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Christel Depienne
Christel Depienne
Institut für Humangenetik, Universitätsklinikum Essen, University of Duisburg-Essen
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Cited by
Year
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
13602018
Genomic relationships, novel loci, and pleiotropic mechanisms across eight psychiatric disorders
PH Lee, V Anttila, H Won, YCA Feng, J Rosenthal, Z Zhu, EM Tucker-Drob, ...
Cell 179 (7), 1469-1482. e11, 2019
10252019
Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
CS Leblond, C Nava, A Polge, J Gauthier, G Huguet, S Lumbroso, ...
PLoS genetics 10 (9), e1004580, 2014
6162014
Sporadic Infantile Epileptic Encephalopathy Caused by Mutations in PCDH19 Resembles Dravet Syndrome but Mainly Affects Females
C Depienne, D Bouteiller, B Keren, E Cheuret, K Poirier, O Trouillard, ...
PLoS genetics 5 (2), e1000381, 2009
4442009
Spectrum of SCN1A gene mutations associated with Dravet syndrome: analysis of 333 patients
C Depienne, O Trouillard, C Saint-Martin, I Gourfinkel-An, D Bouteiller, ...
Journal of medical genetics 46 (3), 183-191, 2009
3942009
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies
S Appenzeller, R Balling, N Barisic, S Baulac, H Caglayan, D Craiu, ...
The American Journal of Human Genetics 95 (4), 360-370, 2014
3162014
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
2862015
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, U Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
2812015
Hereditary spastic paraplegias: an update
C Depienne, G Stevanin, A Brice, A Durr
Current opinion in neurology 20 (6), 674-680, 2007
2572007
Interrogating the genetic determinants of Tourette’s syndrome and other tic disorders through genome-wide association studies
D Yu, JH Sul, F Tsetsos, MS Nawaz, AY Huang, I Zelaya, C Illmann, ...
American Journal of Psychiatry 176 (3), 217-227, 2019
2532019
Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration
G Stevanin, H Azzedine, P Denora, A Boukhris, M Tazir, A Lossos, ...
Brain 131 (3), 772-784, 2008
2532008
De novo loss-of-function mutations in CHD2 cause a fever-sensitive myoclonic epileptic encephalopathy sharing features with Dravet syndrome
A Suls, JA Jaehn, A Kecskés, Y Weber, S Weckhuysen, DC Craiu, ...
The American Journal of Human Genetics 93 (5), 967-975, 2013
2472013
De novo mutations in HCN1 cause early infantile epileptic encephalopathy
C Nava, C Dalle, A Rastetter, P Striano, CGF de Kovel, R Nabbout, ...
Nature genetics 46 (6), 640-645, 2014
2452014
Annonacin, a natural mitochondrial complex I inhibitor, causes tau pathology in cultured neurons
M Escobar-Khondiker, M Höllerhage, MP Muriel, P Champy, A Bach, ...
Journal of Neuroscience 27 (29), 7827-7837, 2007
2242007
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects
K Platzer, H Yuan, H Schütz, A Winschel, W Chen, C Hu, H Kusumoto, ...
Journal of medical genetics 54 (7), 460-470, 2017
2212017
Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia
C Tesson, M Nawara, MAM Salih, R Rossignol, MS Zaki, M Al Balwi, ...
The American Journal of Human Genetics 91 (6), 1051-1064, 2012
2142012
30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?
C Depienne, JL Mandel
The American Journal of Human Genetics 108 (5), 764-785, 2021
1882021
Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting
S Klebe, G Stevanin, C Depienne
Revue neurologique 171 (6-7), 505-530, 2015
1882015
Delineating the GRIN1 phenotypic spectrum: A distinct genetic NMDA receptor encephalopathy
JR Lemke, K Geider, KL Helbig, HO Heyne, H Schütz, J Hentschel, ...
Neurology 86 (23), 2171-2178, 2016
1832016
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
S Klebe, C Depienne, S Gerber, G Challe, M Anheim, P Charles, ...
Brain 135 (10), 2980-2993, 2012
1832012
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