-
1
-
-
43649094122
-
Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery
-
Allen E.G., Juncos J., Letz R., Rusin M., Hamilton D., Novak G., Sherman S.L. Detection of early FXTAS motor symptoms using the CATSYS computerised neuromotor test battery. Journal of Medical Genetics 2008, 45:290-297.
-
(2008)
Journal of Medical Genetics
, vol.45
, pp. 290-297
-
-
Allen, E.G.1
Juncos, J.2
Letz, R.3
Rusin, M.4
Hamilton, D.5
Novak, G.6
Sherman, S.L.7
-
2
-
-
34547813683
-
Examination of reproductive aging milestones among women who carry the FMR1 premutation
-
Allen E.G., Sullivan A.K., Marcus M., Small C., Dominguez C., Epstein M.P., Sherman S.L. Examination of reproductive aging milestones among women who carry the FMR1 premutation. Human Reproduction 2007, 22:2142-2152.
-
(2007)
Human Reproduction
, vol.22
, pp. 2142-2152
-
-
Allen, E.G.1
Sullivan, A.K.2
Marcus, M.3
Small, C.4
Dominguez, C.5
Epstein, M.P.6
Sherman, S.L.7
-
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., Vieri F. Fragile X premutation is a significant risk factor for premature ovarian failure: The International Collaborative POF in Fragile X study-preliminary data. American Journal of Medical Genetics 1999, 83:322-325.
-
(1999)
American Journal of Medical Genetics
, 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
Vieri, F.7
-
4
-
-
0027377580
-
FMR1 protein: Conserved RNP family domains and selective RNA binding
-
Ashley C.T., Wilkinson K.D., Reines D., Warren S.T. FMR1 protein: Conserved RNP family domains and selective RNA binding. Science 1993, 262:563-566.
-
(1993)
Science
, vol.262
, pp. 563-566
-
-
Ashley, C.T.1
Wilkinson, K.D.2
Reines, D.3
Warren, S.T.4
-
5
-
-
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.A., Cogswell J., Goodlin-Jones B.L., Gane L.W., Hagerman R.J. Psychiatric phenotype of the fragile X-associated tremor/ataxia syndrome (FXTAS) in males: Newly described fronto-subcortical dementia. Journal of Clinical Psychiatry 2006, 67:87-94.
-
(2006)
Journal of Clinical Psychiatry
, vol.67
, pp. 87-94
-
-
Bacalman, S.1
Farzin, F.2
Bourgeois, J.A.3
Cogswell, J.4
Goodlin-Jones, B.L.5
Gane, L.W.6
Hagerman, R.J.7
-
7
-
-
0001721056
-
Predicting premorbid IQ: A revision of the national adult reading test
-
Blair J.R., Spreen O. Predicting premorbid IQ: A revision of the national adult reading test. The Clinical Neuropsychologist 1989, 3:129-136.
-
(1989)
The Clinical Neuropsychologist
, vol.3
, pp. 129-136
-
-
Blair, J.R.1
Spreen, O.2
-
8
-
-
34250750659
-
Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome
-
Bourgeois J.A., Cogswell J.B., Hessl D., Zhang L., Ono M.Y., Tassone F., Hagerman R.J. Cognitive, anxiety and mood disorders in the fragile X-associated tremor/ataxia syndrome. General Hospital Psychiatry 2007, 29:349-356.
-
(2007)
General Hospital Psychiatry
, vol.29
, pp. 349-356
-
-
Bourgeois, J.A.1
Cogswell, J.B.2
Hessl, D.3
Zhang, L.4
Ono, M.Y.5
Tassone, F.6
Hagerman, R.J.7
-
9
-
-
54349095417
-
The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome
-
Brega A.G., Goodrich G., Bennett R.E., Hessl D., Engle K., Leehey M.A., Grigsby J. The primary cognitive deficit among males with fragile X-associated tremor/ataxia syndrome (FXTAS) is a dysexecutive syndrome. Journal of Clinical and Experimental Neuropsychology 2008, 1-17.
-
(2008)
Journal of Clinical and Experimental Neuropsychology
, pp. 1-17
-
-
Brega, A.G.1
Goodrich, G.2
Bennett, R.E.3
Hessl, D.4
Engle, K.5
Leehey, M.A.6
Grigsby, J.7
-
10
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
Brown W.T., Houck G.E., Jeziorowska A., Levinson F.N., Ding X., Dobkin C., Jenkins E.C. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. Journal of the American Medical Association 1993, 270:1569-1575.
