Mallebrera, C. Jimenez: search on Z-Library

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1

Congenital Myasthenic Syndromes in childhood: Diagnostic and management challenges

M. Kinali, D. Beeson, M.C. Pitt, H. Jungbluth, A.K. Simonds, A. Aloysius, H. Cockerill, T. Davis, J. Palace, A.Y. Manzur, C. Jimenez-Mallebrera, C. Sewry, F. Muntoni, S.A. Robb

Journal:

Journal of Neuroimmunology

Year:

2008

Language:

english

File:

PDF, 1.96 MB

english, 2008

2

Prognostic value of X-chromosome inactivation in symptomatic female carriers of dystrophinopathy

Jonàs Juan-Mateu, Maria José Rodríguez, Andrés Nascimento, Cecilia Jiménez-Mallebrera, Lidia González-Quereda, Eloy Rivas, Carmen Paradas, Marcos Madruga, Pedro Sánchez-Ayaso, Cristina Jou, Laura Gonz

Journal:

Orphanet Journal of Rare Diseases

Year:

2012

Language:

english

File:

PDF, 654 KB

english, 2012

3

Mutation loads in different tissues from six pathogenic mtDNA point mutations

O'Callaghan, María M., Emperador, Sonia, Pineda, Mercè, López-Gallardo, Ester, Montero, Raquel, Yubero, Delia, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Nascimento, Andrés, Ferrer, Isidre, García-Ca

Journal:

Year:

2015

Language:

english

File:

PDF, 475 KB

english, 2015

4

Biallelic mutations in Tenascin-X cause classical-like Ehlers-Danlos syndrome with slowly progressive muscular weakness

Brisset, Marion, Metay, Corinne, Carlier, Robert-Yves, Badosa, Carmen, Marques, Caterina, Schalkwijk, Joost, vanVlijmen-Willems, Ivonne, Jimenez-Mallebrera, Cecilia, Keren, Boris, Jobic, ValÃ©rie, Laf

Journal:

Neuromuscular Disorders

Year:

2020

File:

PDF, 1.47 MB

2020

5

The phenotype and genotype of congenital myopathies based on a large pediatric cohort

Benito, Daniel Natera-de, Ortez, Carlos, Jou, Cristina, Jimenez-Mallebrera, Cecilia, Codina, Anna, Carrera-GarcÃa, Laura, ExpÃ³sito-Escudero, Jessica, Cesar, Sergi, Martorell, Loreto, Gallano, Pia, G

Journal:

Pediatric Neurology

Year:

2020

File:

PDF, 2.35 MB

2020

6

Fukutin gene mutations in steroid-responsive limb girdle muscular dystrophy

Caroline Godfrey, Diana Escolar, Martin Brockington, Emma M. Clement, Rachael Mein, Cecilia Jimenez-Mallebrera, Silvia Torelli, Lucy Feng, Susan C. Brown, Caroline A. Sewry, Mary Rutherford, Yehuda Sh

Journal:

Annals of Neurology

Year:

2006

Language:

english

File:

PDF, 503 KB

english, 2006

7

Exon skipping mutations in collagen VI are common and are predictive for severity and inheritance

A.K. Lampe, Y. Zou, D. Sudano, K.K. O'Brien, D. Hicks, S.H. Laval, R. Charlton, C. Jimenez-Mallebrera, R.-Z. Zhang, R.S. Finkel, G. Tennekoon, G. Schreiber, M.S. van der Knaap, H. Marks, V. Straub, K.

Journal:

Year:

2008

Language:

english

File:

PDF, 414 KB

english, 2008

8

Prenatal diagnosis of Ullrich congenital muscular dystrophy using haplotype analysis and collagen VI immunocytochemistry

Martin Brockington, Susan C. Brown, Anne Lampe, Yeliz Yuva, Lucy Feng, Cecilia Jimenez-Mallebrera, Caroline A. Sewry, Kevin M. Flanigan, Kate Bushby, Francesco Muntoni

Journal:

Prenatal Diagnosis

Year:

2004

Language:

english

File:

PDF, 176 KB

english, 2004

9

Congenital muscular dystrophy: molecular and cellular aspects

C. Jimenez-Mallebrera, S. C. Brown, C. A. Sewry, F. Muntoni

Journal:

Cellular and Molecular Life Sciences

Year:

2005

Language:

english

File:

PDF, 406 KB

english, 2005

10

A study of short utrophin isoforms in mice deficient for full-length utrophin

Cecilia Jimenez-Mallebrera, Kay Davies, Wendy Putt, Yvonne H. Edwards

Journal:

Mammalian Genome

Year:

2003

Language:

english

File:

PDF, 436 KB

english, 2003

11

A homozygousCOL6A2intron mutation causes in-frame triple-helical deletion and nonsense-mediated mRNA decay in a patient with Ullrich congenital muscular dystrophy

Laura Lucarini, Betti Giusti, Rui-Zhu Zhang, Te-Cheng Pan, Cecilia Jimenez-Mallebrera, Eugenio Mercuri, Francesco Muntoni, Guglielmina Pepe, Mon-Li Chu

Journal:

Year:

2005

Language:

english

File:

PDF, 452 KB

english, 2005

12

Glycogen branching enzyme deficiency in an infant with severe congenital hypotonia: an emerging diagnosis of muscle weakness in the perinatal period

Cecilia Jimenez-Mallebrera, Andres Nascimento, Victoria Cusi, Joan Ramon Corbera, Marie-Odile Rolland, Rosaline Froissart, Montse Olivé, Isidro Ferrer, Jaume Colomer

Journal:

Year:

2009

Language:

english

File:

PDF, 594 KB

english, 2009

13

Absence of neuronal nitric oxide synthase (nNOS) as a pathological marker for the diagnosis of Becker muscular dystrophy with rod domain deletions

S. Torelli, S. C. Brown, C. Jimenez-Mallebrera, L. Feng, F. Muntoni, C. A. Sewry

Journal:

Neuropathology and Applied Neurobiology

Year:

2004

Language:

english

File:

PDF, 211 KB

english, 2004

14

A Comparative Study of α-Dystroglycan Glycosylation in Dystroglycanopathies Suggests that the Hypoglycosylation of α-Dystroglycan Does Not Consistently Correlate with Clinical Severity

Cecilia Jimenez-Mallebrera, Silvia Torelli, Lucy Feng, Jihee Kim, Caroline Godfrey, Emma Clement, Rachael Mein, Stephen Abbs, Susan C. Brown, Kevin P. Campbell, Stephan Kröger, Beril Talim, Haluk Topa

Journal:

Brain Pathology

Year:

2009

Language:

english

File:

PDF, 1.56 MB

english, 2009

15

Congenital myasthenic syndrome with tubular aggregates caused byGFPT1mutations

Guergueltcheva, Velina, Müller, Juliane S., Dusl, Marina, Senderek, Jan, Oldfors, Anders, Lindbergh, Christopher, Maxwell, Susan, Colomer, Jaume, Mallebrera, Cecilia Jimenez, Nascimento, Andres

Journal:

Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 844 KB

english, 2012

16

Profound skeletal muscle depletion of α-dystroglycan in Walker-Warburg syndrome

Cecilia Jiménez-Mallebrera, Silvia Torelli, Susan C Brown, Lucy Feng, Martin Brockington, Caroline A Sewry, Daniel Beltrán-Valero De Bernabé, Francesco Muntoni

Journal:

European Journal of Paediatric Neurology

Year:

2003

Language:

english

File:

PDF, 772 KB

english, 2003

17

Prenatal diagnosis in laminin α2 chain (merosin)-deficient congenital muscular dystrophy: A collective experience of five international centers

Mariz Vainzof, Pascale Richard, Ralf Herrmann, Cecilia Jimenez-Mallebrera, Beril Talim, Lydia U. Yamamoto, Céline Ledeuil, Rachael Mein, Stephen Abbs, Martin Brockington, Norma B. Romero, Mayana Zatz,

Journal:

Neuromuscular Disorders

Year:

2005

Language:

english

File:

PDF, 204 KB

english, 2005

18

A congenital myopathy with diaphragmatic weakness not linked to the SMARD1 locus

L. Hartley, M. Kinali, R. Knight, E. Mercuri, C. Hubner, E. Bertini, A.Y. Manzur, C. Jimenez-Mallebrera, C.A. Sewry, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 250 KB

english, 2007

19

A comparative analysis of collagen VI production in muscle, skin and fibroblasts from 14 Ullrich congenital muscular dystrophy patients with dominant and recessive COL6A mutations

C. Jimenez-Mallebrera, M.A. Maioli, J. Kim, S.C. Brown, L. Feng, A.K. Lampe, K. Bushby, D. Hicks, K.M. Flanigan, C. Bonnemann, C.A. Sewry, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2006

Language:

english

File:

PDF, 2.17 MB

english, 2006

20

C.P.2.04 Skipping of exon 16 in COL6A3 is a recurrent mutation causing severe congenital muscular dystrophy type Ullrich

Y. Zou, J. Schessl, A. Lampe, Y. Hu, C. Jiménez-Mallebrera, G. Schreiber, I. Stolte-Dijkstra, A. Fock, M. Chu, K. Bushby, R. Weiss, K. Flanigan, F. Muntoni, C. Bönnemann

