-
-
Rodriguez-Revenga, L.1
Madrigal, I.2
Badenas, C.3
Xuncla, M.4
Jimenez, L.5
Mila, M.6
-
20
-
-
2342635196
-
The fragile-X premutation: a maturing perspective
-
Hagerman, P.J. and Hagerman, R.J. (2004) The fragile-X premutation: a maturing perspective. Am. J. Hum. Genet., 74, 805-816.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
21
-
-
34548209247
-
Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Adams, J.S., Adams, P.E., Nguyen, D., Brunberg, J.A., Tassone, F., Zhang, W., Koldewyn, K., Rivera, S.M., Grigsby, J., Zhang, L. et al. (2007) Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology, 69, 851-859.
-
(2007)
Neurology
, vol.69
, pp. 851-859
-
-
Adams, J.S.1
Adams, P.E.2
Nguyen, D.3
Brunberg, J.A.4
Tassone, F.5
Zhang, W.6
Koldewyn, K.7
Rivera, S.M.8
Grigsby, J.9
Zhang, L.10
-
22
-
-
12144289389
-
Aging in individuals with the FMR1 mutation
-
Jacquemont, S., Farzin, F., Hall, D., Leehey, M., Tassone, F., Gane, L., Zhang, L., Grigsby, J., Jardini, T., Lewin, F. et al. (2004) Aging in individuals with the FMR1 mutation. Am. J. Ment. Retard., 109, 154-164.
-
(2004)
Am. J. Ment. Retard.
, vol.109
, pp. 154-164
-
-
Jacquemont, S.1
Farzin, F.2
Hall, D.3
Leehey, M.4
Tassone, F.5
Gane, L.6
Zhang, L.7
Grigsby, J.8
Jardini, T.9
Lewin, F.10
-
23
-
-
23944431645
-
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone, F., Iwahashi, C. and Hagerman, P.J. (2004) FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol., 1, 103-105.
-
(2004)
RNA Biol.
, vol.1
, pp. 103-105
-
-
Tassone, F.1
Iwahashi, C.2
Hagerman, P.J.3
-
24
-
-
33846648486
-
Amygdala dysfunction in men with the fragile X premutation
-
Hessl, D., Rivera, S., Koldewyn, K., Cordeiro, L., Adams, J., Tassone, F., Hagerman, P.J. and Hagerman, R.J. (2007) Amygdala dysfunction in men with the fragile X premutation. Brain, 130, 404-416.
-
(2007)
Brain
, vol.130
, pp. 404-416
-
-
Hessl, D.1
Rivera, S.2
Koldewyn, K.3
Cordeiro, L.4
Adams, J.5
Tassone, F.6
Hagerman, P.J.7
Hagerman, R.J.8
-
25
-
-
4544387060
-
A neuropsychological investigation of male premutation carriers of fragile X syndrome
-
Moore, C.J., Daly, E.M., Schmitz, N., Tassone, F., Tysoe, C., Hagerman, R.J., Hagerman, P.J., Morris, R.G., Murphy, K.C. and Murphy, D.G. (2004) A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia, 42, 1934-1947.
-
(2004)
Neuropsychologia
, vol.42
, pp. 1934-1947
-
-
Moore, C.J.1
Daly, E.M.2
Schmitz, N.3
Tassone, F.4
Tysoe, C.5
Hagerman, R.J.6
Hagerman, P.J.7
Morris, R.G.8
Murphy, K.C.9
Murphy, D.G.10
-
26
-
-
67649151875
-
Reduced hippocampal activation during recall is associated with elevated FMR1 mRNA and psychiatric symptoms in men with the fragile X premutation
-
Koldewyn, K., Hessl, D., Adams, J., Tassone, F., Hagerman, P., Hagerman, R. and Rivera, S. (2008) Reduced hippocampal activation during recall is associated with elevated FMR1 mRNA and psychiatric symptoms in men with the fragile X premutation. Brain Imaging Behav., 2, 105-116.
-
(2008)
Brain Imaging Behav.
