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1

De novo LMNA mutations cause a new form of congenital muscular dystrophy

Susana Quijano-Roy, Blaise Mbieleu, Carsten G. Bönnemann, Pierre-Yves Jeannet, Jaume Colomer, Nigel F. Clarke, Jean-Marie Cuisset, Helen Roper, Linda De Meirleir, Adele D'Amico, Rabah Ben Yaou, Andrés

Journal:

Annals of Neurology

Year:

2008

Language:

english

File:

PDF, 1.01 MB

english, 2008

2

Cardioembolic stroke prompting diagnosis of LMNA-associated Emery–Dreifuss muscular dystrophy

Luis Redondo-Vergé, Rabah Ben Yaou, María Fernández-Recio, Luminita Dinca, Pascale Richard, Gisèle Bonne

Journal:

Year:

2011

Language:

english

File:

PDF, 136 KB

english, 2011

3

Assessment of the structural and functional impact of in-frame mutations of theDMDgene, using the tools included in the eDystrophin online database

Aurélie Nicolas, Céline Lucchetti-Miganeh, Rabah Ben Yaou, Jean-Claude Kaplan, Jamel Chelly, France Leturcq, Frédérique Barloy-Hubler, Elisabeth Le Rumeur

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 1.26 MB

english, 2012

4

Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing

Cerino, Mathieu, Gorokhova, Svetlana, Laforet, Pascal, Ben Yaou, Rabah, Salort-Campana, Emmanuelle, Pouget, Jean, Attarian, Shahram, Eymard, Bruno, Deleuze, Jean-François, Boland, Anne, Behin, Anthony

Journal:

Year:

2017

Language:

english

File:

PDF, 316 KB

english, 2017

5

Update of Emerinopathies’ clinical-genetic spectrum: the French network experience

France Leturcq,Rabah Ben Yaou

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 274 KB

english, 2015

6

A common French-Italian laminopathy registry – update & future prospects

Gisèle Bonne,Rabah Ben Yaou

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 228 KB

english, 2015

7

A novel INPP5K mutation in a sibship from the Reunion Island

Nelson, I., Jacquemont, M., Urtizberea, A., Renouil, M., Boland, A., Masson, C., Ben Yaou, R., Bonne, G.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 255 KB

english, 2017

8

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation

Hans Knoblauch, Christian Geier, Stephanie Adams, Birgit Budde, André Rudolph, Ute Zacharias, Jeannette Schulz-Menger, Andreas Spuler, Rabah Ben Yaou, Peter Nürnberg, Thomas Voit, Gisele Bonne, Simone

Journal:

Annals of Neurology

Year:

2010

Language:

english

File:

PDF, 676 KB

english, 2010

9

Genotype–phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD–DMD database: a model of nationwide knowledgebase

Sylvie Tuffery-Giraud, Christophe Béroud, France Leturcq, Rabah Ben Yaou, Dalil Hamroun, Laurence Michel-Calemard, Marie-Pierre Moizard, Rafaëlle Bernard, Mireille Cossée, Pierre Boisseau, Martine Bla

Journal:

Year:

2009

Language:

english

File:

PDF, 389 KB

english, 2009

10

Meta-analysis of clinical characteristics of 299 carriers ofLMNAgene mutations: do lamin A/C mutations portend a high risk of sudden death?

Jop H. van Berlo, Willem G. de Voogt, Anneke J. van der Kooi, J. Peter van Tintelen, Gisèle Bonne, Rabah Ben Yaou, Denis Duboc, Tom Rossenbacker, Hein Heidbüchel, Marianne de Visser, Harry J. G. M. Cr

Journal:

Journal of Molecular Medicine

Year:

2005

Language:

english

File:

PDF, 242 KB

english, 2005

11

Modifier locus of the skeletal muscle involvement in Emery–Dreifuss muscular dystrophy

B. Granger, L. Gueneau, V. Drouin-Garraud, V. Pedergnana, F. Gagnon, R. Ben Yaou, S. Tezenas du Montcel, G. Bonne

Journal:

Year:

2011

Language:

english

File:

PDF, 360 KB

english, 2011

12

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation

Massart, Catherine, De Sandre-Giovannoli, Annachiara, Cadiñanos, Juan, Mamchaoui, Kamel, Butler-Browne, Gillian, Estournet, Brigitte, Yaou, Rabah Ben, Navarro, Claire, Quijano-Roy, Susana, Bertrand, A

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 988 KB

english, 2011

13

G.P.4.09 Looking for a third gene causing Emery-Dreifuss muscular dystrophy: Lessons and perspectives

