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1

Verbal and visual memory impairment in childrem with epilepsy

Isabelle Jambaqué, Georges Dellatolas, Olivier Dulac, Gerard Ponsot, Jean-Louis Signoret

Journal:

Neuropsychologia

Year:

1993

Language:

english

File:

PDF, 678 KB

english, 1993

2

Prenatal diagnosis of cerebral malformation with an uncertain prognosis: a study concerning couple’s information and consequences on pregnancy

Marie-Laure Moutard, Grégoire Moutel, Irène François, Isabelle Fauriel, Josué Feingold, Gérard Ponsot, Christian Hervé

Journal:

Annales de Génétique

Year:

2004

Language:

english

File:

PDF, 121 KB

english, 2004

3

Intrathecal synthesis of different alpha-interferons in patients with various neurological diseases

Elisabeth Dussaix, Pierre Lebon, Gérard Ponsot, Gilbert Huault, Marc Tardieu

Journal:

Acta Neurologica Scandinavica

Year:

1985

Language:

english

File:

PDF, 385 KB

english, 1985

4

An answer to F. Andermann's letter [1] about our case report: Bilateral porencephalic defect in a newborn after injection of benzol during pregnancy [2]

Bordarier, Cécile, Robain, Olivier, Ponsot, Gérard

Journal:

Brain and Development

Year:

1992

Language:

english

File:

PDF, 150 KB

english, 1992

5

Kearns-Sayre Syndrome with Sideroblastic Anemia: Molecular Investigations

Nelson, Isabelle, Bonne, Gisèle, Degoul, Françoise, Marsac, Cécile, Ponsot, Gérard, Lestienne, Patrick

Journal:

Neuropediatrics

Year:

1992

Language:

english

File:

PDF, 463 KB

english, 1992

6

Is Rett syndrome a chromosome breakage syndrome?

Dr. Louise Telvi, Marion Leboyer, Catherine Chiron, Josué Feingold, Gérard Ponsot

Journal:

American Journal of Medical Genetics Part A

Year:

1994

Language:

english

File:

PDF, 373 KB

english, 1994

7

Clinical heterogeneity in PDH deficiency with mutations in PDH-E1 gene

De Meirleir, Linda, Lissens, Willy, Wayenberg, Jean-Louis, Vamos, Esther, Ponsot, Gerard, Juif, Jean, Liebaers, Inge

Journal:

Pediatric Neurology

Year:

1992

Language:

english

File:

PDF, 123 KB

english, 1992

8

Benefit of intravenous immunoglobulin in autoimmune stiff-person syndrome in a child

Mikaeloff, Yann, Jambaque, Isabelle, Mayer, Michele, Ponsot, Gerard, Kalifa, Gabriel, Carel, Jean-Claude

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 47 KB

english, 2001

9

Orphan drugs and orphan diseases

Jaime Campos-Castelló, Gerard Ponsot, François Feillet, M Vidailhet, Irène Maire

Journal:

European Journal of Paediatric Neurology

Year:

2000

Language:

english

File:

PDF, 137 KB

english, 2000

10

Biochemical and genetic studies of four patients with pyruvate dehydrogenase E1α deficiency

Cécile Marsac, Chantal Benelli, Isabelle Desguerre, Monique Diry, Françoise Fouque, L. De Meirleir, Gérard Ponsot, S. Seneca, Florence Poggi, Jean-Marie Saudubray, Marie-Thérèse Zabot, Daniel Fontan,

Journal:

Year:

1997

Language:

english

File:

PDF, 114 KB

english, 1997

11

A case of mitochondrial encephalomyopathy associated with a muscle coenzyme Q10 deficiency

Eric Boitier, Françoise Degoul, Isabelle Desguerre, Christiane Charpentier, Dominique François, Gérard Ponsot, Monique Diry, Pierre Rustin, Cécile Marsac

Journal:

Journal of the Neurological Sciences

Year:

1998

Language:

english

File:

PDF, 66 KB

english, 1998

12

Pyruvate dehydrogenase deficiency in a female due to a 4 base pair deletion in exon 10 of the E1α gene

Lissens, Willy, Desguerre, Isabelle, Benelli, Chantal, Marsac, Cécile, Fouque, Françoise, Haenggell, Charles, Ponsot, Gérard, Seneca, Sara, Liebaers, Inge, Meirleir, Linda De

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 1.77 MB

english, 1995

13

Pyruvate dehydrogenase complex deficiency: four neurological phenotypes with differing pathogenesis

