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1

EMG and nerve conduction studies in children with congenital muscular dystrophy

Susana Quijano-Roy, Francis Renault, Norma Romero, Pascale Guicheney, Michel Fardeau, Brigitte Estournet

Journal:

Year:

2004

Language:

english

File:

PDF, 111 KB

english, 2004

2

Diagnosis and management of spinal muscular atrophy: Part 1: Recommendations for diagnosis, rehabilitation, orthopedic and nutritional care

Mercuri, Eugenio, Finkel, Richard S., Muntoni, Francesco, Wirth, Brunhilde, Montes, Jacqueline, Main, Marion, Mazzone, Elena S., Vitale, Michael, Snyder, Brian, Quijano-Roy, Susana, Bertini, Enrico, D

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 1014 KB

english, 2018

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

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

5

Mutations in FKBP14 Cause a Variant of Ehlers-Danlos Syndrome with Progressive Kyphoscoliosis, Myopathy, and Hearing Loss

Matthias Baumann, Cecilia Giunta, Birgit Krabichler, Franz Rüschendorf, Nicoletta Zoppi, Marina Colombi, Reginald E. Bittner, Susana Quijano-Roy, Francesco Muntoni, Sebahattin Cirak, Gudrun Schreiber,

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.34 MB

english, 2012

6

POMT2 intragenic deletions and splicing abnormalities causing congenital muscular dystrophy with mental retardation

Akiko Yanagisawa, Céline Bouchet, Susana Quijano-Roy, Sandrine Vuillaumier-Barrot, Nigel Clarke, Sylvie Odent, Diana Rodriguez, Norma B. Romero, Makiko Osawa, Tamao Endo, Taratuto Ana Lia, Nathalie Se

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 284 KB

english, 2009

7

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

8

Axonotmesis of the sciatic nerve

M. Ohana, S. Quijano-Roy, F. Colas, C. Lebreton, C. Vallée, R.-Y. Carlier

Journal:

Diagnostic and Interventional Imaging

Year:

2012

Language:

english

File:

PDF, 385 KB

english, 2012

9

The Value of Respiratory Muscle Testing in Children With Neuromuscular Disease

Fauroux, Brigitte, Quijano-Roy, Susana, Desguerre, Isabelle, Khirani, Sonia

Journal:

Year:

2015

Language:

english

File:

PDF, 552 KB

english, 2015

10

Management of congenital muscular dystrophies related to defects in theLMNAgene

Susana Quijano-Roy,Adele D'Amico

Journal:

Orphanet Journal of Rare Diseases

Year:

2015

Language:

english

File:

PDF, 261 KB

english, 2015

11

Muscle MR pattern of partial Laminin α2 deficient patients and its role in diagnostic algorithms

Haberlová, J., Kynčl, M., Cavassa, E., Tasca, G., Mercuri, E., Gomez-Andrés, D., Benezit, A., Doré, B., Carlier, R., Quijano-Roy, S.

Journal:

European Journal of Paediatric Neurology

Year:

2017

Language:

english

File:

PDF, 46 KB

english, 2017

12

MYASTHENIA & RELATED DISORDERS

de la Banda, M. Gomez Garcia, Fahmi, N., Sternberg, D., Blondy, P., Quijano-Roy, S., Malfatti, E.

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 57 KB

2020

13

Phenotypic spectrum associated with mutations in the fukutin-related protein gene

Eugenio Mercuri, Martin Brockington, Volker Straub, Susana Quijano-Roy, Yeliz Yuva, Ralf Herrmann, Susan C. Brown, Silvia Torelli, Victor Dubowitz, Derek J. Blake, Norma B. Romero, Brigitte Estournet,

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 168 KB

english, 2003

14

SEPN1: Associated with congenital fiber-type disproportion and insulin resistance

Nigel F. Clarke, Warren Kidson, Susana Quijano-Roy, Brigitte Estournet, Ana Ferreiro, Pascale Guicheney, James I. Manson, Andrew J. Kornberg, Lloyd K. Shield, Kathryn N. North

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 196 KB

english, 2006

15

C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathy

Virginie Carmignac, Mustafa A. M. Salih, Susana Quijano-Roy, Sylvie Marchand, Molham M. Al Rayess, Maowia M. Mukhtar, Jon A. Urtizberea, Siegfried Labeit, Pascale Guicheney, France Leturcq, Mathias Ga

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 1.35 MB

english, 2007

16

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

17

ColVI myopathies: where do we stand, where do we go?