L. Gueneau, R. Ben Yaou, L. Demay, S. Llense, N. Deburgrave, F. Leturcq, P. Richard, G. Bonne

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 59 KB

english, 2006

14

P.I.2 Laminopathies affecting the striated muscle

R. Ben Yaou, V. Decostre, L. Gueneau, S. Stora, L. Renou, K. Chikhaoui, L. Demay, P. Richard, G. Bonne

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

15

G.P.4.06 A new intermediate phenotype in a Swiss family with mutation in the LMNA gene

M. Dunand, G. Gremion, P.Y. Jeannet, X. Jeanrenaud, R. Ben Yaou, G. Bonne, T. Kuntzer

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 58 KB

english, 2006

16

G.P.4.04 Lamin A/C gene mutation as a cause of dropped head syndrome. Extending the striated muscle laminopathies

A. Nascimento, J. Colomer, J. Demay, R. Ben Yaou, P. Richard, G. Bonne

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 44 KB

english, 2006

17

G.P.5.02 LMNA is responsible for a recognisable form of congenital muscular dystrophy associated with selective axial muscle weakness and progressive course (L-CMD)

S. Quijano-Roy, B. Mbieleu, C. Bönnemann, P. Jeannet, J. Colomer, N. Clarke, J. Cuisset, H. Roper, L. De Meirleir, A. D’Amico, R. Ben Yaou, A. Barois, L. Demay, N. Romero, C. Sewry, E. Bertini, A. Fer

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 61 KB

english, 2007

18

G.P.9.10 Clinical development of the French UMD–DMD database

V. Humbertclaude, S. Tuffery-Giraud, R. Ben Yaou, D. Hamroun, P. Khau Van Kien, F. Leturcq, J. Chelly, M. Claustres, C. Béroud

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 63 KB

english, 2007

19

Differentiating Emery-Dreifuss muscular dystrophy and collagen VI-related myopathies using a specific CT scanner pattern

N. Deconinck, E. Dion, R. Ben Yaou, A. Ferreiro, B. Eymard, L. Briñas, C. Payan, T. Voit, P. Guicheney, P. Richard, V. Allamand, G. Bonne, T. Stojkovic

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 699 KB

english, 2010

20

P2.18 A novel missense FLNC mutation causes arrhythmia and late onset myofibrillar myopathy with particular histopathology features

D. Avila-Smirnow, A. Béhin, L. Gueneau, K. Claeys, M. Beuvin, B. Goudeau, P. Richard, R. Ben Yaou, N.B. Romero, S. Mathis, T. Voit, B. Eymard, R. Gil, M. Fardeau, G. Bonne

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 50 KB

english, 2010

21

P2.43 Revisiting X-linked Emery-Dreifuss muscular dystrophy. New insights into an old story

R. Ben Yaou, C. Beugnet, K. Chikhaoui, D. Hamroun, J.C. Kaplan, C. Béroud, G. Bonne, F. Leturcq, F. French EDMD network

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

22

P2.41 From Emery-Dreifuss muscular dystrophy to striated muscle laminopathies. A 12 years retrospective

R. Ben Yaou, L. Demay, K. Chikhaoui, D. Hamroun, C. Béroud, P. Richard, G. Bonne, F. French EDMD network

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 58 KB

english, 2011

23

108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13–15 September 2002, Naarden, The Netherlands

Gisèle Bonne, Rabah Ben Yaou, Christophe Béroud, Giuseppe Boriani, Sue Brown, Marianne de Visser, Denis Duboc, Juliet Ellis, Irena Hausmanowa-Petrusewicz, Giovanna Lattanzi, Luciano Merlini, Glenn Mor

Journal:

Neuromuscular Disorders

Year:

2003

Language:

english

File:

PDF, 110 KB

english, 2003

24

G.P.75 Variable phenotype of del45–55 Becker patients correlated to nNOSμ mislocalization and RYR1 hypernitrosylation

Gentil, C., Leturcq, F., Ben Yaou, R., Kaplan, J.C., Laforet, P., Pénisson-Besnier, I., Espil-Taris, C., Voit, T., Garcia, L., Pietri-Rouxel, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 51 KB

english, 2012

25

D.P.2 Next generation sequencing after selected DNA capture as a tool for molecular diagnosis of neuromuscular disorders

Nelson, I., Allamand, V., Ben Yaou, R., Baulande, S., Criqui, A., De Cid Ibeas, R., Richard, I., Richard, P., Voit, T., Lévy, N., Bonne, G.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 62 KB

english, 2012

26

Variable phenotype of del45-55 Becker patients correlated with nNOS mislocalization and RYR1 hypernitrosylation

Gentil, C., Leturcq, F., Ben Yaou, R., Kaplan, J.-C., Laforet, P., Penisson-Besnier, I., Espil-Taris, C., Voit, T., Garcia, L., Pietri-Rouxel, F.

