Abstract
Lingua originale | English |
---|---|
pagine (da-a) | 323-330 |
Numero di pagine | 8 |
Rivista | LANCET NEUROLOGY |
Volume | 11 |
DOI | |
Stato di pubblicazione | Pubblicato - 2012 |
Keywords
- Adolescent
- Adult
- Age of Onset
- Aged
- Aged, 80 and over
- Amyotrophic Lateral Sclerosis
- Child
- Child, Preschool
- Chromosomes, Human, Pair 9
- Cohort Studies
- Cross-Sectional Studies
- DNA Repeat Expansion
- Female
- Frontotemporal Dementia
- Genetic Loci
- Genotype
- Humans
- Male
- Middle Aged
- Open Reading Frames
- Young Adult
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Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study. / Sabatelli, Mario; Majounie, Elisa; Renton, Alan E.; Mok, Kin; Dopper, Elise G.P.; Waite, Adrian; Rollinson, Sara; Chiò, Adriano; Restagno, Gabriella; Nicolaou, Nayia; Simon-Sanchez, Javier; Van Swieten, John C.; Abramzon, Yevgeniya; Johnson, Janel O.; Sendtner, Michael; Pamphlett, Roger; Orrell, Richard W.; Mead, Simon; Sidle, Katie C.; Houlden, Henry; Rohrer, Jonathan D.; Morrison, Karen E.; Pall, Hardev; Talbot, Kevin; Ansorge, Olaf; Hernandez, Dena G.; Arepalli, Sampath; Mora, Gabriele; Corbo, Massimo; Giannini, Fabio; Calvo, Andrea; Englund, Elisabet; Borghero, Giuseppe; Floris, Gian Luca; Remes, Anne M; Laaksovirta, Hannu; Mccluskey, Leo; Trojanowski, John Q.; Van Deerlin, Vivianna M.; Schellenberg, Gerard D.; Nalls, Michael A; Drory, Vivian E; Lu, Chin-Song; Yeh, Tu-Hsueh; Ishiura, Hiroyuki; Takahashi, Yuji; Tsuji, Shoji; Le Ber, Isabelle; Brice, Alexis; Drepper, Carsten; Williams, Nigel; Kirby, Janine; Shaw, Pamela; Hardy, John; Tienari, Pentti J.; Heutink, Peter; Morris, Huw R.; Pickering-Brown, Stuart; Traynor, Bryan J; Adamson, Gary; Bayer, Antony J.; Beck, John; Callister, Janis Bennion; Blake, Derek J.; Blumen, Sergiu C.; Collinge, John; Dunckley, Travis; Ealing, John; East, Simon; Elman, Lauren; Gerhard, Alexander; Guerreiro, Rita J.; Gwinn, Katrina; Halliwell, Nicola; Hamdalla, Hisham H.; Hewitt, Christopher; Ince, Paul; Jablonka, Sibylle; James, Christopher; Kent, Louisa; Knock, Jonathan Cooper; Lynch, Timothy; Mahoney, Colin; Mann, David; Neal, James; Norris, David; O’Dowd, Sean; Richardson, Anna; Rossor, Martin; Rothstein, Jeffrey; Scholz, Sonja W.; Snowden, Julie; Stephan, Dietrich A.; Toulson, Greg; Turner, Martin R; Warren, Jason D.; Young, Kate; Weng, Yi-Hsin; Kuo, Hung-Chou; Lai, Szu-Chia; Huang, Chia-Ling; Camuzat, Agnès; Entraingues, Léna; Guillot-Noël; Verpillat, Patrice; Blanc, Frédéric.
In: LANCET NEUROLOGY, Vol. 11, 2012, pag. 323-330.Risultato della ricerca: Contributo in rivista › Articolo in rivista
TY - JOUR
T1 - Frequency of the C9orf72 hexanucleotide repeat expansion in patients with amyotrophic lateral sclerosis and frontotemporal dementia: a cross-sectional study
AU - Sabatelli, Mario
AU - Majounie, Elisa
AU - Renton, Alan E.
AU - Mok, Kin
AU - Dopper, Elise G.P.
AU - Waite, Adrian
AU - Rollinson, Sara
AU - Chiò, Adriano
AU - Restagno, Gabriella
AU - Nicolaou, Nayia
AU - Simon-Sanchez, Javier
AU - Van Swieten, John C.
AU - Abramzon, Yevgeniya
AU - Johnson, Janel O.
AU - Sendtner, Michael
AU - Pamphlett, Roger
AU - Orrell, Richard W.
AU - Mead, Simon
AU - Sidle, Katie C.
AU - Houlden, Henry
AU - Rohrer, Jonathan D.
