Stephanie Baulac

Stephanie Baulac

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Stephanie Baulac

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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

Juvenile myoclonic epilepsy phenotype in a family with Unverricht-Lundborg disease.

Epileptic Disord 2019 Aug;21(4):359-365

Razi Hospital, Department of Neurology, LR 18SP03, Tunis, Université de Tunis El Manar, Faculté de Médecine de Tunis, Tunis, Tunisia.

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http://dx.doi.org/10.1684/epd.2019.1078DOI 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

[A second-hit somatic mutation drives neurodevelopmental epilepsy].

Med Sci (Paris) 2019 Apr 30;35(4):289-291. Epub 2019 Apr 30.

Institut du cerveau et de la moelle épinière (ICM), Inserm U1127, CNRS UMR 7225, Sorbonne Université, Hôpital Pitié-Salpêtrière, 47, boulevard de l'Hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1051/medsci/2019058DOI Listing
April 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

Clinical and genetic study of Tunisian families with genetic generalized epilepsy: contribution of CACNA1H and MAST4 genes.

Neurogenetics 2018 08 12;19(3):165-178. Epub 2018 Jun 12.

UPMC Univ Paris 06, Inserm, CNRS, APHP, Institut du Cerveau et la Moelle (ICM), Hôpital Pitié-Salpêtrière, Sorbonne Universités, Paris, France.

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http://dx.doi.org/10.1007/s10048-018-0550-zDOI Listing
August 2018

Rare coding variants in genes encoding GABA receptors in genetic generalised epilepsies: an exome-based case-control study.

Authors:
Patrick May Simon Girard Merle Harrer Dheeraj R Bobbili Julian Schubert Stefan Wolking Felicitas Becker Pamela Lachance-Touchette Caroline Meloche Micheline Gravel Cristina E Niturad Julia Knaus Carolien De Kovel Mohamad Toliat Anne Polvi Michele Iacomino Rosa Guerrero-López Stéphanie Baulac Carla Marini Holger Thiele Janine Altmüller Kamel Jabbari Ann-Kathrin Ruppert Wiktor Jurkowski Dennis Lal Raffaella Rusconi Sandrine Cestèle Benedetta Terragni Ian D Coombs Christopher A Reid Pasquale Striano Hande Caglayan Auli Siren Kate Everett Rikke S Møller Helle Hjalgrim Hiltrud Muhle Ingo Helbig Wolfram S Kunz Yvonne G Weber Sarah Weckhuysen Peter De Jonghe Sanjay M Sisodiya Rima Nabbout Silvana Franceschetti Antonietta Coppola Maria S Vari Dorothée Kasteleijn-Nolst Trenité Betul Baykan Ugur Ozbek Nerses Bebek Karl M Klein Felix Rosenow Dang K Nguyen François Dubeau Lionel Carmant Anne Lortie Richard Desbiens Jean-François Clément Cécile Cieuta-Walti Graeme J Sills Pauls Auce Ben Francis Michael R Johnson Anthony G Marson Bianca Berghuis Josemir W Sander Andreja Avbersek Mark McCormack Gianpiero L Cavalleri Norman Delanty Chantal Depondt Martin Krenn Fritz Zimprich Sarah Peter Marina Nikanorova Robert Kraaij Jeroen van Rooij Rudi Balling M Arfan Ikram André G Uitterlinden Giuliano Avanzini Stephanie Schorge Steven Petrou Massimo Mantegazza Thomas Sander Eric LeGuern Jose M Serratosa Bobby P C Koeleman Aarno Palotie Anna-Elina Lehesjoki Michael Nothnagel Peter Nürnberg Snezana Maljevic Federico Zara Patrick Cossette Roland Krause Holger Lerche

Lancet Neurol 2018 08 17;17(8):699-708. Epub 2018 Jul 17.

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http://dx.doi.org/10.1016/S1474-4422(18)30215-1DOI Listing
August 2018

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish.