, vol.2
, pp. 105-116
-
-
Koldewyn, K.1
Hessl, D.2
Adams, J.3
Tassone, F.4
Hagerman, P.5
Hagerman, R.6
Rivera, S.7
-
27
-
-
44249106115
-
Age-dependent cognitive changes in carriers of the fragile X syndrome
-
Cornish, K.M., Li, L., Kogan, C.S., Jacquemont, S., Turk, J., Dalton, A., Hagerman, R.J. and Hagerman, P.J. (2008) Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex, 44, 628-636.
-
(2008)
Cortex
, vol.44
, pp. 628-636
-
-
Cornish, K.M.1
Li, L.2
Kogan, C.S.3
Jacquemont, S.4
Turk, J.5
Dalton, A.6
Hagerman, R.J.7
Hagerman, P.J.8
-
28
-
-
58849100848
-
Mood and anxiety disorders in females with the FMR1 premutation
-
Roberts, J., Bailey, D., Mankowski, J., Ford, A., Sideris, J., Weisenfeld, L., Heath, T.M. and Golden, R. (2009) Mood and anxiety disorders in females with the FMR1 premutation. Am. J. Med. Genet. B Neuropsychiatr. Genet., 150B, 130-139.
-
(2009)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.150 B
, pp. 130-139
-
-
Roberts, J.1
Bailey, D.2
Mankowski, J.3
Ford, A.4
Sideris, J.5
Weisenfeld, L.6
Heath, T.M.7
Golden, R.8
-
29
-
-
0041819618
-
Clinical features of boys with fragile X premutations and intermediate alleles
-
Aziz, M., Stathopulu, E., Callias, M., Taylor, C., Turk, J., Oostra, B., Willemsen, R. and Patton, M. (2003) Clinical features of boys with fragile X premutations and intermediate alleles. Am. J. Med. Genet. B Neuropsychiatr. Genet., 121B, 119-127.
-
(2003)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.121 B
, pp. 119-127
-
-
Aziz, M.1
Stathopulu, E.2
Callias, M.3
Taylor, C.4
Turk, J.5
Oostra, B.6
Willemsen, R.7
Patton, M.8
-
30
-
-
49449089705
-
Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey
-
Bailey, D.B. Jr, Raspa, M., Olmsted, M. and Holiday, D.B. (2008) Co-occurring conditions associated with FMR1 gene variations: findings from a national parent survey. Am. J. Med. Genet. A, 146A, 2060-2069.
-
(2008)
Am. J. Med. Genet. A
, vol.146 A
, pp. 2060-2069
-
-
Bailey D.B., Jr.1
Raspa, M.2
Olmsted, M.3
Holiday, D.B.4
-
31
-
-
46249101217
-
Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome
-
Brouwer, J.R., Severijnen, E., de Jong, F.H., Hessl, D., Hagerman, R.J., Oostra, B.A. and Willemsen, R. (2008) Altered hypothalamus-pituitary-adrenal gland axis regulation in the expanded CGG-repeat mouse model for fragile X-associated tremor/ataxia syndrome. Psychoneuroendocrinology, 33, 863-873.
-
(2008)
Psychoneuroendocrinology
, vol.33
, pp. 863-873
-
-
Brouwer, J.R.1
Severijnen, E.2
de Jong, F.H.3
Hessl, D.4
Hagerman, R.J.5
Oostra, B.A.6
Willemsen, R.7
-
32
-
-
33846002696
-
Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation
-
Brouwer, J.R., Mientjes, E.J., Bakker, C.E., Nieuwenhuizen, I.M., Severijnen, L.A., Van der Linde, H.C., Nelson, D.L., Oostra, B.A. and Willemsen, R. (2007) Elevated Fmr1 mRNA levels and reduced protein expression in a mouse model with an unmethylated fragile X full mutation. Exp. Cell Res., 313, 244-253.
-
(2007)
Exp. Cell Res.
, vol.313
, pp. 244-253
-
-
Brouwer, J.R.1
Mientjes, E.J.2
Bakker, C.E.3
Nieuwenhuizen, I.M.4
Severijnen, L.A.5
Van der Linde, H.C.6
Nelson, D.L.7
Oostra, B.A.8
Willemsen, R.9
-
33
-
-
1642394283
-
The fragile X syndrome: from molecular genetics to neurobiology
-
Willemsen, R., Oostra, B.A., Bassell, G.J. and Dictenberg, J. (2004) The fragile X syndrome: from molecular genetics to neurobiology. Ment. Retard. Dev. Disabil. Res. Rev., 10, 60-67.
