Urtizberea, J Andoni: search on Z-Library

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1

Diagnostic des maladies musculaires

Petiot, P., Urtizberea, J. Andoni

Journal:

EMC - Neurologie

Year:

2004

Language:

french

File:

PDF, 394 KB

french, 2004

2

Bilan et prise en charge des maladies neuromusculaires

Urtizberea, Jon Andoni, Miranda, Alain

Journal:

EMC - Kinésithérapie - Médecine physique - Réadaptation

Year:

2006

Language:

french

File:

PDF, 326 KB

french, 2006

3

Quand tous les chemins mènent à l’Afrique…

Urtizberea, J. Andoni, Alrohaif, Hadil, Gouda, Sayed A., Bastaki, Laila

Journal:

médecine/sciences

Year:

2019

Language:

french

File:

PDF, 6.20 MB

french, 2019

4

Deciphering the complexity of the 4q and 10q subtelomeres by molecular combing in healthy individuals and patients with facioscapulohumeral dystrophy

Nguyen, Karine, Broucqsault, Natacha, Chaix, Charlene, Roche, Stephane, Robin, Jérôme D, Vovan, Catherine, Gerard, Laurene, Mégarbané, André, Urtizberea, Jon Andoni, Bellance, Remi, Barnérias, Christi

Journal:

Journal of Medical Genetics

Year:

2019

Language:

english

File:

PDF, 1013 KB

english, 2019

5

Diagnostic des maladies musculaires

P Petiot, J.Andoni Urtizberea

Journal:

EMC - Neurologie

Year:

2004

Language:

french

File:

PDF, 768 KB

french, 2004

6

Clinical and pathological features in 15 Chinese patients with calpainopathy

Su-Shan Luo, Jian-Ying Xi, Jia-Hong Lu, Chong-Bo Zhao, Wen-Hua Zhu, Jie Lin, Yin Wang, Hui-Min Ren, Bo Yin, Urtizberea J. Andoni

Journal:

Year:

2011

Language:

english

File:

PDF, 279 KB

english, 2011

7

Actininopathy – a new muscular dystrophy caused by ACTN2 dominant mutations

Savarese, Marco, Palmio, Johanna, Poza, Juan José, Weinberg, Jan, Olive, Montse, Cobo, Ana Maria, Vihola, Anna, Jonson, Per Harald, Sarparanta, Jaakko, García‐Bragado, Federico, Urtizberea, Jon Andoni

Journal:

Annals of Neurology

Year:

2019

Language:

english

File:

PDF, 1.62 MB

english, 2019

8

Spectrum of HSPG2 (Perlecan) mutations in patients with Schwartz-Jampel syndrome

Morgane Stum, Claire-Sophie Davoine, Savine Vicart, Léna Guillot-Noël, Haluk Topaloglu, Francisco Javier Carod-Artal, Hülya Kayserili, Fayçal Hentati, Luciano Merlini, Jon Andoni Urtizberea, EL-Hadi H

Journal:

Year:

2006

Language:

english

File:

PDF, 507 KB

english, 2006

9

High Incidence of Sudden Death with Conduction System and Myocardial Disease Due to Lamins A and C Gene Mutation

HENRI-MARC BÉCANE, GISÈLE BONNE, SHAIDA VARNOUS, ANTOINE MUCHIR, VÉRONIQUE ORTEGA, EL HADI HAMMOUDA, J-ANDONI URTIZBEREA, THOMAS LAVERGNE, MICHEL FARDEAU, BRUNO EYMARD, SIMON WEBER, KETTY SCHWARTZ, DE

Journal:

Pacing and Clinical Electrophysiology

Year:

2000

Language:

english

File:

PDF, 287 KB

english, 2000

10

10.1038/1682

Brown, Robert H., Liu, Jing, Aoki, Masashi, Illa, Isabel, Wu, Chenyan, Fardeau, Michel, Angelini, Corrado, Serrano, Carmen, Urtizberea, J. Andoni, Hentati, Faycal, Hamida, Mongi Ben, Bohlega, Saeed, C

Journal:

Nature Genetics

Year:

1998

Language:

english

File:

PDF, 443 KB

english, 1998

11

A novel CRYAB mutation resulting in multisystemic disease

Sabrina Sacconi, Léonard Féasson, Jean Christophe Antoine, Christophe Pécheux, Rafaelle Bernard, Ana Maria Cobo, Alberto Casarin, Leonardo Salviati, Claude Desnuelle, Andoni Urtizberea

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 562 KB

english, 2012

12

Looking under every rock: Duchenne muscular dystrophy and traditional Chinese medicine

J. Andoni Urtizberea, Qi-Shi Fan, Elizabeth Vroom, Dominique Récan, Jean-Claude Kaplan

Journal:

Neuromuscular Disorders

Year:

2003

Language:

english

File:

PDF, 53 KB

english, 2003

13

Inefficacy of cytarabine in progressive multifocal leucoencephalopathy in AIDS

Pierre de Truchis, Marie Flament-Saillour, Jon-Andoni Urtizberea, Daniel Hassine, Bernard Clair

Journal:

Year:

1993

Language:

english

File:

PDF, 340 KB

english, 1993

14

Analyse évolutive d’une cohorte de patients atteints de myopathie héréditaire à inclusions : de l’approche « gène par gène » à l’approche « exome »

Cerino, Mathieu, Gorokhova, Svetlana, Béhin, Anthony, Urtizberea, Jon Andoni, Lévy, Nicolas, Bartoli, Marc, Krahn, Martin

Journal:

Revue Neurologique

Year:

2015

Language:

french

File:

PDF, 76 KB

french, 2015

15

Fibrodysplasia Ossificans Progressiva, a Heritable Disorder of Severe Heterotopic Ossification, Maps to Human Chromosome 4q27-31

George Feldman, Ming Li, Shelden Martin, Margrit Urbanek, J. Andoni Urtizberea, Michel Fardeau, Martine LeMerrer, J. Michael Connor, James Triffitt, Roger Smith, Maximilian Muenke, Frederick S. Kaplan

Journal:

The American Journal of Human Genetics

Year:

2000

Language:

english

File:

PDF, 214 KB

english, 2000

16

Quand tous les chemins mènent à l’Afrique…

Urtizberea, J. Andoni, Alrohaif, Hadil, Gouda, Sayed A., Bastaki, Laila

Journal:

médecine/sciences

Year:

2019

File:

PDF, 6.20 MB

2019

17

Recommendations for the management of facioscapulohumeral muscular dystrophy in 2011

Attarian, S., Salort-Campana, E., Nguyen, K., Behin, A., Andoni Urtizberea, J.

Journal:

Revue Neurologique

Year:

2012

Language:

english

File:

PDF, 468 KB

english, 2012

18

Screening of the CAPN3 gene in patients with possible LGMD2A

Martin Krahn, Rafaëlle Bernard, Christophe Pécheux, El Hadi Hammouda, Bruno Eymard, Adolfo Lopez de Munain, Anna Maria Cobo, Norma Romero, Andoni Urtizberea, France Leturcq, Nicolas Lévy, The Calpain

Journal:

Clinical Genetics

Year:

2006

Language:

english

File:

PDF, 287 KB

english, 2006

19

Clinical and genetic heterogeneity in autosomal recessive nemaline myopathy

Carina Wallgren-Pettersson, Katarina Pelin, Pirta Hilpelä, Kati Donner, Berardino Porfirio, Claudio Graziano, Kathryn J. Swoboda, Michel Fardeau, J.Andoni Urtizberea, Francesco Muntoni, Caroline Sewry

Journal:

Neuromuscular Disorders

Year:

1999

Language:

english

File:

PDF, 286 KB

english, 1999

20

233rd ENMC International Workshop:

Lostal, William, Urtizberea, J. Andoni, Richard, Isabelle, Alonso-Jiménez, Alicia, Carlier, Robert-Yves, Carson, Vincent, Diaz-Manera, Jordi, Eymard, Bruno, Fardeau, Michel, Gourlay, Marie-Laurence, G

Journal:

Neuromuscular Disorders

Year:

2018

Language:

english

File:

PDF, 1.28 MB

english, 2018

21

Reader response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

Brignol, Tuy Nga, Urtizberea, J. Andoni

Journal:

Year:

2019

File:

PDF, 127 KB

2019

22

UMD-DYSF, a novel locus specific database for the compilation and interactive analysis of mutations in the dysferlin gene

Gaelle Blandin, Christophe Beroud, Veronique Labelle, Karine Nguyen, Nicolas Wein, Dalil Hamroun, Brad Williams, Nilah Monnier, Laura E. Rufibach, Jon Andoni Urtizberea, Pierre Cau, Marc Bartoli, Nico

Journal:

Year:

2012

Language:

english

File:

PDF, 150 KB

english, 2012

23

Autosomal-Dominant Distal Myopathy Associated with a Recurrent Missense Mutation in the Gene Encoding the Nuclear Matrix Protein, Matrin 3

Jan Senderek, Sean M. Garvey, Michael Krieger, Velina Guergueltcheva, Andoni Urtizberea, Andreas Roos, Miriam Elbracht, Claudia Stendel, Ivailo Tournev, Violeta Mihailova, Howard Feit, Jeff Tramonte,

Journal:

The American Journal of Human Genetics

Year:

2009

Language:

english

File:

PDF, 1.03 MB

english, 2009

24

Dysferlinopathy in Iran: Clinical and genetic report

Fatehi, Farzad, Nafissi, Shahriar, Urtizberea, J. Andoni, Blanck-Labelle, Véronique, Lévy, Nicolas, Krahn, Martin, Dbouk, Mohamad Baker, Attarian, Shahram

Journal:

Journal of the Neurological Sciences

Year:

2015

Language:

english

File:

PDF, 336 KB

english, 2015

25

Mutation studies in X-linked myotubular myopathy in three Indian families

Sunita Bijarnia, Ratna D. Puri, Monika Jain, Neelam Kler, Subimal Roy, J. Andoni Urtizberea, Valerie Biancalana, I. C. Verma

Journal:

Indian Journal of Pediatrics

Year:

2010

Language:

english

File:

PDF, 166 KB

english, 2010

26

Reader response: A family-based study into penetrance in facioscapulohumeral muscular dystrophy type 1

Brignol, Tuy Nga, Urtizberea, J. Andoni

Journal:

Year:

2019

Language:

english

File:

PDF, 127 KB

english, 2019

27

Promoting the use of Motor Function Measure (MFM) as outcome measure in patients with Duchenne Muscular Dystrophy (DMD) treated by corticosteroids

Schreiber-Bontemps, A., Brochard, S., Fontaine-Carbonnel, S., Chabrier, S., Gautheron, V., Peudenier, S., Rippert, P., Rauscent, H., Rivier, F., Andoni Urtizberea, J., Fournier-Mehouas, M., Mahé, J.Y.

Journal:

Annals of Physical and Rehabilitation Medicine

Year:

2015

Language:

english

File:

PDF, 251 KB

english, 2015

28

Variabilité phénotypique de la myotonie canal sodium au sein d’une famille à travers 4 générations

Maguenouche, Schahrazed Linda, Urtizberea, Jon Andoni, Sternberg, Damien, Mokrane, Samira Makri

Journal:

Revue Neurologique

Year:

2018

Language:

french

File:

PDF, 227 KB

french, 2018

29

Dysferlin mutations in LGMD2B, Miyoshi myopathy, and atypical dysferlinopathies

Karine Nguyen, Guillaume Bassez, Rafaëlle Bernard, Martin Krahn, Véronique Labelle, Dominique Figarella-Branger, Jean Pouget, El Hadi Hammouda, Christophe Béroud, Andoni Urtizberea, Bruno Eymard, Fran

Journal:

Year:

2005

Language:

english

File:

PDF, 161 KB

english, 2005

30

Myologie et minorités ethniques

Urtizberea, J. Andoni, Lochmuller, Hanns, Tournev, Ivailo

Journal:

médecine/sciences

Year:

2015

Language:

french

File:

PDF, 5.43 MB

french, 2015

31

Prevalence of the 550delA mutation in calpainopathy (LGMD 2A) in Croatia

Nina Canki-Klain, Astrid Milic, Biserka Kovac, Anuska Trlaja, Damir Grgicevic, Niko Zurak, Michel Fardeau, France Leturcq, Jean-Claude Kaplan, J. Andoni Urtizberea, Luisa Politano, Giulio Piluso, Josu

