A. Echaniz-Laguna: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

1

Les nouvelles myopathies inflammatoires

Meyer, Alain, Lannes, Béatrice, Goetz, Joëlle, Echaniz-Laguna, Andoni, Lipsker, Dan, Arnaud, Laurent, Martin, Thierry, Gottenberg, Jacques Eric, Geny, Bernard, Sibilia, Jean

Journal:

Revue du Rhumatisme

Year:

2017

Language:

french

File:

PDF, 589 KB

french, 2017

2

Myasthénie avec anticorps anti-MuSK

Echaniz-Laguna, A.

Journal:

Pratique Neurologique - FMC

Year:

2012

File:

PDF, 366 KB

2012

3

Late-onset Pompe disease in France: molecular features and epidemiology from a nationwide study

Semplicini, Claudio, Letard, Pascaline, De Antonio, Marie, Taouagh, Nadjib, Perniconi, Barbara, Bouhour, Françoise, Echaniz-Laguna, Andoni, Orlikowski, David, Sacconi, Sabrina, Salort-Campana, Emmanue

Journal:

Journal of Inherited Metabolic Disease

Year:

2018

Language:

english

File:

PDF, 792 KB

english, 2018

4

Chronic inflammatory demyelinating polyradiculoneuropathy in patients with liver transplantation

Andoni Echaniz-Laguna, Fabrice Battaglia, Bernard Ellero, Michel Mohr, Daniel Jaeck

Journal:

Year:

2004

Language:

english

File:

PDF, 133 KB

english, 2004

5

Novel Lamp-2 gene mutation and successful treatment with heart transplantation in a large family with Danon disease

Andoni Echaniz-Laguna, Michel Mohr, Eric Epailly, Ichizo Nishino, Philippe Charron, Pascale Richard, Christophe Guiraud-Chaumeil, Christine Tranchant

Journal:

Year:

2006

Language:

english

File:

PDF, 219 KB

english, 2006

6

A study of three patients with amyotrophic lateral sclerosis and a polyneuropathy resembling CIDP

Andoni Echaniz-Laguna, Bertrand Degos, Michel Mohr, Romain Kessler, Emilie Urban-Kraemer, Christine Tranchant

Journal:

Year:

2006

Language:

english

File:

PDF, 207 KB

english, 2006

7

Mitochondrial dysfunction in amyotrophic lateral sclerosis also affects skeletal muscle

Luc Dupuis, Jose-Luis Gonzalez de Aguilar, Andoni Echaniz-Laguna, Jean-Philippe Loeffler

Journal:

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

8

Electrophysiological studies in a mouse model of Schwartz–Jampel syndrome demonstrate muscle fiber hyperactivity of peripheral nerve origin

Andoni Echaniz-Laguna, Frédérique Rene, Christophe Marcel, Marie Bangratz, Bertrand Fontaine, Jean-Philippe Loeffler, Sophie Nicole

Journal:

Year:

2009

Language:

english

File:

PDF, 323 KB

english, 2009

9

Diagnostic approach to neonatal hypotonia: retrospective study on 144 neonates

Vincent Laugel, Mireille Cossée, Jacqueline Matis, Anne de Saint-Martin, Andoni Echaniz-Laguna, Jean-Louis Mandel, Dominique Astruc, Michel Fischbach, Jean Messer

Journal:

European Journal of Pediatrics

Year:

2008

Language:

english

File:

PDF, 137 KB

english, 2008

10

Novel SPG10 mutation associated with dysautonomia, spinal cord atrophy, and skin biopsy abnormality

N. Collongues, C. Depienne, N. Boehm, A. Echaniz-Laguna, B. Samama, A. Dürr, G. Stevanin, E. Leguern, A. Brice, P. Labauge, J. de Seze

Journal:

European Journal of Neurology

Year:

2012

Language:

english

File:

PDF, 647 KB

english, 2012

11

Les maladies mitochondriales : quand faut-il y penser ?

Echaniz-Laguna, A.