AU - Morrison, Karen E.
AU - Pall, Hardev
AU - Talbot, Kevin
AU - Ansorge, Olaf
AU - Hernandez, Dena G.
AU - Arepalli, Sampath
AU - Mora, Gabriele
AU - Corbo, Massimo
AU - Giannini, Fabio
AU - Calvo, Andrea
AU - Englund, Elisabet
AU - Borghero, Giuseppe
AU - Floris, Gian Luca
AU - Remes, Anne M
AU - Laaksovirta, Hannu
AU - Mccluskey, Leo
AU - Trojanowski, John Q.
AU - Van Deerlin, Vivianna M.
AU - Schellenberg, Gerard D.
AU - Nalls, Michael A
AU - Drory, Vivian E
AU - Lu, Chin-Song
AU - Yeh, Tu-Hsueh
AU - Ishiura, Hiroyuki
AU - Takahashi, Yuji
AU - Tsuji, Shoji
AU - Le Ber, Isabelle
AU - Brice, Alexis
AU - Drepper, Carsten
AU - Williams, Nigel
AU - Kirby, Janine
AU - Shaw, Pamela
AU - Hardy, John
AU - Tienari, Pentti J.
AU - Heutink, Peter
AU - Morris, Huw R.
AU - Pickering-Brown, Stuart
AU - Traynor, Bryan J
AU - Adamson, Gary
AU - Bayer, Antony J.
AU - Beck, John
AU - Callister, Janis Bennion
AU - Blake, Derek J.
AU - Blumen, Sergiu C.
AU - Collinge, John
AU - Dunckley, Travis
AU - Ealing, John
AU - East, Simon
AU - Elman, Lauren
AU - Gerhard, Alexander
AU - Guerreiro, Rita J.
AU - Gwinn, Katrina
AU - Halliwell, Nicola
AU - Hamdalla, Hisham H.
AU - Hewitt, Christopher
AU - Ince, Paul
AU - Jablonka, Sibylle
AU - James, Christopher
AU - Kent, Louisa
AU - Knock, Jonathan Cooper
AU - Lynch, Timothy
AU - Mahoney, Colin
AU - Mann, David
AU - Neal, James
AU - Norris, David
AU - O’Dowd, Sean
AU - Richardson, Anna
AU - Rossor, Martin
AU - Rothstein, Jeffrey
AU - Scholz, Sonja W.
AU - Snowden, Julie
AU - Stephan, Dietrich A.
AU - Toulson, Greg
AU - Turner, Martin R
AU - Warren, Jason D.
AU - Young, Kate
AU - Weng, Yi-Hsin
AU - Kuo, Hung-Chou
AU - Lai, Szu-Chia
AU - Huang, Chia-Ling
AU - Camuzat, Agnès
AU - Entraingues, Léna
AU - Guillot-Noël, null
AU - Verpillat, Patrice
AU - Blanc, Frédéric
PY - 2012
Y1 - 2012
N2 - We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
AB - We aimed to accurately estimate the frequency of a hexanucleotide repeat expansion in C9orf72 that has been associated with a large proportion of cases of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD).
KW - Adolescent
KW - Adult
KW - Age of Onset
KW - Aged
KW - Aged, 80 and over
KW - Amyotrophic Lateral Sclerosis
KW - Child
KW - Child, Preschool
KW - Chromosomes, Human, Pair 9
KW - Cohort Studies
KW - Cross-Sectional Studies
KW - DNA Repeat Expansion
KW - Female
KW - Frontotemporal Dementia
KW - Genetic Loci
KW - Genotype
KW - Humans
KW - Male
KW - Middle Aged
KW - Open Reading Frames
KW - Young Adult
KW - Adolescent
KW - Adult
KW - Age of Onset
KW - Aged
KW - Aged, 80 and over
KW - Amyotrophic Lateral Sclerosis
KW - Child
KW - Child, Preschool
KW - Chromosomes, Human, Pair 9
KW - Cohort Studies
KW - Cross-Sectional Studies
KW - DNA Repeat Expansion
KW - Female
KW - Frontotemporal Dementia
KW - Genetic Loci
KW - Genotype
KW - Humans
KW - Male
KW - Middle Aged
KW - Open Reading Frames
KW - Young Adult
UR - http://hdl.handle.net/10807/4511
U2 - 10.1016/S1474-4422(12)70043-1
DO - 10.1016/S1474-4422(12)70043-1
M3 - Article
VL - 11
SP - 323
EP - 330
JO - LANCET NEUROLOGY
JF - LANCET NEUROLOGY
SN - 1474-4422
ER -