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 51 KB

english, 2007

21

G.P.12.12 Non-specific over-expression of utrophin in a variety of neuromuscular disorders including limb girdle muscular dystrophies and congenital myopathies

L. Feng, C. Jimenez-Mallebrera, R. Quinlivan, F. Muntoni, C. Sewry

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 61 KB

english, 2007

22

C.P.4.16 Core myopathy without mutations in RYR1 or SEPN1 genes

C. Jimenez-Mallebrera, H. Zhou, A. Manzur, L. Feng, C. Sewry, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 47 KB

english, 2007

23

C.P.3.04 Mild POMGnT1 mutations underlie a novel limb girdle muscular dystrophy variant

C. Godfrey, E. Clement, J. Tan, M. Brockington, S. Torelli, L. Feng, S. Brown, C. Jimenez-Mallebrera, C. Sewry, C. Longman, R. Mein, S. Abbs, J. Vajsar, H. Schachter, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 65 KB

english, 2007

24

G.P.1.01 Redefining the clinical spectrum of collagen VI disorders

A. Nadeau, M. Kinali, M. Main, C. Jimenez-Mallebrera, B. North, E. Clement, A.Y. Manzur, S.A. Robb, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 63 KB

english, 2008

25

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

26

P1.09 Clinical features in collagen VI deficiency

J. Colomer, A. Nascimento, C. Ortez, C. Jou, J. Corbera, F. González, T. Nunes, P. Sabatelli, F. Gualandi, C. Jimenez-Mallebrera

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 39 KB

english, 2010

27

P1.13 Pathological spectrum of collagen VI related myopathies: Does the pathology tell us something about the disease?

C. Jimenez-Mallebrera, C. Jou, J. Corbera, A. Nascimento, F. Gualandi, P. Sabatelli, J. Colomer

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 36 KB

english, 2010

28

P4.56 Early and severe axonal motor neuropathy and cardiomyopathy in a patient with mitochondrial trifunctional protein deficiency

A.N. Nascimento Osorio, C.O. Ortez, A.G. Gutierrez, C.J.M. Jimenez-Mallebrera, J.G.V. Garcia Villoria, T.R. Ribes, M.V. Vilaseca, J.C. Colomer

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 36 KB

english, 2010

29

P2.6 Muscle fibre atrophy and myogenesis co-exist in collagen VI deficient muscle

S. Paco, I. Ferrer, C. Jou, V. Cusí, J. Corbera, J. Colomer, A. Nascimento, C. Jiménez-Mallebrera

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 48 KB

english, 2011

30

Flow cytometry analysis: A quantitative method for collagen VI deficiency screening

J. Kim, C. Jimenez-Mallebrera, A.R. Foley, M. Fernandez-Fuente, S.C. Brown, S. Torelli, L. Feng, C.A. Sewry, F. Muntoni

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 897 KB

english, 2012

31

G.P.87 Demyelinating neuropathy caused by point mutations in PMP22 gene: Phenotype variability

Nascimento, A., Grazia, S., Otez, C., Poo, P., Polo, A., Jimenez-Mallebrera, C., Baas, F., Galvez, H., Iturriaga, C., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

32

G.P.88 Peripheral neuropathies caused by mutations in the myelin protein zero

Salerno, G., Ortez, C., Gálvez, H., Nascimento, A., Campistol, J., Jiménez-Mallebrera, C., Baas, F., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 47 KB

english, 2012

33

G.P.89 Early onset mitofusin 2 gene (MFN2) mutation: Report of eight patients

Colomer, J., Nascimento, A., Ortez, C., Salerno, G., Garcı´a Catalán, M.J., Jimenez-Mallebrera, C., Pons, M., Palau, F., Baas, F.

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 57 KB

english, 2012

34

P.17.6 Globular inclusions are a frequent finding in infantile Pompe’s disease

Jou, C., Nascimento, A., Ortez, C., Olivè, M., Ferrer, I., Cusí, V., Rovira, C., Sunol, M., Corbera, J., Colomer, J., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

35

THE BELGIAN DOCTORS' AND PHARMACISTS' RELIEF FUND.

Ortez, C., Nascimento, A., Jou, C., Jimenez-Mallebrera, C., Paco, S., Corbera, J., Viancalana, V., Colomer, J.

Journal:

Year:

1915

Language:

english

File:

PDF, 170 KB

english, 1915

36

P.4.8 X-linked benign form of myotubular myopathy (XLMTM) with necklace fibres: A case report

Ortez, C., Nascimento, A., Jou, C., Jimenez-Mallebrera, C., Paco, S., Corbera, J., Viancalana, V., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 59 KB

english, 2013

37

Morphology and tectonics of the Galapagos Triple junction [of the Pacific, Cocos, and Nazca plates]

Juan-Mateu, J., González-Quereda, L., Rodriguez, M.J., Jou, C., Nascimento, A., Jimenez-Mallebrera, C., Colomer, J., Baiget, M., Olive, M., Gallano, P.

