-
1
-
-
0033612144
-
FMRP expression as a potential prognostic indicator in fragile X syndrome
-
Tassone F., Hagerman R.J., Iklé D.N., Dyer P.N., Lampe M., Willemsen R., Oostra B.A., Taylor A.K. FMRP expression as a potential prognostic indicator in fragile X syndrome. Am. J. Med. Genet. 1999, 84:250-261.
-
(1999)
Am. J. Med. Genet
, vol.84
, pp. 250-261
-
-
Tassone, F.1
Hagerman, R.J.2
Iklé, D.N.3
Dyer, P.N.4
Lampe, M.5
Willemsen, R.6
Oostra, B.A.7
Taylor, A.K.8
-
2
-
-
0001966753
-
Physical and behavioral phenotype
-
Johns Hopkins Univ. Press, Baltimore, R.J. Hagerman, P.J. Hagerman (Eds.)
-
Hagerman R.J. Physical and behavioral phenotype. Fragile X Syndrome: Diagnosis, Treatment and Research 2002, 3-109. Johns Hopkins Univ. Press, Baltimore. 3rd ed. R.J. Hagerman, P.J. Hagerman (Eds.).
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment and Research
, pp. 3-109
-
-
Hagerman, R.J.1
-
3
-
-
0033515496
-
Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X Study-preliminary data
-
Allingham-Hawkins D.J., Babul-Hirji R., Chitayat D., Holden J.J., Yang K.T., Lee C., Hudson R., Gorwill H., Nolin S.L., Glicksman A., Jenkins E.C., Brown W.T., Howard-Peebles P.N., Becchi C., Cummings E., Fallon L., Seitz S., Black S.H., Vianna-Morgante A.M., Costa S.S., Otto P.A., Mingroni-Netto R.C., Murray A., Webb J., Vieri F., et al. Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X Study-preliminary data. Am. J. Med. Genet. 1999, 83:322-325.
-
(1999)
Am. J. Med. Genet
, vol.83
, pp. 322-325
-
-
Allingham-Hawkins, D.J.1
Babul-Hirji, R.2
Chitayat, D.3
Holden, J.J.4
Yang, K.T.5
Lee, C.6
Hudson, R.7
Gorwill, H.8
Nolin, S.L.9
Glicksman, A.10
Jenkins, E.C.11
Brown, W.T.12
Howard-Peebles, P.N.13
Becchi, C.14
Cummings, E.15
Fallon, L.16
Seitz, S.17
Black, S.H.18
Vianna-Morgante, A.M.19
Costa, S.S.20
Otto, P.A.21
Mingroni-Netto, R.C.22
Murray, A.23
Webb, J.24
Vieri, F.25
more..
-
4
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman R.J., Leehey M., Heinrichs W., Tassone F., Wilson R., Hills J., Grigsby J., Gage B., Hagerman P.J. Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 2001, 57:127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.J.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.J.9
-
5
-
-
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., Berry-Kravis E., Brown W.T., Schaeffer S., Kissel J., Tassone F., Hagerman P.J. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet. 2003, 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
Berry-Kravis, E.11
Brown, W.T.12
Schaeffer, S.13
Kissel, J.14
Tassone, F.15
Hagerman, P.J.16
-
6
-
-
0034016083
-
Clinical involvement and protein expression in individuals with the FMR1 premutation
-
Tassone F., Hagerman R.J., Taylor A.K., Mills J.B., Harris S.W., Gane L.W., Hagerman P.J. Clinical involvement and protein expression in individuals with the FMR1 premutation. Am. J. Med. Genet. 2000, 91:144-152.
-
(2000)
Am. J. Med. Genet
, vol.91
, pp. 144-152
-
-
Tassone, F.1
Hagerman, R.J.2
Taylor, A.K.3
Mills, J.B.4
Harris, S.W.5
Gane, L.W.6
Hagerman, P.J.7
-
7
-
-
12744260103
-
Autistic spectrum disorder and the fragile X premutation
-
Goodlin-Jones B., Tassone F., Gane L.W., Hagerman R.J. Autistic spectrum disorder and the fragile X premutation. J. Dev. Behav. Pediatr. 2004, 25:392-398.
-
(2004)
J. Dev. Behav. Pediatr
, vol.25
, pp. 392-398
-
-
Goodlin-Jones, B.1
Tassone, F.2
Gane, L.W.3
Hagerman, R.J.4
-
8
-
-
84882533950
-
Lessons from fragile X regarding neurobiology, autism, and neurodegeneration
-
Hagerman R.J. Lessons from fragile X regarding neurobiology, autism, and neurodegeneration. J. Dev. Behav. Pediatr. 2005, in press.
-
(2005)
J. Dev. Behav. Pediatr
-
-
Hagerman, R.J.1
-
9
-
-
19144366486
-
Mental status of females with an FMR1 gene full mutation
-
de Vries B.B., Wiegers A.M., Smits A.P., Mohkamsing S., Duivenvoorden H.J., Fryns J.P., Curfs L.M., Halley D.J., Oostra B.A., van den Ouweland A.M., Niermeijer M.F. Mental status of females with an FMR1 gene full mutation. Am. J. Med. Genet. 1996, 1025-1032.
-
(1996)
Am. J. Med. Genet
, pp. 1025-1032
-
-
de Vries, B.B.1
Wiegers, A.M.2
Smits, A.P.3
Mohkamsing, S.4
Duivenvoorden, H.J.5
Fryns, J.P.6
Curfs, L.M.7
Halley, D.J.8
Oostra, B.A.9
van den Ouweland, A.M.10
Niermeijer, M.F.11
-
10
-
-
0011726601
-
Neuropsychology
-
Johns Hopkins Univ. Press, Baltimore, R.J. Hagerman, P.J. Hagerman (Eds.)
-
Bennetto L., Pennington B.F. Neuropsychology. Fragile X Syndrome: Diagnosis, Treatment and Research 2002, 206-298. Johns Hopkins Univ. Press, Baltimore. 3rd ed. R.J. Hagerman, P.J. Hagerman (Eds.).
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment and Research
, pp. 206-298
-
-
Bennetto, L.1
Pennington, B.F.2
-
11
-
-
0027511297
-
Psychiatric disorders associated with fragile X in the young female
-
Freund L.S., Reiss A.L., Abrams M.T. Psychiatric disorders associated with fragile X in the young female. Pediatrics 1993, 91:321-329.
