Christel Depienne
Christel Depienne
Institut für Humangenetik, Universitätsklinikum Essen
Geverifieerd e-mailadres voor uni-due.de
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Analysis of shared heritability in common disorders of the brain
V Anttila, B Bulik-Sullivan, HK Finucane, RK Walters, J Bras, L Duncan, ...
Science 360 (6395), eaap8757, 2018
3872018
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), 2009
3032009
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), 2014
3012014
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
2782009
Hereditary spastic paraplegias: an update
C Depienne, G Stevanin, A Brice, A Durr
Current opinion in neurology 20 (6), 674-680, 2007
2282007
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
1932014
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
1922008
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
1612013
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
1592015
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
1562007
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
1502014
De novo loss-or gain-of-function mutations in KCNA2 cause epileptic encephalopathy
S Syrbe, UBS Hedrich, E Riesch, T Djémié, S Müller, RS Møller, B Maher, ...
Nature genetics 47 (4), 393-399, 2015
1442015
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
1392012
Autism, language delay and mental retardation in a patient with 7q11 duplication
C Depienne, D Héron, C Betancur, B Benyahia, O Trouillard, D Bouteiller, ...
Journal of medical genetics 44 (7), 452-458, 2007
1302007
Screening for genomic rearrangements and methylation abnormalities of the 15q11-q13 region in autism spectrum disorders
C Depienne, D Moreno-De-Luca, D Heron, D Bouteiller, A Gennetier, ...
Biological psychiatry 66 (4), 349-359, 2009
1292009
Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia
C Depienne, E Fedirko, S Forlani, C Cazeneuve, P Ribaï, I Feki, ...
Journal of medical genetics 44 (4), 281-284, 2007
1252007
Cellular distribution and karyophilic properties of matrix, integrase, and Vpr proteins from the human and simian immunodeficiency viruses
C Depienne, P Roques, C Créminon, L Fritsch, R Casseron, D Dormont, ...
Experimental cell research 260 (2), 387-395, 2000
1222000
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
1202012
Mechanisms for variable expressivity of inherited SCN1A mutations causing Dravet syndrome
C Depienne, O Trouillard, I Gourfinkel-An, C Saint-Martin, D Bouteiller, ...
Journal of medical genetics 47 (6), 404-410, 2010
1202010
Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study
C Depienne, M Bugiani, C Dupuits, D Galanaud, V Touitou, N Postma, ...
The Lancet Neurology 12 (7), 659-668, 2013
1192013
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