Jamel Chelly

Jamel Chelly

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Jamel Chelly

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Impaired glycinergic transmission in hyperekplexia: a model of parasomnia overlap disorder.

Ann Clin Transl Neurol 2019 Sep 7;6(9):1900-1904. Epub 2019 Aug 7.

Département de Neurologie, Unité des Troubles du Sommeil, CHU Montpellier, Montpellier, France.

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http://dx.doi.org/10.1002/acn3.50866DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6764621PMC
September 2019

Correction: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Aug;21(8):1896

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0325-9DOI Listing
August 2019

A novel heterozygous ANO3 mutation responsible for myoclonic dystonia.

J Neurol Sci 2019 Aug 13;403:65-66. Epub 2019 Jun 13.

Hospices Civils de Lyon, Hôpital Neurologique Pierre Wertheimer, Service de Neurologie C, 69000 Lyon, France; Université de Lyon, Lyon 1 University, Lyon, F-69373; Centre de Neurosciences Cognitives de Lyon, CNRS UMR 5229, Bron F-69500, France.

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http://dx.doi.org/10.1016/j.jns.2019.06.014DOI Listing
August 2019

Correction to: The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 Jul;21(7):1671

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://dx.doi.org/10.1038/s41436-018-0284-1DOI Listing
July 2019

The landscape of epilepsy-related GATOR1 variants.

Genet Med 2019 02 10;21(2):398-408. Epub 2018 Aug 10.

Sorbonne Université, UPMC Univ Paris 06, UMR S 1127, F-75013, Paris, France.

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http://www.nature.com/articles/s41436-018-0060-2
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http://dx.doi.org/10.1038/s41436-018-0060-2DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6292495PMC
February 2019

ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.

Am J Hum Genet 2019 02 10;104(2):319-330. Epub 2019 Jan 10.

Laboratoire d'ImmunoRhumatologie Moléculaire, plateforme GENOMAX, INSERM UMR_S 1109, Faculté de Médecine, Fédération Hospitalo-Universitaire OMICARE, Fédération de Médecine Translationnelle de Strasbourg (FMTS), LabEx TRANSPLANTEX, Université de Strasbourg, 4 rue Kirschleger, 67085 Strasbourg, France; Service d'Immunologie Biologique, Plateau Technique de Biologie, Pôle de Biologie, Nouvel Hôpital Civil, 1 place de l'Hôpital, 67091 Strasbourg, France. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.12.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6369415PMC
February 2019

Further refinement of COL4A1 and COL4A2 related cortical malformations.

Eur J Med Genet 2018 Dec 11;61(12):765-772. Epub 2018 Oct 11.

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France; Laboratory of Embryology and Genetics of Congenital Malformations, INSERM UMR 1163, Imagine Institute, Paris, France; Pediatric Neurology, APHP- Necker Enfants Malades Hospital, Paris, France; National Rare Disease Center- Centre de Référence "Déficiences Intellectuelles de Causes Rares", AP-HP, Necker Enfants Malades, 75015, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212173084
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http://dx.doi.org/10.1016/j.ejmg.2018.10.004DOI Listing
December 2018

Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.

Eur J Hum Genet 2018 04 8;26(4):527-536. Epub 2018 Feb 8.

Laboratoire de Diagnostic Génétique, Institut de Génétique Médicale d'Alsace (IGMA), Hôpitaux Universitaires de Strasbourg, 1 place de l'hôpital, Strasbourg, 67091, France.

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http://www.nature.com/articles/s41431-017-0009-y
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http://dx.doi.org/10.1038/s41431-017-0009-yDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891492PMC
April 2018

De Novo Mutations in Protein Kinase Genes CAMK2A and CAMK2B Cause Intellectual Disability.

