Depienne, C: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10

Cyril Goizet, Amir Boukhris, Emeline Mundwiller, Chantal Tallaksen, Sylvie Forlani, Annick Toutain, Nathalie Carriere, Véronique Paquis, Christel Depienne, Alexandra Durr, Giovanni Stevanin, Alexis Br

Journal:

Year:

2009

Language:

english

File:

PDF, 176 KB

english, 2009

2

A de novoSPASTmutation leading to somatic mosaicism is associated with a later age at onset in HSP

Christel Depienne, Estelle Fedirko, Jean-Marc Faucheux, Sylvie Forlani, Bernard Bricka, Cyril Goizet, Sylvie Lesourd, Giovanni Stevanin, Merle Ruberg, Alexandra Durr, Alexis Brice

Journal:

Year:

2007

Language:

english

File:

PDF, 186 KB

english, 2007

3

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality

N. Collongues, C. Depienne, N. Boehm, A. Echaniz-Laguna, B. Samama, A. Dürr, G. Stevanin, E. Leguern, A. Brice, P. Labauge, J. de Seze

Journal:

European Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 647 KB

english, 2012

4

Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

Bernard Puech, Arnaud Lacour, Giovanni Stevanin, Bruno G. Sautiere, David Devos, Christel Depienne, Elodie Denis, Emeline Mundwiller, Didier Ferriby, Patrick Vermersch, Sabine Defoort-Dhellemmes

Journal:

Year:

2011

Language:

english

File:

PDF, 1.80 MB

english, 2011

5

Unusual consequences of status epilepticus in Dravet syndrome

M. Chipaux, N. Villeneuve, P. Sabouraud, I. Desguerre, N. Boddaert, C. Depienne, C. Chiron, O. Dulac, R. Nabbout

Journal:

Year:

2010

Language:

english

File:

PDF, 283 KB

english, 2010

6

Tic e sindrome di Gilles de la Tourette

Hartmann, A., van Meerbeeck, P., Deniau, E., Béhar, C., Czernecki, V., Depienne, C., Worbe, Y.

Journal:

EMC - Neurologia

Year:

2011

Language:

italian

File:

PDF, 198 KB

italian, 2011

7

[IEEE 2003 IEEE International Symposium on Electromagnetic Compatibility, 2003. EMC '03. - Istanbul, Turkey (2003.05.16-2003.05.16)] 2003 IEEE International Symposium on Electromagnetic Compatibility, 2003. EMC '03. - The reverberating chamber: a useful tool to characterize the radiated power of small size RF devices

Depienne, S., Monebhurrun, V., Azoulay, A., Bolomey, J.-C.

Year:

2003

Language:

english

File:

PDF, 395 KB

english, 2003

8

Copy Number Variations Found in Patients with a Corpus Callosum Abnormality and Intellectual Disability

Heide, Solveig, Keren, Boris, Billette de Villemeur, Thierry, Chantot-Bastaraud, Sandra, Depienne, Christel, Nava, Caroline, Mignot, Cyril, Jacquette, Aurélia, Fonteneau, Eric, Lejeune, Elodie, Mach,

Journal:

The Journal of Pediatrics

Year:

2017

Language:

english

File:

PDF, 772 KB

english, 2017

9

A mutation update for the PCDH19 gene causing early-onset epilepsy in females with an unusual expression pattern

Niazi, Rojeen, Fanning, Elizabeth A., Depienne, Christel, Sarmady, Mahdi, Abou Tayoun, Ahmad N.