-
(1993)
Pediatrics
, vol.91
, pp. 321-329
-
-
Freund, L.S.1
Reiss, A.L.2
Abrams, M.T.3
-
12
-
-
0029896683
-
Molecular-clinical correlations in females with fragile X
-
Sobesky W.E., Taylor A.K., Pennington B.F., Bennetto L., Porter D., Riddle J., Hagerman R.J. Molecular-clinical correlations in females with fragile X. Am. J. Med. Genet. 1996, 64:340-345.
-
(1996)
Am. J. Med. Genet
, vol.64
, pp. 340-345
-
-
Sobesky, W.E.1
Taylor, A.K.2
Pennington, B.F.3
Bennetto, L.4
Porter, D.5
Riddle, J.6
Hagerman, R.J.7
-
13
-
-
0033515582
-
Fragile X syndrome and selective mutism
-
Hagerman R.J., Hills J., Scharfenaker S., Lewis H. Fragile X syndrome and selective mutism. Am. J. Med. Genet. 1999, 83:313-317.
-
(1999)
Am. J. Med. Genet
, vol.83
, pp. 313-317
-
-
Hagerman, R.J.1
Hills, J.2
Scharfenaker, S.3
Lewis, H.4
-
14
-
-
0028264043
-
High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression
-
Hagerman R.J., Hull C.E., Safanda J.F., Carpenter I., Staley L.W., Ra O.C., Seydel C., Mazzocco M.M., Snow K., Thibodeau S.N., et al. High functioning fragile X males: Demonstration of an unmethylated fully expanded FMR-1 mutation associated with protein expression. Am. J. Med. Genet. 1994, 51:298-308.
-
(1994)
Am. J. Med. Genet
, vol.51
, pp. 298-308
-
-
Hagerman, R.J.1
Hull, C.E.2
Safanda, J.F.3
Carpenter, I.4
Staley, L.W.5
Ra, O.C.6
Seydel, C.7
Mazzocco, M.M.8
Snow, K.9
Thibodeau, S.N.10
-
15
-
-
0034256980
-
A neuropsychological profile of attention deficits in young males with fragile X syndrome
-
Munir F., Cornish K.M., Wilding J. A neuropsychological profile of attention deficits in young males with fragile X syndrome. Neuropsychologia 2000, 38:1261-1270.
-
(2000)
Neuropsychologia
, vol.38
, pp. 1261-1270
-
-
Munir, F.1
Cornish, K.M.2
Wilding, J.3
-
16
-
-
4444236954
-
Annotation: Deconstructing the attention deficit in fragile X syndrome: A developmental neuropsychological approach
-
Cornish K.M., Turk J., Wilding J., Sudhalter V., Murir F., Kooy F., Hagerman R. Annotation: Deconstructing the attention deficit in fragile X syndrome: A developmental neuropsychological approach. J. Child. Psychol. Psychiatry 2004, 45:1042-1053.
-
(2004)
J. Child. Psychol. Psychiatry
, vol.45
, pp. 1042-1053
-
-
Cornish, K.M.1
Turk, J.2
Wilding, J.3
Sudhalter, V.4
Murir, F.5
Kooy, F.6
Hagerman, R.7
-
17
-
-
0029895568
-
Molecular-clinical correlations in males with an expanded FMR1 mutation
-
Merenstein S.A., Sobesky W.E., Taylor A.K., Riddle J.E., Tran H.X., Hagerman R.J. Molecular-clinical correlations in males with an expanded FMR1 mutation. Am. J. Med. Genet. 1996, 64:388-394.
-
(1996)
Am. J. Med. Genet
, vol.64
, pp. 388-394
-
-
Merenstein, S.A.1
Sobesky, W.E.2
Taylor, A.K.3
Riddle, J.E.4
Tran, H.X.5
Hagerman, R.J.6
-
19
-
-
17544386437
-
Rapid antibody test for diagnosing fragile X syndrome: A validation of the technique
-
Willemsen R., Smits A., Mohkamsing S., van Beerendonk H., de Haan A., de Vries B., van den Ouweland A., Sistermans E., Galjaard H., Oostra B.A. Rapid antibody test for diagnosing fragile X syndrome: A validation of the technique. Hum. Genet. 1997, 99:308-311.
-
(1997)
Hum. Genet
, vol.99
, pp. 308-311
-
-
Willemsen, R.1
Smits, A.2
Mohkamsing, S.3
van Beerendonk, H.4
de Haan, A.5
de Vries, B.6
van den Ouweland, A.7
Sistermans, E.8
Galjaard, H.9
Oostra, B.A.10
-
20
-
-
0038162524
-
Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective
-
Loesch D.Z., Huggins R.M., Bui Q.M., Taylor A.K., Hagerman R.J. Relationship of deficits of FMR1 gene specific protein with physical phenotype of fragile X males and females in pedigrees: A new perspective. Am. J. Med. Genet. 2003, 118A:127-134.
-
(2003)
Am. J. Med. Genet
, vol.118 A
, pp. 127-134
-
-
Loesch, D.Z.1
Huggins, R.M.2
Bui, Q.M.3
Taylor, A.K.4
Hagerman, R.J.5
-
21
-
-
0035321892
-
Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome
-
Bailey D.B., Hatton D.D., Skinner M., Mesibov G.B. Autistic behavior, FMR1 protein, and developmental trajectories in young males with fragile X syndrome. J. Autism Dev. Disord. 2001, 31:165-174.
-
(2001)
J. Autism Dev. Disord
, vol.31
, pp. 165-174
-
-
Bailey, D.B.1
Hatton, D.D.2
Skinner, M.3
Mesibov, G.B.4
-
22
-
-
0035675794
-
The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders
-
Rogers S.J., Wehner E.A., Hagerman R.J. The behavioral phenotype in fragile X: Symptoms of autism in very young children with fragile X syndrome, idiopathic autism, and other developmental disorders. J. Dev. Behav. Pediatr. 2001, 22:409-417.
-
(2001)
J. Dev. Behav. Pediatr
, vol.22
, pp. 409-417
-
-
Rogers, S.J.1
Wehner, E.A.2
Hagerman, R.J.3
-
23
-
-
4444322917
-
Austism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors
-
Kaufmann W.E., Cortell R., Kau A.S., Bukelis I., Tierney E., Gray R.M., Cox C., Capone G.T., Stanard P. Austism spectrum disorder in fragile X syndrome: Communication, social interaction, and specific behaviors. Am. J. Med. Genet. 2004, 129A:225-234.
