R. Ben Yaou: search on Z-Library

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1

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

2

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

miR-708-5p and miR-34c-5p are involved in nNOS regulation in dystrophic context

Guilbaud, Marine, Gentil, Christel, Peccate, Cécile, Gargaun, Elena, Holtzmann, Isabelle, Gruszczynski, Carole, Falcone, Sestina, Mamchaoui, Kamel, Ben Yaou, Rabah, Leturcq, France, Jeanson-Leh, Laure

Journal:

Skeletal Muscle

Year:

2018

Language:

english

File:

PDF, 1.85 MB

english, 2018

15

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

16

Laminopathies : un seul gène, de nombreuses pathologies

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

Journal:

Biologie Aujourd hui

Year:

2011

File:

PDF, 482 KB

2011

17

5164New risk prediction score for life-threatening ventricular tachyarrhythmias in laminopathies

Wahbi, K, Ben Yaou, R, Gandjbakhch, E, Anselme, F, Gossios, T, Lakdawala, N, Stalens, C, Sacher, F, Babuty, D, Charron, P, Vigouroux, C, Bonne, G, Kumar, S, Elliott, P, Duboc, D

Journal:

European Heart Journal

Year:

2019

Language:

english

File:

PDF, 92 KB

english, 2019

18

Clinical Phenotypes of DMD Exon 51 Skip Equivalent Deletions: A Systematic Review

Waldrop, Megan A., Ben Yaou, Rabah, Lucas, Karin K., Martin, Ann S., OâRourke, Erin, Ferlini, Alessandra, Muntoni, Francesco, Leturcq, France, Tuffery-Giraud, Sylvie, Weiss, Robert B., Flanigan, Kev

Journal:

Journal of Neuromuscular Diseases

Year:

2020

File:

PDF, 178 KB

2020

19

Very low residual dystrophin quantity is associated with milder dystrophinopathy

Feraudy, Yvan, Yaou, Rabah Ben, Wahbi, Karim, Stalens, Caroline, Stantzou, Amalia, Laugel, Vincent, Desguerre, Isabelle, Barnerias, Christine, Behin, Anthony, Bellance, RÃ©mi, Berquin, Patrick, Boyer,

Journal:

Annals of Neurology

Year:

2020

File:

PDF, 4.61 MB

2020

20

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

21

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

22

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

23

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

24

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K., Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassa

Journal:

Year:

2019

Language:

english

File:

PDF, 1.47 MB

english, 2019

25

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

26

METABOLIC MYOPATHIES II

Hogrel, JR., Chéraud, C., Ledoux, I., Ollivier, G., Yaou, R. Ben, Leturcq, F., Behin, A., Stojkovic, T., Eymard, B., Laforet, P.

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 60 KB

english, 2018

27

Left bundle branch block in Duchenne muscular dystrophy: Prevalence, genetic relationship and prognosis

Fayssoil, Abdallah, Ben Yaou, Rabah, Ogna, Adam, Chaffaut, Cendrine, Leturcq, France, Nardi, Olivier, Wahbi, Karim, Duboc, Denis, Lofaso, Frederic, Prigent, Helene, Clair, Bernard, Crenn, Pascal, Nico

Journal:

Year:

2018

Language:

english

File:

PDF, 1.88 MB

english, 2018

28

Cardiometabolic assessment of lamin A/C gene mutation carriers: A phenotype–genotype correlation

Kwapich, M., Lacroix, D., Espiard, S., Ninni, S., Brigadeau, F., Kouakam, C., Degroote, P., Laurent, J.M., Tiffreau, V., Jannin, A., Humbert, L., Ben Hamou, A., Tard, C., Ben Yaou, R., Lamblin, N., Kl

Journal:

Diabetes & Metabolism

Year:

2018

Language:

english

File:

PDF, 733 KB

english, 2018

29

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

30

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

31

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

32

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

33

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

34

OPALE: A patient registry for laminopathies and emerinopathies in France

Yaou, R. Ben, Vigouroux, C., Quijano-Roy, S., Campanna-Salort, E., Cintas, P., Cuisset, J., Juntas-Morales, R., Labombarda, F., Nadaj-Pakleza, A., Pereon, Y., Sole, G., Vantyghem, M., Richard, P., Let