Journal:

Year:

2018

Language:

english

File:

PDF, 1017 KB

english, 2018

10

Detection of genomic rearrangements by DHPLC: A prospective study of 90 patients with inherited peripheral neuropathies associated with 17p11.2 rearrangements

Mourad Naïmi, Sandrine Tardieu, Christel Depienne, Merle Ruberg, Alexis Brice, Odile Dubourg, Eric LeGuern

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 125 KB

english, 2005

11

Intragenic deletion of UBE3A gene in 2 sisters with Angelman syndrome detected by MLPA

Juliette Piard, Christel Depienne, Boris Keren, Estelle Fédirko, Oriane Trouillard, Perrine Charles, Delphine Heron

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 3.63 MB

english, 2011

12

Spastic paraplegia 5: Locus refinement, candidate gene analysis and clinical description

Stephan Klebe, Alexandra Durr, Naima Bouslam, Djamel Grid, Caroline Paternotte, Christel Depienne, Sylvain Hanein, Ahmed Bouhouche, Nizar Elleuch, Hamid Azzedine, Sandrine Poea-Guyon, Sylvie Forlani,

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2007

Language:

english

File:

PDF, 855 KB

english, 2007

13

Mutations and deletions in PCDH19 account for various familial or isolated epilepsies in females

Christel Depienne, Oriane Trouillard, Delphine Bouteiller, Isabelle Gourfinkel-An, Karine Poirier, François Rivier, Patrick Berquin, Rima Nabbout, Denys Chaigne, Dominique Steschenko, Agnès Gautier, D

Journal:

Year:

2011

File:

PDF, 577 KB

2011

14

REEP1 mutations in SPG31: Frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

Cyril Goizet, Christel Depienne, Giovanni Benard, Amir Boukhris, Emeline Mundwiller, Guilhem Solé, Isabelle Coupry, Julie Pilliod, Marie-Laure Martin-Négrier, Estelle Fedirko, Sylvie Forlani, Cécile C

Journal:

Year:

2011

Language:

english

File:

PDF, 589 KB

english, 2011

15

PCDH19-related infantile epileptic encephalopathy: An unusual X-linked inheritance disorder

Christel Depienne, Eric LeGuern

Journal:

Year:

2012

Language:

english

File:

PDF, 202 KB

english, 2012

16

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

17

An unexpected EEG course in Dravet syndrome

Rima Nabbout, Isabelle Desguerre, Sandra Sabbagh, Christel Depienne, Perrine Plouin, Olivier Dulac, Catherine Chiron

Journal:

Epilepsy Research

Year:

2008

Language:

english

File:

PDF, 495 KB

english, 2008

18

CDKL5 and ARX mutations are not responsible for early onset severe myoclonic epilepsy in infancy

Rima Nabbout, Christel Depienne, Mathilde Chipaux, Benoit Girard, Isabelle Souville, Oriane Trouillard, Olivier Dulac, Jamel Chelly, Alexandra Afenjar, Delphine Héron, Eric Leguern, Cherif Beldjord, T

Journal:

Epilepsy Research

Year:

2009

Language:

english

File:

PDF, 157 KB

english, 2009

19

Lafora progressive myoclonus epilepsy:NHLRC1mutations affect glycogen metabolism

Philippe Couarch, Santiago Vernia, Isabelle Gourfinkel-An, Gaëtan Lesca, Svetlana Gataullina, Estelle Fedirko, Oriane Trouillard, Christel Depienne, Olivier Dulac, Dominique Steschenko, Eric Leguern,

Journal:

Journal of Molecular Medicine

Year:

2011

Language:

english

File:

PDF, 624 KB

english, 2011

20

Congenital mirror movements: a clue to understanding bimanual motor control

Cécile Galléa, Traian Popa, Ségolène Billot, Aurélie Méneret, Christel Depienne, Emmanuel Roze

Journal:

Journal of Neurology

Year:

2011

Language:

english

File:

PDF, 255 KB

english, 2011

21

A novel locus for autosomal dominant “uncomplicated” hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3

Sylvain Hanein, Alexandra Dürr, Pascale Ribai, Sylvie Forlani, Anne-Louise Leutenegger, Isabelle Nelson, Marie-Claude Babron, Nizar Elleuch, Christel Depienne, Céline Charon, Alexis Brice, Giovanni St

Journal:

Year:

2007

Language:

english

File:

PDF, 659 KB

english, 2007

22

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

23

NIPA1(SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe

Stephan Klebe, Arnaud Lacour, Alexandra Durr, Tanya Stojkovic, Christel Depienne, Sylvie Forlani, Sandrine Poea-Guyon, Isabelle Vuillaume, Bernard Sablonniere, Patrick Vermersch, Alexis Brice, Giovann

Journal:

Year:

2007

Language:

english

File:

PDF, 71 KB

english, 2007

24

Evidence against haploinsuffiency of human ataxin 10 as a cause of spinocerebellar ataxia type 10

Boris Keren, Aurélia Jacquette, Christel Depienne, Patricia Leite, Alexandra Durr, Wassila Carpentier, Baya Benyahia, Gerard Ponsot, Florent Soubrier, Alexis Brice, Delphine Héron

Journal:

Year:

2010

Language:

english

File:

PDF, 128 KB

english, 2010

25

Familial form of typical childhood absence epilepsy in a consanguineous context

Hanen Abouda, Yosr Hizem, Amina Gargouri, Christel Depienne, Delphine Bouteiller, Florence Riant, Elisabeth Tournier-Lasserve, Isabelle Gourfinkel-An, Eric LeGuern, Riadh Gouider

Journal:

Year:

2010

Language:

english

File:

PDF, 207 KB

english, 2010

26

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

27

Mental deficiency in three families with SPG4 spastic paraplegia

Ribaï, Pascale, Depienne, Christel, Fedirko, Estelle, Jothy, Anne-Catherine, Viveweger, Caterine, Hahn-Barma, Valérie, Brice, Alexis, Durr, Alexandra

Journal:

European Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 175 KB

english, 2007

28

Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency

Mercedes Serrano, Mónica Rebollo, Christel Depienne, Agnès Rastetter, Emilio Fernández-Álvarez, Jordi Muchart, Loreto Martorell, Rafael Artuch, José A. Obeso, Belén Pérez-Dueñas

Journal:

Movement Disorders

Year:

2012

Language:

english

File:

PDF, 257 KB

english, 2012

29

Interaction of Human Immunodeficiency Virus Type 1 Vpr with the HHR23A DNA Repair Protein Does Not Correlate with Multiple Biological Functions of Vpr

Louis M. Mansky, Sandra Preveral, Erwann Le Rouzic, Lisa C. Bernard, Luc Selig, Christel Depienne, Richard Benarous, Serge Benichou

Journal:

Year:

2001

Language:

english

File:

PDF, 309 KB

english, 2001

30

Phylogenetic Analysis of 49 Newly Derived HIV-1 Group O Strains: High Viral Diversity but No Group M-like Subtype Structure

P. Roques, D.L. Robertson, S. Souquière, F. Damond, A. Ayouba, I. Farfara, C. Depienne, E. Nerrienet, D. Dormont, F. Brun-Vézinet, F. Simon, P. Mauclère

Journal:

Year:

2002

Language:

english

File:

PDF, 514 KB

english, 2002

31

RAD51 Haploinsufficiency Causes Congenital Mirror Movements in Humans

Christel Depienne, Delphine Bouteiller, Aurélie Méneret, Ségolène Billot, Sergiu Groppa, Stephan Klebe, Fanny Charbonnier-Beaupel, Jean-Christophe Corvol, Jean-Paul Saraiva, Norbert Brueggemann, Kaila

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.09 MB

english, 2012

32

Silencing of the Charcot–Marie–Tooth associated MTMR2 gene decreases proliferation and enhances cell death in primary cultures of Schwann cells

Alexandre Chojnowski, Nicole Ravisé, Corinne Bachelin, Christel Depienne, Merle Ruberg, Bernard Brugg, Jocelyn Laporte, Anne Baron-Van Evercooren, Eric LeGuern

Journal:

Neurobiology of Disease

Year:

2007

Language:

english

File:

PDF, 1.05 MB

english, 2007

33

3FC1.5 Biotin-responsive basal ganglia disease: New features in two Spanish siblings with mutations in the second thiamine transporter gene SLC19A3

M. Serrano, V. González, M. Pineda, E. Fernandez-Alvarez, R. Artuch, L. Martorell, F. Sedel, C. Depienne, B. Perez-Dueñas

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 38 KB

english, 2011

34

Cellular Distribution and Karyophilic Properties of Matrix, Integrase, and Vpr Proteins from the Human and Simian Immunodeficiency Viruses

Christel Depienne, Pierre Roques, Christophe Créminon, Lauriane Fritsch, Richard Casseron, Dominique Dormont, Catherine Dargemont, Serge Benichou

Journal:

Experimental Cell Research

Year:

2000

Language:

english

File:

PDF, 275 KB

english, 2000

35

Pleiotrophin mediates the neurotrophic effect of cyclic AMP on dopaminergic neurons: Analysis of suppression-subtracted cDNA libraries and confirmation in vitro

Sophie Mourlevat, Thomas Debeir, Juan E. Ferrario, Jean Delbe, Daniele Caruelle, Olivier Lejeune, Christel Depienne, José Courty, Rita Raisman-Vozari, Merle Ruberg

Journal:

Experimental Neurology

Year:

2005

Language:

english

File:

PDF, 665 KB

english, 2005

36

Microsatellite analysis of HSV-1 isolates: From oropharynx reactivation toward lung infection in patients undergoing mechanical ventilation

C. Deback, C.E. Luyt, S. Lespinats, C. Depienne, D. Boutolleau, J. Chastre, H. Agut

Journal:

Journal of Clinical Virology

Year:

2010

Language:

english

File:

PDF, 599 KB

english, 2010

37

Mutations in the SPG3A gene encoding the GTPase atlastin interfere with vesicle trafficking in the ER/Golgi interface and Golgi morphogenesis

M. Namekawa, M.-P. Muriel, A. Janer, M. Latouche, A. Dauphin, T. Debeir, E. Martin, C. Duyckaerts, A. Prigent, C. Depienne, A. Sittler, A. Brice, M. Ruberg

Journal:

Molecular and Cellular Neuroscience

Year:

2007

Language:

english

File:

PDF, 2.35 MB

english, 2007

38

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

Depienne, C., Fedirko, E., Forlani, S., Cazeneuve, C., Ribai, P., Feki, I., Tallaksen, C., Nguyen, K., Stankoff, B., Ruberg, M., Stevanin, G., Durr, A., Brice, A.

Journal:

Journal of Medical Genetics

Year:

2007

Language:

english

File:

PDF, 182 KB

english, 2007

39

Screening for Genomic Rearrangements and Methylation Abnormalities of the 15q11-q13 Region in Autism Spectrum Disorders

Christel Depienne, Daniel Moreno-De-Luca, Delphine Heron, Delphine Bouteiller, Aurélie Gennetier, Richard Delorme, Pauline Chaste, Jean-Pierre Siffroi, Sandra Chantot-Bastaraud, Baya Benyahia, Oriane

Journal:

Biological Psychiatry

Year:

2009

Language:

english

File:

PDF, 510 KB

english, 2009

40

K-complex-induced seizures in autosomal dominant nocturnal frontal lobe epilepsy

J. El Helou, V. Navarro, C. Depienne, E. Fedirko, E. LeGuern, M. Baulac, I. An-Gourfinkel, C. Adam

Journal:

Clinical Neurophysiology

Year:

2008

Language:

english

File:

PDF, 497 KB

english, 2008

41

PO18-WE-08 Familial forms of childhood absence epilepsy in an endogamous context

Y. Hizem, H. Abouda, A. Gargouri, C. Depienne, I. Gourfinkel-An, E. Leguern, R. Gouider

Journal:

Journal of the Neurological Sciences

Year:

2009

Language:

english

File:

PDF, 44 KB

english, 2009

42

Brain white matter oedema due to ClC-2 chloride channel deficiency: an observational analytical study

Depienne, Christel, Bugiani, Marianna, Dupuits, Céline, Galanaud, Damien, Touitou, Valérie, Postma, Nienke, van Berkel, Carola, Polder, Emiel, Tollard, Eleonore, Darios, Frédéric, Brice, Alexis, de Di

Journal:

The Lancet Neurology

Year:

2013

Language:

english

File:

PDF, 4.13 MB

english, 2013

43

Familial cortical myoclonic tremor with epilepsy (FCMTE): Clinical characteristics and exclusion of linkages to 8q and 2p in a large French family

Magnin, E., Vidailhet, M., Depienne, C., Saint-Martin, C., Bouteiller, D., LeGuern, E., Apartis, E., Rumbach, L., Labauge, P.

Journal:

Revue Neurologique

Year:

2009

Language:

english

File:

PDF, 366 KB

english, 2009

44

Medical News.

Klebe, S., Lacour, A., Durr, A., Stojkovic, T., Depienne, C., Forlani, S., Poca-Guyon, S., Vuillaume, I., Sablonniere, B., Vermersch, P., Brice, A., Stevanin, G.

Journal:

Year:

1918

Language:

english

File:

PDF, 407 KB

english, 1918

45

M - 10 Mutations du gène NIPA1 (SPG6) : une cause rare de paraparésie spastique héréditaire en Europe

Klebe, S., Lacour, A., Durr, A., Stojkovic, T., Depienne, C., Forlani, S., Poca-Guyon, S., Vuillaume, I., Sablonniere, B., Vermersch, P., Brice, A., Stevanin, G.

Journal:

Revue Neurologique

Year:

2007

Language:

french

File:

PDF, 56 KB

french, 2007

46

Tremblement cortical familial associé à une épilepsie : localisation génétique en 5p

Depienne, C., Magnin, E., Bouteiller, D., Stevanin, G., Saint-Martin, C., Vidailhet, M., Apartis, E., LeGuern, E., Labauge, P., Rumbach, L.

Journal:

Revue Neurologique

Year:

2010

Language:

french

File:

PDF, 223 KB

french, 2010

47

Loss of Association of REEP2 with Membranes Leads to Hereditary Spastic Paraplegia

Esteves, Typhaine, Durr, Alexandra, Mundwiller, Emeline, Loureiro, José L., Boutry, Maxime, Gonzalez, Michael A., Gauthier, Julie, El-Hachimi, Khalid H., Depienne, Christel, Muriel, Marie-Paule, Acost

Journal:

The American Journal of Human Genetics

Year:

2014

Language:

english

File:

PDF, 1.79 MB

english, 2014

48

Annonacin, a natural lipophilic mitochondrial complex I inhibitor, increases phosphorylation of tau in the brain of FTDP-17 transgenic mice

Yamada, Elizabeth S., Respondek, Gesine, Müssner, Stefanie, de Andrade, Anderson, Höllerhage, Matthias, Depienne, Christel, Rastetter, Agnès, Tarze, Agathe, Friguet, Bertrand, Salama, Mohamed, Champy,

Journal:

Experimental Neurology

Year:

2014

Language:

english

File:

PDF, 2.34 MB

english, 2014

49

EFFECT OF FLIGHT ON THE MIDDLE EAR

Hartmann, A., van Meerbeeck, P., Deniau, E., Béhar, C., Czernecki, V., Depienne, C., Worbe, Y.

Journal:

Year:

1937

Language:

english

File:

PDF, 365 KB

english, 1937

50

Les paraparésies spastiques héréditaires

Charles, P., Depienne, C., Stevanin, G., Brice, A., Dürr, A.

Journal:

Pratique Neurologique - FMC

Year:

2010

Language:

french

File:

PDF, 728 KB

french, 2010