CHRISTINE BARNERIAS, JEAN-MARIE SAUDUBRAY, GUY TOUATI, PASCALE DE LONLAY, OLIVIER DULAC, GERARD PONSOT, CÉCILE MARSAC, MICHÈLE BRIVET, ISABELLE DESGUERRE

Journal:

Developmental Medicine & Child Neurology

Year:

2010

Language:

english

File:

PDF, 306 KB

english, 2010

14

Segregation of three reciprocal translocations in the same family: t(3;4), t(5;10), and t(15;21)

Dr. Louise Telvi, Martine Folhen, Odile Raoul, Josué Feingold, Gérard Ponsot, Alain Pompidou, Marie O. Rethoré, Jérǒme Lejeune

Journal:

American Journal of Medical Genetics Part A

Year:

1992

Language:

english

File:

PDF, 339 KB

english, 1992

15

Recessive Schwartz-Jampel syndrome (SJS): confirmation of linkage to chromosome 1p, evidence of genetic homogeneity and reduction of the SJS locus to a 3-cM interval

B. Fontaine, Sophie Nicole, Haluk Topaloglu, C. Ben Hamida, Peter Beighton, Frank Spaans, Jose M. A. Cantu, Salim Bakouri, Norma Romero, K. Ricker, Patricio Barros-Nunez, Gérard Ponsot, M. Ben Hamida,

Journal:

Year:

1996

Language:

english

File:

PDF, 46 KB

english, 1996

16

Inherited microdeletion in Xp21.3–22.1 involved in non-specific mental retardation

Vincent des Portes, Alain Carrié, Pierre Billuare, Virginie Kieffer, Thierry Bienvenu, Marie Claude Vinet, Cherif Beldjord, Axel Kahn, Gérard Ponsot, Jamel Chelly, Marie Laure Moutard

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 1.18 MB

english, 1998

17

Childhood dermatomyositis: Clinical course of 36 patients treated with low doses of corticosteroids

Brahim Tabarki, Gerard Ponsot, Anne-Marie Prieur, Marc Tardieu

Journal:

European Journal of Paediatric Neurology

Year:

1998

Language:

english

File:

PDF, 503 KB

english, 1998

18

Interferon-β treatment in patients with childhood-onset multiple sclerosis

Yann Mikaeloff, Thibault Moreau, Marc Debouverie, Jean Pelletier, Christine Lebrun, Olivier Gout, Jean-Michel Pedespan, Catherine Van Hulle, Patrick Vermersch, Gérard Ponsot

Journal:

The Journal of Pediatrics

Year:

2001

Language:

english

File:

PDF, 56 KB

english, 2001

19

Unexplained mental retardation: is brain MRI useful?

Fabrice Decobert, Sophie Grabar, Valerie Merzoug, Gabriel Kalifa, Gérard Ponsot, Catherine Adamsbaum, Vincent des Portes

Journal:

Pediatric Radiology

Year:

2005

Language:

english

File:

PDF, 531 KB

english, 2005

20

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

21

Limits of Early Diagnosis of Herpes Simplex Encephalitis in Children: A Retrospective Study of 38 Cases

De Tiege, Xavier, Heron, Benedicte, Lebon, Pierre, Ponsot, Gerard, Rozenberg, Flore

Journal:

Clinical Infectious Diseases

Year:

2003

Language:

english

File:

PDF, 84 KB

english, 2003

22

Detection of Measles Virus RNA in Lymphocytes from Peripheral-Blood and Brain Perivascular Infiltrates of Patients with Subacute Sclerosing Panencephalitis

Fournier, Jean-Guy, Tardieu, Marc, Lebon, Pierre, Robain, Olivier, Ponsot, Gérard, Rozenblatt, Shmuel, Bouteille, Michel

Journal:

Boston Medical and Surgical Journal

Year:

1985

Language:

english

File:

PDF, 8.33 MB

english, 1985

23

La personne polyhandicapée

Ponsot, Gérard

Journal:

Year:

2017

Language:

french

File:

PDF, 977 KB

french, 2017

24

Gene for nonspecific X-linked mental retardation (MRX 47) is located in Xq22.3-q24

des Portes, Vincent, Soufir, Nadem, Carrié, Alain, Billuart, Pierre, Bienvenu, Thierry, Vinet, Marie Claude, Beldjord, Cherif, Ponsot, Gérard, Kahn, Axel, Boué, Joelle, Chelly, Jamel

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 84 KB

english, 1997

25

KEARNS-SAYRE SYNDROME WITH MUSCLE MITOCHONDRIAL DNA DELETION

Lestienne, Patrick, Ponsot, Gérard

Journal:

Year:

1988

Language:

english

File:

PDF, 141 KB

english, 1988

26

Acute measles encephalitis of the delayed type

Dr. Gilles Lyon, Gérard Ponsot, Pierre Lebon

Journal:

Annals of Neurology

Year:

1977

Language:

english

File:

PDF, 746 KB

english, 1977

27

Agenesis of corpus callosum: prenatal diagnosis and prognosis

Marie-Laure Moutard, Virginie Kieffer, Josué Feingold, François Kieffer, Fanny Lewin, Catherine Adamsbaum, Antoinette Gélot, Jaume Campistol i Plana, Patrick van Bogaert, Monique André, Gérard Ponsot

Journal:

Child's Nervous System

Year:

2003

Language:

english

File:

PDF, 152 KB

english, 2003

28

First episode of acute CNS inflammatory demyelination in childhood: prognostic factors for multiple sclerosis and disability

Yann Mikaeloff, Samy Suissa, Louis Vallée, Catherine Lubetzki, Gérard Ponsot, Christian Confavreux, Marc Tardieu, KIDMUS Study Group

Journal:

The Journal of Pediatrics

Year:

2004

Language:

english

File:

PDF, 187 KB

english, 2004

29

Bilateral porencephalic defect in a newborn after injection of benzol during pregnancy

Bordarier, Cécile, Robain, Olivier, Ponsot, Gérard

Journal:

Brain and Development

Year:

1991

Language:

english

File:

PDF, 1.87 MB

english, 1991

30

El Pyruvate Dehydrogenase Deficiency in a Child with Motor Neuropathy

Bonne, Gisèle, Benelli, Chantal, Meirleir, Linda De, Lissens, Willy, Chaussain, Michèle, Diry, Monique, Clot, Jean-Pierre, Ponsot, Gérard, Geoffroy, Valèrie, Leroux, Jean-Paul, Marsac, Cécile

Journal:

Pediatric Research

Year:

1993

Language:

english

File:

PDF, 623 KB

english, 1993

31

Herpes simplex encephalitis: diagnostic problems and late relapse

Xavier De Tiège, Flore Rozenberg, Karine Burlot, Joël Gaudelus, Gérard Ponsot, Bénédicte Héron

Journal:

Developmental Medicine & Child Neurology

Year:

2006

Language:

english

File:

PDF, 276 KB

english, 2006

32

Aicardi–Goutières syndrome: monogenic recessive disease, genetically heterogeneous disease, or multifactorial disease?

Sabine Fauré, Isabelle Bordelais, Catherine Marquette, Chris Rittey, Jaime Campos-Castello, Françoise Goutières, Gérard Ponsot, Jean Weissenbach, Pierre Lebon

Journal:

Clinical Genetics

Year:

1999

Language:

english

File:

PDF, 125 KB

english, 1999

33

Mapping of heteroplasmic mitochondrial DNA deletions in Kearns-Sayre syndrome

Nelson, Isabelle, Degoul, Françoise, Obermaier-kusser, Bert, Romero, Norma, Borrone, Carla, Marsac, Cécile, Vayssiere, Jean-Luc, Gerbitz, K., Fardeau, Michel, Ponsot, Gérard, Lestienne, Patrick

Journal:

Nucleic Acids Research

Year:

1989

Language:

english

File:

PDF, 2.40 MB

english, 1989

34

Localization of the Schwartz–Jampel syndrome (SJS) locus to chromosome 1p34–p36.1 by homozygosity mapping

Nicole, Sophie, Hamida, Christiane Ben, Beighton, Peter, Bakouri, Selim, Belal, Samir, Romero, Norma, Viljoen, Denis, Ponsot, Gérard, Sammoud, Azza, Weissenbach, Jean, Fardeau, Michel, Hamida, Mongi B

Journal:

Human Molecular Genetics

Year:

1995

Language:

english

File:

PDF, 366 KB

english, 1995

35

Aberrant Splicing of Exon 6 in the Pyruvate Denydrogenase-Elα mRNA Linked to a Silent Mutation in a Large Family with Leigh's Encephalomyelopathy

De Meirleir, Linda, Lissens, Willy, Benelli, Chantal, Ponsot, Gerard, Desguerre, Isabelle, Marsac, Cécile, Rodriguez, Diana, Saudubray, Jean-Marie, Poggi, Florence, Liebaers, Inge

Journal:

Pediatric Research

Year:

1994

Language:

english

File:

PDF, 567 KB

english, 1994

36

Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy

Pierre Lebon, Jean Badoual, Gérard Ponsot, Françoise Goutières, Françoise Hémeury-Cukier, Jean Aicardi

Journal:

Journal of the Neurological Sciences

Year:

1988

Language:

english

File:

PDF, 378 KB

english, 1988

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