-
1
-
-
0033515496
-
-
Allingham-Hawkins, D., Babul-Hirji, R., Chitayat, D., Holden, J., Yang, K., Lee, C., Hudson, R., Gorwill, H., Nolin, S., Glicksman, A., Jenkins, E., Brown, W., Howard-Peebles, P., Becchi, C., Cummings, E., Fallon, L., Seitz, S., Black, S., Vianna-Morgante, A., Costa, S., Otto, P., Mingroni-Netto, R., Murray, A., Webb, J., MacSwinney, F., Dennis, N., Jacobs, P., Syrrou, M., Georgiou, I., Patsalis, P., Giovannucci Uzielli, M., Guarducci, S., Lapi, E., Cecconi, A., Ricci, U., Ricotti, G., Biondi, C., Scarselli, B., & Vieri, F. (1999). Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X study - Preliminary data. Amer. J. Med. Genet. 83, 322-325.
-
Allingham-Hawkins, D., Babul-Hirji, R., Chitayat, D., Holden, J., Yang, K., Lee, C., Hudson, R., Gorwill, H., Nolin, S., Glicksman, A., Jenkins, E., Brown, W., Howard-Peebles, P., Becchi, C., Cummings, E., Fallon, L., Seitz, S., Black, S., Vianna-Morgante, A., Costa, S., Otto, P., Mingroni-Netto, R., Murray, A., Webb, J., MacSwinney, F., Dennis, N., Jacobs, P., Syrrou, M., Georgiou, I., Patsalis, P., Giovannucci Uzielli, M., Guarducci, S., Lapi, E., Cecconi, A., Ricci, U., Ricotti, G., Biondi, C., Scarselli, B., & Vieri, F. (1999). Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X study - Preliminary data. Amer. J. Med. Genet. 83, 322-325.
-
-
-
-
2
-
-
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., Brice, A., Farrer, M., & Durr, A. (2005). FMR1 premutations associated with fragile X-associated tremor/ataxia syndrome in multiple system atrophy. Arch. Neurol. 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.7
Brice, A.8
Farrer, M.9
Durr, A.10
-
3
-
-
0029934242
-
Prenatal diagnosis and carrier screening for fragile X by PCR
-
Brown, W., Nolin, S., Houck, G. J., Ding, X., Glicksman, A., Li, S., Stark-Houck, S., Brophy, P., Duncan, C., Dobkin, C., & Jenkins, E. (1996). Prenatal diagnosis and carrier screening for fragile X by PCR. Amer. J. Med. Genet. 64, 191-195.
-
(1996)
Amer. J. Med. Genet
, vol.64
, pp. 191-195
-
-
Brown, W.1
Nolin, S.2
Houck, G.J.3
Ding, X.4
Glicksman, A.5
Li, S.6
Stark-Houck, S.7
Brophy, P.8
Duncan, C.9
Dobkin, C.10
Jenkins, E.11
-
4
-
-
0036846189
-
Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg, J., Jacquemont, S., Hagerman, R., Berry-Kravis, E., Grigsby, J., Leehey, M., Tassone, F., Brown, W., Greco, C., & Hagerman, P. (2002). Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. AJNR Amer. J. Neuroradiol. 23, 1757-1766.
-
(2002)
AJNR Amer. J. Neuroradiol
, vol.23
, pp. 1757-1766
-
-
Brunberg, J.1
Jacquemont, S.2
Hagerman, R.3
Berry-Kravis, E.4
Grigsby, J.5
Leehey, M.6
Tassone, F.7
Brown, W.8
Greco, C.9
Hagerman, P.10
-
5
-
-
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. (2005). FMR1 gene premutation is a frequent genetic cause of late-onset sporadic cerebellar ataxia. Neurology 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
-
6
-
-
0029097960
-
Fragile X premutations in familial premature ovarian failure
-
Conway, G., Hettiarachchi, S., Murray, A., & Jacobs, P. (1995). Fragile X premutations in familial premature ovarian failure. Lancet 346, 309-310.
