关注
Svetlana Gorokhova
Svetlana Gorokhova
Marseille Medical Genetics, Genetics Department in Timone Children's Hospital, Marseille
在 univ-amu.fr 的电子邮件经过验证
标题
引用次数
引用次数
年份
Missense mutations in desmin associated with familial cardiac and skeletal myopathy
LG Goldfarb, KY Park, L Cervenáková, S Gorokhova, HS Lee, ...
Nature genetics 19 (4), 402-403, 1998
5841998
Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus
I Ibañez-Tallon, S Gorokhova, N Heintz
Human molecular genetics 11 (6), 715-721, 2002
2642002
A novel family of transmembrane proteins interacting with β subunits of the Na, K-ATPase
S Gorokhova, S Bibert, K Geering, N Heintz
Human molecular genetics 16 (20), 2394-2410, 2007
802007
Genetic variants in components of the NALCN–UNC80–UNC79 ion channel complex cause a broad clinical phenotype (NALCN channelopathies)
NC Bramswig, AM Bertoli-Avella, B Albrecht, AI Al Aqeel, A Alhashem, ...
Human genetics 137, 753-768, 2018
542018
Novel CAPN3 variant associated with an autosomal dominant calpainopathy
M Cerino, E Campana‐Salort, A Salvi, P Cintas, D Renard, ...
Neuropathology and applied neurobiology 46 (6), 564-578, 2020
252020
Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing
A Sevy, M Cerino, S Gorokhova, E Dionnet, Y Mathieu, A Verschueren, ...
Journal of Neurology, Neurosurgery & Psychiatry 87 (3), 340-342, 2016
252016
Comparing targeted exome and whole exome approaches for genetic diagnosis of neuromuscular disorders
S Gorokhova, M Cerino, Y Mathieu, S Courrier, JP Desvignes, D Salgado, ...
Applied & Translational Genomics 7, 26-31, 2015
212015
Direct evidence for the interaction of stathmin along the length and the plus end of microtubules in cells
R Nouar, G Breuzard, S Bastonero, S Gorokhova, P Barbier, F Devred, ...
FASEB Journal 30 (9), 3202-3215, 2016
182016
Retrospective analysis and reclassification of DYSF variants in a large French series of dysferlinopathy patients
T Charnay, V Blanck, M Cerino, M Bartoli, F Riccardi, N Bonello-Palot, ...
Genetics in Medicine 23 (8), 1574-1577, 2021
172021
Growth charts in Kabuki syndrome 1
V Ruault, C Corsini, C Duflos, S Akouete, V Georgescu, M Abaji, ...
American journal of medical genetics Part A 182 (3), 446-453, 2020
162020
Deep phenotyping of an international series of patients with late‐onset dysferlinopathy
G Fernández‐Eulate, G Querin, U Moore, A Behin, M Masingue, G Bassez, ...
European Journal of Neurology 28 (6), 2092-2102, 2021
142021
An AI-powered blood test to detect cancer using NanoDSF
PO Tsvetkov, R Eyraud, S Ayache, AA Bougaev, S Malesinski, H Benazha, ...
Cancers 13 (6), 1294, 2021
142021
Clinical massively parallel sequencing for the diagnosis of myopathies
S Gorokhova, V Biancalana, N Lévy, J Laporte, M Bartoli, M Krahn
Revue Neurologique 171 (6-7), 558-571, 2015
132015
Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay
E Dionnet, A Defour, N Da Silva, A Salvi, N Lévy, M Krahn, M Bartoli, ...
Human Mutation 41 (10), 1797-1810, 2020
122020
Novel pathogenic variants in a French cohort widen the mutational spectrum of GNE myopathy
M Cerino, S Gorokhova, A Béhin, JA Urtizberea, V Kergourlay, E Salvo, ...
Journal of Neuromuscular Diseases 2 (2), 131-136, 2015
122015
Uncoupling of molecular maturation from peripheral target innervation in nociceptors expressing a chimeric TrkA/TrkC receptor
S Gorokhova, S Gaillard, L Urien, P Malapert, W Legha, G Baronian, ...
PLoS genetics 10 (2), e1004081, 2014
122014
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort
PJ van der Sluijs, M Joosten, C Alby, T Attié-Bitach, K Gilmore, C Dubourg, ...
Genetics in Medicine 24 (8), 1753-1760, 2022
112022
BET1 variants establish impaired vesicular transport as a cause for muscular dystrophy with epilepsy
S Donkervoort, N Krause, M Dergai, P Yun, J Koliwer, S Gorokhova, ...
EMBO Molecular Medicine 13 (12), e13787, 2021
112021
Spindle-derived NT3 in sensorimotor connections: principal role at later stages
S Gorokhova, S Gaillard, E Gascon
Journal of Neuroscience 29 (33), 10181-10183, 2009
102009
Spliceosome malfunction causes neurodevelopmental disorders with overlapping features
D Li, Q Wang, A Bayat, MR Battig, Y Zhou, DGM Bosch, G van Haaften, ...
The Journal of Clinical Investigation 134 (1), 2024
82024
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