-
(2004)
Ment. Retard. Dev. Disabil. Res. Rev.
, vol.10
, pp. 60-67
-
-
Willemsen, R.1
Oostra, B.A.2
Bassell, G.J.3
Dictenberg, J.4
-
34
-
-
0038025990
-
The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome
-
Willemsen, R., Hoogeveen-Westerveld, M., Reis, S., Holstege, J., Severijnen, L.A., Nieuwenhuizen, I.M., Schrier, M., van Unen, L., Tassone, F., Hoogeveen, A.T. et al. (2003) The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum. Mol. Genet., 12, 949-959.
-
(2003)
Hum. Mol. Genet.
, vol.12
, pp. 949-959
-
-
Willemsen, R.1
Hoogeveen-Westerveld, M.2
Reis, S.3
Holstege, J.4
Severijnen, L.A.5
Nieuwenhuizen, I.M.6
Schrier, M.7
van Unen, L.8
Tassone, F.9
Hoogeveen, A.T.10
-
35
-
-
74249092236
-
Mouse models of fragile X-associated tremor ataxia
-
epub ahead of print July, 1
-
Berman, R.F. and Willemsen, R. (2009) Mouse models of fragile X-associated tremor ataxia. J. Investig. Med, epub ahead of print July, 1.
-
(2009)
J. Investig. Med
-
-
Berman, R.F.1
Willemsen, R.2
-
36
-
-
20444447397
-
Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav
-
Van Dam, D., Errijgers, V., Kooy, R.F., Willemsen, R., Mientjes, E., Oostra, B.A. and De Deyn, P.P. (2005) Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav. Brain Res., 162, 233-239.
-
(2005)
Brain Res.
, vol.162
, pp. 233-239
-
-
Van Dam, D.1
Errijgers, V.2
Kooy, R.F.3
Willemsen, R.4
Mientjes, E.5
Oostra, B.A.6
De Deyn, P.P.7
-
37
-
-
0028868824
-
Serum-free B27/neurobasal medium supports differentiated growth of neurons from the striatum, substantia nigra, septum, cerebral cortex, cerebellum, and dentate gyrus
-
Brewer, G.J. (1995) Serum-free B27/neurobasal medium supports differentiated growth of neurons from the striatum, substantia nigra, septum, cerebral cortex, cerebellum, and dentate gyrus. J. Neurosci. Res., 42, 674-683.
-
(1995)
J. Neurosci. Res.
, vol.42
, pp. 674-683
-
-
Brewer, G.J.1
-
38
-
-
43449130057
-
NS21: re-defined and modified supplement B27 for neuronal cultures
-
Chen, Y., Stevens, B., Chang, J., Milbrandt, J., Barres, B.A. and Hell, J.W. (2008) NS21: re-defined and modified supplement B27 for neuronal cultures. J. Neurosci. Methods, 171, 239-247.
-
(2008)
J. Neurosci. Methods
, vol.171
, pp. 239-247
-
-
Chen, Y.1
Stevens, B.2
Chang, J.3
Milbrandt, J.4
Barres, B.A.5
Hell, J.W.6
-
39
-
-
13644252983
-
A cell-based immunocytochemical assay for monitoring kinase signaling pathways and drug efficacy
-
Chen, H., Kovar, J., Sissons, S., Cox, K., Matter, W., Chadwell, F., Luan, P., Vlahos, C.J., Schutz-Geschwender, A. and Olive, D.M. (2005) A cell-based immunocytochemical assay for monitoring kinase signaling pathways and drug efficacy. Anal. Biochem., 338, 136-142.
-
(2005)
Anal. Biochem.
