-
1
-
-
0027375451
-
Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test
-
Brown WT, Houck GE Jr., Jeziorowska A, Levinson FN, Ding X, Dobkin C, Zhong N, Henderson J, Brooks SS, Jenkins EC. 1993. Rapid fragile X carrier screening and prenatal diagnosis using a nonradioactive PCR test. JAMA 270:1569-1575.
-
(1993)
JAMA
, vol.270
, pp. 1569-1575
-
-
Brown, W.T.1
Houck Jr., G.E.2
Jeziorowska, A.3
Levinson, F.N.4
Ding, X.5
Dobkin, C.6
Zhong, N.7
Henderson, J.8
Brooks, S.S.9
Jenkins, E.C.10
-
2
-
-
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
-
3
-
-
2342633210
-
Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay
-
Cagnoli C, Michielotto C, Matsuura T, Ashizawa T, Margolis RL, Holmes SE, Gellera C, Migone N, Brusco A. 2004. Detection of large pathogenic expansions in FRDA1, SCA10, and SCA12 genes using a simple fluorescent repeat-primed PCR assay. J Mol Diagn 6: 96-100.
-
(2004)
J Mol Diagn
, vol.6
, pp. 96-100
-
-
Cagnoli, C.1
Michielotto, C.2
Matsuura, T.3
Ashizawa, T.4
Margolis, R.L.5
Holmes, S.E.6
Gellera, C.7
Migone, N.8
Brusco, A.9
-
4
-
-
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 ML, 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 Mol Genet 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
-
5
-
-
0000224448
-
The Unified Parkinson's Disease Rating Scale
-
Fahn S, Marsden CD, Calne DB, Goldstein M, editors. Florham Park: Macmillam Healthcare Information
-
Fahn S, Elton RL, UPDRS Development Committee. 1987. The Unified Parkinson's Disease Rating Scale. In: Fahn S, Marsden CD, Calne DB, Goldstein M, editors. Recent developments in Parkinson's disease. Florham Park: Macmillam Healthcare Information, p 153-163, 293-304.
-
(1987)
Recent Developments in Parkinson's Disease
, pp. 153-163
-
-
Fahn, S.1
Elton, R.L.2
-
6
-
-
0141920804
-
Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population
-
Garcia Arocena D, Breece KE, Hagerman PJ. 2003. Distribution of CGG repeat sizes within the fragile X mental retardation 1 (FMR1) homologue in a non-human primate population. Hum Genet 113:371-376.
-
(2003)
Hum Genet
, vol.113
, pp. 371-376
-
-
Garcia Arocena, D.1
Breece, K.E.2
Hagerman, P.J.3
-
7
-
-
0036591683
-
The fragile X premutation: Into the phenotypic fold
-
Hagerman RJ, Hagerman PJ. 2002. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev 12:278-283.
-
(2002)
Curr Opin Genet Dev
, vol.12
, pp. 278-283
-
-
Hagerman, R.J.1
Hagerman, P.J.2
-
8
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X
-
Hagerman RJ, Leehey M, Heinrichs W, Tassone F, Wilson R, Hills J, Grigsby J, Gage B, Hagerman PJ. 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.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
-
9
-
-
2342453253
-
Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation
-
Hagerman RJ, Leavitt BR, Farzin F, Jacquemont S, Greco CM, Brunberg JA, Tassone F, Hessl D, Harris SW, Zhang L, Jardini T, Gane LW, Ferranti J, Ruiz L, Leehey MA, Grigsby J, Hagerman PJ. 2004. Fragile-X-associated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 74:1051-1056.
-
(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
-
10
-
-
9144252520
-
Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont S, Hagerman RJ, Leehey MA, Hall DA, Levine RA, Brunberg JA, Zhang L, Jardini T, Gane LW, Harris SW, Herman K, Grigsby J, Greco CM, Berry-Kravis E, Tassone F, Hagerman PJ. 2004. Penetrance of the fragile X-associated tremor/ataxia syndrome in a premutation carrier population. JAMA 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
-
11
-
-
0032885515
-
A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: A new polyglutamine disease?
-
Koide R, Kobayashi S, Shimohata T, Ikeuchi T, Maruyama M, Saito M, Yamada M, Takahashi H, Tsuji S. 1999. A neurological disease caused by an expanded CAG trinucleotide repeat in the TATA-binding protein gene: a new polyglutamine disease? Hum Mol Genet 8:2047-2053.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 2047-2053
-
-
Koide, R.1
Kobayashi, S.2
Shimohata, T.3
Ikeuchi, T.4
Maruyama, M.5
Saito, M.6
Yamada, M.7
Takahashi, H.8
Tsuji, S.9
-
12
-
-
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
-
13
-
-
0036725082
-
The spinocerebellar ataxias: Order emerges from chaos
-
Margolis RL. 2002. The spinocerebellar ataxias: order emerges from chaos. Curr Neurol Neurosci Rep 2:447-456.
-
(2002)
Curr Neurol Neurosci Rep
, vol.2
, pp. 447-456
-
-
Margolis, R.L.1
-
14
-
-
0033771685
-
Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10
-
Matsuura T, Yamagata T, Burgess DL, Rasmussen A, Grewal RP, Watase K, Khajavi M, McCall AE, Davis CF, Zu L, Achari M, Pulst SM, Alonso E, Noebels JL, Nelson DL, Zoghbi HY, Ashizawa T. 2000. Large expansion of the ATTCT pentanucleotide repeat in spinocerebellar ataxia type 10. Nat Genet 26:191-194.
