Publications by authors named "Judith Melki"

69Publications

De novo mutations of are responsible for arthrogryposis broadening the -related phenotypes.

J Med Genet 2020 Sep 14. Epub 2020 Sep 14.

Institut National de la Santé et de la Recherche Médicale (Inserm), UMR-1195, Université Paris Saclay, Le Kremlin Bicêtre, 94276, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1136/jmedgenet-2020-107166DOI Listing
September 2020

KIF1C Variants Are Associated with Hypomyelination, Ataxia, Tremor, and Dystonia in Fraternal Twins.

Tremor Other Hyperkinet Mov (N Y) 2019 17;9. Epub 2019 Jul 17.

Department of Genetics, AP-HP, La Pitié-Salpêtrière University Hospital, Paris, FR.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.7916/tohm.v0.641DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6692767PMC
January 2020

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation.

Brain 2018 04;141(4):979-988

Institut National de la Santé et de la Recherche Médicale (Inserm) UMR-1169 and University Paris Sud, Le Kremlin Bicêtre, 94276, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awy020DOI Listing
April 2018

Biallelic mutation of UNC50, encoding a protein involved in AChR trafficking, is responsible for arthrogryposis.

Hum Mol Genet 2017 10;26(20):3989-3994

Institut National de la Santé et de la Recherche Médicale (Inserm) UMR-1169, Université Paris Sud, 94276 Le Kremlin Bicêtre, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddx288DOI Listing
October 2017

Spinal muscular atrophy associated with progressive myoclonus epilepsy.

Epileptic Disord 2016 Sep;18(S2):128-134

Unité mixte de recherche (UMR)-1169, Inserm and University Paris Sud, Le Kremlin Bicêtre, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1684/epd.2016.0858DOI Listing
September 2016

Early-onset chronic axonal neuropathy, strokes, and hemolysis: inherited CD59 deficiency.

Neurology 2015 Mar 25;84(12):1220-4. Epub 2015 Feb 25.

From the Departments of Pediatric Neurology (G.H., B.S., H.T.), Neurology (C.T.), Pediatric Hematology (B.T., M.C.), and Radiology (K.K.O.), Hacettepe University Ankara, Turkey; Unité Mixte de Recherche (UMR)-986 (J. Maluenda, J. Melki), Inserm and University Paris Sud; Hematology Laboratory (C.A., V.P.), AP-HP, CHU Bicêtre, France; and Centro Nacional de Análisis Genómico (I.G.), Barcelona, Spain.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1212/WNL.0000000000001391DOI Listing
March 2015

An atypical human induced pluripotent stem cell line with a complex, stable, and balanced genomic rearrangement including a large de novo 1q uniparental disomy.

Stem Cells Transl Med 2015 Mar 3;4(3):224-9. Epub 2015 Feb 3.

INSERM U972 and Unité Mixte de Recherche (UMR) S972, Université Paris-Sud, Paul Brousse Hospital, Villejuif, France; Département Hospitalo-universitaire Hepatinov, Paul Brousse Hospital, Villejuif, France;

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5966/sctm.2014-0186DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4339852PMC
March 2015

Messenger RNA- versus retrovirus-based induced pluripotent stem cell reprogramming strategies: analysis of genomic integrity.

Stem Cells Transl Med 2014 Jun 15;3(6):686-91. Epub 2014 Apr 15.

INSERM Unité Mixte de Recherche S972, Université Paris-Sud, Unité Mixte de Recherche S972, and Département Hospitalo-Universitaire Hepatinov, Paul Brousse Hospital, Villejuif, France; INSERM Unité Mixte de Recherche S986, Institut Fédératif de Recherche 93, Bicêtre Hospital, Kremlin-Bicêtre, France; Department of Cytogenetics, INSERM U935, Béclère Hospital, Clamart, France; Centros de Investigación Biomédica en Red de Diabetes y Obesidad, Centro de Investigación Principe Felipe, Eduardo Primo Yúfera 3, Valencia, Spain; Molecular Genetics Center, Centre National de la Recherche Scientifique, Unité Propre de Recherche 3404, Gif-sur-Yvette, Université Paris-Sud, Orsay, France

View Article

Download full-text PDF

Source
http://dx.doi.org/10.5966/sctm.2013-0158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4039453PMC
June 2014

Solving the puzzle of spinal muscular atrophy: what are the missing pieces?