-
(1995)
Lancet
, vol.346
, pp. 309-310
-
-
Conway, G.1
Hettiarachchi, S.2
Murray, A.3
Jacobs, P.4
-
7
-
-
0035746538
-
FMR1 and the fragile X syndrome: Human genome epidemiology review
-
Crawford, D., Acuna, J., & Sherman, S. (2001). FMR1 and the fragile X syndrome: Human genome epidemiology review. Genet. Med. 3, 359-371.
-
(2001)
Genet. Med
, vol.3
, pp. 359-371
-
-
Crawford, D.1
Acuna, J.2
Sherman, S.3
-
8
-
-
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., Lévesque, S., Morel, M. L., Rouillard, P., Morgan, K., & Rousseau, F. (2002). 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. Molec. Genet. 11, 371-378.
-
(2002)
Hum. Molec. Genet
, vol.11
, pp. 371-378
-
-
Dombrowski, C.1
Lévesque, S.2
Morel, M.L.3
Rouillard, P.4
Morgan, K.5
Rousseau, F.6
-
9
-
-
4444249398
-
Screen for expanded FMR1 alleles in patients with essential tremor
-
Garcia-Aroncena, D., Louis, E., Tassone, F., Gilliam, T., Ottman, R., Jacquemont, S., & Hagerman, P. (2004). Screen for expanded FMR1 alleles in patients with essential tremor. Move. Disord. 19, 930-933.
-
(2004)
Move. Disord
, vol.19
, pp. 930-933
-
-
Garcia-Aroncena, D.1
Louis, E.2
Tassone, F.3
Gilliam, T.4
Ottman, R.5
Jacquemont, S.6
Hagerman, P.7
-
10
-
-
8544257311
-
Fragile X gene premutation in multiple system atrophy
-
Garland, E., Vnencak-Jones, C., Biaggioni, I., Davis, T., Montine, T., & Robertson, D. (2004). Fragile X gene premutation in multiple system atrophy. J. Neuro. Sci. 227, 115-118.
-
(2004)
J. Neuro. Sci
, vol.227
, pp. 115-118
-
-
Garland, E.1
Vnencak-Jones, C.2
Biaggioni, I.3
Davis, T.4
Montine, T.5
Robertson, D.6
-
11
-
-
30344473617
-
Neuropathology of the fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Greco, C., Berman, R., Martin, R., Tassone, F., Schwartz, P., Chang, A., Trapp, B., Iwahashi, C., Brunberg, J., Grigsby, J., Hessl, D., Becker, E., Papazian, J., Leehey, M., Hagerman, R., & Hagerman, P. (2006). Neuropathology of the fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 129, 243-255.
-
(2006)
Brain
, vol.129
, pp. 243-255
-
-
Greco, C.1
Berman, R.2
Martin, R.3
Tassone, F.4
Schwartz, P.5
Chang, A.6
Trapp, B.7
Iwahashi, C.8
Brunberg, J.9
Grigsby, J.10
Hessl, D.11
Becker, E.12
Papazian, J.13
Leehey, M.14
Hagerman, R.15
Hagerman, P.16
-
12
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile X carriers
-
Greco, C., Hagerman, R., Tassone, F., Chudley, A., Del Bigio, M., Jacquemont, S., Leehey, M., & Hagerman, P. (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.1
Hagerman, R.2
Tassone, F.3
Chudley, A.4
Del Bigio, M.5
Jacquemont, S.6
Leehey, M.7
Hagerman, P.8
-
13
-
-
33646145602
-
Lessons from Fragile X regarding neurobiology, autism, and neurodegeneration
-
Hagerman, R. (2006). Lessons from Fragile X regarding neurobiology, autism, and neurodegeneration. J. Devel. Behav. Pediatr. 27, 63-74.
-
(2006)
J. Devel. Behav. Pediatr
, vol.27
, pp. 63-74
-
-
Hagerman, R.1
-
14
-
-
0025976185
-
Fragile X checklist
-
Hagerman, R., Amiri, K., & Cronister, A. (1991). Fragile X checklist. Amer. J. Med. Genet. 38, 283-287.
