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1

Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France

Gaëtan Lesca, Henri Plauchu, Florence Coulet, Sylvain Lefebvre, Ghislaine Plessis, Sylvie Odent, Sophie Rivière, Bruno Leheup, Cyril Goizet, Marie-France Carette, Jean-François Cordier, Stéphane Pinso

Journal:

Year:

2004

Language:

english

File:

PDF, 391 KB

english, 2004

2

Distribution of ENG and ACVRL1 (ALK1) mutations in French HHT patients

Gaëtan Lesca, Nelly Burnichon, Grégory Raux, Mario Tosi, Stéphane Pinson, Marie-Jeanne Marion, Emmanuel Babin, Brigitte Gilbert-Dussardier, Sophie Rivière, Cyril Goizet, Laurence Faivre, Henri Plauchu

Journal:

Year:

2006

Language:

english

File:

PDF, 304 KB

english, 2006

3

Non-specific gastrointestinal features: Could it be Fabry disease?

Hilz, Max J., Arbustini, Eloisa, Dagna, Lorenzo, Gasbarrini, Antonio, Goizet, Cyril, Lacombe, Didier, Liguori, Rocco, Manna, Raffaele, Politei, Juan, Spada, Marco, Burlina, Alessandro

Journal:

Digestive and Liver Disease

Year:

2018

Language:

english

File:

PDF, 2.43 MB

english, 2018

4

Adult Niemann-Pick disease type C in France: clinical phenotypes and long-term miglustat treatment effect

Nadjar, Yann, Hütter-Moncada, Ana Lucia, Latour, Philippe, Ayrignac, Xavier, Kaphan, Elsa, Tranchant, Christine, Cintas, Pascal, Degardin, Adrian, Goizet, Cyril, Laurencin, Chloe, Martzolff, Lionel, T

Journal:

Orphanet Journal of Rare Diseases

Year:

2018

Language:

english

File:

PDF, 1.64 MB

english, 2018

5

Les aspects théoriques régissant l'instrumentation d'un capteur thermique pariétal à faible inertie

Brahim Bourouga, Vincent Goizet, Jean-Pierre Bardon

Journal:

International Journal of Thermal Sciences

Year:

2000

Language:

french

File:

PDF, 302 KB

french, 2000

6

Les ataxies cérébelleuses autosomiques dominantes

Goizet, C., Anheim, M., Stevanin, G.

Journal:

Pratique Neurologique - FMC

Year:

2012

File:

PDF, 677 KB

2012

7

Paraplegie spastiche ereditarie

Coignion, C., Banneau, G., Goizet, C.

Journal:

EMC - Neurologia

Year:

2016

Language:

italian

File:

PDF, 662 KB

italian, 2016

8

Atrophies (dégénérescences) cérébelleuses tardives

Meissner, W., Tison, F., Goizet, C.

Journal:

EMC - Neurologie

Year:

2013

Language:

french

File:

PDF, 3.14 MB

french, 2013

9

Genetics of amyotrophic lateral sclerosis: A review

Mathis, Stéphane, Goizet, Cyril, Soulages, Antoine, Vallat, Jean-Michel, Masson,

Journal:

Journal of the Neurological Sciences

Year:

2019

File:

PDF, 770 KB

2019

10

Array-CGH analysis of a cohort of 86 patients with oculoauriculovertebral spectrum

Caroline Rooryck, Noui Souakri, Dorothée Cailley, Julie Bouron, Cyril Goizet, Marie-Ange Delrue, Sandrine Marlin, Feclad Didier Lacombe, Benoît Arveiler

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 95 KB

english, 2010

11

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

12

Homozygosity for dominant mutations increases severity of muscle channelopathies

Marianne Arzel-hézode, Damien Sternberg, Nacira Tabti, Savine Vicart, Cyril Goizet, Bruno Eymard, Bertrand Fontaine, Emmanuel Fournier

Journal:

Year:

2010

Language:

english

File:

PDF, 606 KB

english, 2010

13

Le contact thermique pièce–outil lors d'une opération de forgeage à chaud: validation de l'hypothèse de résistance thermique de contact et influence de la loi de comportement de la pièce: The workpiece–die thermal contact during a hot forging process: validation of the thermal contact resistance assumption and influence of the workpiece constitutive law

B Bourouga, V Goizet, J.P Bardon

Journal:

International Journal of Heat and Mass Transfer

Year:

2001

Language:

english

File:

PDF, 344 KB

english, 2001

14

Modèle predictif de résistance thermique de contact dynamique adapté au cas de l’interface pièce–outil de forgeage

Brahim Bourouga, Vincent Goizet, Jean Pierre Bardon

Journal:

International Journal of Heat and Mass Transfer

Year:

2003

File:

