-
1
-
-
0035838379
-
Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile x
-
Hagerman RJ, Leehey M, Heinrichs W, et al. 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
-
2
-
-
0037384643
-
Fragile x premutation tremor/ataxia syndrome: Molecular, clinical, and neuroimaging correlates
-
Jacquemont S, Hagerman RJ, Leehey M, et al. 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
-
3
-
-
36749009300
-
Fragile x-associated tremor/ataxia syndrome: Clinical features, genetics, and testing guidelines
-
quiz 2140
-
Berry-Kravis E, Abrams L, Coffey SM, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord 2007;22:2018-2030, quiz 2140.
-
(2007)
Mov Disord
, vol.22
, pp. 2018-2030
-
-
Berry-Kravis, E.1
Abrams, L.2
Coffey, S.M.3
-
4
-
-
23344450122
-
Fragile x-associated tremor/ataxia syndrome and movements disorders
-
Baba Y, Uitti RJ. Fragile X-associated tremor/ataxia syndrome and movements disorders. Curr Opin Neurol 2005; 18:393-398.
-
(2005)
Curr Opin Neurol
, vol.18
, pp. 393-398
-
-
Baba, Y.1
Uitti, R.J.2
-
5
-
-
2342453253
-
Fragile-xassociated tremor/ataxia syndrome (fxtas) in females with the fmr1 premutation
-
Hagerman RJ, Leavitt BR, Farzin F, et al. Fragile-Xassociated tremor/ataxia syndrome (FXTAS) in females with the FMR1 premutation. Am J Hum Genet 2004;74:1051-1056.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 1051-1056
-
-
Hagerman, R.J.1
Leavitt, B.R.2
Farzin, F.3
-
6
-
-
33845323746
-
Fragile-x syndrome and fragile x-associated tremor/ataxia syndrome: Two faces of fmr1
-
Jacquemont S, Hagerman RJ, Hagerman PJ, Leehey MA. Fragile-X syndrome and fragile X-associated tremor/ataxia syndrome: two faces of FMR1. Lancet Neurol 2007;6:45-55.
-
(2007)
Lancet Neurol
, vol.6
, pp. 45-55
-
-
Jacquemont, S.1
Hagerman, R.J.2
Hagerman, P.J.3
Leehey, M.4
-
7
-
-
9144252520
-
Penetrance of the fragile x-associated tremor/ataxia syndrome in a premutation carrier population
-
Jacquemont S, Hagerman RJ, Leehey MA, et al. 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
-
8
-
-
42249108884
-
Abnormal nerve conduction features in fragile x premutation carriers
-
Soontarapornchai K, Maselli R, Fenton-Farrell G, et al. Abnormal nerve conduction features in fragile X premutation carriers. Arch Neurol 2008;65:495-498.
-
(2008)
Arch Neurol
, vol.65
, pp. 495-498
-
-
Soontarapornchai, K.1
Maselli, R.2
Fenton-Farrell, G.3
-
9
-
-
84857132924
-
The autosomal recessive cerebellar ataxias
-
Anheim M, Tranchant C, Koenig M. The autosomal recessive cerebellar ataxias. N Engl J Med 2012;366:636-646.
-
(2012)
N Engl J Med
, vol.366
, pp. 636-646
-
-
Anheim, M.1
Tranchant, C.2
Koenig, M.3
-
10
-
-
0036846189
-
Fragile x premutation carriers: Characteristic mr imaging findings of adult male patients with progressive cerebellar and cognitive dysfunction
-
Brunberg JA, Jacquemont S, Hagerman RJ, et al. 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
-
11
-
-
58349111158
-
Parkinsonism in fmr1 premutation carriers may be indistinguishable from parkinson disease
-
Hall DA, Howard K, Hagerman R, Leehey MA. Parkinsonism in FMR1 premutation carriers may be indistinguishable from Parkinson disease. Parkinsonism Relat Disord 2009;15:156-159.
-
(2009)
Parkinsonism Relat Disord
, vol.15
, pp. 156-159
-
-
Hall, D.A.1
Howard, K.2
Hagerman, R.3
Leehey, M.4
-
12
-
-
2342635196
-
The fragile-x premutation: A maturing perspective
-
Hagerman PJ, Hagerman RJ. The fragile-X premutation: a maturing perspective. Am J Hum Genet 2004;74:805-816.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 805-816
-
-
Hagerman, P.J.1
Hagerman, R.J.2
-
13
-
-
65649138779
-
Peripheral nervous system pathology in fragile x tremor/ataxia syndrome (fxtas)
-
Gokden M, Al-Hinti JT, Harik SI. Peripheral nervous system pathology in fragile X tremor/ataxia syndrome (FXTAS). Neuropathology 2009;29:280-284.
-
(2009)
Neuropathology
, vol.29
, pp. 280-284
-
-
Gokden, M.1
Al-Hinti, J.T.2
Harik, S.I.3
-
14
-
-
34848862790
-
Neuropathy as a presenting feature in fragile x-associated tremor/ataxia syndrome
-
Hagerman RJ, Coffey SM, Maselli R, et al. Neuropathy as a presenting feature in fragile X-associated tremor/ataxia syndrome. Am J Med Genet A 2007;143A:2256-2260.