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 104 KB

english, 2004

32

Refined mapping of the HMSNR critical gene region—construction of a high-density integrated genetic and physical map

Janina Hantke, Tamara Rogers, Lisa French, Ivailo Tournev, Velina Guergueltcheva, Jon Andoni Urtizberea, Jaume Colomer, Axinia Corches, Constantin Lupu, Luciano Merlini, P.K Thomas, Luba Kalaydjieva

Journal:

Neuromuscular Disorders

Year:

2003

Language:

english

File:

PDF, 321 KB

english, 2003

33

Detection of TRIM32 deletions in LGMD patients analyzed by a combined strategy of CGH array and massively parallel sequencing

Nectoux, Juliette, de Cid, Rafael, Baulande, Sylvain, Leturcq, France, Urtizberea, Jon Andoni, Penisson-Besnier, Isabelle, Nadaj-Pakleza, Aleksandra, Roudaut, Carinne, Criqui, Audrey, Orhant, Lucie, P

Journal:

European Journal of Human Genetics

Year:

2015

Language:

english

File:

PDF, 884 KB

english, 2015

34

GNE myopathy in the Bedouin population of Kuwait: Genetics, prevalence and clinical description

Alrohaif, Hadil, Pogoryelove, Oksana, Al-Ajmi, Abdullah, Aljeryan, Lulwa A, Alrashidi, Nuwayer H, Alefasi, Sara A, Urtizberea, Andoni, Lochmüller, Hanns, Bastaki, Laila

Journal:

Year:

2018

Language:

english

File:

PDF, 1.30 MB

english, 2018

35

Vers une harmonisation du diagnostic par séquençage haut débit des maladies neuromusculaires

Perrin, Aurélien, Latour, Philippe, Procaccio, Vincent, Jardel, Claude, Cérino, Mathieu, Bonne, Gisèle, Salort-Campana, Emmanuelle, Urtizberea, J. Andoni, Pouget, Jean, Krahn, Martin, Cossée, Mireille

Journal:

médecine/sciences

Year:

2018

Language:

french

File:

PDF, 430 KB

french, 2018

36

Genetic linkage of progressive pseudorheumatoid dysplasia to a 3-cM interval of chromosome 6q22

J. Fischer, Jon Andoni Urtizberea, Sylvana Pavek, Claire Vandiedonck, Thomas Bruls, Safa Saker, Yhia Alkatip, Jean-François Prud’homme, Jean Weissenbach

Journal:

Year:

1998

Language:

english

File:

PDF, 117 KB

english, 1998

37

A frame–shift deletion in the survival motor neuron gene in Spanish spinal muscular atrophy patients

Bussaglia, Elena, Clermont, Olivier, Tizzano, Eduardo, Lefebvre, Suzie, Bürglen, Lydie, Cruaud, Corinne, Urtizberea, Jon Andoni, Colomer, Jaume, Munnich, Arnold, Baiget, Montserrat

Journal:

Nature Genetics

Year:

1995

File:

PDF, 307 KB

1995

38

Myopathy with hexagonally cross-linked crystalloid inclusions: Delineation of a clinico-pathological entity

Kristl G. Claeys, Jean-François Pellissier, Federico Garcia-Bragado, Joachim Weis, Andoni Urtizberea, Juan-Jose Poza, Ana-Maria Cobo, Gisela Stoltenburg, Dominique Figarella-Branger, Patrick J. Willem

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 871 KB

english, 2010

39

Une cause inhabituelle d’hyperCKémie

Modrego, Pedro J., Gazulla, José, Cobo, Ana-Maria, Andoni Urtizberea, J.

Journal:

médecine/sciences

Year:

2016

Language:

french

File:

PDF, 591 KB

french, 2016

40

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

41

La Finlande : un héritage génétique idéalement mis en valeur

Udd, Bjarne, Brignol, Tuy Nga, Andoni Urtizberea, J.