Authors:
Sébastien Küry Geeske M van Woerden Thomas Besnard Martina Proietti Onori Xénia Latypova Meghan C Towne Megan T Cho Trine E Prescott Melissa A Ploeg Stephan Sanders Holly A F Stessman Aurora Pujol Ben Distel Laurie A Robak Jonathan A Bernstein Anne-Sophie Denommé-Pichon Gaëtan Lesca Elizabeth A Sellars Jonathan Berg Wilfrid Carré Øyvind Løvold Busk Bregje W M van Bon Jeff L Waugh Matthew Deardorff George E Hoganson Katherine B Bosanko Diana S Johnson Tabib Dabir Øystein Lunde Holla Ajoy Sarkar Kristian Tveten Julitta de Bellescize Geir J Braathen Paulien A Terhal Dorothy K Grange Arie van Haeringen Christina Lam Ghayda Mirzaa Jennifer Burton Elizabeth J Bhoj Jessica Douglas Avni B Santani Addie I Nesbitt Katherine L Helbig Marisa V Andrews Amber Begtrup Sha Tang Koen L I van Gassen Jane Juusola Kimberly Foss Gregory M Enns Ute Moog Katrin Hinderhofer Nagarajan Paramasivam Sharyn Lincoln Brandon H Kusako Pierre Lindenbaum Eric Charpentier Catherine B Nowak Elouan Cherot Thomas Simonet Claudia A L Ruivenkamp Sihoun Hahn Catherine A Brownstein Fan Xia Sébastien Schmitt Wallid Deb Dominique Bonneau Mathilde Nizon Delphine Quinquis Jamel Chelly Gabrielle Rudolf Damien Sanlaville Philippe Parent Brigitte Gilbert-Dussardier Annick Toutain Vernon R Sutton Jenny Thies Lisenka E L M Peart-Vissers Pierre Boisseau Marie Vincent Andreas M Grabrucker Christèle Dubourg Wen-Hann Tan Nienke E Verbeek Martin Granzow Gijs W E Santen Jay Shendure Bertrand Isidor Laurent Pasquier Richard Redon Yaping Yang Matthew W State Tjitske Kleefstra Benjamin Cogné Slavé Petrovski Kyle Retterer Evan E Eichler Jill A Rosenfeld Pankaj B Agrawal Stéphane Bézieau Sylvie Odent Ype Elgersma Sandra Mercier

Am J Hum Genet 2017 Nov;101(5):768-788

CHU Nantes, Service de Génétique Médicale, 9 quai Moncousu, 44093 Nantes Cedex 1, France.

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http://dx.doi.org/10.1016/j.ajhg.2017.10.003DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5673671PMC
November 2017

First case report of Cohen syndrome in the Tunisian population caused by VPS13B mutations.

BMC Med Genet 2017 11 17;18(1):134. Epub 2017 Nov 17.

Service des Maladies Congénitales et Héréditaires, CHU Mongi Slim La Marsa, Sidi Daoud La Marsa, 2046, Tunis, Tunisia.

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http://dx.doi.org/10.1186/s12881-017-0493-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5693559PMC
November 2017

Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.

Am J Hum Genet 2017 Sep 17;101(3):428-440. Epub 2017 Aug 17.

Laboratoire de Diagnostic Génétique, Hôpitaux Universitaire de Strasbourg, 67000 Strasbourg, France; Institut de Génétique et de Biologie Moléculaire et Cellulaire, 67400 Illkirch, France; Centre National de la Recherche Scientifique, UMR7104, 67400 Illkirch, France; Institut National de la Santé et de la Recherche Médicale, U964, 67400 Illkirch, France; Université de Strasbourg, 67400 Illkirch, France; Fédération de Médecine Translationnelle de Strasbourg, Université de Strasbourg, 67000 Strasbourg, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00029297173028
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http://dx.doi.org/10.1016/j.ajhg.2017.07.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5590842PMC
September 2017

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations.

J Neuropathol Exp Neurol 2017 03;76(3):195-205

Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris and INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris France.

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http://dx.doi.org/10.1093/jnen/nlw124DOI Listing
March 2017

A novel recurrent LIS1 splice site mutation in classic lissencephaly.

Am J Med Genet A 2017 02 27;173(2):561-564. Epub 2016 Nov 27.

Imagine Institute and UMR1163, Paris Descartes-Sorbonne Paris Cité University, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.38041DOI Listing
February 2017

Mutations in the ERCC2 (XPD) gene associated with severe fetal ichthyosis and dysmorphic features.

Prenat Diagn 2016 Dec 2;36(13):1276-1279. Epub 2016 Dec 2.

Service de Génétique Médicale, Institut de Génétique Médicale d'Alsace (IGMA), Centre de Référence Maladies Rares Anomalies du Développement et Syndromes Malformatifs de l'Est, Hôpitaux Universitaires de Strasbourg, Hôpital de Hautepierre, Strasbourg, France.

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http://dx.doi.org/10.1002/pd.4965DOI Listing
December 2016

A step toward essential tremor gene discovery: identification of extreme phenotype and screening of HTRA2 and ANO3.