-
(1991)
Amer. J. Med. Genet
, vol.38
, pp. 283-287
-
-
Hagerman, R.1
Amiri, K.2
Cronister, A.3
-
15
-
-
2342453253
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
-
Hagerman, R., Leavitt, B., Farzin, F., Jacquemont, S., Greco, C., Brunberg, J., Tassone, F., Hessl, D., Harris, S., Zhang, L., Jardini, T., Gane, L. W., Ferranti, J., Ruiz, L., Leehey, M., Grigsby, J., & Hagerman, P. (2004a). Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Amer. J. Hum. Genet. 74, 1051-1056.
-
(2004)
Amer. J. Hum. Genet
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.1
Leavitt, B.2
Farzin, F.3
Jacquemont, S.4
Greco, C.5
Brunberg, J.6
Tassone, F.7
Hessl, D.8
Harris, S.9
Zhang, L.10
Jardini, T.11
Gane, L.W.12
Ferranti, J.13
Ruiz, L.14
Leehey, M.15
Grigsby, J.16
Hagerman, P.17
-
16
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman, R., Leehey, M., Heinrichs, W., Tassone, F., Wilson, R., Hills, J., Grigsby, J., Gage, B., & Hagerman, P. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57, 127-130.
-
(2001)
Neurology
, vol.57
, pp. 127-130
-
-
Hagerman, R.1
Leehey, M.2
Heinrichs, W.3
Tassone, F.4
Wilson, R.5
Hills, J.6
Grigsby, J.7
Gage, B.8
Hagerman, P.9
-
17
-
-
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. (2005). Initial diagnoses given to persons with the fragile X associated tremor/ataxia syndrome (FXTAS). Neurology 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
-
18
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont, S., Hagerman, R., Leehey, M., Hall, D., Levine, R., Brunberg, J., Zhang, L., Jardini, T., Gane, L., Harris, S., Herman, K., Grigsby, J., Greco, C., Berry-Kravis, E., Tassone, F., & Hagerman, P. (2004). Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. J. Amer. Med. Assoc. 291, 460-469.
-
(2004)
J. Amer. Med. Assoc
, vol.291
, pp. 460-469
-
-
Jacquemont, S.1
Hagerman, R.2
Leehey, M.3
Hall, D.4
Levine, R.5
Brunberg, J.6
Zhang, L.7
Jardini, T.8
Gane, L.9
Harris, S.10
Herman, K.11
Grigsby, J.12
Greco, C.13
Berry-Kravis, E.14
Tassone, F.15
Hagerman, P.16
-
19
-
-
23444442557
-
-
Kamm, C., Healy, D., Quinn, N., Wullner, U., Moller, J., Schols, L., Geser, F., Burk, K., Borglum, A., Pellecchia, M., Tolosa, E., del Sorbo, F., Nilsson, C., Bandmann, O., Sharma, M., Mayer, P., Gasteiger, M., Haworth, A., Ozawa, T., Lees, A., Short, J., Giunti, P., Holinski-Feder, E., Illig, T., Wichmann, H., Wenning, G., Wood, N., & Gasser, T. (2005). The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: Data from the EMSA Study Group. Brain 128, 1855-1860.
-
Kamm, C., Healy, D., Quinn, N., Wullner, U., Moller, J., Schols, L., Geser, F., Burk, K., Borglum, A., Pellecchia, M., Tolosa, E., del Sorbo, F., Nilsson, C., Bandmann, O., Sharma, M., Mayer, P., Gasteiger, M., Haworth, A., Ozawa, T., Lees, A., Short, J., Giunti, P., Holinski-Feder, E., Illig, T., Wichmann, H., Wenning, G., Wood, N., & Gasser, T. (2005). The fragile X tremor ataxia syndrome in the differential diagnosis of multiple system atrophy: Data from the EMSA Study Group. Brain 128, 1855-1860.
-
-
-
-
20
-
-
0014517848
-
A marker X chromosome
-
Lubs, H. (1969). A marker X chromosome. Amer. J. Hum. Genet. 21, 231-244.