Ann Clin Transl Neurol 2018 May 6;5(5):510-523. Epub 2018 Apr 6.

Sorbonne Universités Paris VI UMR CNRS 1127 UPMC INSERM U 1127 CNRS UMR 7225 Institut du Cerveau et de la Moelle épinière - ICM Paris France.

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http://dx.doi.org/10.1002/acn3.542DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5945968PMC
May 2018

mTOR pathway in familial focal epilepsies.

Oncotarget 2017 Jan;8(4):5674-5675

Sorbonne Universités, UPMC Univ Paris 06, Inserm, CNRS, APHP, Institut du Cerveau et la Moelle (ICM), Hôpital Pitié-Salpêtrière, Paris, France.

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http://www.oncotarget.com/fulltext/14234
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http://dx.doi.org/10.18632/oncotarget.14234DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5351575PMC
January 2017

Germline and somatic mutations in the gene in focal cortical dysplasia and epilepsy.

Neurol Genet 2016 Dec 31;2(6):e118. Epub 2016 Oct 31.

The Danish Epilepsy Centre Filadelfia (R.S.M., G.R.), Dianalund, Denmark; Institute for Regional Health Services (R.S.M.), University of Southern Denmark, Odense; Sorbonne Universités (S.W., E.M., V.L., E.L., S.B.), UPMC Univ Paris 06 UMR S 1127, Inserm U1127, CNRS UMR 7225, AP-HP, Institut du cerveau et la moelle (ICM)-Hôpital Pitié-Salpêtrière, Paris, France; Epilepsy Unit (S.W., V.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France; Neurogenetics Group (S.W.), VIB-Department of Molecular Genetics; Laboratory of Neurogenetics (S.W.), Institute Born-Bunge, University of Antwerp, Belgium; Department of Neurology (S.W.), University Hospital Antwerp, Belgium; Department of Pediatric Neurosurgery (M.C., S.F.-S., G.D.), Fondation Rothschild, Paris, France; Université Paris Sorbonne Cité (V.T.), INSERM UMR-S1147 MEPPOT, CNRS SNC5014, Centre Universitaire des Saints-Pères, Paris, France; Department of Neurology (E.M.B.), University of Alabama at Birmingham; HudsonAlpha Institute for Biotechnology (S.M.H., J.W.P., K.M.B., G.M.C.), Huntsville, AL; Pediatric Neurology, Neurogenetics and Neurobiology Unit and Laboratories (D.M., V.C., R.G.), Neuroscience Department, A Meyer Children's Hospital, University of Florence, Florence, Italy; Genosplice (P.d.l.G.), Institut du Cerveau et de la Moelle épinière, ICM, Paris, France; Amplexa Genetics (L.H.G.L.), Odense, Denmark; Department of Genetics and Cytogenetics (E.L., S.B.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France; and University of Copenhagen (G.R.), Denmark.

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http://dx.doi.org/10.1212/NXG.0000000000000118DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5089441PMC
December 2016

Choking Fits During Sleep Related to Epilepsy.

Am J Med 2016 08 3;129(8):e137-8. Epub 2016 May 3.

Department of Neurology, University Hospitals and Medical School of Geneva, Switzerland. Electronic address:

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http://dx.doi.org/10.1016/j.amjmed.2016.04.010DOI Listing
August 2016

Depdc5 knockout rat: A novel model of mTORopathy.

Neurobiol Dis 2016 May 9;89:180-9. Epub 2016 Feb 9.

INSERM, U1127, ICM, F-75013 Paris, France; CNRS, UMR 7225, ICM, F-75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France; Department of Genetics, Pitié-Salpêtrière Hospital, Public Hospital Network of Paris, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.nbd.2016.02.010DOI Listing
May 2016

Genetic models of focal epilepsies.

J Neurosci Methods 2016 Feb 11;260:132-43. Epub 2015 Jun 11.

