Articles with public access mandates - Christel DepienneLearn more
OverallINSERMNIHDFGWellcomeNHMRCNIHRMRCFWOANREuropean CommissionSNSFZonMwBMBFGovernment of ItalyCIHRFRQSGovernment of SpainNSERCTelethonNWONCNDoDSwedish Research CouncilMotor Neurone Disease Association, UKParkinson's Foundation, USACZINSFGatesUSDAHHMIFNRSEMBLDNRFAcademy of FinlandMTAFCTAlzheimers's UKCancer Research UKParkinson's UKFondazione CariploFNRRCNDoris Duke Charitable FoundationKNAW
Not available anywhere: 13
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
Mandates: Research Foundation (Flanders), National Institute of Health and Medical …
PRRT2 mutations cause hemiplegic migraine
F Riant, E Roze, C Barbance, A Meneret, L Guyant-Maréchal, C Lucas, ...
Neurology 79 (21), 2122-2124, 2012
Mandates: National Institute of Health and Medical Research, France
PRRT2 mutations and paroxysmal disorders
A Méneret, C Gaudebout, F Riant, M Vidailhet, C Depienne, E Roze
European journal of neurology 20 (6), 872-878, 2013
Mandates: National Institute of Health and Medical Research, France
PRRT2 mutations: A major cause of paroxysmal kinesigenic dyskinesia in the European population
A Méneret, D Grabli, C Depienne, C Gaudebout, F Picard, A Dürr, ...
Neurology 79 (2), 170-174, 2012
Mandates: Swiss National Science Foundation, Research Foundation (Flanders), National …
A novel DCC mutation and genetic heterogeneity in congenital mirror movements
C Depienne, M Cincotta, S Billot, D Bouteiller, S Groppa, V Brochard, ...
Neurology 76 (3), 260-264, 2011
Mandates: National Institute of Health and Medical Research, France
Familial cortical myoclonic tremor with epilepsy: the third locus (FCMTE3) maps to 5p
C Depienne, E Magnin, D Bouteiller, G Stevanin, C Saint-Martin, ...
Neurology 74 (24), 2000-2003, 2010
Mandates: National Institute of Health and Medical Research, France
Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11. 2–2q11. 2
L Henden, S Freytag, Z Afawi, S Baldassari, SF Berkovic, F Bisulli, ...
Human genetics 135, 1117-1125, 2016
Mandates: National Health and Medical Research Council, Australia
Novel GABRA2 variants in epileptic encephalopathy and intellectual disability with seizures
S Maljevic, B Keren, YH Aung, IC Forster, C Mignot, J Buratti, A Lafitte, ...
Brain 142 (5), e15-e15, 2019
Mandates: National Health and Medical Research Council, Australia, National Institute …
Proteomic and morphological insights and clinical presentation of two young patients with novel mutations of BVES (POPDC1)
A Gangfuß, A Hentschel, L Heil, M Gonzalez, A Schönecker, C Depienne, ...
Molecular Genetics and Metabolism 136 (3), 226-237, 2022
Mandates: Fondazione Telethon, Italy
Congenital mirror movements: no mutation in DNAL4 in 17 index cases
A Méneret, O Trouillard, M Vidailhet, C Depienne, E Roze
Journal of neurology 261, 2030-2031, 2014
Mandates: National Institute of Health and Medical Research, France
CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy
R Nabbout, C Depienne, M Chipaux, B Girard, I Souville, O Trouillard, ...
Epilepsy research 87 (1), 25-30, 2009
Mandates: National Institute of Health and Medical Research, France
MFSD2A-associated primary microcephaly-Expanding the clinical and mutational spectrum of this ultra-rare disease
K Khuller, G Yigit, CM Grijalva, J Altmueller, H Thiele, P Nürnberg, ...
European Journal of Medical Genetics 64 (10), 104310, 2021
Mandates: German Research Foundation
Non-coding repeat expansions associated with familial adult myoclonic epilepsy: a new paradigm of gene-independent monogenic disorders
T Kühnel, C Depienne
Neuroforum 28 (4), 223-232, 2022
Mandates: German Research Foundation
Available somewhere: 116
Analysis of shared heritability in common disorders of the brain
Brainstorm Consortium, V Anttila, B Bulik-Sullivan, HK Finucane, ...
Science 360 (6395), eaap8757, 2018
Mandates: US National Institutes of Health, Swedish Research Council, Alzheimers's UK …
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
Mandates: US National Institutes of Health, Swedish Research Council, UK Medical …
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
Mandates: German Research Foundation, National Institute of Health and Medical …
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
Mandates: National Institute of Health and Medical Research, France
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
Mandates: US National Institutes of Health
The phenotypic spectrum of SCN8A encephalopathy
J Larsen, GL Carvill, E Gardella, G Kluger, G Schmiedel, N Barisic, ...
Neurology 84 (5), 480-489, 2015
Mandates: US National Institutes of Health, National Health and Medical Research …
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
Mandates: US National Institutes of Health, Research Foundation (Flanders), German …
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