-
(1969)
Amer. J. Hum. Genet
, vol.21
, pp. 231-244
-
-
Lubs, H.1
-
21
-
-
0038281167
-
Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia
-
Macpherson, J., Waghorn, A., Hammans, S., & Jacobs, P. (2003). Observation of an excess of fragile-X premutations in a population of males referred with spinocerebellar ataxia. Hum. Genet. 112, 619-620.
-
(2003)
Hum. Genet
, vol.112
, pp. 619-620
-
-
Macpherson, J.1
Waghorn, A.2
Hammans, S.3
Jacobs, P.4
-
22
-
-
0000524625
-
A pedigree of mental defect showing sex-linkage
-
Martin, J., & Bell, J. (1943). A pedigree of mental defect showing sex-linkage. J. Neurol. Psych. 6, 154-157.
-
(1943)
J. Neurol. Psych
, vol.6
, pp. 154-157
-
-
Martin, J.1
Bell, J.2
-
23
-
-
1542378696
-
Fragile X carrier screening and spinocerebellar ataxia in older males
-
Milunsky, J., & Maher, T. (2004). Fragile X carrier screening and spinocerebellar ataxia in older males. Amer. J. Med. Genet A. 125, 320.
-
(2004)
Amer. J. Med. Genet A
, vol.125
, pp. 320
-
-
Milunsky, J.1
Maher, T.2
-
24
-
-
0031857007
-
Studies of FRAXA and FRAXE in women with premature ovarian failure
-
Murray, A., Webb, J., Grimley, S., Conway, G., & Jacobs, P. (1998). Studies of FRAXA and FRAXE in women with premature ovarian failure. J. Med. Genet. 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
-
25
-
-
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. Jr., 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 Koskul, H., & Sherman, S. L. (2003). Expansion of the fragile X CGG repeat in females with premutation or intermediate alleles. Amer. J. Hum. Genet. 72, 454-464.
-
(2003)
Amer. J. Hum. Genet
, vol.72
, pp. 454-464
-
-
Nolin, S.L.1
Brown, W.T.2
Glicksman, A.3
Houck Jr., 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 Koskul, H.19
Sherman, S.L.20
more..
-
26
-
-
0029931540
-
Confirmation of early menopause in fragile X carriers
-
Partington, M., Moore, D., & Turner, G. (1996). Confirmation of early menopause in fragile X carriers. Amer. J. Med. Genet. 64, 370-372.
-
(1996)
Amer. J. Med. Genet
, vol.64
, pp. 370-372
-
-
Partington, M.1
Moore, D.2
Turner, G.3
-
27
-
-
0025833298
-
Absence of expression of the FMR-1 gene in fragile X syndrome
-
Pieretti, M., Zhang, F., Fu, Y., Warren, S., Oostra, B., Caskey, C., & Nelson, D. (1991). Absence of expression of the FMR-1 gene in fragile X syndrome. Cell 66, 817-822.
-
(1991)
Cell
, vol.66
, pp. 817-822
-
-
Pieretti, M.1
Zhang, F.2
Fu, Y.3
Warren, S.4
Oostra, B.5
Caskey, C.6
Nelson, D.7
-
28
-
-
33748373580
-
RNA-mediated neuromuscular disorders
-
Ranum, L., & Cooper, T. (2006). RNA-mediated neuromuscular disorders. Ann. Rev. Neurosci. 29, 259-277.
-
(2006)
Ann. Rev. Neurosci
, vol.29
, pp. 259-277
-
-
Ranum, L.1
Cooper, T.2
-
29
-
-
0028237295
-
Obstetrical and gynecological complications in fragile X carriers: A multicenter study
-
Schwartz, C., Dean, J., Howard-Peebles, P., Bugge, M., Mikkelsen, M., Tommerup, N., Hull, C., Hagerman, R., Holden, J., & Stevenson, R. (1994). Obstetrical and gynecological complications in fragile X carriers: a multicenter study. Amer. J. Med. Genet. 51, 400-402.