BMC Neurol 2016 Nov 23;16(1):238. Epub 2016 Nov 23.

Service of Neurology, University Hospital of Strasbourg, Hospital of Hautepierre, 1 avenue Molière, 67098, Strasbourg Cedex, France.

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http://dx.doi.org/10.1186/s12883-016-0748-3DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5120508PMC
November 2016

De novo TUBB2B mutation causes fetal akinesia deformation sequence with microlissencephaly: An unusual presentation of tubulinopathy.

Eur J Med Genet 2016 Apr 28;59(4):249-56. Epub 2015 Dec 28.

Inserm, U1016, Institut Cochin, Paris, France; CNRS, UMR8104, Paris, France; Paris Descartes - Sorbonne Paris Cité University, Imagine Institute, Paris, France.

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http://dx.doi.org/10.1016/j.ejmg.2015.12.007DOI Listing
April 2016

Astrocyte Transcriptome from the Mecp2(308)-Truncated Mouse Model of Rett Syndrome.

Neuromolecular Med 2015 Dec 25;17(4):353-63. Epub 2015 Jul 25.

Inserm, U1016, Faculté de Médecine, Laboratoire de Génétique et de Physiopathologie des Maladies Mentales, Institut Cochin, 24 Rue du Faubourg Saint Jacques, 75014, Paris, France.

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http://dx.doi.org/10.1007/s12017-015-8363-9DOI Listing
December 2015

Rare ACTG1 variants in fetal microlissencephaly.

Eur J Med Genet 2015 Aug 16;58(8):416-8. Epub 2015 Jul 16.

Université Paris Descartes-Sorbonne Paris Cité, Institut Imagine, Paris, France; Institut Imagine-INSERM UMR-1163, Embryology and Genetics of Congenital Malformations, Paris, France. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S17697212150011
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http://dx.doi.org/10.1016/j.ejmg.2015.06.006DOI Listing
August 2015

When a mid-intronic variation of DMD gene creates an ESE site.

Neuromuscul Disord 2014 Dec 1;24(12):1111-7. Epub 2014 Aug 1.

Laboratoire de biochimie et génétique moléculaire, Hôpital Cochin, Paris, France.

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http://dx.doi.org/10.1016/j.nmd.2014.07.003DOI Listing
December 2014

A 3-base pair deletion, c.9711_9713del, in DMD results in intellectual disability without muscular dystrophy.

Eur J Hum Genet 2014 Apr 31;22(4):480-5. Epub 2013 Jul 31.

1] Department of Human Genetics, Nijmegen Centre for Molecular Life Sciences, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [2] Institute of Genetic and Metabolic Disease, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands [3] Department of Cognitive Neuroscience, Donders Institute for Brain, Cognition and Behaviour, Radboud University Nijmegen, Nijmegen, The Netherlands.

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http://dx.doi.org/10.1038/ejhg.2013.169DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953899PMC
April 2014

Progressive muscular dystrophies.

Handb Clin Neurol 2013 ;113:1343-66

Cochin Institute - Cochin Hospital, INSERM U1016 and Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1016/B978-0-444-59565-2.00006-XDOI Listing
March 2014

Beta tubulin isoforms are not interchangeable for rescuing impaired radial migration due to Tubb3 knockdown.

Hum Mol Genet 2014 Mar 30;23(6):1516-26. Epub 2013 Oct 30.

Institut Cochin, Université Paris Descartes, CNRS (UMR 8104), Paris F75014, France.

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http://dx.doi.org/10.1093/hmg/ddt538DOI Listing
March 2014

Expanding the clinical phenotype of patients with a ZDHHC9 mutation.

Am J Med Genet A 2014 Mar 19;164A(3):789-95. Epub 2013 Dec 19.

Centre de Génétique et Centre de Référence Anomalies du développement et Syndromes Malformatifs, Hôpital d'Enfants, CHU, Dijon, France.

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http://dx.doi.org/10.1002/ajmg.a.36348DOI Listing
March 2014

Refining the phenotype associated with MEF2C point mutations.

Neurogenetics 2013 Feb 23;14(1):71-5. Epub 2012 Sep 23.

CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Université Paris Descartes, Paris, France.

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http://dx.doi.org/10.1007/s10048-012-0344-7DOI Listing
February 2013

MeCP2 deficiency is associated with impaired microtubule stability.

