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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:

Année:

2004

Langue:

english

Fichier:

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:

Année:

2006

Langue:

english

Fichier:

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

Année:

2018

Langue:

english

Fichier:

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

Année:

2018

Langue:

english

Fichier:

PDF, 1.64 MB

english, 2018

5

Genetics of amyotrophic lateral sclerosis: A review

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

Journal:

Journal of the Neurological Sciences

Année:

2019

Fichier:

PDF, 770 KB

2019

6

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

Année:

2010

Langue:

english

Fichier:

PDF, 95 KB

english, 2010

7

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:

Année:

2009

Langue:

english

Fichier:

PDF, 176 KB

english, 2009

8

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:

Année:

2010

Langue:

english

Fichier:

PDF, 606 KB

english, 2010

9

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:

Année:

2007

Langue:

english

Fichier:

PDF, 186 KB

english, 2007

10

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

Année:

2012

Langue:

english

Fichier:

PDF, 949 KB

english, 2012

11

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:

Année:

2015

Langue:

english

Fichier:

PDF, 901 KB

english, 2015

12

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

Année:

2015

Langue:

english

Fichier:

PDF, 1.33 MB

english, 2015

13

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:

Année:

2016

Langue:

english

Fichier:

PDF, 643 KB

english, 2016

14

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

Année:

2017

Langue:

english

Fichier:

PDF, 173 KB

english, 2017

15

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

Année:

2018

Langue:

english

Fichier:

PDF, 74 KB

english, 2018

16

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

Année:

2018

Langue:

english

Fichier:

PDF, 665 KB

english, 2018

17

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

Année:

2020

Langue:

english

Fichier:

PDF, 2.35 MB

english, 2020

18

MRI of neurodegeneration with brain iron accumulation

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

Journal:

Current Opinion in Neurology

Année:

2020

Fichier:

PDF, 790 KB

2020

19

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

Année:

1998

Langue:

english

Fichier:

PDF, 76 KB

english, 1998

20

W syndrome: Report of three cases and review

Goizet, Cyril, Bonneau, Dominique, Lacombe, Didier

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 215 KB

english, 1999

21

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

Année:

2000

Langue:

english

Fichier:

PDF, 198 KB

english, 2000

22

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

Année:

2006

Langue:

english

Fichier:

PDF, 98 KB

english, 2006

23

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

Année:

2008

Langue:

english

Fichier:

PDF, 140 KB

english, 2008

24

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

Année:

2008

Langue:

english

Fichier:

PDF, 205 KB

english, 2008

25

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:

Année:

2011

Langue:

english

Fichier:

PDF, 589 KB

english, 2011

26

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

Année:

2009

Langue:

english

Fichier:

PDF, 344 KB

english, 2009

27

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

Année:

2011

Langue:

english

Fichier:

PDF, 140 KB

english, 2011

28

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:

Année:

2005

Langue:

english

Fichier:

PDF, 274 KB

english, 2005

29

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

Année:

2001

Langue:

english

Fichier:

PDF, 405 KB

english, 2001

30

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

Année:

2004

Langue:

english

Fichier:

PDF, 118 KB

english, 2004

31

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

Année:

2007

Langue:

english

Fichier:

PDF, 768 KB

english, 2007

32

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

Année:

2003

Langue:

english

Fichier:

PDF, 421 KB

english, 2003

33

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

Année:

2008

Langue:

english

Fichier:

PDF, 283 KB

english, 2008

34

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation

Alice Masurel-Paulet, Eric Haan, Elizabeth M. Thompson, Cyril Goizet, Christel Thauvin-Robinet, Andrew Tai, Declan Kennedy, Greg Smith, Teck Yee Khong, Guilhem Solé, Elodie Guerineau, Isabelle Coupry,

Journal:

European Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 378 KB

english, 2011

35

1.5 Mb microdeletion in 15q24 in a patient with mild OAVS phenotype

Aurore Brun, Dorothée Cailley, Jérôme Toutain, Julie Bouron, Benoit Arveiler, Didier Lacombe, Cyril Goizet, Caroline Rooryck

Journal:

European Journal of Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 928 KB

english, 2012

36

Dysmorphic features in subtelomeric 20p13 deletion excluding JAG1: A recognizable microdeletion phenotype?

Sébastien Moutton, Caroline Rooryck, Jérôme Toutain, Dorothée Cailley, Julie Bouron, Frédéric Villega, Emmanuelle Taupiac, Didier Lacombe, Benoît Arveiler, Cyril Goizet

Journal:

European Journal of Medical Genetics

Année:

2012

Langue:

english

Fichier:

PDF, 675 KB

english, 2012

37

Rheumatologic and neurological events in an elderly patient with tricho-rhino-phalangeal syndrome type I

Marjory Rué, Hermann-Josef Lüdecke, Igor Sibon, Christophe Richez, Laurence Taine, Alexandra Foubert-Samier, Benoit Arveiler, Thierry Schaeverbeke, Didier Lacombe, François Tison, Cyril Goizet

Journal:

European Journal of Medical Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 526 KB

english, 2011

38

Maladie de Fabry : propositions d'un groupe d'experts français concernant le diagnostic, le traitement et le suivi des patients

Olivier Lidove, Soumeya Bekri, Cyril Goizet, Aurélie Khau Van Kien, Sélim Aractingi, Bertrand Knebelmann, Gabriel Choukroun, Michel Tsimaratos, Isabelle Redonnet-Vernhet, Didier Lacombe, Roland Jaussa