, vol.338
, pp. 136-142
-
-
Chen, H.1
Kovar, J.2
Sissons, S.3
Cox, K.4
Matter, W.5
Chadwell, F.6
Luan, P.7
Vlahos, C.J.8
Schutz-Geschwender, A.9
Olive, D.M.10
-
40
-
-
33344468217
-
Production of monoclonal antibodies against Prox1
-
Chen, X., Patel, T.P., Cain, W.J. and Duncan, M.K. (2006) Production of monoclonal antibodies against Prox1. Hybridoma (Larchmt), 25, 27-33.
-
(2006)
Hybridoma (Larchmt)
, vol.25
, pp. 27-33
-
-
Chen, X.1
Patel, T.P.2
Cain, W.J.3
Duncan, M.K.4
-
41
-
-
42549151044
-
Docosahexaenoic acid synthesis from n-3 fatty acid precursors in rat hippocampal neurons
-
Kaduce, T., Chen, Y., Hell, J. and Spector, A. (2008) Docosahexaenoic acid synthesis from n-3 fatty acid precursors in rat hippocampal neurons. J. Neurochem., 105, 1525-1535.
-
(2008)
J. Neurochem.
, vol.105
, pp. 1525-1535
-
-
Kaduce, T.1
Chen, Y.2
Hell, J.3
Spector, A.4
-
42
-
-
0035136702
-
Ortho-substituted PCB95 alters intracellular calcium signaling and causes cellular acidification in PC12 cells by an immunophilin-dependent mechanism
-
Wong, P.W., Garcia, E.F. and Pessah, I.N. (2001) Ortho-substituted PCB95 alters intracellular calcium signaling and causes cellular acidification in PC12 cells by an immunophilin-dependent mechanism. J. Neurochem., 76, 450-463.
-
(2001)
J. Neurochem.
, vol.76
, pp. 450-463
-
-
Wong, P.W.1
Garcia, E.F.2
Pessah, I.N.3
-
43
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco, C.M., Hagerman, R.J., Tassone, F., Chudley, A.E., Del Bigio, M.R., Jacquemont, S., Leehey, M. and Hagerman, P.J. (2002) Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain, 125, 1760-1771.
-
(2002)
Brain
, vol.125
, pp. 1760-1771
-
-
Greco, C.M.1
Hagerman, R.J.2
Tassone, F.3
Chudley, A.E.4
Del Bigio, M.R.5
Jacquemont, S.6
Leehey, M.7
Hagerman, P.J.8
-
44
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Greco, C.M., Berman, R.F., Martin, R.M., Tassone, F., Schwartz, P.H., Chang, A., Trapp, B.D., Iwahashi, C., Brunberg, J., Grigsby, J. et al. (2006) Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain, 129, 243-255.
-
(2006)
Brain
, vol.129
, pp. 243-255
-
-
Greco, C.M.1
Berman, R.F.2
Martin, R.M.3
Tassone, F.4
Schwartz, P.H.5
Chang, A.6
Trapp, B.D.7
Iwahashi, C.8
Brunberg, J.9
Grigsby, J.10
-
45
-
-
30344441794
-
Protein composition of the intranuclear inclusions of FXTAS
-
Iwahashi, C.K., Yasui, D.H., An, H.J., Greco, C.M., Tassone, F., Nannen, K., Babineau, B., Lebrilla, C.B., Hagerman, R.J. and Hagerman, P.J. (2006) Protein composition of the intranuclear inclusions of FXTAS. Brain, 129, 256-271.
-
(2006)
Brain
, vol.129
, pp. 256-271
-
-
Iwahashi, C.K.1
Yasui, D.H.2
An, H.J.3
Greco, C.M.4
Tassone, F.5
Nannen, K.6
Babineau, B.7
Lebrilla, C.B.8
Hagerman, R.J.9
Hagerman, P.J.10
-
46
-
-
1542344372
-
X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of Rett syndrome
-
Young, J.I. and Zoghbi, H.Y. (2004) X-chromosome inactivation patterns are unbalanced and affect the phenotypic outcome in a mouse model of Rett syndrome. Am. J. Hum. Genet., 74, 511-520.
-
(2004)
Am. J. Hum. Genet.