Am J Med Genet A 2013 Nov 3;161A(11):2836-45. Epub 2013 Oct 3.

Istituto di Genetica Medica, Università Cattolica del Sacro Cuore, Roma, Italy.

View Article

Download full-text PDF

Source
http://doi.wiley.com/10.1002/ajmg.a.36251
Publisher Site
http://dx.doi.org/10.1002/ajmg.a.36251DOI Listing
November 2013

Spinal muscular atrophies.

Handb Clin Neurol 2013 ;113:1395-411

Hôpital Necker-Enfants Malades and Université Paris Descartes, Paris, France.

View Article

Download full-text PDF

Source
https://linkinghub.elsevier.com/retrieve/pii/B97804445956520
Publisher Site
http://dx.doi.org/10.1016/B978-0-444-59565-2.00010-1DOI Listing
March 2014

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.

Hum Mutat 2012 Jun 4;33(6):949-59. Epub 2012 Apr 4.

Department of Translational Medicine and Neurogenetics, Institut de Génétique et de Biologie Moléculaire et Cellulaire, INSERM U964/CNRS UMR7104, University of Strasbourg, Collège de France, Illkirch, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/humu.22067DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3374402PMC
June 2012

Three independent mutations in the TSC2 gene in a family with tuberous sclerosis.

Eur J Hum Genet 2009 Sep 4;17(9):1165-70. Epub 2009 Mar 4.

Centre Hospitalier Universitaire de Nantes, Service de Génétique Médicale, Nantes, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/ejhg.2009.28DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2874752PMC
September 2009

Spinal muscular atrophy.

Adv Exp Med Biol 2009 ;652:237-46

Department of Human Genetics, Hadassah University Hospital, PO Box 91120, Jerusalem, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1007/978-90-481-2813-6_16DOI Listing
April 2010

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

Am J Hum Genet 2009 Jan 24;84(1):80-4. Epub 2008 Dec 24.

Department of Human Genetics, Hadassah Hebrew University Hospital, POB 12000, Jerusalem, 91120, Israel.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ajhg.2008.12.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2668047PMC
January 2009

Refined characterization of the expression and stability of the SMN gene products.

Am J Pathol 2007 Oct 23;171(4):1269-80. Epub 2007 Aug 23.

Molecular Neurogenetics Laboratory, INSERM U798, Evry and Paris 11 Universities, Evry, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.2353/ajpath.2007.070399DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1988876PMC
October 2007

A sensitive assay for measuring SMN mRNA levels in peripheral blood and in muscle samples of patients affected with spinal muscular atrophy.

Eur J Hum Genet 2007 Oct 4;15(10):1054-62. Epub 2007 Jul 4.

Department of Genetics, Rouen University Hospital and INSERM U614, Institute for Biomedical Research, University of Rouen, Rouen, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1038/sj.ejhg.5201885DOI Listing
October 2007

Bone marrow transplantation attenuates the myopathic phenotype of a muscular mouse model of spinal muscular atrophy.

Stem Cells 2006 Dec 3;24(12):2723-32. Epub 2006 Aug 3.

Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale, Inserm, U798, Evry, F-91057 France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1634/stemcells.2006-0170DOI Listing
December 2006

Autosomal recessive spastic paraplegia (SPG30) with mild ataxia and sensory neuropathy maps to chromosome 2q37.3.

Brain 2006 Jun 24;129(Pt 6):1456-62. Epub 2006 Jan 24.

INSERM U679, Federative Institute for Neuroscience Research (IFR70), Salpetriere Hospital, Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/brain/awl012DOI Listing
June 2006

Activation of RNA metabolism-related genes in mouse but not human tissues deficient in SMN.