-
(2004)
Am. J. Med. Genet
, vol.129 A
, pp. 225-234
-
-
Kaufmann, W.E.1
Cortell, R.2
Kau, A.S.3
Bukelis, I.4
Tierney, E.5
Gray, R.M.6
Cox, C.7
Capone, G.T.8
Stanard, P.9
-
24
-
-
11144354650
-
Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome
-
Philofsky A., Hepburn S.L., Hayes A., Hagerman R.J., Rogers S.J. Linguistic and cognitive functioning and autism symptoms in young children with fragile X syndrome. Am. J. Ment. Retard. 2004, 109:208-218.
-
(2004)
Am. J. Ment. Retard
, vol.109
, pp. 208-218
-
-
Philofsky, A.1
Hepburn, S.L.2
Hayes, A.3
Hagerman, R.J.4
Rogers, S.J.5
-
25
-
-
0003275023
-
Academic interventions in fragile X
-
Johns Hopkins Univ. Press, Baltimore, R.J. Hagerman, P.J. Hagerman (Eds.)
-
Braden M. Academic interventions in fragile X. Fragile X Syndrome: Diagnosis, Treatment and Research 2002, 428-464. Johns Hopkins Univ. Press, Baltimore. 3rd ed. R.J. Hagerman, P.J. Hagerman (Eds.).
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment and Research
, pp. 428-464
-
-
Braden, M.1
-
26
-
-
0026057786
-
Syntactic delay and pragmatic deviance in the language of fragile X males
-
Sudhalter V., Scarborough H.S., Cohen I.L. Syntactic delay and pragmatic deviance in the language of fragile X males. Am. J. Med. Genet. 1991, 38:493-497.
-
(1991)
Am. J. Med. Genet
, vol.38
, pp. 493-497
-
-
Sudhalter, V.1
Scarborough, H.S.2
Cohen, I.L.3
-
27
-
-
0003143334
-
Medical follow-up and pharmacotherapy
-
Johns Hopkins Univ. Press, Baltimore, R.J. Hagerman, P.J. Hagerman (Eds.)
-
Hagerman R.J. Medical follow-up and pharmacotherapy. Fragile X Syndrome: Diagnosis, Treatment and Research 2002, 287-338. Johns Hopkins Univ. Press, Baltimore. 3rd ed. R.J. Hagerman, P.J. Hagerman (Eds.).
-
(2002)
Fragile X Syndrome: Diagnosis, Treatment and Research
, pp. 287-338
-
-
Hagerman, R.J.1
-
28
-
-
0028237294
-
Transmitting males and carrier females in fragile X-revisited
-
Loesch D.Z., Hay D.A., Mulley J. Transmitting males and carrier females in fragile X-revisited. Am. J. Med. Genet. 1994, 51:392-399.
-
(1994)
Am. J. Med. Genet
, vol.51
, pp. 392-399
-
-
Loesch, D.Z.1
Hay, D.A.2
Mulley, J.3
-
29
-
-
0029899583
-
Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?
-
Franke P., Maier W., Hautzinger M., Weiffenbach O., Gansicke M., Iwers B., Poustka F., Schwab S.G., Froster U. Fragile-X carrier females: Evidence for a distinct psychopathological phenotype?. Am. J. Med. Genet. 1996, 64:334-339.
-
(1996)
Am. J. Med. Genet
, vol.64
, pp. 334-339
-
-
Franke, P.1
Maier, W.2
Hautzinger, M.3
Weiffenbach, O.4
Gansicke, M.5
Iwers, B.6
Poustka, F.7
Schwab, S.G.8
Froster, U.9
-
30
-
-
0032541268
-
Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1
-
Franke P., Leboyer M., Gansicke M., Weiffenbach O., Biancalana V., Cornillet-Lefebre P., Croquette M.F., Froster U., Schwab S.G., Poustka F., Hautzinger M., Maier W. Genotype-phenotype relationship in female carriers of the premutation and full mutation of FMR-1. Psychiatry Res. 1998, 80:113-127.
-
(1998)
Psychiatry Res
, vol.80
, pp. 113-127
-
-
Franke, P.1
Leboyer, M.2
Gansicke, M.3
Weiffenbach, O.4
Biancalana, V.5
Cornillet-Lefebre, P.6
Croquette, M.F.7
Froster, U.8
Schwab, S.G.9
Poustka, F.10
Hautzinger, M.11
Maier, W.12
-
31
-
-
0031978146
-
Phenotypic involvement in females with the FMR1 gene mutation
-
Riddle J.E., Cheema A., Sobesky W.E., Gardner S.C., Taylor A.K., Pennington B.F., Hagerman R.J. Phenotypic involvement in females with the FMR1 gene mutation. Am. J. Ment. Retard. 1998, 102:590-601.
-
(1998)
Am. J. Ment. Retard
, vol.102
, pp. 590-601
-
-
Riddle, J.E.1
Cheema, A.2
Sobesky, W.E.3
Gardner, S.C.4
Taylor, A.K.5
Pennington, B.F.6
Hagerman, R.J.7
-
32
-
-
0242467602
-
Effect of the fragile X status categories and the FMRP levels on executive functioning in fragile X males and females
-
Loesch D.Z., Bui M.Q., Grigsby J., Butler E., Epstein J., Huggins R.M., Taylor A., Hagerman R.J. Effect of the fragile X status categories and the FMRP levels on executive functioning in fragile X males and females. Neuropsychology 2003, 17:646-657.
-
(2003)
Neuropsychology
, vol.17
, pp. 646-657
-
-
Loesch, D.Z.1
Bui, M.Q.2
Grigsby, J.3
Butler, E.4
Epstein, J.5
Huggins, R.M.6
Taylor, A.7
Hagerman, R.J.8
-
33
-
-
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., Murphy D.G. A neuropsychological investigation of male premutation carriers of fragile X syndrome. Neuropsychologia 2004, 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
-
34
-
-
4544347583
-
The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy
-
Moore C.J., Daly E.M., Tassone F., Tysoe C., Schmitz N., Ng V., Chitnis X., McGuire P., Suckling J., Davies K.E., Hagerman R.J., Hagerman P.J., Murphy K.C., Murphy D.G. The effect of pre-mutation of X chromosome CGG trinucleotide repeats on brain anatomy. Brain 2004, 127:2672-2681.