Journal:

Human Molecular Genetics

Year:

2012

Language:

english

File:

PDF, 829 KB

english, 2012

27

La dystrophie musculaire des ceintures autosomique dominante associée à des troubles de la conduction cardiaque (LGMD1B). Description de 8 nouvelles familles avec mutations du gène LMNA

Ben Yaou, R., Bécane, H.-M., Demay, L., Laforet, P., Hannequin, D., Bohu, P.-A., Drouin-Garraud, V., Ferrer, X., Mussini, J.-M., Ollagnon, E., Petiot, P., Penisson-Besnier, I., Streichenberger, N., To

Journal:

Revue Neurologique

Year:

2005

File:

PDF, 320 KB

2005

28

Muscle diseases with prominent joint contractures: Main entities and diagnostic strategy

Eymard, B., Ferreiro, A., Ben Yaou, R., Stojkovic, T.

Journal:

Revue Neurologique

Year:

2013

File:

PDF, 1.69 MB

2013

29

P.5.16 Predominant right ventricular involvement in patients with laminopathies

Ben Yaou, R., Wahbi, K., Meune, C., Fressart, V., Feldman, L., Behin, A., Pénisson-Besnier, I., Urtizberea, J.A., Eymard, B., Richard, P., Bonne, G., Duboc, D.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 60 KB

english, 2013

30

Errance diagnostique dans les myopathies mitochondriales : étude de 12 patients thymectomisés

Ben Yaou, R., Laforêt, P., Bécane, H.M., Jardel, C., Sternberg, D., Lombès, A., Eymard, B.

Journal:

Revue Neurologique

Year:

2006

File:

PDF, 264 KB

2006

31

AB26-1

Anselme, Frederic, Meune, Cristophe, Van Berlo, Jop, Bonne, Gisele, Savouré, Arnaud, Yaou, Rabah Ben, Van Tintelen, J. Peter, Bécane, Henri-Marc, Van Den Berg, Maarten P., Laforet, Pascal

Journal:

Year:

2006

Language:

english

File:

PDF, 69 KB

english, 2006

32

M - 8 Développements cliniques de la future banque de données nationale des mutations du gène DMD (UMD-DMD)

Humbertclaude, V., Tuffery-Giraud, S., Pages, M., Jonquet, O., Ben Yaou, R., Hamroun, D., Khau Van Kien, P., Claustres, M., Beroud, C.

Journal:

Revue Neurologique

Year:

2007

Language:

french

File:

PDF, 58 KB

french, 2007

33

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

34

G.P.281

Nectoux, J., de Cid, R., Baulande, S., Leturcq, F., Urtizberea, J.A., Penisson-Besnier, I., Nadaj Pakleza, A., Roudaut, C., Criqui, A., Orhant, L., Peyroulan, D., Yaou, R. Ben, Nelson, I., Arné-Bes, M

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 59 KB

english, 2014

35

G.P.181

Ben Yaou, R., Nectoux, J.U.L., Iserin, F.R.A., Ould Amar, S.A.L., Romero, N.O.R., Varnous, S.H.A., Leturcq, F.R.A., Laforet, P.A.S.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

36

G.P.142

Ben Yaou, R., Gerard, M., Chami, K., Sehier, A., Belin, A., Labombarda, F., Richard, P., Bonne, G., Leturcq, F., Chapon, F.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 60 KB

english, 2014

37

G.P.150

Ben Yaou, R.A.B., Stojkovic, T.A.N., Laforet, P.A.S., Becdelievre, A.L.I. De, Becane, H.E.N., Wahbi, K.A.R., Navarro, C.A.R., Fardeau, M.I.C., Romero, N.O.R., Richard, P.A.S., Duboc, D.E.N., Bonne, G.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 47 KB

english, 2014

38

Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors

Bertrand, A. T., Ziaei, S., Ehret, C., Duchemin, H., Mamchaoui, K., Bigot, A., Mayer, M., Quijano-Roy, S., Desguerre, I., Laine, J., Ben Yaou, R., Bonne, G., Coirault, C.

Journal:

Journal of Cell Science

Year:

2014

Language:

english

File:

PDF, 7.27 MB

english, 2014

39

Becker muscular dystrophy severity is linked to the structure of dystrophin

Nicolas, A., Raguenes-Nicol, C., Ben Yaou, R., Ameziane-Le Hir, S., Cheron, A., Vie, V., Claustres, M., Leturcq, F., Delalande, O., Hubert, J.-F., Tuffery-Giraud, S., Giudice, E., Le Rumeur, E.

Journal:

Human Molecular Genetics

Year:

2015

Language:

english

File:

PDF, 767 KB

english, 2015

40

A non-ischemic forearm exercise test for the screening of patients with exercise intolerance

Hogrel, J.-Y., Laforet, P., Ben Yaou, R., Chevrot, M., Eymard, B., Lombes, A.