Physiol Genomics 2006 Jan 23;24(2):97-104. Epub 2005 Aug 23.

Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM), E-223, University of Evry, Genopole, Evry, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1152/physiolgenomics.00134.2005DOI Listing
January 2006

[Neuropathies and small heat shock proteins].

Med Sci (Paris) 2004 Dec;20(12):1073-5

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1051/medsci/200420121073DOI Listing
December 2004

Inter- and intrastrain variation in mouse critical running speed.

J Appl Physiol (1985) 2005 Apr 12;98(4):1258-63. Epub 2004 Nov 12.

Laboratory of Exercise Physiology, UFRSFA, Université d'Evry-Val d'Essonne Boulevard François Mitterrand, 94025 Evry Cedex France.

View Article

Download full-text PDF

Source
http://www.physiology.org/doi/10.1152/japplphysiol.00991.200
Publisher Site
http://dx.doi.org/10.1152/japplphysiol.00991.2004DOI Listing
April 2005

Peroxisome proliferator-activated receptor delta controls muscle development and oxidative capability.

FASEB J 2003 Dec 2;17(15):2299-301. Epub 2003 Oct 2.

Inserm U470, Centre de Biochimie, Parc Valrose, Université de Nice-Sophia Antipolis, 06108 Nice cedex 2, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1096/fj.03-0269fjeDOI Listing
December 2003

Riluzole attenuates spinal muscular atrophy disease progression in a mouse model.

Muscle Nerve 2003 Oct;28(4):432-7

Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Evry, EMI-0223, Genopole, 2 rue Gaston Crémieux, CP 5724, 91057 Evry, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.10455DOI Listing
October 2003

Therapeutic benefits of cardiotrophin-1 gene transfer in a mouse model of spinal muscular atrophy.

Hum Mol Genet 2003 Jun;12(11):1233-9

Cochin Institute, Department of Genetics, Development and Molecular Pathology, INSERM, CNRS and University René Descartes, 24 rue du Faubourg St Jacques, 75014 Paris, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddg143DOI Listing
June 2003

103rd ENMC international workshop: designing rational therapy of SMA based on the understanding of its pathophysiology, 18-20 January 2002, Naarden, The Netherlands.

Neuromuscul Disord 2003 Feb;13(2):173-8

Department of Anatomy and Developmental Biology, University College London, Gower Street, London WC1E 6BT, UK.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0960-8966(02)00198-0DOI Listing
February 2003

Mutations of SPG4 are responsible for a loss of function of spastin, an abundant neuronal protein localized in the nucleus.

Hum Mol Genet 2003 Jan;12(1):71-8

Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale, E-0223 Université d'Evry, GENOPOLE, Evry, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/ddg004DOI Listing
January 2003

Spinal muscular atrophy.

Semin Pediatr Neurol 2002 Jun;9(2):145-50

Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale, Université d'Evry, Genopole, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1053/spen.2002.33801DOI Listing
June 2002

Spinal muscular atrophy: recent advances and future prospects.

Muscle Nerve 2002 Jul;26(1):4-13

Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Evry, E.9913, Genopole, 2 rue Gaston Crémieux, CP 5724, 91057 Evry, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1002/mus.10110DOI Listing
July 2002

The molecular bases of spinal muscular atrophy.

Curr Opin Genet Dev 2002 Jun;12(3):294-8

Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Evry, E.9913, Genopole, 2 rue Gaston Crémieux, CP 5724, 91057, Evry, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1016/s0959-437x(02)00301-5DOI Listing
June 2002

Neurofilament accumulation at the motor endplate and lack of axonal sprouting in a spinal muscular atrophy mouse model.

Hum Mol Genet 2002 Jun;11(12):1439-47

Molecular Neurogenetics Laboratory, Institut National de la Santé et de la Recherche Médicale (INSERM), Université d'Evry, EMI-9913, GENOPOLE, 91057 Evry, France.

View Article

Download full-text PDF

Source
http://dx.doi.org/10.1093/hmg/11.12.1439DOI Listing
June 2002