Journal:

médecine/sciences

Year:

2016

Language:

french

File:

PDF, 3.12 MB

french, 2016

42

Pneumothorax récidivants chez un patient atteint de dystrophie musculaire congénitale avec déficit en collagène VI

Bellance, Rémi, Valentino, Rudy, Sanchez, Bruno, Labrada-Blanco, Octavio, Manere, Linda, Andoni Urtizberea, J., Sarrazin, Elisabeth

Journal:

médecine/sciences

Year:

2017

Language:

french

File:

PDF, 504 KB

french, 2017

43

Cuando el continente LatinoAmericano empezó a involucrarse más activamente en el tema neuromuscular …

Urtizberea, J. Andoni, Romero, Norma B., Bevilacqua, Jorge A.

Journal:

Revista Médica Clínica Las Condes

Year:

2018

File:

PDF, 70 KB

2018

44

Nonsense mutations in alpha-II spectrin in three families with juvenile onset hereditary motor neuropathy

Beijer, Danique, Deconinck, Tine, De Bleecker, Jan L, Dotti, Maria Teresa, Malandrini, Alessandro, Urtizberea, J Andoni, Zulaica, Miren, López de Munain, Adolfo, Asselbergh, Bob, De Jonghe, Peter, Bae

Journal:

Year:

2019

Language:

english

File:

PDF, 1.01 MB

english, 2019

45

Dynamin 2 mutations associated with human diseases impair clathrin-mediated receptor endocytosis

Marc Bitoun, Anne-Cécile Durieux, Bernard Prudhon, Jorge A. Bevilacqua, Adrien Herledan, Vehary Sakanyan, Andoni Urtizberea, Luis Cartier, Norma B. Romero, Pascale Guicheney

Journal:

Year:

2009

Language:

english

File:

PDF, 427 KB

english, 2009

46

Congenital muscular dystrophy type 1D (MDC1D) due to a large intragenic insertion/deletion, involving intron 10 of the LARGE gene

Clarke, Nigel F, Maugenre, Svetlana, Vandebrouck, Aurélie, Urtizberea, J Andoni, Willer, Tobias, Peat, Rachel A, Gray, Françoise, Bouchet, Céline, Manya, Hiroshi, Vuillaumier-Barrot, Sandrine

Journal:

European Journal of Human Genetics

Year:

2011

Language:

english

File:

PDF, 447 KB

english, 2011

47

Severe limb girdle muscular dystrophy in Spanish gypsies: further evidence for a founder mutation in the γ-sarcoglycan gene

Lasa, Adriana, Piccolo, Federica, de Diego, Carles, Jeanpierre, Marc, Colomer, Jaume, Rodríguez, Maria José, Urtizberea, Jon Andoni, Baiget, Montserrat, Kaplan, Jean Claude, Gallano, Pia

Journal:

European Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 140 KB

english, 1998

48

Pseudo-metabolic presentation in a Duchenne muscular dystrophy symptomatic carrier with ‘de novo’ duplication of dystrophin gene

Norma Beatriz Romero, Pascale De Lonlay, Stéphane Llense, France Leturcq, Guy Touati, J-Andoni Urtizberea, Jean Marie Saudubray, Arnold Munnich, Jean Claude Kaplan, Dominique Récan

Journal:

Neuromuscular Disorders

Year:

2001

Language:

english

File:

PDF, 576 KB

english, 2001

49

A Common Haplotype Associated with the Basque 2362AG → TCATCT Mutation in the Muscular Calpain-3 Gene

ANA MARÍA COBO, AMETZ SÁENZ, JUAN JOSÉ POZA, MIGUEL URTASUN, BEGOÑA INDAKOETXEA, JON ANDONI URTIZBEREA, ADOLFO LÓPEZ DE MUNAIN and FRANCESC CALAFELL

Journal:

Year:

2004

Language:

english

File:

PDF, 852 KB

english, 2004

50

Variabilité phénotypique de la myotonie canal sodium au sein d’une famille à travers 4 générations

Maguenouche, Schahrazed Linda, Urtizberea, Jon Andoni, Sternberg, Damien, Mokrane, Samira Makri

Journal:

Revue Neurologique

Year:

2018

File:

PDF, 227 KB

2018

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