-
1
-
-
68249113963
-
Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data
-
Tabrizi SJ, Langbehn DR, Leavitt BR et al. Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data. Lancet Neurol 2009: 8 (9): 791-801.
-
(2009)
Lancet Neurol
, vol.8
, Issue.9
, pp. 791-801
-
-
Tabrizi, S.J.1
Langbehn, D.R.2
Leavitt, B.R.3
-
2
-
-
0029997090
-
Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats
-
Rubinsztein DC, Leggo J, Coles R et al. Phenotypic characterization of individuals with 30-40 CAG repeats in the Huntington disease (HD) gene reveals HD cases with 36 repeats and apparently normal elderly individuals with 36-39 repeats. Am J Hum Genet 1996: 59 (1): 16-22.
-
(1996)
Am J Hum Genet
, vol.59
, Issue.1
, pp. 16-22
-
-
Rubinsztein, D.C.1
Leggo, J.2
Coles, R.3
-
3
-
-
0027480960
-
A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes
-
The Huntington's Disease Collaborative Research Group
-
The Huntington's Disease Collaborative Research Group. A novel gene containing a trinucleotide repeat that is expanded and unstable on Huntington's disease chromosomes. Cell 1993: 72 (6): 971-983.
-
(1993)
Cell
, vol.72
, Issue.6
, pp. 971-983
-
-
-
4
-
-
34247120606
-
The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset
-
Andresen JM, Gayan J, Djousse L et al. The relationship between CAG repeat length and age of onset differs for Huntington's disease patients with juvenile onset or adult onset. Ann Hum Genet 2007: 71 (Pt 3): 295-301.
-
(2007)
Ann Hum Genet
, vol.71
, Issue.PART 3
, pp. 295-301
-
-
Andresen, J.M.1
Gayan, J.2
Djousse, L.3
-
5
-
-
0027240431
-
Trinucleotide repeat length instability and age of onset in Huntington's disease
-
Duyao M, Ambrose C, Myers R et al. Trinucleotide repeat length instability and age of onset in Huntington's disease. Nat Genet 1993: 4 (4): 387-392.
-
(1993)
Nat Genet
, vol.4
, Issue.4
, pp. 387-392
-
-
Duyao, M.1
Ambrose, C.2
Myers, R.3
-
6
-
-
31544447731
-
Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease?
-
Squitieri F, Frati L, Ciarmiello A, Lastoria S, Quarrell O. Juvenile Huntington's disease: does a dosage-effect pathogenic mechanism differ from the classical adult disease? Mech Ageing Dev 2006: 127 (2): 208-212.
-
(2006)
Mech Ageing Dev
, vol.127
, Issue.2
, pp. 208-212
-
-
Squitieri, F.1
Frati, L.2
Ciarmiello, A.3
Lastoria, S.4
Quarrell, O.5
-
7
-
-
0033941655
-
Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis
-
Squitieri F, Berardelli A, Nargi E et al. Atypical movement disorders in the early stages of Huntington's disease: clinical and genetic analysis. Clin Genet 2000: 58 (1): 50-56.
-
(2000)
Clin Genet
, vol.58
, Issue.1
, pp. 50-56
-
-
Squitieri, F.1
Berardelli, A.2
Nargi, E.3
-
8
-
-
0942290682
-
The gender effect in juvenile Huntington disease patients of Italian origin
-
125B
-
Cannella M, Gellera C, Maglione V et al. The gender effect in juvenile Huntington disease patients of Italian origin. Am J Med Genet B Neuropsychiatr Genet 2004: 125B (1): 92-98.
-
(2004)
Am J Med Genet B Neuropsychiatr Genet
, Issue.1
, pp. 92-98
-
-
Cannella, M.1
Gellera, C.2
Maglione, V.3
-
9
-
-
84856963229
-
Age, CAG repeat length, and clinical progression in Huntington's disease
-
Rosenblatt A, Kumar BV, Mo A, Welsh CS, Margolis RL, Ross CA. Age, CAG repeat length, and clinical progression in Huntington's disease. Mov Disord 2012: 27 (2): 272-276.