-
(2007)
Am J Med Genet A
, vol.143
, pp. 2256-2260
-
-
Hagerman, R.J.1
Coffey, S.M.2
Maselli, R.3
-
15
-
-
33745677486
-
Scale for the assessment and rating of ataxia: Development of a new clinical scale
-
Schmitz-Hubsch T, du Montcel ST, Baliko L, et al. Scale for the assessment and rating of ataxia: development of a new clinical scale. Neurology 2006;66:1717-1720.
-
(2006)
Neurology
, vol.66
, pp. 1717-1720
-
-
Schmitz-Hubsch, T.1
Du Montcel, S.T.2
Baliko, L.3
-
17
-
-
0016823810
-
Mini-mental state": A practical method for grading the cognitive state of patients for the clinician
-
Folstein MF, Folstein SE, McHugh PR. "Mini-mental state": a practical method for grading the cognitive state of patients for the clinician. J Psychiatr Res 1975;12:189-198.
-
(1975)
J Psychiatr Res
, vol.12
, pp. 189-198
-
-
Folstein, M.F.1
Folstein, S.E.2
McHugh, P.R.3
-
18
-
-
76549131779
-
Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from alsace, eastern france: Implications for clinical management
-
Anheim M, Fleury M, Monga B, et al. Epidemiological, clinical, paraclinical and molecular study of a cohort of 102 patients affected with autosomal recessive progressive cerebellar ataxia from Alsace, Eastern France: implications for clinical management. Neurogenetics 2010;11:1-12.
-
(2010)
Neurogenetics
, vol.11
, pp. 1-12
-
-
Anheim, M.1
Fleury, M.2
Monga, B.3
-
19
-
-
0031740582
-
Consensus statement of the movement disorder society on tremor: Ad hoc scientific committee
-
Deuschl G, Bain P, Brin M. Consensus statement of the Movement Disorder Society on Tremor: Ad Hoc Scientific Committee. Mov Disord 1998;13(suppl 3):2-23.
-
(1998)
Mov Disord
, vol.13
, Issue.SUPPL. 3
, pp. 2-23
-
-
Deuschl, G.1
Bain, P.2
Brin, M.3
-
20
-
-
0029421567
-
A framework for the analysis of mixed time series/point process data: Theory and application to the study of physiological tremor, single motor unit discharges and electromyograms
-
Halliday DM, Rosenberg JR, Amjad AM, Breeze P, Conway BA, Farmer SF. A framework for the analysis of mixed time series/point process data: theory and application to the study of physiological tremor, single motor unit discharges and electromyograms. Prog Biophys Mol Biol 1995;64:237-278.
-
(1995)
Prog Biophys Mol Biol
, vol.64
, pp. 237-278
-
-
Halliday, D.M.1
Rosenberg, J.R.2
Amjad, A.M.3
Breeze, P.4
Conway, B.A.5
Farmer, S.F.6
-
21
-
-
0034029152
-
Accurate differentiation of parkinsonism and essential tremor using visual assessment of [123i]-fp-cit spect imaging: The [123i]-fpcit study group
-
Benamer TS, Patterson J, Grosset DG, et al. Accurate differentiation of parkinsonism and essential tremor using visual assessment of [123I]-FP-CIT SPECT imaging: the [123I]-FPCIT study group. Mov Disord 2000;15:503-510.
-
(2000)
Mov Disord
, vol.15
, pp. 503-510
-
-
Benamer, T.S.1
Patterson, J.2
Grosset, D.G.3
-
22
-
-
0026345716
-
Variation of the cgg repeat at the fragile x site results in genetic instability: Resolution of the sherman paradox
-
Fu YH, Kuhl DP, Pizzuti A, et al. 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
-
23
-
-
78650840538
-
Report of a joint task force of the european federation of neurological societies and the peripheral nerve society: First revision
-
European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy
-
European Federation of Neurological Societies/Peripheral Nerve Society guideline on management of multifocal motor neuropathy. Report of a joint task force of the European Federation of Neurological Societies and the Peripheral Nerve Society: first revision. J Peripher Nerv Syst 2010;15:295-301.
-
(2010)
J Peripher Nerv Syst
, vol.15
, pp. 295-301
-
-
-
24
-
-
33750335320
-
Molecular and imaging correlates of the fragile x-associated tremor/ataxia syndrome
-
Cohen S, Masyn K, Adams J, et al. 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
-
25
-
-
42049113610
-
Fmr1 cgg repeat length predicts motor dysfunction in premutation carriers
-
Leehey MA, Berry-Kravis E, Goetz CG, et al. FMR1 CGG repeat length predicts motor dysfunction in premutation carriers. Neurology 2008;70:1397-1402.
-
(2008)
Neurology
, vol.70
, pp. 1397-1402
-
-
Leehey, M.A.1
Berry-Kravis, E.2
Goetz, C.G.3
-
26
-
-
77958587279
-
Motor and mental dysfunction in mother-daughter transmitted fxtas
-
Rodriguez-Revenga L, Pagonabarraga J, Gomez-Anson B, et al. Motor and mental dysfunction in mother-daughter transmitted FXTAS. Neurology 2010;75:1370-1376.
