Gartioux, C.: search on Z-Library

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1

Compound heterozygous mutations of the TNXB gene cause primary myopathy

Pénisson-Besnier, Isabelle, Allamand, Valérie, Beurrier, Philippe, Martin, Ludovic, Schalkwijk, Joost, van Vlijmen-Willems, Ivonne, Gartioux, Corine, Malfait, Fransiska, Syx, Delfien, Macchi, Laurent,

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 2.14 MB

english, 2013

2

Bethlem myopathy: long-term follow-up identifies COL6 mutations predicting severe clinical evolution

Deconinck, N., Richard, P., Allamand, V., Behin, A., Laforet, P., Ferreiro, A., de Becdelievre, A., Ledeuil, C., Gartioux, C., Nelson, I., Carlier, R. Y., Carlier, P., Wahbi, K., Romero, N., Zabot, M.

Journal:

Journal of Neurology Neurosurgery & Psychiatry

Year:

2014

Language:

english

File:

PDF, 4.18 MB

english, 2014

3

COL6A1 genomic deletions in Bethlem myopathy and Ullrich muscular dystrophy

Guglielmina Pepe, Laura Lucarini, Rui-Zhu Zhang, Te-Cheng Pan, Betti Giusti, Susana Quijano-Roy, Corine Gartioux, Katharine M. D. Bushby, Pascale Guicheney, Mon-Li Chu

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 307 KB

english, 2006

4

M.P.5.05 Whole-body muscle MRI in collagen type VI-related myopathies (Ullrich CMD and Bethlem myopathy)

S. Quijano-Roy, D. Avila-Smirnow, M. Zayani, S. Chaabane, M. Hamida, B. Estournet, L. Viollet, D. Fischer, P. Cuvelier, A. Ferreiro, N. Dehlinger, N.B. Romero, L. Briñas, C. Gartioux, P. Guicheney, P.

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 42 KB

english, 2009

5

G.P.18 Muscle pathology and dysfunction in a novel mouse model of COLVI-myopathy

Solares Perez, A., Gartioux, C., Beuvin, M., Thao, M. Viou, Laine, J., Medja, F., Ferry, A., Romero, N.B., Bonne, G., Allamand, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 60 KB

english, 2012

6

Collagen VI deficiency: The heart of the matter

Saunier, M., Gartioux, C., Beuvin, M., Mougenot, N., Bonne, G., Allamand, V.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 242 KB

english, 2017

7

P.P.1 03 A clinical, morphological and genetic study of congenital muscular dystrophies in Algeria

S. Makri, N. Terki, S. Belarbi, S. Assami, S. Maugenre, C. Gartioux, V. Allamand, P. Richard, N.B. Romero, M. Ait Kaci-Ahmed, D. Grid, P. Guicheney, M. Tazir

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 61 KB

english, 2006

8

P1.10 A survey of collagen VI myopathies at Hôpital Pitié-Salpêtrière

N. Deconinck, A. Ferreiro, B. Eymard, A. Behin, P. Laforêt, C. Ledeuil, C. Gartioux, P. Richard, V. Allamand, T. Stojkovic

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 39 KB

english, 2010

9

G.P.19 Collagen VI genes in zebrafish skeletal muscle: Implications for collagen VI-myopathies

Ramanoudjame, L., Rocancourt, C., Lainé, J., Lyphout, L., Gartioux, C., Schwartz, M.E., Cousin, X., Allamand, V.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

10

P.P.7 04 A homozygous COL6A1 splice site mutation in siblings with Ullrich congenital muscular dystrophy

S. Makri, V. Allamand, P. Richard, C. Gartioux, N. Terki, S. Maugenre, M. Ait-Kaci, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 46 KB

english, 2006

11

EM.P.4.10 Severe hand contractures and abnormal collagen VI secretion not due to mutations in the COL6 genes: A novel entity?

O. Dubourg, B. Eymard, C. Gartioux, C.G. Bonnemann, C. Job-Deslandre, V. Allamand, P. Richard, A. Ferreiro

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 54 KB

english, 2009

12

G.P.21 Proteomic analysis of cultured skin fibroblasts from UCMD patients reveals the involvement of two new cellular pathways

Deconinck, N., Mussche, S., De Paepe, B., Gartioux, C., Allamand, V., Richard, P., Smet, J., Devreese, B., Coster, R. Van

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 61 KB

english, 2012

13

G.P.215

Deconinck, N., De Paepe, B., Symoens, S., Vanlander, A., Gartioux, C., Allamand, V., Smet, J., Devreese, B., Van Coster, R.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

14

Bethlem myopathy phenotypes and follow up: Description of 8 patients in the mildest end of the spectrum

