Cecile Cazeneuve
Overview
Explore the profile of Cecile Cazeneuve including associated specialties, affiliations and a list of published articles.
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50
Citations
1333
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Recent Articles
11.
Teyssou E, Muratet F, Amador M, Ferrien M, Lautrette G, Machat S, et al.
Neurobiol Aging
. 2020 Nov;
99:102.e11-102.e20.
PMID: 33218681
ANXA11 mutations have previously been discovered in amyotrophic lateral sclerosis (ALS) motor neuron disease. To confirm the contribution of ANXA11 mutations to ALS, a large exome data set obtained from...
12.
Gargouri Berrechid A, Bendjebara M, Bouteiller D, Nasri A, Peuvion J, Marie Y, et al.
Epileptic Disord
. 2019 Aug;
21(4):359-365.
PMID: 31368437
Unverricht-Lundborg disease (ULD), an autosomal recessive progressive myoclonus epilepsy, is due to an expansion, or less commonly a mutation, of the cystatin B (CSTB) gene. We report a clinical and...
13.
Fournier C, Barbier M, Camuzat A, Anquetil V, Lattante S, Clot F, et al.
Neurobiol Aging
. 2018 Oct;
74:234.e1-234.e8.
PMID: 30337192
A (GGGGCC) repeat expansion in C9orf72 gene is the major cause of frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS). The relations between the repeats size and the age at...
14.
Gargiulo M, Tezenas du Montcel S, Jutras M, Herson A, Cazeneuve C, Durr A
J Med Genet
. 2017 Jan;
54(8):511-520.
PMID: 28087720
Background: Following predictive testing for Huntington disease (HD), knowledge of one's carrier status may have consequences on disease onset. Our study aimed to address two questions. First, does knowledge of...
15.
Mariani L, Tesson C, Charles P, Cazeneuve C, Hahn V, Youssov K, et al.
JAMA Neurol
. 2016 Jul;
73(9):1105-14.
PMID: 27400454
Importance: Huntington disease (HD), a prototypic monogenic disease, is caused by an expanded CAG repeat in the HTT gene exceeding 35 units. However, not all patients with an HD phenotype...
16.
Bouchghoul H, Clement S, Vauthier D, Cazeneuve C, Noel S, Dommergues M, et al.
Eur J Hum Genet
. 2016 Jun;
24(11):1535-1540.
PMID: 27302844
The objective of this study was (1) to determine the impact of prenatal diagnosis (PND) for Huntington disease (HD) on subsequent reproductive choices and family structure; and (2) to assess...
17.
Thion M, Tezenas du Montcel S, Golmard J, Vacher S, Barjhoux L, Sornin V, et al.
Eur J Hum Genet
. 2016 Mar;
24(9):1310-5.
PMID: 26980106
The abnormal expansion of a ≥36 CAG unit tract in the Huntingtin gene (HTT) leads to Huntington's disease (HD), but has also been associated with cancer: the incidence of cancer...
18.
Le Ber I, de Septenville A, Millecamps S, Camuzat A, Caroppo P, Couratier P, et al.
Neurobiol Aging
. 2015 Oct;
36(11):3116.e5-3116.e8.
PMID: 26476236
TANK1-binding kinase 1 (TBK1) has been recently identified as a new amyotrophic lateral sclerosis (ALS) gene. Loss-of-function (LoF) mutations in TBK1 could be responsible for 0.4%-4% of ALS. Considering the...
19.
Monin M, Tezenas du Montcel S, Marelli C, Cazeneuve C, Charles P, Tallaksen C, et al.
Ann Clin Transl Neurol
. 2015 Mar;
2(2):202-7.
PMID: 25750924
Inherited spinocerebellar ataxias (SCAs) are known to be genetically and clinically heterogeneous. Whether severity and survival are variable, however, is not known. We, therefore, studied survival and severity in 446...
20.
Tezenas du Montcel S, Durr A, Bauer P, Figueroa K, Ichikawa Y, Brussino A, et al.
Brain
. 2014 Jun;
137(Pt 9):2444-55.
PMID: 24972706
Polyglutamine-coding (CAG)n repeat expansions in seven different genes cause spinocerebellar ataxias. Although the size of the expansion is negatively correlated with age at onset, it accounts for only 50-70% of...