-
(2004)
Brain
, vol.127
, pp. 2672-2681
-
-
Moore, C.J.1
Daly, E.M.2
Tassone, F.3
Tysoe, C.4
Schmitz, N.5
Ng, V.6
Chitnis, X.7
McGuire, P.8
Suckling, J.9
Davies, K.E.10
Hagerman, R.J.11
Hagerman, P.J.12
Murphy, K.C.13
Murphy, D.G.14
-
35
-
-
13044266376
-
Premulation female carriers of fragile X syndrome: A pilot study on brain anatomy and metabolism
-
Murphy D.G.M., Mentis M.J., Pietrini P., Grady C.L., Moore C.J., Horwitz B., Hinton V., Dobkin C.S., Schapiro M.B., Rapoport S.I. Premulation female carriers of fragile X syndrome: A pilot study on brain anatomy and metabolism. J. Am. Acad. Child Adolesc. Psychiatry 1999, 38:1294-1301.
-
(1999)
J. Am. Acad. Child Adolesc. Psychiatry
, vol.38
, pp. 1294-1301
-
-
Murphy, D.G.M.1
Mentis, M.J.2
Pietrini, P.3
Grady, C.L.4
Moore, C.J.5
Horwitz, B.6
Hinton, V.7
Dobkin, C.S.8
Schapiro, M.B.9
Rapoport, S.I.10
-
36
-
-
11144293459
-
The emerging fragile X premutation phenotype: Evidence from the domain of social cognition
-
Cornish K.M., Kogan C., Turk J., Manly T., James N., Mills A., Dalton A. The emerging fragile X premutation phenotype: Evidence from the domain of social cognition. Brain Cogn. 2005, 57:53-60.
-
(2005)
Brain Cogn
, vol.57
, pp. 53-60
-
-
Cornish, K.M.1
Kogan, C.2
Turk, J.3
Manly, T.4
James, N.5
Mills, A.6
Dalton, A.7
-
38
-
-
0030054149
-
Learning-disabled males with a fragile X CGG expansion in the upper premutation size range
-
Hagerman R.J., Staley L.W., O'Connor R., Lugenbeel K., Nelson D., McLean S.D., Taylor A. Learning-disabled males with a fragile X CGG expansion in the upper premutation size range. Pediatrics 1996, 97:122-126.
-
(1996)
Pediatrics
, vol.97
, pp. 122-126
-
-
Hagerman, R.J.1
Staley, L.W.2
O'Connor, R.3
Lugenbeel, K.4
Nelson, D.5
McLean, S.D.6
Taylor, A.7
-
39
-
-
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., Patton M. Clinical features of boys with fragile X premutations and intermediate alleles. Am. J. Med. Genet. B 2003, 121:119-127.
-
(2003)
Am. J. Med. Genet. B
, vol.121
, 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
-
40
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in fragile X syndrome
-
Tassone F., Hagerman R.J., Taylor A.K., Gane L.W., Godfrey T.E., Hagerman P.J. Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in fragile X syndrome. Am. J. Hum. Genet. 2000, 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
-
41
-
-
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., Berry-Kravis E., Brown W.T., Schaeffer S., Kissel J., Tassone F., Hagerman P.J. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genetics. 2003, 72:869-878.
-
(2003)
Am. J. Hum. Genetics
, 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
Berry-Kravis, E.11
Brown, W.T.12
Schaeffer, S.13
Kissel, J.14
Tassone, F.15
Hagerman, P.J.16
-
42
-
-
0036591683
-
The fragile X premutation: Into the phenotypic fold
-
Hagerman R.J., Hagerman P.J. The fragile X premutation: Into the phenotypic fold. Curr. Opin. Genet. Dev. 2002, 12:278-283.
-
(2002)
Curr. Opin. Genet. Dev
, vol.12
, pp. 278-283
-
-
Hagerman, R.J.1
Hagerman, P.J.2
-
43
-
-
0035500835
-
Neurobehavioral phenotype in carriers of the fragile X premutation
-
Johnston C., Eliez S., Dyer-Friedman J., Hessl D., Glaser B., Blasey C., Taylor A., Reiss A. Neurobehavioral phenotype in carriers of the fragile X premutation. Am. J. Med. Genet. 2001, 103:314-319.
-
(2001)
Am. J. Med. Genet
, vol.103
, pp. 314-319
-
-
Johnston, C.1
Eliez, S.2
Dyer-Friedman, J.3
Hessl, D.4
Glaser, B.5
Blasey, C.6
Taylor, A.7
Reiss, A.8
-
44
-
-
0034526068
-
Transcription of the FMR1 gene in individuals with fragile X syndrome
-
Tassone F., Hagerman R.J., Chamberlain W.D., Hagerman P.J. Transcription of the FMR1 gene in individuals with fragile X syndrome. Am. J. Med. Genet. (Semin. Med. Genet.) 2000, 97:195-203.
-
(2000)
Am. J. Med. Genet. (Semin. Med. Genet.)
, vol.97
, pp. 195-203
-
-
Tassone, F.1
Hagerman, R.J.2
Chamberlain, W.D.3
Hagerman, P.J.4
-
45
-
-
0035394437
-
Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediatelength and premutation carriers
-
Kenneson A., Zhang F., Hagedorn C.H., Warren S.T. Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediatelength and premutation carriers. Hum. Mol. Genet. 2001, 10:1449-1454.
-
(2001)
Hum. Mol. Genet
, vol.10
, pp. 1449-1454
-
-
Kenneson, A.1
Zhang, F.2
Hagedorn, C.H.3
Warren, S.T.4
-
46
-
-
0025967195
-
Heterozygous fragile X female: Historial, physical, cognitive, and cytogenetic features
-
Cronister A., Schreiner R., Wittenberger M., Amiri K., Harris K., Hagerman R.J. Heterozygous fragile X female: Historial, physical, cognitive, and cytogenetic features. Am. J. Med. Genet. 1991, 38:269-274.
-
(1991)
Am. J. Med. Genet
, vol.38
, pp. 269-274
-
-
Cronister, A.1
Schreiner, R.2
Wittenberger, M.3
Amiri, K.4
Harris, K.5
Hagerman, R.J.6
-
47
-
-
0028237295
-
Obstetrical and gynecological complications in fragile X carriers: A multicenter study
-
Schwartz C.E., Dean J., Howard Peebles P.N., Bugge M., Mikkelsen M., Tommerup N., Hull C., Hagerman R., Holden J.J., Stevenson R.E. Obstetrical and gynecological complications in fragile X carriers: A multicenter study. Am. J. Med. Genet. 1994, 51:400-402.