INSERM, U 1127, ICM, F-75013 Paris, France; CNRS, UMR 7225, ICM, F-75013 Paris, France; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, F-75013 Paris, France. Electronic address:

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http://dx.doi.org/10.1016/j.jneumeth.2015.06.003DOI Listing
February 2016

LGI1 acts presynaptically to regulate excitatory synaptic transmission during early postnatal development.

Sci Rep 2016 Feb 16;6:21769. Epub 2016 Feb 16.

Neuroglial Interactions in Cerebral Physiopathology, Center for Interdisciplinary Research in Biology, Collège de France, CNRS UMR 7241, INSERM U1050, Labex Memolife, PSL Research University, F-75005 Paris, France.

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http://dx.doi.org/10.1038/srep21769DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4754946PMC
February 2016

Novel GABRG2 mutations cause familial febrile seizures.

Neurol Genet 2015 Dec 4;1(4):e35. Epub 2015 Nov 4.

Sorbonne Universités (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), UPMC Univ Paris 06, UM 75, ICM; INSERM, U1127 (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), ICM; CNRS (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), UMR 7225, ICM; ICM (M.B., S.I., M.D., S.B., M.M.-B., E.L., S.W., M.B., V.L., I.A.-G.), Paris, France; Department of Neurology (F.P.), University Hospitals of Geneva (HUG), Switzerland; Centre de Reference Épilepsies Rares, Epilepsy Unit (S.W., M.B., V.L., I.A.-G.), and Département de Génétique et de Cytogénétique (E.L.), AP-HP Groupe Hospitalier Pitié-Salpêtrière, Paris, France; Pediatric Neurology and Muscular Diseases Unit, Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genova (C.M., P.S.), and Laboratory of Neurogenetics, Department of Neurosciences (F.Z., M.I.), "G. Gaslini" Institute, Genova, Italy; Neurogenetics Group, VIB-Department of Molecular Genetics (K.H.), and Laboratory of Neurogenetics, Institute Born-Bunge (K.H.), University of Antwerp, Belgium; Centre de Reference Épilepsies Rares (O.D., R.N.), Department of Pediatric Neurology, Necker Enfants Malades Hospital, AP-HP, Paris; INSERM (O.D., R.N.), U1129, Necker, Paris, France; and University Paris Descartes (O.D., R.N.), Paris, France.

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http://dx.doi.org/10.1212/NXG.0000000000000035DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4811385PMC
December 2015

Genetics advances in autosomal dominant focal epilepsies: focus on DEPDC5.

Prog Brain Res 2014 ;213:123-39

Sorbonne Universités, UPMC Univ Paris 06, UM 75, Paris, France; INSERM, U1127, Paris, France; CNRS, UMR 7225, Paris, France; Institut du Cerveau et de la Moelle épinière, ICM, Paris, France. Electronic address:

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http://dx.doi.org/10.1016/B978-0-444-63326-2.00007-7DOI Listing
April 2015

Familial focal epilepsy with focal cortical dysplasia due to DEPDC5 mutations.

Ann Neurol 2015 Apr 13;77(4):675-83. Epub 2015 Mar 13.

Sorbonne Universités, Pierre and Marie Curie University, UPMC Univ Paris 06, UM 75, ICM, Paris, France; National Institute of Health and Medical Research, INSERM U1127, ICM, Paris, France; National Center for Scientific Research, CNRS, UMR 7225, ICM, Paris, France; Brain and Spine Institute, Institut du Cerveau et de la Moelle (ICM), Paris, France.

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http://dx.doi.org/10.1002/ana.24368DOI Listing
April 2015

Glutamatergic neuron-targeted loss of LGI1 epilepsy gene results in seizures.

Brain 2014 Nov 17;137(Pt 11):2984-96. Epub 2014 Sep 17.

1 INSERM, U 1127, F-75013, Paris, France 2 CNRS, UMR 7225, F-75013, Paris, France 3 Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, ICM, F-75013 Paris, France 4 Institut du Cerveau et de la Moelle épinière (ICM), F-75013, Paris, France

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http://dx.doi.org/10.1093/brain/awu259DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4208469PMC
November 2014

DEPDC5 mutations in families presenting as autosomal dominant nocturnal frontal lobe epilepsy.