, vol.74
, pp. 511-520
-
-
Young, J.I.1
Zoghbi, H.Y.2
-
47
-
-
67249150481
-
Ectopic expression of CGG containing mRNA is neurotoxic in mammals
-
Hashem, V., Galloway, J.N., Mori, M., Willemsen, R., Oostra, B.A., Paylor, R. and Nelson, D.L. (2009) Ectopic expression of CGG containing mRNA is neurotoxic in mammals. Hum. Mol. Genet., 18, 2443-2451.
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 2443-2451
-
-
Hashem, V.1
Galloway, J.N.2
Mori, M.3
Willemsen, R.4
Oostra, B.A.5
Paylor, R.6
Nelson, D.L.7
-
48
-
-
33646227185
-
Dendritic pathology in mental retardation: from molecular genetics to neurobiology
-
Dierssen, M. and Ramakers, G.J. (2006) Dendritic pathology in mental retardation: from molecular genetics to neurobiology. Genes Brain Behav., 5 (Suppl. 2), 48-60.
-
(2006)
Genes Brain Behav.
, vol.5
, Issue.SUPPL. 2
, pp. 48-60
-
-
Dierssen, M.1
Ramakers, G.J.2
-
49
-
-
0034721728
-
Diversity and dynamics of dendritic signaling
-
Hausser, M., Spruston, N. and Stuart, G.J. (2000) Diversity and dynamics of dendritic signaling. Science, 290, 739-744.
-
(2000)
Science
, vol.290
, pp. 739-744
-
-
Hausser, M.1
Spruston, N.2
Stuart, G.J.3
-
50
-
-
23044503253
-
Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in fragile X syndrome
-
Koekkoek, S.K., Yamaguchi, K., Milojkovic, B.A., Dortland, B.R., Ruigrok, T.J., Maex, R., De Graaf, W., Smit, A.E., VanderWerf, F., Bakker, C.E. et al. (2005) Deletion of FMR1 in Purkinje cells enhances parallel fiber LTD, enlarges spines, and attenuates cerebellar eyelid conditioning in fragile X syndrome. Neuron, 47, 339-352.
-
(2005)
Neuron
, vol.47
, pp. 339-352
-
-
Koekkoek, S.K.1
Yamaguchi, K.2
Milojkovic, B.A.3
Dortland, B.R.4
Ruigrok, T.J.5
Maex, R.6
De Graaf, W.7
Smit, A.E.8
VanderWerf, F.9
Bakker, C.E.10
-
51
-
-
44449121279
-
A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome
-
Dictenberg, J.B., Swanger, S.A., Antar, L.N., Singer, R.H. and Bassell, G.J. (2008) A direct role for FMRP in activity-dependent dendritic mRNA transport links filopodial-spine morphogenesis to fragile X syndrome. Dev. Cell, 14, 926-939.
-
(2008)
Dev. Cell
, vol.14
, pp. 926-939
-
-
Dictenberg, J.B.1
Swanger, S.A.2
Antar, L.N.3
Singer, R.H.4
Bassell, G.J.5
-
52
-
-
0033797832
-
Dendritic spine structural anomalies in fragile-X mental retardation syndrome
-
Irwin, S.A., Galvez, R. and Greenough, W.T. (2000) Dendritic spine structural anomalies in fragile-X mental retardation syndrome. Cereb. Cortex, 10, 1038-1044.
-
(2000)
Cereb. Cortex
, vol.10
, pp. 1038-1044
-
-
Irwin, S.A.1
Galvez, R.2
Greenough, W.T.3
-
53
-
-
21444456944
-
Dendritic spine abnormalities in the occipital cortex of C57BL/6 Fmr1 knockout mice
-
McKinney, B.C., Grossman, A.W., Elisseou, N.M. and Greenough, W.T. (2005) Dendritic spine abnormalities in the occipital cortex of C57BL/6 Fmr1 knockout mice. Am. J. Med. Genet. B Neuropsychiatr. Genet., 136B, 98-102.
-
(2005)
Am. J. Med. Genet. B Neuropsychiatr. Genet.
, vol.136 B
, pp. 98-102
-
-
McKinney, B.C.1
Grossman, A.W.2
Elisseou, N.M.3
Greenough, W.T.4
-
54
-
-
44949125523
-
Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice
-
de Vrij, F.M., Levenga, J., van der Linde, H.C., Koekkoek, S.K., De Zeeuw, C.I., Nelson, D.L., Oostra, B.A. and Willemsen, R. (2008) Rescue of behavioral phenotype and neuronal protrusion morphology in Fmr1 KO mice. Neurobiol. Dis., 31, 127-132.