-
(1994)
Am. J. Med. Genet
, vol.51
, pp. 400-402
-
-
Schwartz, C.E.1
Dean, J.2
Howard Peebles, P.N.3
Bugge, M.4
Mikkelsen, M.5
Tommerup, N.6
Hull, C.7
Hagerman, R.8
Holden, J.J.9
Stevenson, R.E.10
-
48
-
-
0031857007
-
Studies of FRAXA and FRAXE in women with premature ovarian failure
-
Murray A., Webb J., Grimley S., Conway G., Jacobs P. Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet. 1998, 35:637-640.
-
(1998)
J. Med. Genet
, vol.35
, pp. 637-640
-
-
Murray, A.1
Webb, J.2
Grimley, S.3
Conway, G.4
Jacobs, P.5
-
49
-
-
0033982829
-
Association between idiopathic premature ovarian failure and fragile X premutation
-
Marozzi A., Vegetti W., Manfredini E., Tibiletti M.G., Testa G., Crosignani P.G., Ginelli E., Meneveri R., Dalpra L. Association between idiopathic premature ovarian failure and fragile X premutation. Hum. Reprod. 2000, 15:197-202.
-
(2000)
Hum. Reprod
, vol.15
, pp. 197-202
-
-
Marozzi, A.1
Vegetti, W.2
Manfredini, E.3
Tibiletti, M.G.4
Testa, G.5
Crosignani, P.G.6
Ginelli, E.7
Meneveri, R.8
Dalpra, L.9
-
50
-
-
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., Hagerman P.J. Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Am. J. Neuroradiol. 2002, 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
-
51
-
-
0038754166
-
Tremor and ataxia in fragile X premutation carriers: Blinded videotape study
-
Berry-Kravis E., Lewin F., Wuu J., Leehey M., Hagerman R., Hagerman P., Goetz C.G. Tremor and ataxia in fragile X premutation carriers: Blinded videotape study. Ann. Neurol. 2003, 53:616-623.
-
(2003)
Ann. Neurol
, vol.53
, pp. 616-623
-
-
Berry-Kravis, E.1
Lewin, F.2
Wuu, J.3
Leehey, M.4
Hagerman, R.5
Hagerman, P.6
Goetz, C.G.7
-
52
-
-
0037229944
-
The fragile X premutation presenting as essential tremor
-
Leehey M.A., Munhoz R.P., Lang A.E., Brunberg J.A., Grigsby J., Greco C., Jacquemont S., Tassone F., Lozano A.M., Hagerman P.J., Hagerman R.J. The fragile X premutation presenting as essential tremor. Arch. Neurol. 2003, 60:117-121.
-
(2003)
Arch. Neurol
, vol.60
, pp. 117-121
-
-
Leehey, M.A.1
Munhoz, R.P.2
Lang, A.E.3
Brunberg, J.A.4
Grigsby, J.5
Greco, C.6
Jacquemont, S.7
Tassone, F.8
Lozano, A.M.9
Hagerman, P.J.10
Hagerman, R.J.11
-
53
-
-
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., Berry-Kravis E., Hagerman P.J., Hagerman R.J. Aging in individuals with the FMR1 mutation. Am. J. Ment. Retard. 2004, 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
Berry-Kravis, E.11
Hagerman, P.J.12
Hagerman, R.J.13
-
54
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont S., Hagerman R.J., Leehey M.A., Hall D.A., Levine R.A., Brunberg J.A., Zhang L., Jardini T., Gane L.W., Harris S.W., Herman K., Grigsby J., Greco C.M., Berry-Kravis E., Tassone F., Hagerman P.J. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 2004, 291:460-469.
-
(2004)
JAMA
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.J.2
Leehey, M.A.3
Hall, D.A.4
Levine, R.A.5
Brunberg, J.A.6
Zhang, L.7
Jardini, T.8
Gane, L.W.9
Harris, S.W.10
Herman, K.11
Grigsby, J.12
Greco, C.M.13
Berry-Kravis, E.14
Tassone, F.15
Hagerman, P.J.16
-
55
-
-
2342635196
-
The fragile-X premutation: A maturing perspective
-
[Epub 2004 Mar 2029.]
-
Hagerman P.J., Hagerman R.J. The fragile-X premutation: A maturing perspective. Am. J. Hum. Genet. 2004, 74:805-816. [Epub 2004 Mar 2029.].
-
(2004)
Am. J. Hum. Genet
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
56
-
-
11144233958
-
Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation
-
Berry-Kravis E., Potanos K., Weinberg D., Zhou L., Goetz C.G. Fragile X-associated tremor/ataxia syndrome in sisters related to X-inactivation. Ann. Neurol. 2005, 57:144-147.
-
(2005)
Ann. Neurol
, vol.57
, pp. 144-147
-
-
Berry-Kravis, E.1
Potanos, K.2
Weinberg, D.3
Zhou, L.4
Goetz, C.G.5
-
57
-
-
23944455582
-
Spastic paraparesis, cerebellar ataxia, and intention tremor: A severe variant of FXTAS?
-
e14
-
Jacquemont S., Orrico A., Galli L., Sahota P.K., Brunberg J.A., Anichini C., Leehey M., Schaeffer S., Hagerman R.J., Hagerman P.J., Tassone F. Spastic paraparesis, cerebellar ataxia, and intention tremor: A severe variant of FXTAS?. J. Med. Genet. 2005, 42. e14.
-
(2005)
J. Med. Genet
, vol.42
-
-
Jacquemont, S.1
Orrico, A.2
Galli, L.3
Sahota, P.K.4
Brunberg, J.A.5
Anichini, C.6
Leehey, M.7
Schaeffer, S.8
Hagerman, R.J.9
Hagerman, P.J.10
Tassone, F.11
-
58
-
-
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., Hagerman P.J. Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers. Brain 2002, 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
-
59
-
-
30344473617
-
Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Epub 2005 Dec 2005
-
Greco C.M., Berman R.F., Martin R.M., Tassone F., Schwortz P.H., Chang A., Trapp B.D., Iwahashi C., Brunberg J., Grigsby J., Hessi D., Becker E.J., Papazian J., Leehey M.A., Hagerman R.J., Hagerman P.J. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006, 129:243-255. Epub 2005 Dec 2005.
