Standard
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. / Lee, J-M; Ramos, E M; Lee, J-H; Gillis, T; Mysore, J S; Hayden, M R; Warby, S C; Morrison, P; Nance, M; Ross, C A; Margolis, R L; Squitieri, F; Orobello, S; Di Donato, S; Gomez-Tortosa, E; Ayuso, C; Suchowersky, O; Trent, R J A; McCusker, E; Novelletto, A; Frontali, M; Jones, R; Ashizawa, T; Frank, S; Saint-Hilaire, M H; Hersch, S M; Rosas, H D; Lucente, D; Harrison, M B; Zanko, A; Abramson, R K; Marder, K; Sequeiros, J; Paulsen, J S; Landwehrmeyer, G B; Myers, R H; MacDonald, M E; Gusella, J F; Hasholt, Lis Frydenreich; Nørremølle, Anne; Nielsen, Jørgen Erik; PREDICT-HD study of the Huntington Study Group (HSG).
I:
Neurology, Bind 78, Nr. 10, 03.2012, s. 690-5.
Publikation: Bidrag til tidsskrift › Tidsskriftartikel › Forskning › fagfællebedømt
Harvard
Lee, J-M, Ramos, EM, Lee, J-H, Gillis, T, Mysore, JS, Hayden, MR, Warby, SC, Morrison, P, Nance, M, Ross, CA, Margolis, RL, Squitieri, F, Orobello, S, Di Donato, S, Gomez-Tortosa, E, Ayuso, C, Suchowersky, O, Trent, RJA, McCusker, E, Novelletto, A, Frontali, M, Jones, R, Ashizawa, T, Frank, S, Saint-Hilaire, MH, Hersch, SM, Rosas, HD, Lucente, D, Harrison, MB, Zanko, A, Abramson, RK, Marder, K, Sequeiros, J, Paulsen, JS, Landwehrmeyer, GB, Myers, RH, MacDonald, ME, Gusella, JF
, Hasholt, LF, Nørremølle, A, Nielsen, JE & PREDICT-HD study of the Huntington Study Group (HSG) 2012, '
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion',
Neurology, bind 78, nr. 10, s. 690-5.
https://doi.org/10.1212/WNL.0b013e318249f683APA
Lee, J-M., Ramos, E. M., Lee, J-H., Gillis, T., Mysore, J. S., Hayden, M. R., Warby, S. C., Morrison, P., Nance, M., Ross, C. A., Margolis, R. L., Squitieri, F., Orobello, S., Di Donato, S., Gomez-Tortosa, E., Ayuso, C., Suchowersky, O., Trent, R. J. A., McCusker, E., ... PREDICT-HD study of the Huntington Study Group (HSG) (2012).
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Neurology,
78(10), 690-5.
https://doi.org/10.1212/WNL.0b013e318249f683Vancouver
Lee J-M, Ramos EM, Lee J-H, Gillis T, Mysore JS, Hayden MR o.a.
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion.
Neurology. 2012 mar.;78(10):690-5.
https://doi.org/10.1212/WNL.0b013e318249f683Author
Lee, J-M ; Ramos, E M ; Lee, J-H ; Gillis, T ; Mysore, J S ; Hayden, M R ; Warby, S C ; Morrison, P ; Nance, M ; Ross, C A ; Margolis, R L ; Squitieri, F ; Orobello, S ; Di Donato, S ; Gomez-Tortosa, E ; Ayuso, C ; Suchowersky, O ; Trent, R J A ; McCusker, E ; Novelletto, A ; Frontali, M ; Jones, R ; Ashizawa, T ; Frank, S ; Saint-Hilaire, M H ; Hersch, S M ; Rosas, H D ; Lucente, D ; Harrison, M B ; Zanko, A ; Abramson, R K ; Marder, K ; Sequeiros, J ; Paulsen, J S ; Landwehrmeyer, G B ; Myers, R H ; MacDonald, M E ; Gusella, J F ; Hasholt, Lis Frydenreich ; Nørremølle, Anne ; Nielsen, Jørgen Erik ; PREDICT-HD study of the Huntington Study Group (HSG). / CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion. I: Neurology. 2012 ; Bind 78, Nr. 10. s. 690-5.