FEBS Lett 2013 Jan 10;587(2):245-53. Epub 2012 Dec 10.

Université Paris Descartes, CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Paris, France.

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http://dx.doi.org/10.1016/j.febslet.2012.11.033DOI Listing
January 2013

Mutation of plasma membrane Ca2+ ATPase isoform 3 in a family with X-linked congenital cerebellar ataxia impairs Ca2+ homeostasis.

Proc Natl Acad Sci U S A 2012 Sep 21;109(36):14514-9. Epub 2012 Aug 21.

Unit of Molecular Medicine for Neuromuscular and Neurodegenerative Disorders, Department of Neurosciences, Bambino Gesù Children's Hospital, Istituti di Ricovero e Cura a Carattere Scientifico, 00165 Rome, Italy.

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http://dx.doi.org/10.1073/pnas.1207488109DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3437887PMC
September 2012

Altered microtubule dynamics in Mecp2-deficient astrocytes.

J Neurosci Res 2012 May 18;90(5):990-8. Epub 2012 Jan 18.

Université Paris Descartes, CNRS UMR 8104, Institut Cochin, Laboratoire de Génétique des Maladies Neurodéveloppementales, Paris, France.

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http://dx.doi.org/10.1002/jnr.23001DOI Listing
May 2012

Rapid reversal of impaired inhibitory and excitatory transmission but not spine dysgenesis in a mouse model of mental retardation.

J Physiol 2012 Feb 28;590(4):763-76. Epub 2011 Nov 28.

School of Clinical and Experimental Medicine (Neuronal Networks Group), College of Medical and Dental Sciences, University of Birmingham, Edgbaston, Birmingham B15 2TT, UK.

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http://dx.doi.org/10.1113/jphysiol.2011.219907DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3381309PMC
February 2012

A novel frame shift mutation in the PQBP1 gene identified in a Tunisian family with X-linked mental retardation.

Eur J Med Genet 2011 May-Jun;54(3):241-6. Epub 2011 Feb 26.

Laboratoire de Génétique Humaine, Faculté de Médecine de Tunis, 15 Jebel Lakhdhar LaRabta, Tunis 1007, Tunisia.

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http://dx.doi.org/10.1016/j.ejmg.2011.01.010DOI Listing
September 2011

A circadian clock in hippocampus is regulated by interaction between oligophrenin-1 and Rev-erbα.

Nat Neurosci 2011 Aug 28;14(10):1293-301. Epub 2011 Aug 28.

Consiglio Nazionale delle Ricerche (CNR) Institute of Neuroscience, Department of Pharmacology, University of Milan, Milan, Italy.

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http://dx.doi.org/10.1038/nn.2911DOI Listing
August 2011

A FOXG1 mutation in a boy with congenital variant of Rett syndrome.

Neurogenetics 2011 Feb 24;12(1):1-8. Epub 2010 Aug 24.

Institut Cochin, Inserm U1016, UMR8104, Université Paris Descartes, 24 rue du Faubourg St Jacques, 75014, Paris, France.

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http://dx.doi.org/10.1007/s10048-010-0255-4DOI Listing
February 2011

Disease-associated mutations in TUBA1A result in a spectrum of defects in the tubulin folding and heterodimer assembly pathway.

Hum Mol Genet 2010 Sep 5;19(18):3599-613. Epub 2010 Jul 5.

Department of Biochemistry, NYU Langone Medical Center, New York, NY 10016, USA.

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http://dx.doi.org/10.1093/hmg/ddq276DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2928131PMC
September 2010

Somatic mosaicism for a CDKL5 mutation as an epileptic encephalopathy in males.

Am J Med Genet A 2010 Aug;152A(8):2110-1

Laboratoire de Biochimie et Biologie Moléculaire, AP-HP, Hôpital Cochin, Paris, France.

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http://dx.doi.org/10.1002/ajmg.a.33037DOI Listing
August 2010

Synaptic maturation at cortical projections to the lateral amygdala in a mouse model of Rett syndrome.

PLoS One 2010 Jul 2;5(7):e11399. Epub 2010 Jul 2.

Institut des Neurosciences Cellulaires et Intégratives, CNRS UPR 3212 et Université de Strasbourg, Strasbourg, France.

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http://journals.plos.org/plosone/article?id=10.1371/journal.pone.0011399PLOS
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2896423PMC
July 2010