PDF, 315 KB

2003

15

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

16

Spectrum of pontocerebellar hypoplasia in 13 girls and boys withCASKmutations: confirmation of a recognizable phenotype and first description of a male mosaic patient

Lydie Burglen, Sandra Chantot-Bastaraud, Catherine Garel, Mathieu Milh, Renaud Touraine, Ginevra Zanni, Florence Petit, Alexandra Afenjar, Cyril Goizet, Sabina Barresi, Aurélie Coussement, Christine I

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 949 KB

english, 2012

17

Utilisation et impact des neuroleptiques dans la maladie de Huntington : étude à partir de la cohorte du réseau Huntington de langue française

Désaméricq, G., Dolbeau, G., Durr, A., Verny, C., Azulay, J.-P., Krystkowiak, P., Tranchant, C., Goizet, C., Damier, P., Suplot, F., Broussolle, E., Demonet, J.-F., Marie, R.M., Verin, M., Bachoud-Lév

Journal:

Revue d'Épidémiologie et de Santé Publique

Year:

2011

Language:

french

File:

PDF, 62 KB

french, 2011

18

Incontinencia pigmentaria

Redouani-Kherbaoui, L., Goizet, C., Léauté-Labrèze, C.

Journal:

EMC - Dermatología

Year:

2003

Language:

spanish

File:

PDF, 1.82 MB

spanish, 2003

19

Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia

Coutelier, Marie, Goizet, Cyril, Durr, Alexandra, Habarou, Florence, Morais, Sara, Dionne-Laporte, Alexandre, Tao, Feifei, Konop, Juliette, Stoll, Marion, Charles, Perrine, Jacoupy, Maxime, Matusiak,

Journal:

Year:

2015

Language:

english

File:

PDF, 901 KB

english, 2015

20

Early treatment with laronidase improves clinical outcomes in patients with attenuated MPS I: a retrospective case series analysis of nine sibships

Al-Sannaa, Nouriya A., Bay, Luisa, Barbouth, Deborah S., Benhayoun, Youssef, Goizet, Cyril, Guelbert, Norberto, Jones, Simon A., Kyosen, Sandra Obikawa, Martins, Ana Maria, Phornphutkul, Chanika, Reig

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 1.33 MB

english, 2015

21

An Application of NGS for Molecular Investigations in Perrault Syndrome: Study of 14 Families and Review of the Literature

Lerat, Justine, Jonard, Laurence, Loundon, Natalie, Christin-Maitre, Sophie, Lacombe, Didier, Goizet, Cyril, Rouzier, Cécile, Van Maldergem, Lionel, Gherbi, Souad, Garabedian, Eréa-Nöel, Bonnefont, Je

Journal:

Year:

2016

Language:

english

File:

PDF, 643 KB

english, 2016

22

Déficit en sphingomyélinase acide (maladie de Niemann-Pick B) : une étude rétrospective multicentrique de 28 patients adultes

Lidove, O., Belmatoug, N., Froissart, R., Lavigne, C., Durieu, I., Mazodier, K., Serratrice, C., Douillard, C., Goizet, C., Cathebras, P., Besson, G., Amoura, Z., Tazi, A., Gatfossé, M., Rivière, S.,

Journal:

La Revue de Médecine Interne

Year:

2017

Language:

french

File:

PDF, 1.55 MB

french, 2017

23

Whole exome sequencing in non progressive congenital ataxia consanguineous families: 3 genes lumping with early infantile epileptic encephalopathies

Valence, Stéphanie, Garel, Catherine, Chantot Bastaraud, Sandra, Afenjar, Alexandra, Barthez, Marie Anne, Bednarek, Nathalie, Goizet, Cyril, Lacombe, Didier, Milh, Mathieu, Moutard, Marie Laure, Robin

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 173 KB

english, 2017

24

Presenting signs and symptoms of MPS: Results of an international physician survey

Mitchell, John, Clarke, Lorne, Ellaway, Carolyn, Foster, Helen, Giugliani, Roberto, Goizet, Cyril, Goring, Sarah, Hawley, Sara M., Jurecki, Elaina, Khan, Zaeem, Lampe, Christina, Martin, Ken, McMullen

Journal:

Molecular Genetics and Metabolism

Year:

2018

Language:

english

File:

PDF, 74 KB

english, 2018

25

Understanding the Early Presentation of Mucopolysaccharidoses Disorders

Clarke, Lorne, Ellaway, Carolyn, Foster, Helen E., Giugliani, Roberto, Goizet, Cyril, Goring, Sarah, Hawley, Sara, Jurecki, Elaina, Khan, Zaeem, Lampe, Christina, Martin, Ken, McMullen, Suzanne, Mitch

Journal:

Journal of Inborn Errors of Metabolism & Screening

Year:

2018

Language:

english

File:

PDF, 665 KB

english, 2018

26

Natural history of adult patients with GM2 gangliosidosis

Marion, Masingue, Louis, Dufour, TimothÃ©e, Lenglet, Lisa, Saleille, Cyril, Goizet, Xavier, Ayrignac, Fabienne, Ory, Magali, Barth, Foudil, Lamari, Daniele, Mandia, Catherine, Caillaud, Yann, Nadjar

Journal:

Annals of Neurology

Year:

2020

Language:

english

File:

PDF, 2.35 MB

english, 2020

27

The real impact of full hydroplaning on driving safety

SpitzhÃ¼ttl, Florian, Goizet, Fabrice, Unger, Thomas, Biesse, Frederic

Journal:

Accident Analysis & Prevention

Year:

2020

File:

PDF, 5.61 MB

2020

28

MRI of neurodegeneration with brain iron accumulation

LehÃ©ricy, StÃ©phane, Roze, Emmanuel, Goizet, Cyril, Mochel, Fanny

Journal:

Current Opinion in Neurology

Year:

2020

File:

PDF, 790 KB

2020

29

Submicroscopic deletion of chromosome 16p13.3 in patients with Rubinstein-Taybi syndrome

Taine, Laurence, Goizet, Cyril, Wen, Zong Qi, Petrij, Fred, Breuning, Martijn H., Aym�, S�gol�ne, Saura, Robert, Arveiler, Benoit, Lacombe, Didier

Journal:

American Journal of Medical Genetics

Year:

1998

Language:

english

File:

PDF, 76 KB

english, 1998

30

W syndrome: Report of three cases and review

Goizet, Cyril, Bonneau, Dominique, Lacombe, Didier

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 215 KB

english, 1999

31

Case with autistic syndrome and chromosome 22q13.3 deletion detected by FISH

Cyril Goizet, Elsa Excoffier, Laurence Taine, Emmanuelle Taupiac, Azza Abd El Moneim, Benoit Arveiler, Manuel Bouvard, Didier Lacombe

Journal:

American Journal of Medical Genetics Part A

Year:

2000

Language:

english

File:

PDF, 198 KB

english, 2000

32

Behavioral and temperamental features of children with Costello syndrome

Cédric Galéra, Marie-Ange Delrue, Cyril Goizet, Kattalin Etchegoyhen, Emmanuelle Taupiac, Sabine Sigaudy, Benoît Arveiler, Nicole Philip, Manuel Bouvard, Didier Lacombe

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 98 KB

english, 2006

33

Perrault syndrome: Report of four new cases, review and exclusion of candidate genes

Sandrine Marlin, Didier Lacombe, Laurence Jonard, Nicolas Leboulanger, Dominique Bonneau, Cyril Goizet, Thierry Billette de Villemeur, Sylvie Cabrol, Muriel Houang, Lucien Moatti, Delphine Feldmann, F

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 140 KB

english, 2008

34

Hereditary optic neuropathies share a common mitochondrial coupling defect

Arnaud Chevrollier, Virginie Guillet, Dominique Loiseau, Naïg Gueguen, Marie-Anne Pou de Crescenzo, Christophe Verny, Marc Ferre, Hélène Dollfus, Sylvie Odent, Dan Milea, Cyril Goizet, Patrizia Amati-

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 205 KB

english, 2008

35

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

36

Clinical phenotype and neuroimaging findings in a French family with hereditary ferritinopathy (FTL498-499InsTC)

Fabienne Ory-Magne, Christine Brefel-Courbon, Pierre Payoux, Sabrina Debruxelles, Igor Sibon, Cyril Goizet, Pierre Labauge, Patrice Menegon, Emmanuelle Uro-Coste, Bernardino Ghetti, Marie Bernadetle D

Journal:

Movement Disorders

Year:

2009

Language:

english

File:

PDF, 344 KB

english, 2009

37

Quantitative assessment of the evolution of cerebellar signs in spinocerebellar ataxias

Ellis Chan, Perrine Charles, Pascale Ribai, Cyril Goizet, Cecilia Marelli, Carlo-Maria Vincitorio, Alice Le Bayon, Lucie Guyant-Maréchal, Nadia Vandenberghe, Mathieu Anheim, David Devos, Leorah Freema

Journal:

Movement Disorders

Year:

2011

Language:

english

File:

PDF, 140 KB

english, 2011

38

Sol-gel polyimide-silica composite membrane: gas transport properties

C. Joly, S. Goizet, J.C. Schrotter, J. Sanchez, M. Escoubes

Journal:

Journal of Membrane Science

Year:

1997

Language:

english

File:

PDF, 781 KB

english, 1997

39

Ancestral origins of the prion protein gene D178N mutation in the Basque Country

Ana B. Rodríguez-Martínez, Christian Barreau, Isabelle Coupry, Jordi Yagüe, Raquel Sánchez-Valle, Luis Galdós-Alcelay, Agustín Ibáñez, Antón Digón, Ignacio Fernández-Manchola, Cyril Goizet, Azucena Ca

Journal:

Year:

2005

Language:

english

File:

PDF, 274 KB

english, 2005

40

Hereditary mucoepithelial dysplasia: clinical, ultrastructural and genetic study of eight patients and literature review

F. Boralevi, M. Haftek, P. Vabres, S. Lepreux, C. Goizet, C. Leaute-Labreze, A. Taieb

Journal:

British Journal of Dermatology

Year:

2005

Language:

english

File:

PDF, 488 KB

english, 2005

41

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

A Boukhris, G Stevanin, I Feki, P Denora, N Elleuch, MI Miladi, C Goizet, J Truchetto, S Belal, A Brice, C Mhiri

Journal:

Clinical Genetics

Year:

2009

Language:

english

File:

PDF, 297 KB

english, 2009

42

Histopathological features of X-linked Charcot-Marie-Tooth disease in 8 patients from 6 families with different connexin32 mutations

Anne Vital, Xavier Ferrer, Alain Lagueny, Antoon Vandenberghe, Philippe Latour, Cyril Goizet, Marie-Hélène Canron, Pierre Louiset, Klaus G. Petry, Claude Vital

Journal:

Journal of the Peripheral Nervous System

Year:

2001

Language:

english

File:

PDF, 405 KB

english, 2001

43

Molecular characterization of an 11q14.3 microdeletion associated with leukodystrophy

Dormoy, Virginie, Lacombe, Didier, Arveiler, Benoît, Goizet, Cyril, Coupry, Isabelle, Rooryck, Caroline, Taine, Laurence

Journal:

European Journal of Human Genetics

Year:

2004

Language:

english

File:

PDF, 118 KB

english, 2004

44

Detection of an Intragenic Deletion Expands the Spectrum of CTSC Mutations in Papillon–Lefèvre Syndrome

Jouary, Thomas, Goizet, Cyril, Coupry, Isabelle, Redonnet-Vernhet, Isabelle, Levade, Thierry, Burgelin, Ingrid, Toutain, Annick, Delaporte, Emmanuel, Douillard, Claire, Lacombe, Didier, Taieb, Alain,

Journal:

The Journal of Investigative Dermatology

Year:

2007

Language:

english

File:

PDF, 768 KB

english, 2007

45

A patient with hydranencephaly and PEHO-like dysmorphic features

Cyril Goizet, Caroline Espil-Taris, Marie Husson, Jean-François Chateil, Jean-Michel Pedespan, Didier Lacombe

Journal:

Annales de Génétique

Year:

2003

Language:

english

File:

PDF, 421 KB

english, 2003

46

Phenotypic heterogeneity in AAAS gene mutation

P Barat, C Goizet, A Tullio-Pelet, O Puel, C Labessan, A Barthelemy

Journal:

Acta Paediatrica

Year:

2004

Language:

english

File:

PDF, 54 KB

english, 2004

47

Cas radiologique du mois: Une tumeur de l'index droit

C. Espil-Taris, C. Goizet, S.Ramirez Del Villar, P. Pietrera, J.F. Chateil, P. Pillet

Journal:

Archives de Pédiatrie

Year:

2004

Language:

french

File:

PDF, 237 KB

french, 2004

48

Névralgie amyotrophiante héréditaire ou forme pédiatrique familiale du syndrome de Parsonage et Turner

M. Husson, C. Goizet, S. Rivera, D. Lacombe, J.M. Pedespan

Journal:

Archives de Pédiatrie

Year:

2004

Language:

french

File:

PDF, 123 KB

french, 2004

49

Intra-familial phenotypic heterogeneity in adult onset vanishing white matter disease

Nathalie Damon-Perriere, Patrice Menegon, Anne Olivier, Odile Boespflug-Tanguy, Florence Niel, Isabelle Creveaux, Vincent Dousset, Bruno Brochet, Cyril Goizet

Journal:

Clinical Neurology and Neurosurgery

Year:

2008

Language:

english

File:

PDF, 283 KB

english, 2008

50

Leber’s optic neuropathy associated with disseminated white matter disease: A case report and review

F. Perez, O. Anne, S. Debruxelles, P. Menegon, V. Lambrecq, D. Lacombe, M.L. Martin-Negrier, B. Brochet, C. Goizet

Journal:

Clinical Neurology and Neurosurgery

Year:

2009

Language:

english

File:

PDF, 368 KB

english, 2009

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