-
(1993)
Journal of the American Medical Association
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck, G.E.2
Jeziorowska, A.3
Levinson, F.N.4
Ding, X.5
Dobkin, C.6
Jenkins, E.C.7
-
11
-
-
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., Hagerman P.J. Fragile X premutation carriers: Characteristic MR imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction. American Journal of Neuroradiology 2002, 23:1757-1766.
-
(2002)
American Journal of Neuroradiology
, 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
Hagerman, P.J.7
-
13
-
-
33750335320
-
Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome
-
Cohen S., Masyn K., Adams J., Hessl D., Rivera S., Tassone F., Hagerman R. Molecular and imaging correlates of the fragile X-associated tremor/ataxia syndrome. Neurology 2006, 67:1426-1431.
-
(2006)
Neurology
, vol.67
, pp. 1426-1431
-
-
Cohen, S.1
Masyn, K.2
Adams, J.3
Hessl, D.4
Rivera, S.5
Tassone, F.6
Hagerman, R.7
-
14
-
-
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 P.J. Age-dependent cognitive changes in carriers of the fragile X syndrome. Cortex 2008, 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, P.J.7
-
15
-
-
0025967195
-
Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features
-
Cronister A., Schreiner R., Wittenberger M., Amiri K., Harris K., Hagerman R.J. Heterozygous fragile X female: Historical, physical, cognitive, and cytogenetic features. American Journal of Medical Genet 1991, 38:269-274.
-
(1991)
American Journal of Medical 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
-
16
-
-
0003915785
-
-
The Psychological Corporation, San Antonio, TX
-
Delis D.C., Kaplan E., Kramer J.H. Delis-Kaplan executive function system: Examiner's manual 2001, The Psychological Corporation, San Antonio, TX.
-
(2001)
Delis-Kaplan executive function system: Examiner's manual
-
-
Delis, D.C.1
Kaplan, E.2
Kramer, J.H.3
-
17
-
-
31344455020
-
Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers
-
Ennis S., Ward D., Murray A. Nonlinear association between CGG repeat number and age of menopause in FMR1 premutation carriers. European Journal of Human Genetics 2006, 14:253-255.
-
(2006)
European Journal of Human Genetics
, vol.14
, pp. 253-255
-
-
Ennis, S.1
Ward, D.2
Murray, A.3
-
18
-
-
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., Caskey C.T. Variation of the CGG repeat at the fragile X site results in genetic instability: Resolution of the Sherman paradox. Cell 1991, 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
Caskey, C.T.7
-
19
-
-
0033653749
-
Relationships between quantitative measures and neurologist's clinical rating of tremor and standing steadiness in two epidemiological studies
-
Gerr F., Letz R., Green R.C. Relationships between quantitative measures and neurologist's clinical rating of tremor and standing steadiness in two epidemiological studies. Neurotoxicology 2000, 21:753-760.
-
(2000)
Neurotoxicology
, vol.21
, pp. 753-760
-
-
Gerr, F.1
Letz, R.2
Green, R.C.3
-
20
-
-
57649114147
-
Effects of alcoholism severity and smoking on executive neurocognitive function
-
Glass J.M., Buu A., Adams K.M., Nigg J.T., Puttler L.I., Jester J.M., Zucker R.A. Effects of alcoholism severity and smoking on executive neurocognitive function. Addiction 2009, 104:38-48.
-
(2009)
Addiction
, vol.104
, pp. 38-48
-
-
Glass, J.M.1
Buu, A.2
Adams, K.M.3
Nigg, J.T.4
Puttler, L.I.5
Jester, J.M.6
Zucker, R.A.7
-
21
-
-
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., Hagerman P.J. Neuropathology of fragile X-associated tremor/ataxia syndrome (FXTAS). Brain 2006, 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
Hagerman, P.J.7
-
22
-
-
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., 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
Hagerman, P.J.7
-
23
-
-
33947268037
-
Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome
-
Greco C.M., Soontrapornchai K., Wirojanan J., Gould J.E., Hagerman P.J., Hagerman R.J. Testicular and pituitary inclusion formation in fragile X associated tremor/ataxia syndrome. Journal of Urology 2007, 177:1434-1437.
