Baulac, Stéphanie: search on Z-Library

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1

mTOR pathway, focal cortical dysplasia and epilepsy

Marsan, Elise, Baulac, Stéphanie

Journal:

Neuropathology and Applied Neurobiology

Year:

2018

Language:

english

File:

PDF, 1.25 MB

english, 2018

2

Advances on the Genetics of Mendelian Idiopathic Epilepsies

Baulac, Stéphanie, Baulac, Michel

Journal:

Neurologic Clinics

Year:

2009

Language:

english

File:

PDF, 379 KB

english, 2009

3

Canalopathies épileptiques

Baulac, Stéphanie

Journal:

Year:

2010

Language:

french

File:

PDF, 115 KB

french, 2010

4

Parental mosaicism can cause recurrent transmission of SCN1A mutations associated with severe myoclonic epilepsy of infancy

Christel Depienne, Alexis Arzimanoglou, Oriane Trouillard, Estelle Fedirko, Stéphanie Baulac, Cécile Saint-Martin, Merle Ruberg, Charlotte Dravet, Rima Nabbout, Michel Baulac, Isabelle Gourfinkel-An,

Journal:

Year:

2006

Language:

english

File:

PDF, 181 KB

english, 2006

5

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

Stéphanie Baulac, Hope Lu, Jennifer Strahle, Ting Yang, Matthew S Goldberg, Jie Shen, Michael G Schlossmacher, Cynthia A Lemere, Qun Lu, Weiming Xia

Journal:

Molecular Neurodegeneration

Year:

2009

Language:

english

File:

PDF, 3.14 MB

english, 2009

6

Relation of High Concentrations of Plasma Carboxy-Terminal Telopeptide of Collagen Type I With Outcome in Acute Myocardial Infarction

Olivier Barthélémy, Farzin Beygui, Eric Vicaut, Stephanie Rouanet, Eric Van Belle, Cathrine Baulac, Alexia Degrandsart, Jean Dallongeville, Gilles Montalescot

Journal:

The American Journal of Cardiology

Year:

2009

Language:

english

File:

PDF, 315 KB

english, 2009

7

De Novo Mutations in Synaptic Transmission Genes Including DNM1 Cause Epileptic Encephalopathies

Appenzeller, Silke, Balling, Rudi, Barisic, Nina, Baulac, Stéphanie, Caglayan, Hande, Craiu, Dana, De Jonghe, Peter, Depienne, Christel, Dimova, Petia, Djémié, Tania, Gormley, Padhraig, Guerrini, Renz

Journal:

The American Journal of Human Genetics

Year:

2017

Language:

english

File:

PDF, 58 KB

english, 2017

8

New Analysis Workflow for MALDI Imaging Mass Spectrometry: Application to the Discovery and Identification of Potential Markers of Childhood Absence Epilepsy

Lagarrigue, Mélanie, Alexandrov, Theodore, Dieuset, Gabriel, Perrin, Aline, Lavigne, Régis, Baulac, Stéphanie, Thiele, Herbert, Martin, Benoit, Pineau, Charles

Journal:

Journal of Proteome Research

Year:

2012

Language:

english

File:

PDF, 1.27 MB

english, 2012

9

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

Boillot, Morgane, Lee, Chun-Yao, Allene, Camille, Leguern, Eric, Baulac, Stéphanie, Rouach, Nathalie

Journal:

Scientific Reports

Year:

2016

Language:

english

File:

PDF, 1.11 MB

english, 2016

10

Depdc5 knockdown causes mTOR-dependent motor hyperactivity in zebrafish

de Calbiac, Hortense, Dabacan, Adriana, Marsan, Elise, Tostivint, Hervé, Devienne, Gabrielle, Ishida, Saeko, Leguern, Eric, Baulac, Stéphanie, Muresan, Raul C., Kabashi, Edor, Ciura, Sorana

Journal:

Annals of Clinical and Translational Neurology

Year:

2018

Language:

english

File:

PDF, 959 KB

english, 2018

11

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

Sadleir, Lynette G., Agher, Dahbia, Chabrol, Elodie, Elkouby, Léa, Leguern, Eric, Paterson, Sarah J., Harty, Rosie, Bellows, Susannah T., Berkovic, Samuel F., Scheffer, Ingrid E., Baulac, Stéphanie

Journal:

Epilepsy Research

Year:

2013

Language:

english

File:

PDF, 938 KB

english, 2013

12

10.1038/88254

Baulac, Stéphanie, Huberfeld, Gilles, Gourfinkel-An, Isabelle, Mitropoulou, Georgia, Beranger, Alexandre, Prud'homme, Jean-François, Baulac, Michel, Brice, Alexis, Bruzzone, Roberto, LeGuern, Eric