-
(2012)
Mov Disord
, vol.27
, Issue.2
, pp. 272-276
-
-
Rosenblatt, A.1
Kumar, B.V.2
Mo, A.3
Welsh, C.S.4
Margolis, R.L.5
Ross, C.A.6
-
10
-
-
0034847765
-
Juvenile onset Huntington's disease - clinical and research perspectives
-
Nance MA, Myers RH. Juvenile onset Huntington's disease - clinical and research perspectives. Ment Retard Dev Disabil Res Rev 2001: 7 (3): 153-157.
-
(2001)
Ment Retard Dev Disabil Res Rev
, vol.7
, Issue.3
, pp. 153-157
-
-
Nance, M.A.1
Myers, R.H.2
-
11
-
-
84876675051
-
EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease
-
DOI: 10.1038/ejhg.2012.200
-
Losekoot M, van Belzen MJ, Seneca S, Bauer P, Stenhouse SA, Barton DE. EMQN/CMGS best practice guidelines for the molecular genetic testing of Huntington disease. Eur J Hum Genet 2012. DOI: 10.1038/ejhg.2012.200.
-
(2012)
Eur J Hum Genet
-
-
Losekoot, M.1
van Belzen, M.J.2
Seneca, S.3
Bauer, P.4
Stenhouse, S.A.5
Barton, D.E.6
-
12
-
-
33646457048
-
Clinical presentation of juvenile Huntington disease
-
Ruocco HH, Lopes-Cendes I, Laurito TL, Li LM, Cendes F. Clinical presentation of juvenile Huntington disease. Arq Neuropsiquiatr 2006: 64 (1): 5-9.
-
(2006)
Arq Neuropsiquiatr
, vol.64
, Issue.1
, pp. 5-9
-
-
Ruocco, H.H.1
Lopes-Cendes, I.2
Laurito, T.L.3
Li, L.M.4
Cendes, F.5
-
13
-
-
84871770169
-
Seizures in juvenile Huntington's disease: Frequency and characterization in a multicenter cohort
-
Cloud LJ, Rosenblatt A, Margolis RL et al. Seizures in juvenile Huntington's disease: Frequency and characterization in a multicenter cohort. Mov Disord 2012: 27 (14): 1797-1800.
-
(2012)
Mov Disord
, vol.27
, Issue.14
, pp. 1797-1800
-
-
Cloud, L.J.1
Rosenblatt, A.2
Margolis, R.L.3
-
14
-
-
34250327141
-
Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients
-
Ribai P, Nguyen K, Hahn-Barma V et al. Psychiatric and cognitive difficulties as indicators of juvenile huntington disease onset in 29 patients. Arch Neurol 2007: 64 (6): 813-819.
-
(2007)
Arch Neurol
, vol.64
, Issue.6
, pp. 813-819
-
-
Ribai, P.1
Nguyen, K.2
Hahn-Barma, V.3
-
15
-
-
33645970699
-
Intergeneration CAG expansion and contraction in a Chinese HD family
-
141B
-
Tang Y, Wang Y, Yang P et al. Intergeneration CAG expansion and contraction in a Chinese HD family. Am J Med Genet B Neuropsychiatr Genet 2006: 141B (3): 242-244.
-
(2006)
Am J Med Genet B Neuropsychiatr Genet
, Issue.3
, pp. 242-244
-
-
Tang, Y.1
Wang, Y.2
Yang, P.3
-
16
-
-
53149087087
-
Excessive blinking as an initial manifestation of juvenile Huntington's disease
-
Xing S, Chen L, Chen X, Pei Z, Zeng J, Li J. Excessive blinking as an initial manifestation of juvenile Huntington's disease. Neurol Sci 2008: 29 (4): 275-277.