Neurology 2014 Jun 9;82(23):2101-6. Epub 2014 May 9.

From the Department of Neurology (F.P.), and Service of Genetic Medicine (S.E.A.), University Hospitals of Geneva; Department of Genetic Medicine and Development (P.M.), and iGE3, Institute of Genetics and Genomics of Geneva (S.E.A.), University of Geneva, Switzerland; Institut national de la santé et de la recherche médicale (INSERM) (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), U1127, ICM, Paris, F-75013 Paris; Sorbonne Universités, UPMC Univ Paris 06, UMR S 1127, F-75013 Paris (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), Paris; CNRS (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), UMR7225, Hôpital de la Pitié-Salpêtrière, Paris; Epilepsy Unit (V.N., I.A.-G., M.V., M.B.), ICM, Paris, F-75013 Paris, France (V.N., S.I., C.D., I.A.-G., M.V., M.B., E.L., S.B.), and Département de Génétique et de Cytogénétique (C.D., E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris; Epilepsy, Sleep and Pediatric Neurophysiology (J.d.B.), University Hospitals of Lyon; Hospices Civils de Lyon (D.V.), HFME, centre de référence déficiences intellectuelles de causes rares et sclérose tubéreuse de Bourneville, Bron, France; Neurogenetics Group (S.W., A.S., P.D.J.), Department of Molecular Genetics, VIB, Antwerp; Laboratory of Neurogenetics (S.W., A.S., P.D.J.), Institute Born-Bunge, University of Antwerp, Belgium; Epilepsy Centre Kempenhaeghe (S.W.), Oosterhout, the Netherlands; Algemeen Stedelijk Ziekenhuis (E.F.), Aalst; Division of Neurology (P.D.J.), Antwerp University Hospital, Antwerp University, Belgium; Centre hospitalier général de Valence (M.V.R.); Department of Medical Genetics (G.L.), Hospices Civils de Lyon; Claude Bernard Lyon I University (G.L.); CRNL (G.L.), CNRS UMR 5292, INSERM U1028, Lyon; Centre de référence épilepsies rares et Sclérose tubéreuse de Bourneville (I.A.-G., M.B.); Genotyping and Sequencing Platform, ICM (E.M.), and DNA and Cell Bank (P.C.), Hôpital Pitié-Salpêtrière, Paris, France; Department of Surge

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http://dx.doi.org/10.1212/WNL.0000000000000488DOI Listing
June 2014

Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.

Neurology 2014 Mar 5;82(12):1068-75. Epub 2014 Mar 5.

From INSERM (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), U1127; Sorbonne Universités, UPMC Univ Paris 06 (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), UM 75; CNRS (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.), UMR 7225, ICM, Paris, ICM, (S.B., B.D., B.O.A.B., P.C., J.R., E.N., K.H.E.H., E.L.) Paris, F-75013 Paris, France; Department of Human Genetics (G.M.L., P.A.L., C.J.F., M.H.M.), University of Michigan, Ann Arbor; Service de Neurophysiologie Clinique (B.O.A.B.), Hôpital des Spécialités, Centre Hospitalier Ibn Sina Rabat, Morocco; Genetics and Pathophysiology of Neurodevelopmental and Neuromuscular Diseases (K.P.), Cochin Institute, Paris; GenoScreen (C.H., S.F.), Lille, France; Neuroscience Department (R.G.), Children's Hospital A. Meyer, University of Florence and IRCCS Stella Maris, Pisa, Italy; Laboratoire de Neurogénétique (K.H.E.H.), Ecole Pratique des Hautes Etudes, Paris; and Département de Génétique et de Cytogénétique (E.L.), AP-HP Groupe hospitalier Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1212/WNL.0000000000000241DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3962989PMC
March 2014

Seizure semiology in autosomal dominant epilepsy with auditory features, due to novel LGI1 mutations.