-
(2007)
Journal of Urology
, vol.177
, pp. 1434-1437
-
-
Greco, C.M.1
Soontrapornchai, K.2
Wirojanan, J.3
Gould, J.E.4
Hagerman, P.J.5
Hagerman, R.J.6
-
24
-
-
39049106972
-
Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome
-
Grigsby J., Brega A.G., Engle K., Leehey M.A., Hagerman R.J., Tassone F., Reynolds A. Cognitive profile of fragile X premutation carriers with and without fragile X-associated tremor/ataxia syndrome. Neuropsychology 2008, 22:48-60.
-
(2008)
Neuropsychology
, vol.22
, pp. 48-60
-
-
Grigsby, J.1
Brega, A.G.2
Engle, K.3
Leehey, M.A.4
Hagerman, R.J.5
Tassone, F.6
Reynolds, A.7
-
25
-
-
33750343705
-
Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS)
-
Grigsby J., Brega A.G., Jacquemont S., Loesch D.Z., Leehey M.A., Goodrich G.K., Hagerman P.J. Impairment in the cognitive functioning of men with fragile X-associated tremor/ataxia syndrome (FXTAS). Journal of the Neurological Sciences 2006, 248:227-233.
-
(2006)
Journal of the Neurological Sciences
, vol.248
, pp. 227-233
-
-
Grigsby, J.1
Brega, A.G.2
Jacquemont, S.3
Loesch, D.Z.4
Leehey, M.A.5
Goodrich, G.K.6
Hagerman, P.J.7
-
26
-
-
34249088586
-
Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome
-
Grigsby J., Brega A.G., Leehey M.A., Goodrich G.K., Jacquemont S., Loesch D.Z., Hagerman R.J. Impairment of executive cognitive functioning in males with fragile X-associated tremor/ataxia syndrome. Movement Disorders 2007, 22:645-650.
-
(2007)
Movement Disorders
, vol.22
, pp. 645-650
-
-
Grigsby, J.1
Brega, A.G.2
Leehey, M.A.3
Goodrich, G.K.4
Jacquemont, S.5
Loesch, D.Z.6
Hagerman, R.J.7
-
27
-
-
33748541972
-
Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS)
-
Grigsby J., Leehey M.A., Jacquemont S., Brunberg J.A., Hagerman R.J., Wilson R., Hagerman P.J. Cognitive impairment in a 65-year-old male with the fragile X-associated tremor-ataxia syndrome (FXTAS). Cognitive and Behavioral Neurology 2006, 19:165-171.
-
(2006)
Cognitive and Behavioral Neurology
, vol.19
, pp. 165-171
-
-
Grigsby, J.1
Leehey, M.A.2
Jacquemont, S.3
Brunberg, J.A.4
Hagerman, R.J.5
Wilson, R.6
Hagerman, P.J.7
-
28
-
-
33846900407
-
Fragile X-associated tremor/ataxia syndrome-an older face of the fragile X gene
-
Hagerman P.J., Hagerman R.J. Fragile X-associated tremor/ataxia syndrome-an older face of the fragile X gene. Nature Clinical Practice Neurology 2007, 3:107-112.
-
(2007)
Nature Clinical Practice Neurology
, vol.3
, pp. 107-112
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
29
-
-
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., 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
Hagerman, P.J.7
-
30
-
-
0003968285
-
-
Psychological Assessment Resources, Odessa, FL
-
Heaton R., Cheline G., Talley J., Kay G., Curtiss G. Wisconsin card sorting test manual: Revised and expanded 1993, Psychological Assessment Resources, Odessa, FL.
-
(1993)
Wisconsin card sorting test manual: Revised and expanded
-
-
Heaton, R.1
Cheline, G.2
Talley, J.3
Kay, G.4
Curtiss, G.5
-
31
-
-
57149143313
-
No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50
-
Hunter J.E., Allen E.G., Abramowitz A., Rusin M., Leslie M., Novak G., Sherman S.L. No evidence for a difference in neuropsychological profile among carriers and noncarriers of the FMR1 premutation in adults under the age of 50. American Journal of Human Genetics 2008, 83:692-702.
-
(2008)
American Journal of Human Genetics
, vol.83
, pp. 692-702
-
-
Hunter, J.E.1
Allen, E.G.2
Abramowitz, A.3
Rusin, M.4
Leslie, M.5
Novak, G.6
Sherman, S.L.7
-
32
-
-
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., Hagerman P.J. Fragile X premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates. American Journal of Human Genetics 2003, 72:869-878.