-
(2000)
Nat Genet
, vol.26
, pp. 191-194
-
-
Matsuura, T.1
Yamagata, T.2
Burgess, D.L.3
Rasmussen, A.4
Grewal, R.P.5
Watase, K.6
Khajavi, M.7
McCall, A.E.8
Davis, C.F.9
Zu, L.10
Achari, M.11
Pulst, S.M.12
Alonso, E.13
Noebels, J.L.14
Nelson, D.L.15
Zoghbi, H.Y.16
Ashizawa, T.17
-
15
-
-
1542378696
-
Fragile X carrier screening and spinocerebellar ataxia in older males
-
Milunsky JM, Maher TA. 2004. Fragile X carrier screening and spinocerebellar ataxia in older males. Am J Med Genet 125A:320.
-
(2004)
Am J Med Genet
, vol.125 A
, pp. 320
-
-
Milunsky, J.M.1
Maher, T.A.2
-
16
-
-
0035393427
-
SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein
-
Nakamura K, Jeong SY, Uchihara T, Anno M, Nagashima K, Nagashima T, Ikeda S, Tsuji S, Kanazawa I. 2001. SCA17, a novel autosomal dominant cerebellar ataxia caused by an expanded polyglutamine in TATA-binding protein. Hum Mol Genet 10:1441-1448.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1441-1448
-
-
Nakamura, K.1
Jeong, S.Y.2
Uchihara, T.3
Anno, M.4
Nagashima, K.5
Nagashima, T.6
Ikeda, S.7
Tsuji, S.8
Kanazawa, I.9
-
17
-
-
0034902760
-
Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10
-
Rasmussen A, Matsuura T, Ruano L, Yescas P, Ochoa A, Ashizawa T, Alonso E. 2001. Clinical and genetic analysis of four Mexican families with spinocerebellar ataxia type 10. Ann Neurol 50:234-239.
-
(2001)
Ann Neurol
, vol.50
, pp. 234-239
-
-
Rasmussen, A.1
Matsuura, T.2
Ruano, L.3
Yescas, P.4
Ochoa, A.5
Ashizawa, T.6
Alonso, E.7
-
18
-
-
11144356369
-
Autosomal dominant cerebellar ataxias: Clinical features, genetics, and pathogenesis
-
Schols L, Bauer P, Schmidt T, Schulte T, Riess O. 2004. Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3:291-304.
-
(2004)
Lancet Neurol
, vol.3
, pp. 291-304
-
-
Schols, L.1
Bauer, P.2
Schmidt, T.3
Schulte, T.4
Riess, O.5
-
19
-
-
3242774429
-
Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort
-
Tan EK, Zhao Y, Puong KY, Law HY, Chan LL, Yew K, Tan C, Shen H, Chandran VR, Teoh ML, Yih Y, Pavanni R, Wong MC, Ng IS. 2004. Fragile X premutation alleles in SCA, ET, and parkinsonism in an Asian cohort. Neurology 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
-
20
-
-
7044274091
-
Clinical phenotype of Brazilian families with spinocerebellar ataxia 10
-
Teive HA, Roa BB, Raskin S, Fang P, Arruda WO, Neto YC, Gao R, Werneck LC, Ashizawa T. 2004. Clinical phenotype of Brazilian families with spinocerebellar ataxia 10. Neurology 63:1509-1512.
-
(2004)
Neurology
, vol.63
, pp. 1509-1512
-
-
Teive, H.A.1
Roa, B.B.2
Raskin, S.3
Fang, P.4
Arruda, W.O.5
Neto, Y.C.6
Gao, R.7
Werneck, L.C.8
Ashizawa, T.9
-
21
-
-
0030939011
-
International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome
-
The Ataxia Neuropharmacology Committee of the World Federation of Neurology
-
Trouillas P, Takayanagi T, Hallett M, Currier RD, Subramony SH, Wessel K, Bryer A, Diener HC, Massaquoi S, Gomez CM, Coutinho P, Ben Hamida M, Campanella G, Filla A, Schut L, Timann D, Honnorat J, Nighoghossian N, Manyam B. 1997. International Cooperative Ataxia Rating Scale for pharmacological assessment of the cerebellar syndrome. The Ataxia Neuropharmacology Committee of the World Federation of Neurology. J Neurol Sci 145:205-211.
-
(1997)
J Neurol Sci
, vol.145
, pp. 205-211
-
-
Trouillas, P.1
Takayanagi, T.2
Hallett, M.3
Currier, R.D.4
Subramony, S.H.5
Wessel, K.6
Bryer, A.7
Diener, H.C.8
Massaquoi, S.9
Gomez, C.M.10
Coutinho, P.11
Ben Hamida, M.12
Campanella, G.13
Filla, A.14
Schut, L.15
Timann, D.16
Honnorat, J.17
Nighoghossian, N.18
Manyam, B.19
-
22
-
-
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 JP, 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.P.9
Matthijs, G.10
-
23
-
-
12744259994
-
FMR1 premutation as a rare cause of late onset ataxiaEvidence for FXTAS in female carriers
-
Zuhlke C, Budnik A, Gehlken U, Dalski A, Purmann S, Naumann M, Schmidt M, Burk K, Schwinger E. 2004. FMR1 premutation as a rare cause of late onset ataxiaEvidence for FXTAS in female carriers. J Neurol 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
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