Journal:

Pratique Neurologique - FMC

Year:

2014

Language:

french

File:

PDF, 558 KB

french, 2014

12

Intérêt de la biopsie musculaire dans la camptocormie isolée : une étude prospective

Chanson, J.-B., Lannes, B., Echaniz-Laguna, A.

Journal:

Revue Neurologique

Year:

2014

Language:

french

File:

PDF, 303 KB

french, 2014

13

Polyradiculonévrite aiguë inflammatoire révélant une neuropathie héréditaire avec hypersensibilité à la pression

Degos, B., Echaniz-Laguna, A., Latour, P., Vandenberghe, A., Anheim, M., Talmant, V., Tranchant, C.

Journal:

Revue Neurologique

Year:

2004

File:

PDF, 79 KB

2004

14

Evidence of a dosage effect and a physiological endplate acetylcholinesterase deficiency in the first mouse models mimicking Schwartz-Jampel syndrome neuromyotonia

Stum, M., Girard, E., Bangratz, M., Bernard, V., Herbin, M., Vignaud, A., Ferry, A., Davoine, C.-S., Echaniz-Laguna, A., Rene, F., Marcel, C., Molgo, J., Fontaine, B., Krejci, E., Nicole, S.

Journal:

Human Molecular Genetics

Year:

2008

Language:

english

File:

PDF, 908 KB

english, 2008

15

SHOULD patients with asymptomatic pompe disease be treated? A nationwide study in france

Echaniz-Laguna, Andoni, Carlier, Robert-Yves, Laloui, Kenza, Carlier, Pierre, Salort-Campana, Emmanuelle, Pouget, Jean, Laforet, Pascal

Journal:

Year:

2015

Language:

english

File:

PDF, 334 KB

english, 2015

16

A metabolic switch toward lipid use in glycolytic muscle is an early pathologic event in a mouse model of amyotrophic lateral sclerosis

Palamiuc, L., Schlagowski, A., Ngo, S. T., Vernay, A., Dirrig-Grosch, S., Henriques, A., Boutillier, A.-L., Zoll, J., Echaniz-Laguna, A., Loeffler, J.-P., Rene, F.

Journal:

EMBO Molecular Medicine

Year:

2015

Language:

english

File:

PDF, 2.53 MB

english, 2015

17

Une polyneuropathie axonale chez un homme de 66 ans

Camdessanché, J.-P., Sellal, F., Echaniz-Laguna, A.

Journal:

Pratique Neurologique - FMC

Year:

2017

Language:

french

File:

PDF, 219 KB

french, 2017

18

Mitochondrial respiratory chain function in skeletal muscle of ALS patients

Andoni Echaniz-Laguna, Joffrey Zoll, Florence Ribera, Christine Tranchant, Jean-Marie Warter, Jean Lonsdorfer, Eliane Lampert

Journal:

Annals of Neurology

Year:

2002

Language:

english

File:

PDF, 86 KB

english, 2002

19

Reply

Andoni Echaniz-Laguna, Joffrey Zoll, Florence Ribera, Christine Tranchant, Jean-Marie Warter, Jean Lonsdorfer, Eliane Lampert

Journal:

Annals of Neurology

Year:

2003

Language:

english

File:

PDF, 72 KB

english, 2003

20

Nogo expression in muscle correlates with amyotrophic lateral sclerosis severity

Natasa Jokic, Jose-Luis Gonzalez de Aguilar, Pierre-François Pradat, Luc Dupuis, Andoni Echaniz-Laguna, André Muller, Odile Dubourg, Danielle Seilhean, Jean-Jacques Hauw, Jean-Philippe Loeffler, Vince

Journal:

Annals of Neurology

Year:

2005

Language:

english

File:

PDF, 127 KB

english, 2005

21

Muscle Nogo-a expression is a prognostic marker in lower motor neuron syndromes

Pierre-François Pradat, Gaelle Bruneteau, Jose-Luis Gonzalez de Aguilar, Luc Dupuis, Natasa Jokic, François Salachas, Nadine Le Forestier, Andoni Echaniz-Laguna, Odile Dubourg, Jean-Jacques Hauw, Chri