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 304 KB

english, 2001

13

Choking fits during sleep related to epilepsy

Makrythanasis, Periklis, Behr, Charles, Baulac, Stéphanie, Hirsch, Edouard, Picard, Fabienne

Journal:

The American Journal of Medicine

Year:

2016

Language:

english

File:

PDF, 179 KB

english, 2016

14

A locus for bilateral occipital polymicrogyria maps to chromosome 6q16–q22

Bouchra Ouled Amar Ben Cheikh, Stéphanie Baulac, Fatiha Lahjouji, Ahmed Bouhouche, Philippe Couarch, Naima Khalili, Wafae Regragui, Stéphane Lehericy, Merle Ruberg, Ali Benomar, Simon Heath, Taib Chki

Journal:

Year:

2009

Language:

english

File:

PDF, 304 KB

english, 2009

15

A Second Locus for Familial Generalized Epilepsy with Febrile Seizures Plus Maps to Chromosome 2q21-q33

Stéphanie Baulac, Isabelle Gourfinkel-An, Fabienne Picard, Myriam Rosenberg-Bourgin, Jean-François Prud'homme, Michel Baulac, Alexis Brice, Eric LeGuern

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 474 KB

english, 1999

16

Genes in infantile epileptic encephalopathies

Christel Depienne, Isabelle Gourfinkel-An, Stéphanie Baulac, Eric LeGuern

Journal:

Year:

2010

Language:

english

File:

PDF, 37 KB

english, 2010

17

Two Novel Epilepsy-Linked Mutations Leading to a Loss of Function of LGI1

Chabrol, Elodie, Popescu, Cyprian, Gourfinkel-An, Isabelle, Trouillard, Oriane, Depienne, Christel, Senechal, Kristen, Baulac, Michel, LeGuern, Eric, Baulac, Stéphanie

Journal:

Archives of Neurology

Year:

2007

Language:

english

File:

PDF, 195 KB

english, 2007

18

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

William A. Campbell, Hongwei Yang, Henrik Zetterberg, Stéphanie Baulac, Jacqueline A. Sears, Tianming Liu, Stephen T. C. Wong, Tao P. Zhong, Weiming Xia

Journal:

Journal of Neurochemistry

Year:

2006

Language:

english

File:

PDF, 1.32 MB

english, 2006

19

10.1038/74159

Meisler, Miriam H., Escayg, Andrew, MacDonald, Bryan T., Baulac, Stéphanie, Huberfeld, Gilles, An-Gourfinkel, Isabelle, Brice, Alexis, LeGuern, Eric, Moulard, Bruno, Chaigne, Denys, Buresi, Catherine,

Journal:

Nature Genetics

Year:

2000

Language:

english

File:

PDF, 304 KB

english, 2000

20

First genetic evidence of GABAA receptor dysfunction in epilepsy: a mutation in the γ2-subunit gene

Baulac, Stéphanie, Huberfeld, Gilles, Gourfinkel-An, Isabelle, Mitropoulou, Georgia, Beranger, Alexandre, Prud'homme, Jean-François, Baulac, Michel, Brice, Alexis, Bruzzone, Roberto, LeGuern, Eric

Journal:

Nature Genetics

Year:

2001

Language:

english

File:

PDF, 304 KB

english, 2001

21

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

Saeko Ishida, Yu Sakamoto, Takeshi Nishio, Stéphanie Baulac, Mitsuru Kuwamura, Yukihiro Ohno, Akiko Takizawa, Shuji Kaneko, Tadao Serikawa, Tomoji Mashimo

Journal:

Year:

2012

Language:

english

File:

PDF, 1.12 MB

english, 2012

22

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

Stéphanie Baulac, Matthew J. LaVoie, Jennifer Strahle, Michael G. Schlossmacher, Weiming Xia

Journal:

Molecular and Cellular Neuroscience

Year:

2004

Language:

english

File:

PDF, 553 KB

english, 2004

23

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

Landoulsi, Zied, Laatar, Fatma, Noé, Eric, Mrabet, Saloua, Ben Djebara, Mouna, Achaz, Guillaume, Nava, Caroline, Baulac, Stéphanie, Kacem, Imen, Gargouri-Berrechid, Amina, Gouider, Riadh, Leguern, Eri

Journal:

Year:

2018

Language:

english

File:

PDF, 831 KB

english, 2018

24

A Novel Locus for Generalized Epilepsy With Febrile Seizures Plus in French Families

Baulac, Stéphanie, Gourfinkel-An, Isabelle, Couarch, Philippe, Depienne, Christel, Kaminska, Anna, Dulac, Olivier, Baulac, Michel, LeGuern, Eric, Nabbout, Rima

Journal:

Archives of Neurology

Year:

2008

Language:

english

File:

PDF, 177 KB

english, 2008

25

Aldosterone and long-term outcome after myocardial infarction: A substudy of the french nationwide Observatoire sur la Prise en charge hospitalière, l'Evolution à un an et les caRactéristiques de patients présentant un infArctus du myocarde avec ou sans onde Q (OPERA) study

Farzin Beygui, Gilles Montalescot, Eric Vicaut, Stephanie Rouanet, Eric Van Belle, Cathrine Baulac, Alexia Degrandsart, Jean Dallongeville

Journal:

American Heart Journal

Year:

2009

Language:

english

File:

PDF, 304 KB

english, 2009

26

Familial focal epilepsy with focal cortical dysplasia due to DEPDC 5 mutations

Baulac, Stéphanie, Ishida, Saeko, Marsan, Elise, Miquel, Catherine, Biraben, Arnaud, Nguyen, Dang Khoa, Nordli, Doug, Cossette, Patrick, Nguyen, Sylvie, Lambrecq, Virginie, Vlaicu, Mihaela, Daniau, Ma

Journal:

Annals of Neurology

Year:

2015

Language:

english

File:

PDF, 2.41 MB

english, 2015

27

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

Julitta de Bellescize, Nadia Boutry, Elodie Chabrol, Nathalie André-Obadia, Alexis Arzimanoglou, Eric Leguern, Stéphanie Baulac, Alain Calender, Philippe Ryvlin, Gaetan Lesca

Journal:

Epilepsy Research

Year:

2009

Language:

english

File:

PDF, 537 KB

english, 2009

28

Genetic models of focal epilepsies

Boillot, Morgane, Baulac, Stéphanie

Journal:

Journal of Neuroscience Methods

Year:

2015

Language:

english

File:

PDF, 1.11 MB

english, 2015

29

Advances on the Genetics of Mendelian Idiopathic Epilepsies

Baulac, Stéphanie, Baulac, Michel

Journal:

Clinics in Laboratory Medicine

Year:

2010

Language:

english

File:

PDF, 323 KB

english, 2010

30

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

Stephanie Baulac, Matthew J LaVoie, W.Taylor Kimberly, Jennifer Strahle, Michael S Wolfe, Dennis J Selkoe, Weiming Xia

Journal:

Neurobiology of Disease

Year:

2003

Language:

english

File:

PDF, 376 KB

english, 2003

31

[Progress in Brain Research] Genetics of Epilepsy Volume 213 || Genetics advances in autosomal dominant focal epilepsies

Baulac, Stéphanie

Year:

2014

Language:

english

File:

PDF, 857 KB

english, 2014

32

Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31

Stéphanie Baulac, Fabienne Picard, Alexandra Herman, Josué Feingold, Emmanuelle Genin, Edouard Hirsch, Jean-François Prud'Homme, Michel Baulac, Alexis Brice, Eric LeGuern

Journal:

Annals of Neurology

Year:

2001

Language:

english

File:

PDF, 208 KB

english, 2001

33

Fever, genes, and epilepsy

Stéphanie Baulac, Isabelle Gourfinkel-An, Rima Nabbout, Gilles Huberfeld, Jose Serratosa, Eric Leguern, Michel Baulac

Journal:

The Lancet Neurology

Year:

2004

Language:

english

File:

PDF, 212 KB

english, 2004

34

Monogenic idiopathic epilepsies

Isabelle Gourfinkel-An, Stéphanie Baulac, Rima Nabbout, Merle Ruberg, Michel Baulac, Alexis Brice, Eric LeGuern

Journal:

The Lancet Neurology

Year:

2004

Language:

english

File:

PDF, 304 KB

english, 2004

35

Refinement of the 2p11.1-q12.2 locus responsible for cortical tremor associated with epilepsy and exclusion of candidate genes

Cécile Saint-Martin, Delphine Bouteiller, Giovanni Stevanin, Cyprian Popescu, Céline Charon, Merle Ruberg, Stéphanie Baulac, Eric LeGuern, Pierre Labauge, Christel Depienne

Journal:

Year:

2008

Language:

english

File:

PDF, 185 KB

english, 2008

36

Acute knockdown of Depdc5 leads to synaptic defects in mTOR-related epileptogenesis

De Fusco, Antonio, Cerullo, Maria Sabina, Marte, Antonella, Michetti, Caterina, Romei, Alessandra, Castroflorio, Enrico, Baulac, Stephanie, Benfenati, Fabio

Journal:

Neurobiology of Disease

Year:

2020

File:

PDF, 1.08 MB

2020

37

Le mosaïcisme somatique en cause dans les épilepsies neurodéveloppementales

Ribierre, Théo, Baulac, Stéphanie

Journal:

médecine/sciences

Year:

2019

Language:

french

File:

PDF, 520 KB

french, 2019

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