Journal:

Neuromuscular Disorders

Year:

2016

Language:

english

File:

PDF, 194 KB

english, 2016

35

First results from the international LMNA -related congenital and childhood onset muscular dystrophy retrospective natural history study

Ben Yaou, R., Dabaj, I., Yun, P., Norato, G., Xiong, H., Nascimento, A., Maggi, L., Sarkozy, A., Monges, S., Bertoli, M., Komaki, H., Mercuri, E., Zanoteli, E., Bushby, K., Muntoni, F., Rutkowski, A.,

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 257 KB

english, 2017

36

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency

Ben Yaou, Rabah, Hubert, Aurélie, Nelson, Isabelle, Dahlqvist, Julia R., Gaist, David, Streichenberger, Nathalie, Beuvin, Maud, Krahn, Martin, Petiot, Philippe, Parisot, Frédéric, Michel, Fabrice, Mal

Journal:

Neurology: Genetics

Year:

2017

File:

PDF, 622 KB

2017

37

Corticosteroid treatment in early-onset lamin A/C related muscular dystrophies

Dabaj, I., Ben Yaou, R., Bönnemann, C., Nascimento, A., Rutkowski, A., Erazo Torricelli, R., Muntoni, F., Lagrue, E., Dowling, J., Bushby, K., Casteglioni, C., Kleinsteuber, K., Lorenzo, M., Ishiyama,

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 242 KB

english, 2017

38

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Nelson, I., De Ridder, W., Asselbergh, B., De Paepe, B., Beuvin, M., Ben Yaou, R., Boland, A., Deleuze, J., Maisonobe, T., Eymard, B., De Bleecker, J., Symoens, S., Schindler, R., Brand, T., Töpf, A.,

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 98 KB

english, 2018

39

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

40

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

41

Clinical profiles and prognosis of acute heart failure in adult patients with dystrophinopathies on home mechanical ventilation

Fayssoil, Abdallah, Yaou, Rabah Ben, Ogna, Adam, Leturcq, France, Nardi, Olivier, Clair, Bernard, Wahbi, Karim, Lofaso, Frederic, Laforet, Pascal, Duboc, Denis, Orlikowski, David, Annane, Djillali

Journal:

ESC Heart Failure

Year:

2017

Language:

english

File:

PDF, 149 KB

english, 2017

42

LGMD AUTOSOMAL RESSESSIVE AND DOMINANT

Nelson, I., De Ridder, W., Asselbergh, B., De Paepe, B., Beuvin, M., Ben Yaou, R., Boland, A., Deleuze, J., Maisonobe, T., Eymard, B., De Bleecker, J., Symoens, S., Schindler, R., Brand, T., Töpf, A.,

Journal:

Neuromuscular Disorders

Year:

2018

File:

PDF, 98 KB

2018

43

Development and Validation of a New Risk Prediction Score for Life-Threatening Ventricular Tachyarrhythmias in Laminopathies

Wahbi, Karim, Ben Yaou, Rabah, Gandjbakhch, Estelle, Anselme, Frédéric, Gossios, Thomas, Lakdawala, Neal K., Stalens, Caroline, Sacher, Frédéric, Babuty, Dominique, Trochu, Jean-Noel, Moubarak, Ghassa

Journal:

Year:

2019

File:

PDF, 1.47 MB

2019

44

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

45

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

46

Genetic characterization of a French cohort of GNE -mutation negative inclusion body myopathy patients using exome sequencing

Cerino, M., Gorokhova, S., Laforêt, P., Ben Yaou, R., Salort-Campana, E., Pouget, J., Attarian, S., Eymard, B., Deleuze, J., Boland, A., Behin, A., Stojkovic, T., Bonne, G., Lévy, N., Bartoli, M., Kra

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 241 KB

english, 2017

47

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

48

Novel recessive splice site mutation in POPDC1 ( BVES ) is associated with first-degree atrioventricular block and muscular dystrophy

Nelson, I., Beuvin, M., Ben-Yaou, R., Masson, C., Boland, A., Schindler, R., Brand, T., Eymard, B., Bonne, G.

Journal:

Neuromuscular Disorders

Year:

2017

Language:

english

File:

PDF, 252 KB

english, 2017

49

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

50

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

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