Journal:

La Presse Médicale

Année:

2007

Langue:

french

Fichier:

PDF, 727 KB

french, 2007

39

Peripheral nerve lesions associated with a dominant missense mutation, E33D, of the lamin A/C gene

Anne Vital, Xavier Ferrer, Cyril Goizet, Marie Rouanet-Larrivière, Sandrine Eimer, Gisèle Bonne, Claude Vital

Journal:

Neuromuscular Disorders

Année:

2005

Langue:

english

Fichier:

PDF, 359 KB

english, 2005

40

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis

Kathrin Huehne, Christiane Zweier, Klaus Raab, Sylvie Odent, Martine Bonnaure-Mallet, Jean-louis Sixou, Pierre Landrieu, Cyril Goizet, Jean Sarlangue, Matthias Baumann, Thomas Eggermann, Anita Rauch,

Journal:

Neuromuscular Disorders

Année:

2008

Langue:

english

Fichier:

PDF, 468 KB

english, 2008

41

A French family with Charcot–Marie–Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations

Anne Vital, Philippe Latour, Guilhem Sole, Xavier Ferrer, Marie Rouanet, François Tison, Claude Vital, Cyril Goizet

Journal:

Neuromuscular Disorders

Année:

2012

Langue:

english

Fichier:

PDF, 1.03 MB

english, 2012

42

Infantile Alexander Disease: Spectrum of GFAP Mutations and Genotype-Phenotype Correlation

Diana Rodriguez, Fernande Gauthier, Enrico Bertini, Marianna Bugiani, Michael Brenner, Sylvie N'guyen, Cyril Goizet, Antoinette Gelot, Robert Surtees, Jean-Michel Pedespan, Xavier Hernandorena, Monica

Journal:

The American Journal of Human Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 311 KB

english, 2001

43

Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome

Sylvain Hanein, Elodie Martin, Amir Boukhris, Paula Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola Denora, José Fernandez, Nizar Elleuch, Sylvie Forlani, Alexandra Durr,

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 1.00 MB

english, 2008

44

Elaborating the phenotypic spectrum associated with mutations in ARFGEF2: Case study and literature review

Tanyalçin, Ibrahim, Verhelst, Helene, Halley, Dicky J.J., Vanderhasselt, Tim, Villard, Laurent, Goizet, Cyril, Lissens, Willy, Mancini, Grazia M., Jansen, Anna C.

Journal:

European Journal of Paediatric Neurology

Année:

2013

Langue:

english

Fichier:

PDF, 493 KB

english, 2013

45

Head drops are also observed in advanced Huntington disease

Spampinato, Umberto, Debruxelles, Sabrina, Rouanet, Marie, Lafoucrière, Danielle, Bader, Benedikt, Danek, Adrian, Tison, François, Goizet, Cyril

Journal:

Parkinsonism & Related Disorders

Année:

2013

Langue:

english

Fichier:

PDF, 97 KB

english, 2013

46

Zebrafish models of human motor neuron diseases: Advantages and limitations

Babin, Patrick J., Goizet, Cyril, Raldúa, Demetrio

Journal:

Progress in Neurobiology

Année:

2014

Langue:

english

Fichier:

PDF, 1.81 MB

english, 2014

47

Liver disease in infancy caused by oxysterol 7α-hydroxylase deficiency: successful treatment with chenodeoxycholic acid

Dai, Dongling, Mills, Philippa B., Footitt, Emma, Gissen, Paul, McClean, Patricia, Stahlschmidt, Jens, Coupry, Isabelle, Lavie, Julie, Mochel, Fanny, Goizet, Cyril, Mizuochi, Tatsuki, Kimura, Akihiko,

Journal:

Journal of Inherited Metabolic Disease

Année:

2014

Langue:

english

Fichier:

PDF, 3.01 MB

english, 2014

48

Atypical hematologic and renal manifestations in Neurofibromatosis type I: Coincidence or pathophysiological link?

Van-Gils, Julien, Harambat, Jérôme, Jubert, Charlotte, Vidaud, Dominique, Llanas, Brigitte, Perel, Yves, Lacombe, Didier, Goizet, Cyril

Journal:

European Journal of Medical Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 265 KB

english, 2014

49

Severe Charcot-Marie-Tooth disease type 1E caused by a novel p.Phe84Leufs*24 PMP22 point mutation

Vital, Anne, Sole, Guilhem, Casenave, Philippe, Magdelaine, Corinne, Ferrer, Xavier, Vital, Claude, Goizet, Cyril

Journal:

Journal of the Peripheral Nervous System

Année:

2013

Langue:

english

Fichier:

PDF, 580 KB

english, 2013

50

Adaptative Capacity of Mitochondrial Biogenesis and of Mitochondrial Dynamics in Response to Pathogenic Respiratory Chain Dysfunction

Benard, Giovanni, Trian, Thomas, Bellance, Nadège, Berger, Patrick, Lavie, Julie, Espil-Taris, Caroline, Rocher, Christophe, Eimer-Bouillot, Sandrine, Goizet, Cyril, Nouette-Gaulain, Karine, Letellier

Journal:

Antioxidants & Redox Signaling

Année:

2013

Langue:

english

Fichier:

PDF, 1.12 MB

english, 2013