Cruz, S., Figueroa-Bonaparte, S., Gallardo, E., de Becdelièvre, A., Gartioux, C., Allamand, V., Piñol, P., Rodríguez-García, M., Jiménez-Mallebrera, C., Llauger, J., González-Rodríguez, L., Cortés-Vic

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 207 KB

english, 2016

15

OMICs AND AI APPROACHES FOR MUSCLE DISEASES

Cohen, E., Nelson, I., Gartioux, C., Beuvin, M., Mezdari, Z., Roth, F., Yaou, R. Ben, Quijano-Roy, S., Stojkovic, T., Carlier, R., Bonne, G., Allamand, V.

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 63 KB

2020

16

C.P.2.03 Predictive factors of severity and management of respiratory and orthopaedic complications in 16 Ullrich CMD patients

S. Quijano-Roy, V. Allamand, N. Riahi, C. Gartioux, L. Briñas, D. Leclair-Richard, R. Zeller, C. Ledeuil, M. Commare, L. Viollet, C. Bönnemann, M. Mayer, D. Chaigne, N. Essid, F. Renault, A. Barois, A

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

17

Dominant and recessive COL6A1 mutations in Ullrich scleroatonic muscular dystrophy

Betti Giusti, Laura Lucarini, Valentina Pietroni, Simona Lucioli, Brunella Bandinelli, Patrizia Sabatelli, Stefano Squarzoni, Stefania Petrini, Corine Gartioux, Beril Talim, Filip Roelens, Luciano Mer

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 937 KB

english, 2005

18

G.P.23 Phenotypic variability and survey in a series of Bethlem myopathy

Deconinck, N., Richard, P., Allamand, V., Behin, A., Lafôret, P., Ferreiro, A., Ledeuil, C., Gartioux, C., Carlier, R.Y., Carlier, P., Romero, N.B., Eymard, B., Stojkovic, T.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 49 KB

english, 2012

19

Drug-induced readthrough of premature stop codons leads to the stabilization of laminin α2 chain mRNA in CMD myotubes

Valérie Allamand, Laure Bidou, Masayuki Arakawa, Célia Floquet, Masataka Shiozuka, Marion Paturneau-Jouas, Corine Gartioux, Gillian S. Butler-Browne, Vincent Mouly, Jean-Pierre Rousset, Ryoichi Matsud

Journal:

The Journal of Gene Medicine

Year:

2008

Language:

english

File:

PDF, 354 KB

english, 2008

20

Ex vivo correction of selenoprotein N deficiency in rigid spine muscular dystrophy caused by a mutation in the selenocysteine codon

Rederstorff, M., Allamand, V., Guicheney, P., Gartioux, C., Richard, P., Chaigne, D., Krol, A., Lescure, A.

Journal:

Nucleic Acids Research

Year:

2007

Language:

english

File:

PDF, 1.38 MB

english, 2007

21

C.P.2.06 Spectrum of COL6A1 mutations in patients with Ullrich congenital muscular dystrophy

P. Richard, C. Ledeuil, C. Gartioux, L. Torrieri, L. Briñas, A. Ferreiro, A. Toutain, S. Makri, E. Ollagnon, B. Eymard, S. Quijano-Roy, B. Estournet, P. Guicheney, V. Allamand

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 49 KB

english, 2007

22

Two novel COLVI long chains in zebrafish that are essential for muscle development

Ramanoudjame, Laetitia, Rocancourt, Claire, Lainé, Jeanne, Klein, Arnaud, Joassard, Lucette, Gartioux, Corine, Fleury, Marjory, Lyphout, Laura, Kabashi, Edor, Ciura, Sorana, Cousin, Xavier, Allamand,

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 1.73 MB

english, 2015

23

2FC2.4 A survey of Collagen VI myopathies at Hôpital Pitié-Salpêtrière: the natural history and genetic description of 26 patients

N. Deconinck, A. Ferreiro, C. Ledeuil, C. Gartioux, P. Richard, V. Allamand, T. Stojkovic

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 52 KB

english, 2011

24

EM.P.4.02 Comprehensive clinical, cellular and molecular assessment of 64 French families with COL6-related muscle disorders: Clues for genotype/phenotype correlations

P. Richard, L. Briñas, S. Quijano-Roy, C. Ledeuil, A. Ferreiro, C. Gartioux, I. Pénisson-Besnier, A. Béhin, P. Laforet, M. Mayer, L. Viollet, P. Guicheney, B. Eymard, B. Estournet, T. Stojkovic, V. Al

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 52 KB

english, 2009

25

Vacuoliting Megalencephalic Leukoencephalopathy with Subcortical Cysts, Mapped to Chromosome 22qtel

Meral Topçu, Corine Gartioux, Florence Ribierre, Cengiz Yalçinkaya, Erem Tokus, Nese Öztekin, Jacques S. Beckmann, Meral Ozguc, Eric Seboun

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 835 KB

english, 2000

26

Collagen VI deficiency: the heart of the matter

Saunier, M., Gartioux, C., Beuvin, M., Mougenot, N., Bonne, G., Allamand, V.