Epilepsy Res 2013 Dec 8;107(3):311-7. Epub 2013 Oct 8.

Department of Paediatrics, School of Medicine and Health Sciences, University of Otago, Wellington, New Zealand. Electronic address:

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http://dx.doi.org/10.1016/j.eplepsyres.2013.09.008DOI Listing
December 2013

Mutations of DEPDC5 cause autosomal dominant focal epilepsies.

Nat Genet 2013 May 31;45(5):552-5. Epub 2013 Mar 31.

Institut National de la Santé et de la Recherche Médicale (INSERM) U975, Institut du Cerveau et de la Moelle Epinière (ICM), Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1038/ng.2601DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5010101PMC
May 2013

Genome-wide association analysis of genetic generalized epilepsies implicates susceptibility loci at 1q43, 2p16.1, 2q22.3 and 17q21.32.

Hum Mol Genet 2012 Dec 4;21(24):5359-72. Epub 2012 Sep 4.

Institute for Medical Biometry, Informatic and Epidemiology, University of Bonn, Bonn, Germany.

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http://hmg.oxfordjournals.org/content/21/24/5359.full.pdf
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http://www.hmg.oxfordjournals.org/cgi/doi/10.1093/hmg/dds373
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http://dx.doi.org/10.1093/hmg/dds373DOI Listing
December 2012

New analysis workflow for MALDI imaging mass spectrometry: application to the discovery and identification of potential markers of childhood absence epilepsy.

J Proteome Res 2012 Nov 12;11(11):5453-63. Epub 2012 Oct 12.

Inserm U1085, IRSET, Proteomics Core Facility Biogenouest, Campus de Beaulieu, F-35042 Rennes, France.

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http://dx.doi.org/10.1021/pr3006974DOI Listing
November 2012

Kcna1-mutant rats dominantly display myokymia, neuromyotonia and spontaneous epileptic seizures.

Brain Res 2012 Jan 13;1435:154-66. Epub 2011 Nov 13.

Institute of Laboratory animals, Graduate School of Medicine, Kyoto University, Kyoto 606-8501, Japan.

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http://dx.doi.org/10.1016/j.brainres.2011.11.023DOI Listing
January 2012

Epilepsy gene LGI1 regulates postnatal developmental remodeling of retinogeniculate synapses.

J Neurosci 2012 Jan;32(3):903-10

Department of Neurology and Pathology, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215, USA.

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http://www.jneurosci.org/cgi/doi/10.1523/JNEUROSCI.5191-11.2
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http://dx.doi.org/10.1523/JNEUROSCI.5191-11.2012DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3342858PMC
January 2012

Advances on the genetics of Mendelian idiopathic epilepsies.

Clin Lab Med 2010 Dec;30(4):911-29

CRICM UPMC-Paris6 UMR-S975/Inserm U975/CNRS UMR 7225, F-75013, Bâtiment Pharmacie, Hôpital de Pitié-Salpêtrière, 47 Boulevard de l'Hôpital, 75013 Paris, France.

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https://linkinghub.elsevier.com/retrieve/pii/S02722712100012
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http://dx.doi.org/10.1016/j.cll.2010.07.008DOI Listing
December 2010

Advances on the genetics of mendelian idiopathic epilepsies.

Neurol Clin 2009 Nov;27(4):1041-1061

UPMC/Inserm, UMR_S975, Cricm, F-75013, Bâtiment Pharmacie, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France; Center for Epilepsy, AP-HP, Bâtiment Paul Casteigne Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1016/j.ncl.2009.07.001DOI Listing
November 2009

A novel three base-pair LGI1 deletion leading to loss of function in a family with autosomal dominant lateral temporal epilepsy and migraine-like episodes.

Epilepsy Res 2009 Jul 5;85(1):118-22. Epub 2009 Mar 5.