-
(2006)
Brain
, vol.129
, pp. 243-255
-
-
Greco, C.M.1
Berman, R.F.2
Martin, R.M.3
Tassone, F.4
Schwortz, P.H.5
Chang, A.6
Trapp, B.D.7
Iwahashi, C.8
Brunberg, J.9
Grigsby, J.10
Hessi, D.11
Becker, E.J.12
Papazian, J.13
Leehey, M.A.14
Hagerman, R.J.15
Hagerman, P.J.16
-
60
-
-
32244440359
-
Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia
-
Bacalman S., Farzin F., Bourgeois J., Cogswell J., Goodlin-Jones B., Gane L.W., Grigsby J., Leehey M., Tassone F., Hagerman R.J. Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia. J. Clin. Psychiatry 2005, 67:87-94.
-
(2005)
J. Clin. Psychiatry
, vol.67
, pp. 87-94
-
-
Bacalman, S.1
Farzin, F.2
Bourgeois, J.3
Cogswell, J.4
Goodlin-Jones, B.5
Gane, L.W.6
Grigsby, J.7
Leehey, M.8
Tassone, F.9
Hagerman, R.J.10
-
61
-
-
0037084852
-
Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles
-
Dombrowski C., Levesque S., Morel M.L., Rouillard P., Morgan K., Rousseau F. Premutation and intermediate-size FMR1 alleles in 10572 males from the general population: Loss of an AGG interruption is a late event in the generation of fragile X syndrome alleles. Hum. Mol. Genet. 2002, 11:371-378.
-
(2002)
Hum. Mol. Genet
, vol.11
, pp. 371-378
-
-
Dombrowski, C.1
Levesque, S.2
Morel, M.L.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
62
-
-
0037320928
-
Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles
-
Nolin S.L., Brown W.T., Glicksman A., Houck G.E., Gargano A.D., Sullivan A., Biancalana V., Brondum-Nielsen K., Hjalgrim H., Holinski-Feder E., Kooy F., Longshore J., Macpherson J., Mandel J.L., Matthijs G., Rousseau F., Steinbach P., Vaisanen M.L., von Koskull H., Sherman S.L. Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Am. J. Hum. Genet. 2003, 72:454-464.
-
(2003)
Am. J. Hum. Genet
, vol.72
, pp. 454-464
-
-
Nolin, S.L.1
Brown, W.T.2
Glicksman, A.3
Houck, G.E.4
Gargano, A.D.5
Sullivan, A.6
Biancalana, V.7
Brondum-Nielsen, K.8
Hjalgrim, H.9
Holinski-Feder, E.10
Kooy, F.11
Longshore, J.12
Macpherson, J.13
Mandel, J.L.14
Matthijs, G.15
Rousseau, F.16
Steinbach, P.17
Vaisanen, M.L.18
von Koskull, H.19
Sherman, S.L.20
more..
-
63
-
-
2342453253
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
-
[Epub 2004 Apr 1052.]
-
Hagerman R.J., Leavitt B.R., Farzin F., Jacquemont S., Greco C.M., Brunberg J.A., Tassone F., Hessl D., Harris S.W., Zhang L., Jardini T., Gane L.W., Ferranti J., Ruiz L., Leehey M.A., Grigsby J., Hagerman P.J. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am. J. Hum. Genet. 2004, 74:1051-1056. [Epub 2004 Apr 1052.].
-
(2004)
Am. J. Hum. Genet
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.J.1
Leavitt, B.R.2
Farzin, F.3
Jacquemont, S.4
Greco, C.M.5
Brunberg, J.A.6
Tassone, F.7
Hessl, D.8
Harris, S.W.9
Zhang, L.10
Jardini, T.11
Gane, L.W.12
Ferranti, J.13
Ruiz, L.14
Leehey, M.A.15
Grigsby, J.16
Hagerman, P.J.17
-
64
-
-
12744259994
-
FMR1 premutation as a rare cause of later onset ataxia: Evidence for FXTAS in female carriers
-
Zuhlke C., Budnik A., Gehlken U., Dalski A., Purmann S., Naumann M., Schmidt M., Burk K., Schwinger E. FMR1 premutation as a rare cause of later onset ataxia: Evidence for FXTAS in female carriers. J. Neurol. 2004, 251:1418-1419.
-
(2004)
J. Neurol
, vol.251
, pp. 1418-1419
-
-
Zuhlke, C.1
Budnik, A.2
Gehlken, U.3
Dalski, A.4
Purmann, S.5
Naumann, M.6
Schmidt, M.7
Burk, K.8
Schwinger, E.9
-
65
-
-
85026141310
-
Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS)
-
Hall D.A., Berry-Kravis E., Jacquemont S., Rice C.D., Cogswell J., Zhang L., Hagerman R.J., Hagerman P.J., Leehey M.A. Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology 2005, 65:299-301.
-
(2005)
Neurology
, vol.65
, pp. 299-301
-
-
Hall, D.A.1
Berry-Kravis, E.2
Jacquemont, S.3
Rice, C.D.4
Cogswell, J.5
Zhang, L.6
Hagerman, R.J.7
Hagerman, P.J.8
Leehey, M.A.9
-
66
-
-
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., Hagerman P.J., Mientjes E.J., Oostra B.A. The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions: Implications for the cerebellar tremor/ataxia syndrome. Hum. Mol. Genet. 2003, 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
Hagerman, P.J.11
Mientjes, E.J.12
Oostra, B.A.13
-
67
-
-
0033955447
-
Pathological and neuropathological findings in two males with fragile X syndrome
-
Sabaratnam M. Pathological and neuropathological findings in two males with fragile X syndrome. J. Intell. Disabil. Res. 2000, 44:81-85.
-
(2000)
J. Intell. Disabil. Res
, vol.44
, pp. 81-85
-
-
Sabaratnam, M.1
-
68
-
-
1542359463
-
Redistribution of transcription start sites within the FMR1 promoter region with expansion of the down-stream CGG-repeat element
-
[Epub 2004 Jan 2013.]
-
Beilina A., Tassone F., Schwartz P.H., Sahota P., Hagerman P.J. Redistribution of transcription start sites within the FMR1 promoter region with expansion of the down-stream CGG-repeat element. Hum. Mol. Genet. 2004, 13:543-549. [Epub 2004 Jan 2013.].