Journal:

Archives of Cardiovascular Diseases Supplements

Year:

2017

Language:

english

File:

PDF, 36 KB

english, 2017

27

A single homozygous point mutation in a 3′untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathy

Allamand, Valérie, Richard, Pascale, Lescure, Alain, Ledeuil, Céline, Desjardin, Delphine, Petit, Nathalie, Gartioux, Corine, Ferreiro, Ana, Krol, Alain, Pellegrini, Nadine, Urtizberea, J Andoni, Guic

Journal:

Year:

2006

Language:

english

File:

PDF, 130 KB

english, 2006

28

G.P.1.03 Important variability in clinical severity in a family with Col VI-related myopathy: Potential implication of digenism?

F. Chapon, C. Gartioux, C. Ledeuil, L. Demay, L. Brinas, D. Herlicoviez, S. Allouche, A. Ferreiro, F. Leturcq, P. Richard, V. Allamand, G. Bonne

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 48 KB

english, 2008

29

Selenoprotein N is dynamically expressed during mouse development and detected early in muscle precursors

Perrine Castets, Svetlana Maugenre, Corine Gartioux, Mathieu Rederstorff, Alain Krol, Alain Lescure, Shahragim Tajbakhsh, Valérie Allamand, Pascale Guicheney

Journal:

BMC Developmental Biology

Year:

2009

Language:

english

File:

PDF, 1.51 MB

english, 2009

30

C.P.2.16 Novel recessive and dominant mutations in collagen VI causing Ullrich congenital muscular dystrophy and correlation with mRNA degradation

L. Briñas, C. Gartioux, C. Ledeuil, S. Quijano-Roy, S. Makri, L. Merlini, H. Topaloglu, F. Roelens, V. Hovers, P. Jeannet, B. Estournet, P. Richard, P. Guicheney, V. Allamand

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 65 KB

english, 2007

31

Congenital muscular dystrophy phenotype with neuromuscular spindles excess in a 5-year-old girl caused by HRAS mutation

Bolocan, Anamaria, Quijano-Roy, Susana, Seferian, Andreea M., Baumann, Clarisse, Allamand, Valérie, Richard, Pascale, Estournet, Brigitte, Carlier, Robert, Cavé, Hélène, Gartioux, Corine, Blin, Nathal

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 1.51 MB

english, 2014

32

C.O.3 Endoplasmic reticulum retention of COL6 chains in Ullrich congenital muscular dystrophy

V. Allamand, C. Gartioux, E. Lacène, J. Lainé, C. Ledeuil, S. Quijano-Roy, S. Makri, L. Viollet, P. Jeannet, D. Herlicoviez, M. Penniello-Valette, P. Richard, B. Estournet, N. Romero, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

33

Bethlem Myopathy Phenotypes and Follow Up: Description of 8 Patients at the Mildest End of the Spectrum

Cruz, Simao, Figueroa-Bonaparte, Sebastian, Gallardo, Eduard, de Becdelièvre, Alix, Gartioux, Corine, Allamand, Valérie, Piñol, Patricia, Garcia, Maria Angels Rodriguez, Jiménez-Mallebriera, Cecilia,

Journal:

Journal of Neuromuscular Diseases

Year:

2016

Language:

english

File:

PDF, 1.66 MB

english, 2016

34

Early onset collagen VI myopathies: Genetic and clinical correlations

Laura Briñas, Pascale Richard, Susana Quijano-Roy, Corine Gartioux, Céline Ledeuil, Emmanuelle Lacène, Samira Makri, Ana Ferreiro, Svetlana Maugenre, Haluk Topaloglu, Göknur Haliloglu, Isabelle Péniss

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 337 KB

english, 2010

35

P.1.15 Clinical heterogeneity of myopathy related to partial merosin deficiency

Stojkovic, T., Nelson, I., Nectoux, J., Cossee, M., Allamand, V., Gartioux, C., Yaou, R. Ben, Ferreiro, A., Richard, P., Carlier, P.Y., Carlier, P., Dupont, S., Lehéricy, S., Eymard, B., Bonne, G.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 53 KB

english, 2013

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