-
(1994)
Amer. J. Med. Genet
, vol.51
, pp. 400-402
-
-
Schwartz, C.1
Dean, J.2
Howard-Peebles, P.3
Bugge, M.4
Mikkelsen, M.5
Tommerup, N.6
Hull, C.7
Hagerman, R.8
Holden, J.9
Stevenson, R.10
-
30
-
-
21644486998
-
FXTAS, SCA10, and SCA17 in American patients with movement disorders
-
Seixas, A., Maurer, M., Lin, M., Callahan, C., Ahuja, A., Matsuura, T., Ross, C., Hisama, F., Silveira, I., & Margolis, R. (2005). FXTAS, SCA10, and SCA17 in American patients with movement disorders. Amer. J. Med. Genet A 136, 87-89.
-
(2005)
Amer. J. Med. Genet A
, vol.136
, pp. 87-89
-
-
Seixas, A.1
Maurer, M.2
Lin, M.3
Callahan, C.4
Ahuja, A.5
Matsuura, T.6
Ross, C.7
Hisama, F.8
Silveira, I.9
Margolis, R.10
-
31
-
-
0027525069
-
Analysis of a CGG sequence at theFMR-1 locus in fragile X families and in the general population
-
Snow, K., Doud, L. K., Hagerman, R., Pergolizzi, R. G., Erster, S. H., & Thibodeau, S. N. (1993). Analysis of a CGG sequence at theFMR-1 locus in fragile X families and in the general population. Amer. J. Hum. Genet. 53, 1217-1228.
-
(1993)
Amer. J. Hum. Genet
, vol.53
, pp. 1217-1228
-
-
Snow, K.1
Doud, L.K.2
Hagerman, R.3
Pergolizzi, R.G.4
Erster, S.H.5
Thibodeau, S.N.6
-
32
-
-
3242774429
-
-
Tan, E., Zhao, Y., Puong, K., Law, H., Chan, L., Yew, K., Tan, C., Shen, H., Chandran, V., Teoh, M., Yih, Y., Pavanni, R., Wong, M., & Ng, I. (2004). Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 63, 362-363.
-
Tan, E., Zhao, Y., Puong, K., Law, H., Chan, L., Yew, K., Tan, C., Shen, H., Chandran, V., Teoh, M., Yih, Y., Pavanni, R., Wong, M., & Ng, I. (2004). Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 63, 362-363.
-
-
-
-
33
-
-
0033940157
-
Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome
-
Tassone, F., Hagerman, R., Taylor, A., Gane, L., Godfrey, T., & Hagerman, P. (2000). Elevated levels of FMR1 mRNA in carrier males: A new mechanism of involvement in the fragile-X syndrome. Amer. J. Hum. Genet. 66, 6-15.
-
(2000)
Amer. J. Hum. Genet
, vol.66
, pp. 6-15
-
-
Tassone, F.1
Hagerman, R.2
Taylor, A.3
Gane, L.4
Godfrey, T.5
Hagerman, P.6
-
34
-
-
14944385602
-
Parkinsonism, FXTAS, and FMR1 premutations
-
Toft, M., Aasly, J., Bisceglio, G., Adler, C., Uitti, R., Krygowska-Wajs, A., Lynch, T., Wszolek, Z., & Farrer, M. (2005). Parkinsonism, FXTAS, and FMR1 premutations. Move. Disord. 20, 230-233.
-
(2005)
Move. Disord
, vol.20
, pp. 230-233
-
-
Toft, M.1
Aasly, J.2
Bisceglio, G.3
Adler, C.4
Uitti, R.5
Krygowska-Wajs, A.6
Lynch, T.7
Wszolek, Z.8
Farrer, M.9
-
35
-
-
0034917943
-
Fragile-X carrier screening and the prevalence of permutation and full mutation carriers in Israel
-
Toledano-Alhadef, H., Basel-Vanagaite, L., Magal, N., Davidov, B., Ehrlich, S., Drasinover, V., Taub, E., Halpern, G., Ginott, N., & Shohat, M. (2001). Fragile-X carrier screening and the prevalence of permutation and full mutation carriers in Israel. Amer. J. Hum. Genet. 69(2): 351-360.