-
(2008)
Neurobiol. Dis.
, vol.31
, pp. 127-132
-
-
de Vrij, F.M.1
Levenga, J.2
van der Linde, H.C.3
Koekkoek, S.K.4
De Zeeuw, C.I.5
Nelson, D.L.6
Oostra, B.A.7
Willemsen, R.8
-
55
-
-
34249849030
-
Regulation of CNS synapses by neuronal MHC class I
-
Goddard, C.A., Butts, D.A. and Shatz, C.J. (2007) Regulation of CNS synapses by neuronal MHC class I. Proc. Natl Acad. Sci. USA, 104, 6828-6833.
-
(2007)
Proc. Natl Acad. Sci. USA
, vol.104
, pp. 6828-6833
-
-
Goddard, C.A.1
Butts, D.A.2
Shatz, C.J.3
-
56
-
-
5444268133
-
SynGAP regulates spine formation
-
Vazquez, L.E., Chen, H.J., Sokolova, I., Knuesel, I. and Kennedy, M.B. (2004) SynGAP regulates spine formation. J. Neurosci., 24, 8862-8872.
-
(2004)
J. Neurosci.
, vol.24
, pp. 8862-8872
-
-
Vazquez, L.E.1
Chen, H.J.2
Sokolova, I.3
Knuesel, I.4
Kennedy, M.B.5
-
57
-
-
65549101751
-
Chromatin remodeling in the noncoding repeat expansion diseases
-
Kumari, D. and Usdin, K. (2009) Chromatin remodeling in the noncoding repeat expansion diseases. J. Biol. Chem., 284, 7413-7417.
-
(2009)
J. Biol. Chem.
, vol.284
, pp. 7413-7417
-
-
Kumari, D.1
Usdin, K.2
-
58
-
-
46449113997
-
The biological effects of simple tandem repeats: lessons from the repeat expansion diseases
-
Usdin, K. (2008) The biological effects of simple tandem repeats: lessons from the repeat expansion diseases. Genome Res., 18, 1011-1019.
-
(2008)
Genome Res.
, vol.18
, pp. 1011-1019
-
-
Usdin, K.1
-
59
-
-
33847761463
-
Progression of tremor and ataxia in male carriers of the FMR1 premutation
-
Leehey, M.A., Berry-Kravis, E., Min, S.J., Hall, D.A., Rice, C.D., Zhang, L., Grigsby, J., Greco, C.M., Reynolds, A., Lara, R. et al. (2007) Progression of tremor and ataxia in male carriers of the FMR1 premutation. Mov. Disord., 22, 203-206.
-
(2007)
Mov. Disord.
, vol.22
, pp. 203-206
-
-
Leehey, M.A.1
Berry-Kravis, E.2
Min, S.J.3
Hall, D.A.4
Rice, C.D.5
Zhang, L.6
Grigsby, J.7
Greco, C.M.8
Reynolds, A.9
Lara, R.10
-
60
-
-
0036846189
-
Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg, J.A., Jacquemont, S., Hagerman, R.J., Berry-Kravis, E.M., Grigsby, J., Leehey, M.A., Tassone, F., Brown, W.T., Greco, C.M. and Hagerman, P.J. (2002) Fragile X premutation carriers: characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am. J. Neuroradiol., 23, 1757-1766.
-
(2002)
AJNR Am. J. Neuroradiol.
