Следене
Marie Coutelier
Marie Coutelier
Потвърден имейл адрес: mail.mcgill.ca
Заглавие
Позовавания
Позовавания
Година
Stalled developmental programs at the root of pediatric brain tumors
S Jessa, A Blanchet-Cohen, B Krug, M Vladoiu, M Coutelier, D Faury, ...
Nature genetics 51 (12), 1702-1713, 2019
2492019
PNPLA6 mutations cause Boucher-Neuhäuser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum
M Synofzik, MA Gonzalez, CM Lourenco, M Coutelier, TB Haack, ...
Brain 137 (1), 69-77, 2014
2382014
Histone H3. 3G34-mutant interneuron progenitors co-opt PDGFRA for gliomagenesis
CCL Chen, S Deshmukh, S Jessa, D Hadjadj, V Lisi, AF Andrade, D Faury, ...
Cell 183 (6), 1617-1633. e22, 2020
1472020
A recurrent mutation in CACNA1G alters Cav3. 1 T-type calcium-channel conduction and causes autosomal-dominant cerebellar ataxia
M Coutelier, I Blesneac, A Monteil, ML Monin, K Ando, E Mundwiller, ...
The American Journal of Human Genetics 97 (5), 726-737, 2015
1302015
A panel study on patients with dominant cerebellar ataxia highlights the frequency of channelopathies
M Coutelier, G Coarelli, ML Monin, J Konop, CS Davoine, C Tesson, ...
Brain 140 (6), 1579-1594, 2017
1242017
Efficacy of exome-targeted capture sequencing to detect mutations in known cerebellar ataxia genes
M Coutelier, MB Hammer, G Stevanin, ML Monin, CS Davoine, F Mochel, ...
JAMA neurology 75 (5), 591-599, 2018
1162018
Defects in the CAPN1 gene result in alterations in cerebellar development and cerebellar ataxia in mice and humans
Y Wang, J Hersheson, D Lopez, M Hammer, Y Liu, KH Lee, V Pinto, ...
Cell reports 16 (1), 79-91, 2016
1052016
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
M Coutelier, C Goizet, A Durr, F Habarou, S Morais, A Dionne-Laporte, ...
Brain 138 (8), 2191-2205, 2015
1052015
PEDIA: prioritization of exome data by image analysis
TC Hsieh, MA Mensah, JT Pantel, D Aguilar, O Bar, A Bayat, ...
Genetics in Medicine 21 (12), 2807-2814, 2019
1012019
GRID2 mutations span from congenital to mild adult-onset cerebellar ataxia
M Coutelier, L Burglen, E Mundwiller, M Abada-Bendib, D Rodriguez, ...
Neurology 84 (17), 1751-1759, 2015
972015
K27M in canonical and noncanonical H3 variants occurs in distinct oligodendroglial cell lineages in brain midline gliomas
S Jessa, A Mohammadnia, AS Harutyunyan, M Hulswit, S Varadharajan, ...
Nature genetics 54 (12), 1865-1880, 2022
732022
Neuroserpin mutation causes electrical status epilepticus of slow-wave sleep
M Coutelier, S Andries, S Ghariani, B Dan, C Duyckaerts, ...
Neurology 71 (1), 64-66, 2008
702008
Severe dystonia, cerebellar atrophy, and cardiomyopathy likely caused by a missense mutation in TOR1AIP1
I Dorboz, M Coutelier, AT Bertrand, JH Caberg, M Elmaleh-Bergès, ...
Orphanet Journal of Rare Diseases 9, 1-6, 2014
532014
Mutations in TGM6 induce the unfolded protein response in SCA35
D Tripathy, B Vignoli, N Ramesh, MJ Polanco, M Coutelier, CD Stephen, ...
Human molecular genetics 26 (19), 3749-3762, 2017
472017
Clinical, neuropathological, and genetic characterization of STUB1 variants in cerebellar ataxias: a frequent cause of predominant cognitive impairment
T Roux, M Barbier, M Papin, CS Davoine, S Sayah, G Coarelli, P Charles, ...
Genetics in Medicine 22 (11), 1851-1862, 2020
462020
Combining callers improves the detection of copy number variants from whole-genome sequencing
M Coutelier, M Holtgrewe, M Jäger, R Flöttman, MA Mensah, ...
European Journal of Human Genetics 30 (2), 178-186, 2022
442022
Hereditary spastic paraplegias: identification of a novel SPG57 variant affecting TFG oligomerization and description of HSP subtypes in Sudan
LEO Elsayed, IN Mohammed, AAA Hamed, MA Elseed, A Johnson, ...
European Journal of Human Genetics 25 (1), 100-110, 2017
432017
Autosomal dominant cerebellar ataxias: new genes and progress towards treatments
G Coarelli, M Coutelier, A Durr
The Lancet Neurology 22 (8), 735-749, 2023
402023
SLC25A46 mutations associated with autosomal recessive cerebellar ataxia in North African families
MB Hammer, J Ding, F Mochel, G Eleuch-Fayache, P Charles, ...
Neurodegenerative diseases 17 (4-5), 208-212, 2017
342017
Clinical and genetic keys to cerebellar ataxia due to FGF14 GAA expansions
JL Méreaux, CS Davoine, D Pellerin, G Coarelli, M Coutelier, C Ewenczyk, ...
EBioMedicine 99, 2024
322024
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