-
(2008)
Neurol Sci
, vol.29
, Issue.4
, pp. 275-277
-
-
Xing, S.1
Chen, L.2
Chen, X.3
Pei, Z.4
Zeng, J.5
Li, J.6
-
17
-
-
84874959729
-
Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia
-
DOI: 10.1111/j.1399-0004.2012.01927.x
-
Dong Y, Sun YM, Liu ZJ, Ni W, Shi SS, Wu ZY. Chinese patients with Huntington's disease initially presenting with spinocerebellar ataxia. Clin Genet 2012. DOI: 10.1111/j.1399-0004.2012.01927.x.
-
(2012)
Clin Genet
-
-
Dong, Y.1
Sun, Y.M.2
Liu, Z.J.3
Ni, W.4
Shi, S.S.5
Wu, Z.Y.6
-
18
-
-
84867498954
-
The prevalence of Juvenile Huntington's disease: a review of the literature and meta-analysis
-
DOI: 10.1371/4f8606b742ef3
-
Quarrell O, O'Donovan KL, Bandmann O, Strong M. The prevalence of Juvenile Huntington's disease: a review of the literature and meta-analysis. PLoS Curr 2012. DOI: 10.1371/4f8606b742ef3.
-
(2012)
PLoS Curr
-
-
Quarrell, O.1
O'Donovan, K.L.2
Bandmann, O.3
Strong, M.4
-
19
-
-
0030726155
-
Genetic testing of children at risk for Huntington's disease. US Huntington Disease Genetic Testing Group
-
Nance MA. Genetic testing of children at risk for Huntington's disease. US Huntington Disease Genetic Testing Group. Neurology 1997: 49 (4): 1048-1053.
-
(1997)
Neurology
, vol.49
, Issue.4
, pp. 1048-1053
-
-
Nance, M.A.1
-
20
-
-
84862768602
-
Juvenile Huntington's disease presenting as difficult-to-treat seizure and the first episode of psychosis
-
Chuo YP, Hou PH, Chan CH, Lin CC, Liao YC. Juvenile Huntington's disease presenting as difficult-to-treat seizure and the first episode of psychosis. Gen Hosp Psychiatry 2012: 34 (9): 436-439.
-
(2012)
Gen Hosp Psychiatry
, vol.34
, Issue.9
, pp. 436-439
-
-
Chuo, Y.P.1
Hou, P.H.2
Chan, C.H.3
Lin, C.C.4
Liao, Y.C.5
-
21
-
-
33745174181
-
Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature
-
Gonzalez-Alegre P, Afifi AK. Clinical characteristics of childhood-onset (juvenile) Huntington disease: report of 12 patients and review of the literature. J Child Neurol 2006: 21 (3): 223-229.
-
(2006)
J Child Neurol
, vol.21
, Issue.3
, pp. 223-229
-
-
Gonzalez-Alegre, P.1
Afifi, A.K.2
-
22
-
-
0033771298
-
Huntington disease in children: genotype-phenotype correlation
-
Rasmussen A, Macias R, Yescas P, Ochoa A, Davila G, Alonso E. Huntington disease in children: genotype-phenotype correlation. Neuropediatrics 2000: 31 (4): 190-194.
-
(2000)
Neuropediatrics
, vol.31
, Issue.4
, pp. 190-194
-
-
Rasmussen, A.1
Macias, R.2
Yescas, P.3
Ochoa, A.4
Davila, G.5
Alonso, E.6
-
23
-
-
63749106385
-
A patient with early onset Huntington disease and severe cerebellar atrophy
-
149A
-
Sakazume S, Yoshinari S, Oguma E et al. A patient with early onset Huntington disease and severe cerebellar atrophy. Am J Med Genet A 2009: 149A (4): 598-601.
-
(2009)
Am J Med Genet A
, Issue.4
, pp. 598-601
-
-
Sakazume, S.1
Yoshinari, S.2
Oguma, E.3
-
24
-
-
33749854930
-
Speech and language delay are early manifestations of juvenile-onset Huntington disease
-
Yoon G, Kramer J, Zanko A et al. Speech and language delay are early manifestations of juvenile-onset Huntington disease. Neurology 2006: 67 (7): 1265-1267.