Valérie Allamand, Laura Briñas, Pascale Richard, Tanya Stojkovic, Susana Quijano-Roy, Gisèle Bonne

Journal:

Skeletal Muscle

Year:

2011

Language:

english

File:

PDF, 4.28 MB

english, 2011

18

NewFKRPmutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families

Nacim Louhichi, Chahnez Triki, Susana Quijano-Roy, Pascale Richard, Samira Makri, Mériem Méziou, Brigitte Estournet, Slah Mrad, NormaB. Romero, Hammadi Ayadi, Pascale Guicheney, Faiza Fakhfakh

Journal:

Year:

2004

Language:

english

File:

PDF, 768 KB

english, 2004

19

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

20

Brain MRI abnormalities in muscular dystrophy due to FKRP mutations

Susana Quijano-Roy, Itxaso Martí-Carrera, Samira Makri, Michèle Mayer, Svetlana Maugenre, Pascale Richard, Carole Berard, Louis Viollet, Bruno Leheup, Pascale Guicheney, Jean-Marc Pinard, Brigitte Est

Journal:

Brain and Development

Year:

2006

Language:

english

File:

PDF, 574 KB

english, 2006

21

Muscle Imaging in Congenital Myopathies

Susana Quijano-Roy, Robert Y. Carlier, Dirk Fischer

Journal:

Seminars in Pediatric Neurology

Year:

2011

Language:

english

File:

PDF, 2.52 MB

english, 2011

22

NMP033 Molecular analysis in congenital muscular dystrophy

L. De Meirleir, D. Hasaerts, K. Keymolen, S. Voets, M. De Rademaeker, W. Lissens, S. Seneca, S. Lamande, S. Quijano-Roy, A. Michotte

Journal:

European Journal of Paediatric Neurology

Year:

2007

Language:

english

File:

PDF, 43 KB

english, 2007

23

1FC2.3 The Identification of a Viable Outcome Measure in the Collagen VI Myopathies Promotes Progress Toward Clinical Trials

A. Reghan Foley, S. Quijano-Roy, J. Collins, V. Straub, N. Deconinck, E.M. Mercuri, A. D'Amico, E. Bertini, K. North, M. Ryan, F. Muntoni, C. Bönnemann

Journal:

European Journal of Paediatric Neurology

Year:

2011

Language:

english

File:

PDF, 52 KB

english, 2011

24

Infections à Campylobacter jejuni et à cytomégalovirus (CMV) associées au syndrome de Guillain-Barré (SGB)

D. Orlikowski, S. Quijano-Roy, V. Sivadon-Tardy, J.-C. Raphael, J.-L. Gaillard

Journal:

Archives de Pédiatrie

Year:

2006

Language:

french

File:

PDF, 122 KB

french, 2006

25

P.P.1 02 Combined approaches to diagnosis of congenital muscular dystrophies with α-dystroglycan hypoglycosylation

C. Bouchet, H. Manya, A. Yanagisawa, S. Maugenre, S. Quijano-Roy, B. Estournet, L. Merlini, H. Topaloglu, N.B. Romero, F. Leturcq, N. Seta, T. Endo, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 49 KB

english, 2006

26

P.P.1 04 Algerian FKRP mutations causing MDC1C congenital muscular dystrophy with mental retardation

S. Makri, P. Richard, S. Maugenre, N. Terki, S. Quijano-Roy, S. Assami, N.B. Romero, M. Ait-Kaci, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

27

P.I.5 Mutations in SIL1 cause Marinesco–Sjögren syndrome, a cerebellar ataxia with cataract and myopathy

J. Senderek, M. Krieger, C. Stendel, K. North, F. Muntoni, S. Quijano-Roy, F. Ebinger, J.M. Schröder, T. Voit, J. Weis, H. Topaloglu, K. Zerres

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 48 KB

english, 2006

28

G.P.7 01 Whole-body muscular MRI in early-onset muscle diseases

P. Cuvelier, S. Quijano-Roy, S. Chaabane, A. Ferreiro, D. Fisher, D. Orlikowski, N. Pellegrini, M. Hamida, N.B. Romero, P. Guicheney, P. Richard, B. Estournet, R.Y. Carlier

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 45 KB

english, 2006

29

P.P.7 06 Pronounced phenotypic variability of heterozygote deletion mutations in collagen VI – Evidence for a UCMD-BM spectrum

Y. Hu, Y. Zou, S. Quijano-Roy, A. Lampe, A. Barois, G. Tennekoon, R.S. Finkel, K. Flanigan, P. Guicheney, M.-L. Chu, A. Ferreiro, C.G. Bönnemann

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 56 KB

english, 2006

30

G.P.5.03 An infant with a congenital inflammatory myopathy further broadens the phenotypes of laminopathies

P. Jeannet, V. Spehrs, S. Quijano-Roy, P. Richard, A. Lobrinus

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 46 KB

english, 2007

31

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

32

C.P.1.14 Early-onset myopathy with cardiac involvement not-related to mutations in M-line titin: An emerging phenotype?