-
(2004)
Hum. Mol. Genet
, vol.13
, pp. 543-549
-
-
Beilina, A.1
Tassone, F.2
Schwartz, P.H.3
Sahota, P.4
Hagerman, P.J.5
-
69
-
-
0041880131
-
RNa-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila
-
Jin P., Zarnescu D.C., Zhang F., Pearson C.E., Lucchesi J.C., Moses K., Warren S.T. RNa-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 2003, 39:739-747.
-
(2003)
Neuron
, vol.39
, pp. 739-747
-
-
Jin, P.1
Zarnescu, D.C.2
Zhang, F.3
Pearson, C.E.4
Lucchesi, J.C.5
Moses, K.6
Warren, S.T.7
-
70
-
-
23944431645
-
FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Tassone F., Iwahashi C., Hagerman P.J. FMR1 RNA within the intranuclear inclusions of fragile X-associated tremor/ataxia syndrome (FXTAS). RNA Biol. 2004, 1:103-105.
-
(2004)
RNA Biol
, vol.1
, pp. 103-105
-
-
Tassone, F.1
Iwahashi, C.2
Hagerman, P.J.3
-
72
-
-
2342461060
-
Myotonic dystrophy: RNA pathogenesis comes into focus
-
[Epub 2004 Apr. 2002.]
-
Ranum L.P., Day J.W. Myotonic dystrophy: RNA pathogenesis comes into focus. Am. J. Hum. Genet. 2004, 74:793-804. [Epub 2004 Apr. 2002.].
-
(2004)
Am. J. Hum. Genet
, vol.74
, pp. 793-804
-
-
Ranum, L.P.1
Day, J.W.2
-
73
-
-
15044354661
-
RNA pathogenesis of the myotonic dystrophies
-
[Epub 2004 Nov 2026.]
-
Day J.W., Ranum L.P. RNA pathogenesis of the myotonic dystrophies. Neuromuscul. Disord. 2005, 15:5-16. [Epub 2004 Nov 2026.].
-
(2005)
Neuromuscul. Disord
, vol.15
, pp. 5-16
-
-
Day, J.W.1
Ranum, L.P.2
-
74
-
-
30344441794
-
Protein composition of the intranuclear inclusions of FXTAS
-
[Epub 2005 Oct 2004.]
-
Iwahashi C.K., Yasui D.H., An H.-J., Greco C.M., Tassone F., Nannen K., Babineau B., Lebrilla C.B., Hagerman R.J., Hagerman P.J. Protein composition of the intranuclear inclusions of FXTAS. Brain 2005, 129:256-271. [Epub 2005 Oct 2004.].
-
(2005)
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
-
75
-
-
0038281167
-
Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia
-
[Epub 2003 Feb 2027.]
-
Macpherson J., Waghorn A., Hammans S., Jacobs P. Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Hum. Genet. 2003, 112:619-620. [Epub 2003 Feb 2027.].
-
(2003)
Hum. Genet
, vol.112
, pp. 619-620
-
-
Macpherson, J.1
Waghorn, A.2
Hammans, S.3
Jacobs, P.4
-
76
-
-
19944434329
-
Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia
-
Van Esch H., Dom R., Bex D., Salden I., Caeckebeke J., Wibail A., Borghgraef M., Legius E., Fryns J.P., Matthijs G. Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur. J. Hum. Genet. 2005, 13:121-123.
-
(2005)
Eur. J. Hum. Genet
, vol.13
, pp. 121-123
-
-
van Esch, H.1
Dom, R.2
Bex, D.3
Salden, I.4
Caeckebeke, J.5
Wibail, A.6
Borghgraef, M.7
Legius, E.8
Fryns, J.P.9
Matthijs, G.10
-
77
-
-
20444415237
-
Should we screen for FMR1 premutations in female subjects presenting with ataxia?
-
Van Esch H., Matthijs G., Fryns J.P. Should we screen for FMR1 premutations in female subjects presenting with ataxia?. Ann. Neurol. 2005, 57:932-933.
-
(2005)
Ann. Neurol
, vol.57
, pp. 932-933
-
-
van Esch, H.1
Matthijs, G.2
Fryns, J.P.3
-
78
-
-
19944425949
-
FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia
-
Brussino A., Gellera C., Saluto A., Mariotti C., Arduino C., Castellotti B., Camerlingo M., de Angelis V., Orsi L., Tosca P., Migone N., Taroni F., Brusco A. FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. Neurology 2005, 64:145-147.
-
(2005)
Neurology
, vol.64
, pp. 145-147
-
-
Brussino, A.1
Gellera, C.2
Saluto, A.3
Mariotti, C.4
Arduino, C.5
Castellotti, B.6
Camerlingo, M.7
de Angelis, V.8
Orsi, L.9
Tosca, P.10
Migone, N.11
Taroni, F.12
Brusco, A.13
-
79
-
-
20844441928
-
FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy
-
Biancalana V., Toft M., Le Ber I., Tison F., Scherrer E., Thibodeau S., Mandel J.L., Brice A., Farrer M.J., Durr A. FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch. Neurol. 2005, 62:962-966.
-
(2005)
Arch. Neurol
, vol.62
, pp. 962-966
-
-
Biancalana, V.1
Toft, M.2
le Ber, I.3
Tison, F.4
Scherrer, E.5
Thibodeau, S.6
Mandel, J.L.7
Brice, A.8
Farrer, M.J.9
Durr, A.10
-
80
-
-
3242774429
-
Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort
-
Tan E.K., Zhao Y., Puong K.Y., Law H.Y., Chan L.L., Yew K., Tan C., Shen H., Chandran V.R., Teoh M.L., Yih Y., Pavanni R., Wong M.C., Ng I.S. Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 2004, 63:362-363.
-
(2004)
Neurology
, vol.63
, pp. 362-363
-
-
Tan, E.K.1
Zhao, Y.2
Puong, K.Y.3
Law, H.Y.4
Chan, L.L.5
Yew, K.6
Tan, C.7
Shen, H.8
Chandran, V.R.9
Teoh, M.L.10
Yih, Y.11
Pavanni, R.12
Wong, M.C.13
Ng, I.S.14
-
81
-
-
84882531827
-
Further evidence that a tremor/ataxia syndrome may occur in fragile X premutation carriers
-
Di Maria E., Grasso M., Pigullo S., Faravelli F., Abbruzzese G., Barone P., Martinelli P., Ratto S., Sciolla R., Bellone E., Dagna-Bricarelli F., Ajmar F., Mandich P. Further evidence that a tremor/ataxia syndrome may occur in fragile X premutation carriers. Paper presented at: American Society of Human Genetics, 53rd Annual Meeting 2003.
