Publications by authors named "Svetlana Gorokhova"

17Publications

Refining NGS diagnosis of muscular disorders.

J Neurol Neurosurg Psychiatry 2020 Sep 15. Epub 2020 Sep 15.

Aix-Marseille Université, Inserm, U1251-MMG, Marseille Medical Genetics, Marseille, France.

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http://dx.doi.org/10.1136/jnnp-2018-319254DOI Listing
September 2020

Splicing impact of deep exonic missense variants in CAPN3 explored systematically by minigene functional assay.

Hum Mutat 2020 Jul 15. Epub 2020 Jul 15.

Faculté des Sciences Médicales et Paramédicales, Marseille Medical Genetics, Aix Marseille Université, INSERM, Marseille, France.

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http://dx.doi.org/10.1002/humu.24083DOI Listing
July 2020

Exploring species diversity and host plant associations of leaf-mining micromoths (Lepidoptera: Gracillariidae) in the Russian Far East using DNA barcoding.

Zootaxa 2019 Aug 7;4652(1):zootaxa.4652.1.1. Epub 2019 Aug 7.

Sukachev Institute of Forest, Siberian Branch of Russian Academy of Sciences, Federal Research Center Krasnoyarsk Science Center SB RAS, Krasnoyarsk, 660036, Russia Siberian Federal University, Krasnoyarsk, 660041, Russia INRA, UR0633 Zoologie Forestière, Orléans, F-45075, France..

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http://dx.doi.org/10.11646/zootaxa.4652.1.1DOI Listing
August 2019

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.

Muscle Nerve 2017 Nov 7;56(5):993-997. Epub 2017 Apr 7.

Aix Marseille University, GMGF, INSERM AMU UMR_S910, Faculté de Médecine de Marseille, 4e étage Aile Verte, 27 Boulevard Jean Moulin, 13385, Marseille Cedex 05, France.

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http://dx.doi.org/10.1002/mus.25638DOI Listing
November 2017

Direct evidence for the interaction of stathmin along the length and the plus end of microtubules in cells.

FASEB J 2016 09 9;30(9):3202-15. Epub 2016 Jun 9.

Aix Marseille Université, INSERM Unité Mixte de Recherche (UMR) 911, Center for Research in Oncobiology and Oncopharmacology (CRO2), Faculté de Pharmacie, Marseille, France, and

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http://dx.doi.org/10.1096/fj.201500125RDOI Listing
September 2016

Improving molecular diagnosis of distal myopathies by targeted next-generation sequencing.

J Neurol Neurosurg Psychiatry 2016 Mar 17;87(3):340-2. Epub 2015 Mar 17.

APHM, Department of Neurology, Neuromuscular and ALS Reference Center, La Timone University Hospital, Marseille, France Aix Marseille Université, INSERM, GMGF, Marseille, France.

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http://dx.doi.org/10.1136/jnnp-2014-309663DOI Listing
March 2016

Spindle-derived NT3 in sensorimotor connections: principal role at later stages.

J Neurosci 2009 Aug;29(33):10181-3

Developmental Biology Institute of Marseille Luminy, Marseille Cedex 9, France.

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http://dx.doi.org/10.1523/JNEUROSCI.2741-09.2009DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6665796PMC
August 2009

A novel family of transmembrane proteins interacting with beta subunits of the Na,K-ATPase.

Hum Mol Genet 2007 Oct 2;16(20):2394-410. Epub 2007 Jul 2.

Laboratory of Molecular Biology, Howard Hughes Medical Institute, The Rockefeller University, New York, NY 10021, USA.

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http://dx.doi.org/10.1093/hmg/ddm167DOI Listing
October 2007

Loss of function of axonemal dynein Mdnah5 causes primary ciliary dyskinesia and hydrocephalus.

Hum Mol Genet 2002 Mar;11(6):715-21

Howard Hughes Medical Institute, Laboratory of Molecular Biology, The Rockefeller University, New York, NY 10021, USA.

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http://dx.doi.org/10.1093/hmg/11.6.715DOI Listing
March 2002