C. Vincitorio, V. Carmignac, M. Beuvin, B. Estournet, S. Quijano-Roy, A. Barois, F. Boyer, Y. Chaix, B. Eymard, N. Goemans, S. Iannaccone, L. Lazaro, D. Menard, V. Straub, P. Richard, L. Viollet, E. B

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

33

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

34

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

35

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

36

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

37

C.P.3.03 Novel POMT2 mutations associated with a marked reduction of POMT activity causing congenital muscular dystrophy with mental retardation and microcephaly

A. Yanagisawa, C. Bouchet, H. Manya, S. Quijano-Roy, P. van den Bergh, L. Viollet, J. Cuisset, F. Leturcq, N. Romero, M. Fardeau, N. Seta, T. Endo, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 50 KB

english, 2007

38

Protein O-mannosyltransferase activities in lymphoblasts from patients with α-dystroglycanopathies

Hiroshi Manya, Céline Bouchet, Akiko Yanagisawa, Sandrine Vuillaumier-Barrot, Susana Quijano-Roy, Yasushi Suzuki, Svetlana Maugenre, Pascale Richard, Toshiyuki Inazu, Luciano Merlini, Norma B. Romero,

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 161 KB

english, 2008

39

G.P.13.14 A new form of congenital myopathy with severe fibre immaturity

H. Amthor, S. Quijano-Roy, M. Mayer, K. Maincent, B. Estournet, J. Bataille, A. Essid, A. Lombes, P. Guicheney, M. Fardeau, K. Claeys, C. Rambaud, A. Gelot, G. Stoltenburg-Didinger

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 43 KB

english, 2008

40

T.O.1 Cyclosporin A as a potential treatment for collagen VI-related muscular dystrophy: A cellular study of mitochondrial dysfunction and its rescue

D. Hicks, A.K. Lampe, S.H. Laval, V. Allamand, C. Jimenez-Mallebrera, M. Walter, F. Muntoni, S. Quijano-Roy, P. Richard, V. Straub, H. Lochmuller, K.M.D. Bushby

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 46 KB

english, 2008

41

Four Caucasian patients with mutations in the fukutin gene and variable clinical phenotype

S. Vuillaumier-Barrot, S. Quijano-Roy, C. Bouchet-Seraphin, S. Maugenre, S. Peudenier, P. Van den Bergh, P. Marcorelles, D. Avila-Smirnow, M. Chelbi, N.B. Romero, R.Y. Carlier, B. Estournet, P. Guiche

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 2.49 MB

english, 2009

42

G.P.7.05 Prognosis of neonatal onset nemaline myopathy without molecular diagnosis

L. Servais, S. Quijano-Roy, B. Estournet, N. Laing, T. Voit, N.B. Romero

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 40 KB

english, 2009

43

G.P.7.04 Mosaic of an ACTA1 mutation in a child with nemaline myopathy and cardiomyopathy

H. Amthor, S. Quijano-Roy, S. Drouhin, K.G. Claeys, J. Bataille, B. Estournet, N.B. Romero, N. Monnier, J. Lunardi

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 41 KB

english, 2009

44

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

45

G.P.7.08 A new form of myopathy in four siblings with a distinctive muscle MRI pattern

J.M. Cuisset, N.F. Clarke, C.A. Maurage, G. Vaksmann, S. Maugenre, S. Quijano-Roy, N.B. Romero, P. Guicheney

Journal:

Neuromuscular Disorders

Year:

2009

Language:

english

File:

PDF, 39 KB

english, 2009

46

Expanding the clinical, pathological and MRI phenotype of DNM2-related centronuclear myopathy

Rachel D. Susman, Susana Quijano-Roy, Nan Yang, Richard Webster, Nigel F. Clarke, Jim Dowling, Marina Kennerson, Garth Nicholson, Valerie Biancalana, Biljana Ilkovski, Kevin M. Flanigan, Susan Arbuckl

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 3.95 MB

english, 2010

47

P4.33 The Motor Function Measure (MFM), an outcome measure for neuromuscular disorders: Preliminary results in congenital muscular dystrophy (CMD)

C.A.M. Payan, D. de Castro, S. Quijano-Roy, T. Stojkovic, C. Bérard, B. Estournet

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 39 KB

english, 2010

48

P5.14 Challenges in diagnosis and management of a patient with severe congenital myasthenic syndrome mutated in CHRNE

J. Linzoain, D. Avila-Smirnov, N. Essid, R. Rubinzstajn, V. Bigué, F. Renault, G. Bassez, D. Sternberg, B. Estournet, S. Quijano-Roy

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 57 KB

english, 2011

49

P5.62 Garches muscle Whole-Body MRI protocol: Pattern recognition in early onset neuromuscular disorders

D. Avila-Smirnow, S. Quijano-Roy, V. Allamand, G. Bonne, V. Biancalana, O. Dubourg, N. Essid, A. Ferreiro, P. Guicheney, C. Lebreton, M. Hamida, C. Ioos, F. Leturcq, N. Monnier, R. Rubinsztajn, N.B. R

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 61 KB

english, 2011

50

P2.5 The identification of a viable outcome measure in the collagen VI myopathies promotes progress toward clinical trials

A.R. Foley, S. Quijano-Roy, J. Collins, V. Straub, N. Deconinck, E. Mercuri, A. D’Amico, E. Bertini, K. North, M. Ryan, C. Rummey, T. Meier, T. Cole, F. Muntoni, C. Bönnemann

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

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