-
(2003)
American Journal of Human 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
Hagerman, P.J.7
-
33
-
-
0029955568
-
Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population
-
Meadows K.L., Pettay D., Newman J., Hersey J., Ashley A.E., Sherman S.L. Survey of the fragile X syndrome and the fragile X E syndrome in a special education needs population. American Journal of Medicine Genet 1996, 64:428-433.
-
(1996)
American Journal of Medicine Genet
, vol.64
, pp. 428-433
-
-
Meadows, K.L.1
Pettay, D.2
Newman, J.3
Hersey, J.4
Ashley, A.E.5
Sherman, S.L.6
-
35
-
-
84965520932
-
The CES-D scale: A self-report depression scale for research in the general population
-
Radloff L.S. The CES-D scale: A self-report depression scale for research in the general population. Applied Psycholical Measure 1977, 1:385-401.
-
(1977)
Applied Psycholical Measure
, vol.1
, pp. 385-401
-
-
Radloff, L.S.1
-
36
-
-
0025952727
-
Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation
-
Rousseau F., Heitz D., Biancalana V., Blumenfeld S., Kretz C., Boue J., Mandel J. Direct diagnosis by DNA analysis of the fragile X syndrome of mental retardation. New England Journal of Medicine 1991, 325:1673-1681.
-
(1991)
New England Journal of Medicine
, vol.325
, pp. 1673-1681
-
-
Rousseau, F.1
Heitz, D.2
Biancalana, V.3
Blumenfeld, S.4
Kretz, C.5
Boue, J.6
Mandel, J.7
-
37
-
-
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., Stevenson R.E. Obstetrical and gynecological complications in fragile X carriers: A multicenter study. American Journal of Medical Genetics 1994, 51:400-402.
-
(1994)
American Journal of Medical Genetics
, 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
Stevenson, R.E.7
-
38
-
-
72749101714
-
The penetrance of marked cognitive impairment in older male carriers of the FMR1 Gene Premutation
-
Sevin M., Kutalik Z., Bergmann S., Vercelletto M., Renou P., Lamy E., Jacquemont S. The penetrance of marked cognitive impairment in older male carriers of the FMR1 Gene Premutation. Journal of Medical Genetics 2009.
-
(2009)
Journal of Medical Genetics
-
-
Sevin, M.1
Kutalik, Z.2
Bergmann, S.3
Vercelletto, M.4
Renou, P.5
Lamy, E.6
Jacquemont, S.7
-
39
-
-
27644507366
-
Fragile X syndrome: Diagnostic and carrier testing
-
Sherman S., Pletcher B.A., Driscoll D.A. Fragile X syndrome: Diagnostic and carrier testing. Genet Med 2005, 7:584-587.
-
(2005)
Genet Med
, vol.7
, pp. 584-587
-
-
Sherman, S.1
Pletcher, B.A.2
Driscoll, D.A.3
-
41
-
-
14044268841
-
Association of FMR1 repeat size with ovarian dysfunction
-
Sullivan A.K., Marcus M., Epstein M.P., Allen E.G., Anido A.E., Paquin J.J., Sherman S.L. Association of FMR1 repeat size with ovarian dysfunction. Human Reproduction 2005, 20:402-412.
-
(2005)
Human Reproduction
, vol.20
, pp. 402-412
-
-
Sullivan, A.K.1
Marcus, M.2
Epstein, M.P.3
Allen, E.G.4
Anido, A.E.5
Paquin, J.J.6
Sherman, S.L.7
-
42
-
-
0004298856
-
-
Multi-Health Systems, Inc., Toronto, Ontario
-
Turner D., Biedel S.M. Social phobia and anxiety inventory: Manual 1996, Multi-Health Systems, Inc., Toronto, Ontario.
-
(1996)
Social phobia and anxiety inventory: Manual
-
-
Turner, D.1
Biedel, S.M.2
-
45
-
-
0022673130
-
Longitudinal data analysis for discrete and continuous outcomes
-
Zeger S.L., Liang K.Y. Longitudinal data analysis for discrete and continuous outcomes. Biometrics 1986, 42:121-130.
-
(1986)
Biometrics
, vol.42
, pp. 121-130
-
-
Zeger, S.L.1
Liang, K.Y.2
|