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 96 KB

english, 2007

22

Reply

Pierre-François Pradat, Jose-Luis Gonzalez de Aguilar, Gaelle Bruneteau, Luc Dupuis, Andoni Echaniz-Laguna, Jean-Philippe Loeffler, Vincent Meininger

Journal:

Annals of Neurology

Year:

2007

Language:

english

File:

PDF, 41 KB

english, 2007

23

Diffusion-weighted MRI of denervated muscle: a clinical and experimental study

Nathalie Holl, Andoni Echaniz-Laguna, Guillaume Bierry, Michel Mohr, Jean-Philippe Loeffler, Thomas Moser, Jean-Louis Dietemann, Stéphane Kremer

Journal:

Skeletal Radiology

Year:

2008

Language:

english

File:

PDF, 310 KB

english, 2008

24

The Miller Fisher syndrome: neurophysiological and MRI evidence of both peripheral and central origin in one case

Andoni Echaniz-Laguna, Fabrice Battaglia, Ronny Heymann, Christine Tranchant, Jean-Marie Warter

Journal:

Journal of Neurology

Year:

2000

Language:

english

File:

PDF, 133 KB

english, 2000

25

Is clonidine growth hormone stimulation a good test to differentiate multiple system atrophy from idiopathic Parkinson's disease?

C. Trachant, C. Guiraud-Chaumeil, A. Echaniz-Laguna, J. M. Warter

Journal:

Journal of Neurology

Year:

2000

Language:

english

File:

PDF, 157 KB

english, 2000

26

Homozygous exon 7 deletion of the SMN centromeric gene (SMN2): A potential susceptibility factor for adult-onset lower motor neuron disease

Andoni Echaniz-Laguna, Christophe Guiraud-Chaumeil, Christine Tranchant, André Reeber, Judith Melki, Jean-Marie Warter

Journal:

Journal of Neurology

Year:

2002

Language:

english

File:

PDF, 139 KB

english, 2002

27

A novel variation in the Twinkle linker region causing late-onset dementia

Andoni Echaniz-Laguna, Jean-Baptiste Chanson, Jean-Marie Wilhelm, François Sellal, Martine Mayençon, Michel Mohr, Christine Tranchant, Bénédicte Mousson de Camaret

Journal:

Year:

2010

Language:

english

File:

PDF, 181 KB

english, 2010

28

Amyotrophic lateral sclerosis: all roads lead to Rome

Jose-Luis Gonzalez de Aguilar, Andoni Echaniz-Laguna, Anissa Fergani, Frédérique René, Vincent Meininger, Jean-Philippe Loeffler, Luc Dupuis

Journal:

Journal of Neurochemistry

Year:

2007

Language:

english

File:

PDF, 528 KB

english, 2007

29

Lupus Anticoagulant Induced by the Combination of Valproate and Lamotrigine

Andoni Echaniz-Laguna, Anne Thiriaux, Isabelle Ruolt-Olivesi, Christian Marescaux, Edouard Hirsch

Journal:

Year:

1999

Language:

english

File:

PDF, 225 KB

english, 1999

30

Next generation sequencing for molecular diagnosis of neuromuscular diseases

Nasim Vasli, Johann Böhm, Stéphanie Le Gras, Jean Muller, Cécile Pizot, Bernard Jost, Andoni Echaniz-Laguna, Vincent Laugel, Christine Tranchant, Rafaelle Bernard, Frédéric Plewniak, Serge Vicaire, Ni

Journal:

Acta Neuropathologica

Year:

2012

Language:

english

File:

PDF, 624 KB

english, 2012

31

Current French Pompe Prevalence Study (French PoPS)

S. Sacconi, M. Piraud, A. Echaniz-Laguna, C. Tranchant, C. Boutte, A. Nadaj, I. Penisson-Besnier, F. Bouhour, H. Gervais, P. Petiot, V. Manel, J. Gallard, E. Salort-Campana, G. Solé, M. Pages, B. Eche