-
(2001)
Amer. J. Hum. Genet
, vol.69
, Issue.2
, pp. 351-360
-
-
Toledano-Alhadef, H.1
Basel-Vanagaite, L.2
Magal, N.3
Davidov, B.4
Ehrlich, S.5
Drasinover, V.6
Taub, E.7
Halpern, G.8
Ginott, N.9
Shohat, M.10
-
36
-
-
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., & Matthijs, G. (2005). Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur. J. Hum. Genet. 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.9
Matthijs, G.10
-
37
-
-
0025905795
-
Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome
-
Verkerk, A., Pieretti, M., Sutcliffe, J., Fu, Y., Kuhl, D., Pizzuti, A., Reiner, O., Richards, S., Victoria, M., Zhang, F., Eussen, B., van Ommen, G., Blonden, L., Riggins, G., Chastain, J., Kunst, C., Galjaard, H., Caskey, C., Nelson, D., Oostra, B., & Warran, S. (1991). Identification of a gene (FMR-1) containing a CGG repeat coincident with a breakpoint cluster region exhibiting length variation in fragile X syndrome. Cell 65, 905-914.
-
(1991)
Cell
, vol.65
, pp. 905-914
-
-
Verkerk, A.1
Pieretti, M.2
Sutcliffe, J.3
Fu, Y.4
Kuhl, D.5
Pizzuti, A.6
Reiner, O.7
Richards, S.8
Victoria, M.9
Zhang, F.10
Eussen, B.11
van Ommen, G.12
Blonden, L.13
Riggins, G.14
Chastain, J.15
Kunst, C.16
Galjaard, H.17
Caskey, C.18
Nelson, D.19
Oostra, B.20
Warran, S.21
more..
-
38
-
-
0030015141
-
FRAXA premutation associated with premature ovarian failure
-
Vianna-Morgante, A., Costa, S., Pares, A., & Verreschi, I. (1996). FRAXA premutation associated with premature ovarian failure. Amer. J. Med. Genet. 64, 373-375.
-
(1996)
Amer. J. Med. Genet
, vol.64
, pp. 373-375
-
-
Vianna-Morgante, A.1
Costa, S.2
Pares, A.3
Verreschi, I.4
-
39
-
-
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., Nieuwenhuizen, I., Schrier, M., van Unen, L., Tassone, F., Hoogeveen, A., Hagerman, P., Mientjes, E., & Oostra, B. (2003). The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum. Molec. Genet. 12, 949-959.
-
(2003)
Hum. Molec. Genet
, vol.12
, pp. 949-959
-
-
Willemsen, R.1
Hoogeveen-Westerveld, M.2
Reis, S.3
Holstege, J.4
Severijnen, L.5
Nieuwenhuizen, I.6
Schrier, M.7
van Unen, L.8
Tassone, F.9
Hoogeveen, A.10
Hagerman, P.11
Mientjes, E.12
Oostra, B.13
-
40
-
-
12744262948
-
No association between FMR1 premutations and multisystem atrophy
-
Yabe, I., Soma, H., Takei, A., Fujik, N., & Sasaki, H. (2004). No association between FMR1 premutations and multisystem atrophy. J. Neurol. 251, 1411-1412.
-
(2004)
J. Neurol
, vol.251
, pp. 1411-1412
-
-
Yabe, I.1
Soma, H.2
Takei, A.3
Fujik, N.4
Sasaki, H.5
-
41
-
-
12744259994
-
FMR1 premutation as a rare cause of late onset ataxia-evidence for FXTAS in female carriers
-
Zuhlke, C., Budnik, A., Gehlke, U., Dalski, A., Purmann, S., Naumann, M., Schmidt, M., Burk, K., & Schwinger, E. (2004). FMR1 premutation as a rare cause of late onset ataxia-evidence for FXTAS in female carriers. J. Neurol. 251, 1418-1419.
-
(2004)
J. Neurol
, vol.251
, pp. 1418-1419
-
-
Zuhlke, C.1
Budnik, A.2
Gehlke, U.3
Dalski, A.4
Purmann, S.5
Naumann, M.6
Schmidt, M.7
Burk, K.8
Schwinger, E.9
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