-
(2006)
Neurology
, vol.67
, Issue.7
, pp. 1265-1267
-
-
Yoon, G.1
Kramer, J.2
Zanko, A.3
-
25
-
-
47349132531
-
Juvenile Huntington disease exacerbated by methylphenidate: case report
-
Waugh JL, Miller VS, Chudnow RS, Dowling MM. Juvenile Huntington disease exacerbated by methylphenidate: case report. J Child Neurol 2008: 23 (7): 807-809.
-
(2008)
J Child Neurol
, vol.23
, Issue.7
, pp. 807-809
-
-
Waugh, J.L.1
Miller, V.S.2
Chudnow, R.S.3
Dowling, M.M.4
-
26
-
-
24344482766
-
Juvenile onset Huntington disease resulting from a very large maternal expansion
-
137A
-
Nahhas FA, Garbern J, Krajewski KM, Roa BB, Feldman GL. Juvenile onset Huntington disease resulting from a very large maternal expansion. Am J Med Genet A 2005: 137A (3): 328-331.
-
(2005)
Am J Med Genet A
, Issue.3
, pp. 328-331
-
-
Nahhas, F.A.1
Garbern, J.2
Krajewski, K.M.3
Roa, B.B.4
Feldman, G.L.5
-
27
-
-
79953328501
-
Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume
-
155A
-
Nicolas G, Devys D, Goldenberg A et al. Juvenile Huntington disease in an 18-month-old boy revealed by global developmental delay and reduced cerebellar volume. Am J Med Genet A 2011: 155A (4): 815-818.
-
(2011)
Am J Med Genet A
, Issue.4
, pp. 815-818
-
-
Nicolas, G.1
Devys, D.2
Goldenberg, A.3
-
28
-
-
4444261958
-
MR imaging and spectroscopy in juvenile Huntington disease
-
Schapiro M, Cecil KM, Doescher J, Kiefer AM, Jones BV. MR imaging and spectroscopy in juvenile Huntington disease. Pediatr Radiol 2004: 34 (8): 640-643.
-
(2004)
Pediatr Radiol
, vol.34
, Issue.8
, pp. 640-643
-
-
Schapiro, M.1
Cecil, K.M.2
Doescher, J.3
Kiefer, A.M.4
Jones, B.V.5
-
29
-
-
77952312604
-
High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia
-
Gan SR, Shi SS, Wu JJ et al. High frequency of Machado-Joseph disease identified in southeastern Chinese kindreds with spinocerebellar ataxia. BMC Med Genet 2010: 11: 47.
-
(2010)
BMC Med Genet
, vol.11
, pp. 47
-
-
Gan, S.R.1
Shi, S.S.2
Wu, J.J.3
-
30
-
-
40749122969
-
Homozygosity enhances severity in spinocerebellar ataxia type 3
-
Carvalho DR, La Rocque-Ferreira A, Rizzo IM, Imamura EU, Speck-Martins CE. Homozygosity enhances severity in spinocerebellar ataxia type 3. Pediatr Neurol 2008: 38 (4): 296-299.
-
(2008)
Pediatr Neurol
, vol.38
, Issue.4
, pp. 296-299
-
-
Carvalho, D.R.1
La Rocque-Ferreira, A.2
Rizzo, I.M.3
Imamura, E.U.4
Speck-Martins, C.E.5
-
31
-
-
85009332113
-
Unified Huntington's Disease Rating Scale: reliability and consistency
-
Huntington Study Group
-
Huntington Study Group. Unified Huntington's Disease Rating Scale: reliability and consistency. Mov Disord 1996: 11 (2): 136-142.
-
(1996)
Mov Disord
, vol.11
, Issue.2
, pp. 136-142
-
-
-
32
-
-
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 et al. 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 1997: 145 (2): 205-211.
-
(1997)
J Neurol Sci
, vol.145
, Issue.2
, pp. 205-211
-
-
Trouillas, P.1
Takayanagi, T.2
Hallett, M.3
|