Journal:

Deep Sea Research Part B. Oceanographic Literature Review

Year:

1986

Language:

english

File:

PDF, 90 KB

english, 1986

38

P.2.14 Isolated cognitive abnormalities associated to DMD mutations

Juan-Mateu, J., González-Quereda, L., Rodriguez, M.J., Jou, C., Nascimento, A., Jimenez-Mallebrera, C., Colomer, J., Baiget, M., Olive, M., Gallano, P.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 47 KB

english, 2013

39

ROYAL COLLEGE OF SURGEONS OF ENGLAND.

Juan-Mateu, J., González-Quereda, L., Rodriguez, M.J., Jou, C., Nascimento, A., Jimenez-Mallebrera, C., Colomer, J., Baiget, M., Olive, M., Gallano, P.

Journal:

Year:

1893

Language:

english

File:

PDF, 182 KB

english, 1893

40

P.1.4 Gene expression profile of collagen VI deficient human fibroblasts

Casserras, T., Kalko, S.G., Paco, S., Jou, C., Nascimento, A., Ortez, C., Colomer, J., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 46 KB

english, 2013

41

P.15.11 Megaconial congenital muscular dystrophy in two children with mutations in the CHKB Gene

Nascimento, A., Jou, C., Ortez, C., Hayashi, Y.K., Nishino, I., Olivé, M., Ferrer, I., Colomer, J., Paco, S., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

42

P.1.5 Gene expression profiling identifies molecular pathways associated with collagen VI deficiency

Paco, S., Kalko, S.G., Jou, C., Rodriguez, M.A., Cusi, V., Corbera, J., Torner, F., Muntoni, F., Feng, L., Rivas, E., Nascimento, A., Colomer, J., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2013

Language:

english

File:

PDF, 48 KB

english, 2013

43

G.P.238

Ortez, C., Fernandez, J., Laso, E. López, Nascimento, A., Olivé, M., Jou, C., Mallebrera, C. Jimenez, Baas, F., Colomer, J.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 46 KB

english, 2014

44

G.P.182

Nascimento, A., Dominguez, J., Mati, R., Ortez, C., Madruga, M., Emperador, S., Montoya, J., Aguirre, J., Jou, C., Colomer, J., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 58 KB

english, 2014

45

G.P.218

Osorio-Conles, O., Rodriguez, M.A., Paco, S., Nascimento, A., Gómez-Foix, A.M., Jimenez-Mallebrera, C.

Journal:

Neuromuscular Disorders

Year:

2014

Language:

english

File:

PDF, 45 KB

english, 2014

46

PRODUCTION OF MUCOUS GRANULES BY THE TERRESTRIAL SLUG ARION ATER L.

KAPELETA, M.V., JIMENEZ-MALLEBRERA, C., CARNICER-RODRIGUEZ, M.J., COOK, A., SHEPHARD, K.L.

Journal:

Journal of Molluscan Studies

Year:

1996

Language:

english

File:

PDF, 331 KB

english, 1996

47

Mild POMGnT1 Mutations Underlie a Novel Limb-Girdle Muscular Dystrophy Variant

Clement, Emma M., Godfrey, Caroline, Tan, Jenny, Brockington, Martin, Torelli, Silvia, Feng, Lucy, Brown, Susan C., Jimenez-Mallebrera, Cecilia, Sewry, Caroline A., Longman, Cheryl, Mein, Rachael, Abb

Journal:

Archives of Neurology

Year:

2008

Language:

english

File:

PDF, 209 KB

english, 2008

48

Response to letter from Bernardi

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

Journal:

Year:

2009

Language:

english

File:

PDF, 72 KB

english, 2009

49

Refining genotype phenotype correlations in muscular dystrophies with defective glycosylation of dystroglycan

Godfrey, C., Clement, E., Mein, R., Brockington, M., Smith, J., Talim, B., Straub, V., Robb, S., Quinlivan, R., Feng, L., Jimenez-Mallebrera, C., Mercuri, E., Manzur, A. Y., Kinali, M., Torelli, S., B

Journal:

Year:

2007

Language:

english

File:

PDF, 130 KB

english, 2007

50

Natural history of Ullrich congenital muscular dystrophy

Nadeau, A., Kinali, M., Main, M., Jimenez-Mallebrera, C., Aloysius, A., Clement, E., North, B., Manzur, A. Y., Robb, S. A., Mercuri, E., Muntoni, F.

Journal:

Year:

2009

Language:

english

File:

PDF, 301 KB

english, 2009