Journal:

Year:

2001

Language:

english

File:

PDF, 891 KB

english, 2001

41

Cardiac and Pulmonary Investigations in Bethlem Myopathy

van der Kooi, Anneke J., de Voogt, Willem G., Bertini, Enrico, Merlini, Luciano, Talim, F. Beril, Ben Yaou, Rabah, Urtziberea, Andoni, de Visser, Marianne

Journal:

Archives of Neurology

Year:

2006

Language:

english

File:

PDF, 85 KB

english, 2006

42

A new titinopathy: Childhood-juvenile onset Emery-Dreifuss-like phenotype without cardiomyopathy

De Cid, R., Ben Yaou, R., Roudaut, C., Charton, K., Baulande, S., Leturcq, F., Romero, N. B., Malfatti, E., Beuvin, M., Vihola, A., Criqui, A., Nelson, I., Nectoux, J., Ben Aim, L., Caloustian, C., Ol

Journal:

Year:

2015

Language:

english

File:

PDF, 1.34 MB

english, 2015

43

Exome sequencing identifies novel truncating TTN mutations with Emery–Dreifuss like muscular dystrophy and secondary calpain3 deficiency without cardiac abnormality

de Cid, R., Ben Yaou, R., Roudaut, C., Baulande, S., Leturcq, F., Bonne, G., Udd, B., Romero, N., Charton, K., Malfatti, E., Nelson, I., Eymard, B., Richard, I.

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 207 KB

english, 2015

44

0460: Right heart involvement in patients with laminopathies

Wahbi, Karim, Viel, Guillaume Durand, Yaou, Rabah Ben, Behin, Anthony, Bécane, Henri-Marc, Laforet, Pascal, Stojkovic, Tanya, Eymard, Bruno, Bonne, Gisèle, Duboc, Denis

Journal:

Archives of Cardiovascular Diseases Supplements

Year:

2016

Language:

english

File:

PDF, 48 KB

english, 2016

45

Pediatric laminopathies: Whole-body MRI fingerprint and comparison with SEPN1-myopathy

Gómez-Andrés, David, Dabaj, Ivana, Mompoint, Dominique, Hankiewicz, Karolina, Azzi, Viviane, Ioos, Christine, Romero, Norma B, Ben Yaou, Rabah, Bergounioux, Jean, Bonne, Gisèle, Richard, Pascale, Esto

Journal:

Year:

2015

Language:

english

File:

PDF, 788 KB

english, 2015

46

Clinical features and therapeutic strategies for managing the striated muscle laminopathies

Macquart, Coline, Ben Yaou, Rabah, Muchir, Antoine, Wahbi, Karim, Bonne, Gisèle

Journal:

Expert Opinion on Orphan Drugs

Year:

2016

Language:

english

File:

PDF, 1.09 MB

english, 2016

47

Clinical and genetic heterogeneity in laminopathies

Bertrand, Anne T., Chikhaoui, Khadija, Yaou, Rabah Ben, Bonne, Gisèle

Journal:

Biochemical Society Transactions

Year:

2011

Language:

english

File:

PDF, 172 KB

english, 2011

48

Cardiac arrhythmia and late-onset muscle weakness caused by a myofibrillar myopathy with unusual histopathological features due to a novel missense mutation in FLNC

Avila-Smirnow, D., Gueneau, L., Batonnet-Pichon, S., Delort, F., Bécane, H.-M., Claeys, K., Beuvin, M., Goudeau, B., Jais, J.-P., Nelson, I., Richard, P., Ben Yaou, R., Romero, N.B., Wahbi, K., Mathis

Journal:

Revue Neurologique

Year:

2016

Language:

english

File:

PDF, 3.06 MB

english, 2016

49

Non Random Distribution of DMD Deletion Breakpoints and Implication of Double Strand Breaks Repair and Replication Error Repair Mechanisms

Marey, Isabelle, Ben Yaou, Rabah, Deburgrave, Nathalie, Vasson, Aurélie, Nectoux, Juliette, Leturcq, France, Eymard, Bruno, Laforet, Pascal, Behin, Anthony, Stojkovic, Tanya, Mayer, Michèle, Tiffreau,

Journal:

Journal of Neuromuscular Diseases

Year:

2016

Language:

english

File:

PDF, 931 KB

english, 2016

50

Activation of the cholinergic anti-inflammatory system by nicotine attenuates arthritis via suppression of macrophage migration

Li, Sha, Zhou, Bin, Liu, Ben, Zhou, Yaou, Zhang, Huali, Li, Tong, Zuo, Xiaoxia

Journal:

Molecular Medicine Reports

Year:

2016

Language:

english

File:

PDF, 1.63 MB

english, 2016