-
(2003)
Paper presented at: American Society of Human Genetics, 53rd Annual Meeting
-
-
di Maria, E.1
Grasso, M.2
Pigullo, S.3
Faravelli, F.4
Abbruzzese, G.5
Barone, P.6
Martinelli, P.7
Ratto, S.8
Sciolla, R.9
Bellone, E.10
Dagna-Bricarelli, F.11
Ajmar, F.12
Mandich, P.13
-
82
-
-
1542378696
-
Fragile X carrier screening and spinocerebellar ataxia in older males
-
Milunsky J.M., Maher T.A. Fragile X carrier screening and spinocerebellar ataxia in older males. Am. J. Med. Genet. A 2004, 125:320.
-
(2004)
Am. J. Med. Genet. A
, vol.125
, pp. 320
-
-
Milunsky, J.M.1
Maher, T.A.2
-
83
-
-
4444249398
-
Screen for expanded FMR1 alleles in patients with essential tremor
-
Garcia Arocena D., Louis E.D., Tassone F., Gilliam T.C., Ottman R., Jacquemont S., Hagerman P.J. Screen for expanded FMR1 alleles in patients with essential tremor. Mov. Disord. 2004, 19:930-933.
-
(2004)
Mov. Disord
, vol.19
, pp. 930-933
-
-
Garcia Arocena, D.1
Louis, E.D.2
Tassone, F.3
Gilliam, T.C.4
Ottman, R.5
Jacquemont, S.6
Hagerman, P.J.7
-
84
-
-
5044245884
-
Premutation alleles associated with Parkinson disease and essential tremor
-
Deng H., Le W., Jankovic J. Premutation alleles associated with Parkinson disease and essential tremor. JAMA 2004, 292:1685-1686.
-
(2004)
JAMA
, vol.292
, pp. 1685-1686
-
-
Deng, H.1
le, W.2
Jankovic, J.3
-
85
-
-
12244306251
-
Premutation alleles and fragile X-associated tremor/ataxia syndrome
-
author reply 296-297
-
Toft M., Farrer M. Premutation alleles and fragile X-associated tremor/ataxia syndrome. JAMA 2005, 293:296. author reply 296-297.
-
(2005)
JAMA
, vol.293
, pp. 296
-
-
Toft, M.1
Farrer, M.2
-
86
-
-
26444571889
-
Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
-
Hedrich K., Pramstaller P.P., Stubke K., Hiller A., Kabakci K., Purmann S., Kasten M., Scaglione C., Schwinger E., Volkmann J., Kostic V., Vieregge P., Martinelli P., Abbruzzese G., Klein C., Zuhlke C. Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?. Mov. Disord. 2005, 20:1060-1062.
-
(2005)
Mov. Disord
, vol.20
, pp. 1060-1062
-
-
Hedrich, K.1
Pramstaller, P.P.2
Stubke, K.3
Hiller, A.4
Kabakci, K.5
Purmann, S.6
Kasten, M.7
Scaglione, C.8
Schwinger, E.9
Volkmann, J.10
Kostic, V.11
Vieregge, P.12
Martinelli, P.13
Abbruzzese, G.14
Klein, C.15
Zuhlke, C.16
-
87
-
-
8544257311
-
Fragile X gene premutation in multiple system atrophy
-
Garland E.M., Vnencak-Jones C.L., Biaggioni I., Davis T.L., Montine T.J., Robertson D. Fragile X gene premutation in multiple system atrophy. J. Neurol. Sci. 2004, 227:115-118.
-
(2004)
J. Neurol. Sci
, vol.227
, pp. 115-118
-
-
Garland, E.M.1
Vnencak-Jones, C.L.2
Biaggioni, I.3
Davis, T.L.4
Montine, T.J.5
Robertson, D.6
-
88
-
-
23444442557
-
The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: Data from the EMSA Study Group
-
[Epub 2005 Jun 1859.]
-
Kamm C., Healy D.G., Quinn N.P., Wullner U., Moller J.C., Schols L., Geser F., Burk K., Borglum A.D., Pellecchia M.T., Tolosa E., del Sorbo F., Nilsson C., Bandmann O., Sharma M., Mayer P., Gasteiger M., Haworth A., Ozawa T., Lees A.J., Short J., Giunti P., Holinski-Feder E., Illig T., Wichmann H.E., Wenning G.K., Wood N.W., Gasser T. The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: Data from the EMSA Study Group. Brain 2005, 128:1855-1860. [Epub 2005 Jun 1859.].
-
(2005)
Brain
, vol.128
, pp. 1855-1860
-
-
Kamm, C.1
Healy, D.G.2
Quinn, N.P.3
Wullner, U.4
Moller, J.C.5
Schols, L.6
Geser, F.7
Burk, K.8
Borglum, A.D.9
Pellecchia, M.T.10
Tolosa, E.11
del Sorbo, F.12
Nilsson, C.13
Bandmann, O.14
Sharma, M.15
Mayer, P.16
Gasteiger, M.17
Haworth, A.18
Ozawa, T.19
Lees, A.J.20
Short, J.21
Giunti, P.22
Holinski-Feder, E.23
Illig, T.24
Wichmann, H.E.25
Wenning, G.K.26
Wood, N.W.27
Gasser, T.28
more..
-
89
-
-
21644486998
-
FXTAS, SCA10, and SCA17 in American patients with movement disorders
-
Seixas A.I., Maurer M.H., Lin M., Callahan C., Ahuja A., Matsuura T., Ross C.A., Hisama F.M., Silveira I., Margolis R.L. FXTAS, SCA10, and SCA17 in American patients with movement disorders. Am. J. Med. Genet. A 2005, 136:87-89.
-
(2005)
Am. J. Med. Genet. A
, vol.136
, pp. 87-89
-
-
Seixas, A.I.1
Maurer, M.H.2
Lin, M.3
Callahan, C.4
Ahuja, A.5
Matsuura, T.6
Ross, C.A.7
Hisama, F.M.8
Silveira, I.9
Margolis, R.L.10
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