Service Epilepsie, Sommeil, Explorations Fonctionnelles Neurolopédiatriques et CTRS-IDEE, Hôpital Femme-Mère-Enfant, Hospices Civils de Lyon, Lyon, France.

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http://dx.doi.org/10.1016/j.eplepsyres.2009.02.007DOI Listing
July 2009

Increased DJ-1 expression under oxidative stress and in Alzheimer's disease brains.

Mol Neurodegener 2009 Feb 25;4:12. Epub 2009 Feb 25.

Center for Neurologic Diseases, Department of Neurology, Brigham and Women's Hospital, Harvard Medical School, Harvard University, Boston, MA 02115, USA.

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http://dx.doi.org/10.1186/1750-1326-4-12DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2654450PMC
February 2009

A novel locus for generalized epilepsy with febrile seizures plus in French families.

Arch Neurol 2008 Jul;65(7):943-51

INSERM, UMR679, Neurologie and Thérapeutique Expérimentale, UPMC Univ Paris 06, Groupe Hospitalier Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1001/archneur.65.7.943DOI Listing
July 2008

Absence of mutations in the LGI1 receptor ADAM22 gene in autosomal dominant lateral temporal epilepsy.

Epilepsy Res 2007 Aug 6;76(1):41-8. Epub 2007 Aug 6.

INSERM U679, Neurology and Experimental Therapeutics, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1016/j.eplepsyres.2007.06.014DOI Listing
August 2007

Two novel epilepsy-linked mutations leading to a loss of function of LGI1.

Arch Neurol 2007 Feb;64(2):217-22

INSERM UMR 679, Neurologie and Thérapeutique Expérimentale, Université Pierre et Marie Curie-Paris 6, Faculté de Médecine, Assistance Publique-Hôpitaux de Paris, Hôpital de la Pitié-Salpêtrière, 47 boulevard de l'hôpital, 75013 Paris, France.

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http://dx.doi.org/10.1001/archneur.64.2.217DOI Listing
February 2007

Zebrafish lacking Alzheimer presenilin enhancer 2 (Pen-2) demonstrate excessive p53-dependent apoptosis and neuronal loss.

J Neurochem 2006 Mar 8;96(5):1423-40. Epub 2006 Feb 8.

Center for Neurologic Diseases, Department of Neurology, Harvard Medical School, Boston, Massachusetts, USA.

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http://doi.wiley.com/10.1111/j.1471-4159.2006.03648.x
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http://dx.doi.org/10.1111/j.1471-4159.2006.03648.xDOI Listing
March 2006

Myoclonic seizures in the context of generalized epilepsy with febrile seizures plus (GEFS+).

Adv Neurol 2005 ;95:119-25

Neurology/Epilepsy Department and Paris VI University, Hôpital Pitie-Salpetriere, Paris, France.

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December 2004

Dimerization of Parkinson's disease-causing DJ-1 and formation of high molecular weight complexes in human brain.

Mol Cell Neurosci 2004 Nov;27(3):236-46

Center for Neurologic Diseases, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.mcn.2004.06.014DOI Listing
November 2004

Fever, genes, and epilepsy.

Lancet Neurol 2004 Jul;3(7):421-30

Hôpital Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/S1474-4422(04)00808-7DOI Listing
July 2004

Monogenic idiopathic epilepsies.

Lancet Neurol 2004 Apr;3(4):209-18

Unité d'Epileptologie, Assistace Publique Hôpitaux, and INSERM U 289, Hôpital de la Pitié-Salpêtrière, Paris, France.

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http://dx.doi.org/10.1016/S1474-4422(04)00706-9DOI Listing
April 2004

Functional gamma-secretase complex assembly in Golgi/trans-Golgi network: interactions among presenilin, nicastrin, Aph1, Pen-2, and gamma-secretase substrates.

Neurobiol Dis 2003 Nov;14(2):194-204

Center for Neurologic Diseases, Brigham and Women's Hospital and Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/s0969-9961(03)00123-2DOI Listing
November 2003