-
(2010)
Neurology
, vol.75
, pp. 1370-1376
-
-
Rodriguez-Revenga, L.1
Pagonabarraga, J.2
Gomez-Anson, B.3
-
27
-
-
34548209247
-
Volumetric brain changes in females with fragile x-associated tremor/ataxia syndrome (fxtas)
-
Adams JS, Adams PE, Nguyen D, et al. Volumetric brain changes in females with fragile X-associated tremor/ataxia syndrome (FXTAS). Neurology 2007;69:851-859.
-
(2007)
Neurology
, vol.69
, pp. 851-859
-
-
Adams, J.S.1
Adams, P.E.2
Nguyen, D.3
-
28
-
-
4444249398
-
Screen for expanded fmr1 alleles in patients with essential tremor
-
Garcia Arocena D, Louis ED, Tassone F, et al. 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
-
31
-
-
0035170591
-
The gait disorder of advanced essential tremor
-
Stolze H, Petersen G, Raethjen J, Wenzelburger R, Deuschl G. The gait disorder of advanced essential tremor. Brain 2001;124:2278-2286.
-
(2001)
Brain
, vol.124
, pp. 2278-2286
-
-
Stolze, H.1
Petersen, G.2
Raethjen, J.3
Wenzelburger, R.4
Deuschl, G.5
-
32
-
-
0036345801
-
Neuronal intranuclear inclusions in a new cerebellar tremor/ataxia syndrome among fragile x carriers
-
Greco CM, Hagerman RJ, Tassone F, et al. 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
-
33
-
-
69949179971
-
Torpedoes in parkinson's disease, alzheimer's disease, essential tremor, and control brains
-
Louis ED, Faust PL, Vonsattel JP, et al. Torpedoes in Parkinson's disease, Alzheimer's disease, essential tremor, and control brains. Mov Disord 2009;24:1600-1605.
-
(2009)
Mov Disord
, vol.24
, pp. 1600-1605
-
-
Louis, E.D.1
Faust, P.L.2
Vonsattel, J.P.3
-
34
-
-
77954987272
-
Gabaergic dysfunction in essential tremor: An 11c-flumazenil pet study
-
Boecker H, Weindl A, Brooks DJ, et al. GABAergic dysfunction in essential tremor: an 11C-flumazenil PET study. J Nucl Med 2010;51:1030-1035.
-
(2010)
J Nucl Med
, vol.51
, pp. 1030-1035
-
-
Boecker, H.1
Weindl, A.2
Brooks, D.J.3
-
35
-
-
0025053026
-
Preliminary report: Activation of the cerebellum in essential tremor
-
Colebatch JG, Findley LJ, Frackowiak RS, Marsden CD, Brooks DJ. Preliminary report: activation of the cerebellum in essential tremor. Lancet 1990;336:1028-1030.
-
(1990)
Lancet
, vol.336
, pp. 1028-1030
-
-
Colebatch, J.G.1
Findley, L.J.2
Frackowiak, R.S.3
Marsden, C.D.4
Brooks, D.J.5
-
36
-
-
30344473617
-
Neuropathology of fragile x-associated tremor/ataxia syndrome (fxtas)
-
Greco CM, Berman RF, Martin RM, et al. 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
-
37
-
-
77953735388
-
Ca(v)3.1 is a tremor rhythm pacemaker in the inferior olive
-
Park YG, Park HY, Lee CJ, et al. Ca(V)3.1 is a tremor rhythm pacemaker in the inferior olive. Proc Natl Acad Sci USA 2010;107:10731-10736.
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, pp. 10731-10736
-
-
Park, Y.G.1
Park, H.Y.2
Lee, C.J.3
-
38
-
-
79952500499
-
Pallidal dysfunction drives a cerebellothalamic circuit into parkinson tremor
-
Helmich RC, Janssen MJ, Oyen WJ, Bloem BR, Toni I. Pallidal dysfunction drives a cerebellothalamic circuit into Parkinson tremor. Ann Neurol 2011;69:269-281.
-
(2011)
Ann Neurol
, vol.69
, pp. 269-281
-
-
Helmich, R.C.1
Janssen, M.J.2
Oyen, W.J.3
Bloem, B.R.4
Toni, I.5
-
39
-
-
12744259994
-
Fmr1 premutation as a rare cause of late onset ataxia-evidence for fxtas in female carriers
-
Zuhlke C, Budnik A, Gehlken U, et al. FMR1 premutation as a rare cause of late 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
-
40
-
-
77958153723
-
Fmr1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients
-
Hall DA, Jennings D, Seibyl J, Tassone F, Marek K. FMR1 gene expansion and scans without evidence of dopaminergic deficits in parkinsonism patients. Parkinsonism Relat Disord 2010;16:608-611.
-
(2010)
Parkinsonism Relat Disord
, vol.16
, pp. 608-611
-
-
Hall, D.A.1
Jennings, D.2
Seibyl, J.3
Tassone, F.4
Marek, K.5
|