受强制性开放获取政策约束的文章 - Svetlana Gorokhova了解详情
无法在其他位置公开访问的文章：1 篇
HMGCS1 variants cause rigid spine syndrome amenable to mevalonic acid treatment in an animal model
LNH Dofash, LB Miles, Y Saito, E Rivas, V Calcinotto, S Oveissi, ...
Brain, awae371, 2024
强制性开放获取政策： National Health and Medical Research Council, Australia, Chan Zuckerberg …
可在其他位置公开访问的文章：23 篇
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
强制性开放获取政策： Swiss National Science Foundation
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
强制性开放获取政策： US National Institutes of Health, Howard Hughes Medical Institute, Federal …
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
强制性开放获取政策： National Institute of Health and Medical Research, France, Fondazione …
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
强制性开放获取政策： National Institute of Health and Medical Research, France
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
强制性开放获取政策： Fondazione Telethon, Italy
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
强制性开放获取政策： US National Institutes of Health
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
强制性开放获取政策： US National Institutes of Health, German Research Foundation, Wellcome Trust …
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
强制性开放获取政策： National Institute of Health and Medical Research, France
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
强制性开放获取政策： National Institute of Health and Medical Research, France
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
强制性开放获取政策： National Institute of Health and Medical Research, France, Fondazione …
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
强制性开放获取政策： National Institute of Health and Medical Research, France
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
强制性开放获取政策： Swiss National Science Foundation, US National Institutes of Health, German …
Genetic characterization of a French cohort of GNE‐mutation negative inclusion body myopathy patients with exome sequencing
M Cerino, S Gorokhova, P Laforet, R Ben Yaou, E Salort‐Campana, ...
Muscle & nerve 56 (5), 993-997, 2017
强制性开放获取政策： National Institute of Health and Medical Research, France
The dysferlin transcript containing the alternative exon 40a is essential for myocyte functions
O Ballouhey, S Courrier, V Kergourlay, S Gorokhova, M Cerino, M Krahn, ...
Frontiers in Cell and Developmental Biology 9, 754555, 2021
强制性开放获取政策： National Institute of Health and Medical Research, France, Fondazione …
Pathogenic TNNI1 variants disrupt sarcomere contractility resulting in hypo- and hypercontractile muscle disease
S Donkervoort, M van de Locht, D Ronchi, J Reunert, CA McLean, M Zaki, ...
Science Translational Medicine 16 (741), eadg2841, 2024
强制性开放获取政策： National Health and Medical Research Council, Australia, Netherlands …
Unusually severe muscular dystrophy upon in-frame deletion of the dystrophin rod domain and lack of compensation by membrane-localized utrophin
S Gorokhova, J Schessl, Y Zou, ML Yang, PT Heydemann, RL Sufit, ...
Med 4 (4), 245-251. e3, 2023
强制性开放获取政策： US National Institutes of Health
Biallelic variants in HMGCS1 are a novel cause of rare rigid spine syndrome
LNH Dofash, LB Miles, Y Saito, E Rivas, V Calcinotto, S Oveissi, ...
medRxiv, 2023.10. 25.23297129, 2023
强制性开放获取政策： US National Institutes of Health, National Health and Medical Research …
Inferring disease course from differential exon usage in the wide titinopathy spectrum
MF Di Feo, A Oghabian, E Nippala, M Gautel, H Jungbluth, F Forzano, ...
Annals of clinical and translational neurology 11 (10), 2745-2755, 2024
强制性开放获取政策： Academy of Finland, European Commission
TRAPPC2L-related disorder: first homozygous protein-truncating variant and further delineation of the phenotype
M Abaji, C Mignon-Ravix, S Gorokhova, P Cacciagli, J Mortreux, ...
Journal of Medical Genetics 60 (10), 1021-1025, 2023
强制性开放获取政策： Agence Nationale de la Recherche
出版信息和资助信息由计算机程序自动确定