, vol.23
, pp. 1757-1766
-
-
Brunberg, J.A.1
Jacquemont, S.2
Hagerman, R.J.3
Berry-Kravis, E.M.4
Grigsby, J.5
Leehey, M.A.6
Tassone, F.7
Brown, W.T.8
Greco, C.M.9
Hagerman, P.J.10
-
61
-
-
0037384643
-
Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates
-
Jacquemont, S., Hagerman, R.J., Leehey, M., Grigsby, J., Zhang, L., Brunberg, J.A., Greco, C., Des Portes, V., Jardini, T., Levine, R. et al. (2003) Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet., 72, 869-878.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 869-878
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.3
Grigsby, J.4
Zhang, L.5
Brunberg, J.A.6
Greco, C.7
Des Portes, V.8
Jardini, T.9
Levine, R.10
-
62
-
-
0032692501
-
Alpha-synuclein immunoisolation of glial inclusions from multiple system atrophy brain tissue reveals multiprotein components
-
Gai, W.P., Power, J.H., Blumbergs, P.C., Culvenor, J.G. and Jensen, P.H. (1999) Alpha-synuclein immunoisolation of glial inclusions from multiple system atrophy brain tissue reveals multiprotein components. J. Neurochem., 73, 2093-2100.
-
(1999)
J. Neurochem.
, vol.73
, pp. 2093-2100
-
-
Gai, W.P.1
Power, J.H.2
Blumbergs, P.C.3
Culvenor, J.G.4
Jensen, P.H.5
-
64
-
-
59449085928
-
Advances in the treatment of fragile X syndrome
-
Hagerman, R.J., Berry-Kravis, E., Kaufmann, W.E., Ono, M.Y., Tartaglia, N., Lachiewicz, A., Kronk, R., Delahunty, C., Hessl, D., Visootsak, J. et al. (2009) Advances in the treatment of fragile X syndrome. Pediatrics, 123, 378-390.
-
(2009)
Pediatrics
, vol.123
, pp. 378-390
-
-
Hagerman, R.J.1
Berry-Kravis, E.2
Kaufmann, W.E.3
Ono, M.Y.4
Tartaglia, N.5
Lachiewicz, A.6
Kronk, R.7
Delahunty, C.8
Hessl, D.9
Visootsak, J.10
-
65
-
-
0035423079
-
Instability of a (CGG)98 repeat in the Fmr1 promoter
-
Bontekoe, C.J., Bakker, C.E., Nieuwenhuizen, I.M., van der Linde, H., Lans, H., de Lange, D., Hirst, M.C. and Oostra, B.A. (2001) Instability of a (CGG)98 repeat in the Fmr1 promoter. Hum. Mol. Genet., 10, 1693-1699.
-
(2001)
Hum. Mol. Genet.
, vol.10
, pp. 1693-1699
-
-
Bontekoe, C.J.1
Bakker, C.E.2
Nieuwenhuizen, I.M.3
van der Linde, H.4
Lans, H.5
de Lange, D.6
Hirst, M.C.7
Oostra, B.A.8
-
66
-
-
1542719404
-
Disruption of the NMDA receptor-PSD-95 interaction in hippocampal neurons with no obvious physiological short-term effect
-
Lim, I.A., Merrill, M.A., Chen, Y. and Hell, J.W. (2003) Disruption of the NMDA receptor-PSD-95 interaction in hippocampal neurons with no obvious physiological short-term effect. Neuropharmacology, 45, 738-754.
-
(2003)
Neuropharmacology
, vol.45
, pp. 738-754
-
-
Lim, I.A.1
Merrill, M.A.2
Chen, Y.3
Hell, J.W.4
-
67
-
-
69249084981
-
A quantitative ELISA assay for the fragile X mental retardation 1 protein
-
Iwahashi, C., Tassone, F., Hagerman, R.J., Yasui, D., Parrott, G., Nguyen, D., Mayeur, G. and Hagerman, P.J. (2009) A quantitative ELISA assay for the fragile X mental retardation 1 protein. J. Mol. Diagn., 11, 281-289.
-
(2009)
J. Mol. Diagn.
, vol.11
, pp. 281-289
-
-
Iwahashi, C.1
Tassone, F.2
Hagerman, R.J.3
Yasui, D.4
Parrott, G.5
Nguyen, D.6
Mayeur, G.7
Hagerman, P.J.8
-
68
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome
-
Tassone, F., Hagerman, R.J., Taylor, A.K., Gane, L.W., Godfrey, T.E. and Hagerman, P.J. (2000) Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am. J. Hum. Genet., 66, 6-15.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Gane, L.W.4
Godfrey, T.E.5
Hagerman, P.J.6
|