Bibtex
@article{686c94dc758042cd87f8bc7f9b7a36d0,
title = "CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion",
abstract = "Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.",
keywords = "Adult, Age of Onset, Alleles, Female, Genotype, Humans, Huntington Disease, Male, Trinucleotide Repeat Expansion",
author = "J-M Lee and Ramos, {E M} and J-H Lee and T Gillis and Mysore, {J S} and Hayden, {M R} and Warby, {S C} and P Morrison and M Nance and Ross, {C A} and Margolis, {R L} and F Squitieri and S Orobello and {Di Donato}, S and E Gomez-Tortosa and C Ayuso and O Suchowersky and Trent, {R J A} and E McCusker and A Novelletto and M Frontali and R Jones and T Ashizawa and S Frank and Saint-Hilaire, {M H} and Hersch, {S M} and Rosas, {H D} and D Lucente and Harrison, {M B} and A Zanko and Abramson, {R K} and K Marder and J Sequeiros and Paulsen, {J S} and Landwehrmeyer, {G B} and Myers, {R H} and MacDonald, {M E} and Gusella, {J F} and Hasholt, {Lis Frydenreich} and Anne N{\o}rrem{\o}lle and Nielsen, {J{\o}rgen Erik} and {PREDICT-HD study of the Huntington Study Group (HSG)}",
year = "2012",
month = mar,
doi = "10.1212/WNL.0b013e318249f683",
language = "English",
volume = "78",
pages = "690--5",
journal = "Neurology",
issn = "0028-3878",
publisher = "Lippincott Williams & Wilkins",
number = "10",
}
RIS
TY - JOUR
T1 - CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
AU - Lee, J-M
AU - Ramos, E M
AU - Lee, J-H
AU - Gillis, T
AU - Mysore, J S
AU - Hayden, M R
AU - Warby, S C
AU - Morrison, P
AU - Nance, M
AU - Ross, C A
AU - Margolis, R L
AU - Squitieri, F
AU - Orobello, S
AU - Di Donato, S
AU - Gomez-Tortosa, E
AU - Ayuso, C
AU - Suchowersky, O
AU - Trent, R J A
AU - McCusker, E
AU - Novelletto, A
AU - Frontali, M
AU - Jones, R
AU - Ashizawa, T
AU - Frank, S
AU - Saint-Hilaire, M H
AU - Hersch, S M
AU - Rosas, H D
AU - Lucente, D
AU - Harrison, M B
AU - Zanko, A
AU - Abramson, R K
AU - Marder, K
AU - Sequeiros, J
AU - Paulsen, J S
AU - Landwehrmeyer, G B
AU - Myers, R H
AU - MacDonald, M E
AU - Gusella, J F
AU - Hasholt, Lis Frydenreich
AU - Nørremølle, Anne
AU - Nielsen, Jørgen Erik
AU - PREDICT-HD study of the Huntington Study Group (HSG)
PY - 2012/3
Y1 - 2012/3
N2 - Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.
AB - Age at onset of diagnostic motor manifestations in Huntington disease (HD) is strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG repeat allele has been reported also to influence age at onset, in interaction with the expanded allele. Due to profound implications for disease mechanism and modification, we tested whether the normal allele, interaction between the expanded and normal alleles, or presence of a second expanded allele affects age at onset of HD motor signs.
KW - Adult
KW - Age of Onset
KW - Alleles
KW - Female
KW - Genotype
KW - Humans
KW - Huntington Disease
KW - Male
KW - Trinucleotide Repeat Expansion
U2 - 10.1212/WNL.0b013e318249f683
DO - 10.1212/WNL.0b013e318249f683
M3 - Journal article
C2 - 22323755
VL - 78
SP - 690
EP - 695
JO - Neurology
JF - Neurology
SN - 0028-3878
IS - 10
ER -