Journal:

Clinical Therapeutics

Year:

2011

Language:

english

File:

PDF, 84 KB

english, 2011

32

Oxidative stress in skeletal muscle stimulates early expression of Rad in a mouse model of amyotrophic lateral sclerosis

Benoît Halter, José-Luis Gonzalez de Aguilar, Frédérique Rene, Susanne Petri, Bastien Fricker, Andoni Echaniz-Laguna, Luc Dupuis, Yves Larmet, Jean-Philippe Loeffler

Journal:

Free Radical Biology and Medicine

Year:

2010

Language:

english

File:

PDF, 814 KB

english, 2010

33

Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C

Marion Yger, Tanya Stojkovic, Sandrine Tardieu, Thierry Maisonobe, Alexis Brice, Andoni Echaniz-Laguna, Yves Alembik, Samantha Girard, Cécile Cazeneuve, Eric LeGuern, Odile Dubourg

Journal:

Journal of the Peripheral Nervous System

Year:

2012

Language:

english

File:

PDF, 550 KB

english, 2012

34

A Mouse Model of Schwartz-Jampel Syndrome Reveals Myelinating Schwann Cell Dysfunction with Persistent Axonal Depolarization in Vitro and Distal Peripheral Nerve Hyperexcitability When Perlecan Is Lacking

Marie Bangratz, Nadège Sarrazin, Jérôme Devaux, Désirée Zambroni, Andoni Echaniz-Laguna, Frédérique René, Delphine Boërio, Claire-Sophie Davoine, Bertrand Fontaine, Maria Laura Feltri, Evelyne Benoit,

Journal:

The American Journal of Pathology

Year:

2012

Language:

english

File:

PDF, 3.70 MB

english, 2012

35

Muscular mitochondrial function in amyotrophic lateral sclerosis is progressively altered as the disease develops: A temporal study in man

Andoni Echaniz-Laguna, Joffrey Zoll, Elodie Ponsot, Benoit N'Guessan, Christine Tranchant, Jean-Philippe Loeffler, Eliane Lampert

Journal:

Experimental Neurology

Year:

2006

Language:

english

File:

PDF, 138 KB

english, 2006

36

NDRG1-linked Charcot-Marie-Tooth disease (CMT4D) with central nervous system involvement

Andoni Echaniz-Laguna, Bertrand Degos, Céline Bonnet, Philippe Latour, Tarik Hamadouche, Nicolas Lévy, Bruno Leheup

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 218 KB

english, 2007

37

Subtle central and peripheral nervous system abnormalities in a family with centronuclear myopathy and a novel dynamin 2 gene mutation

Andoni Echaniz-Laguna, Anne-Sophie Nicot, Sophie Carré, Jérôme Franques, Christine Tranchant, Nicolas Dondaine, Valérie Biancalana, Jean-Louis Mandel, Jocelyn Laporte

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 1.56 MB

english, 2007

38

C.P.4.10 Mutation spectrum of the large GTPase dynamin 2 in autosomal centronuclear myopathy

A. Toussaint, A. Nicot, N. Dondaine, C. Kretz, C. Poirson, E. Zanoteli, C. Wallgren-Pettersson, A. Echaniz-Laguna, L. Bomme Ousager, A. Krause, C. Jern, L. Merlini, A. Oliveira, V. Biancalana, J. Mand

Journal:

Neuromuscular Disorders

Year:

2007

Language:

english

File:

PDF, 46 KB

english, 2007

39

D.P.2.10 Electrophysiological studies in a mouse model of Schwartz–Jampel syndrome

A. Echaniz-Laguna, F. Rene, C. Marcel, M. Stum, B. Fontaine, J.P. Loeffler, S. Nicole

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 63 KB

english, 2008

40

G.P.16.03. A clinical and genetic study of 2 patients with myopathy and phosphorylase kinase deficiency (glycogenosis type VIII)

A. Echaniz-Laguna, H.O. Akman, M. Mohr, C. Tranchant, I. Maire, S. di Mauro

Journal:

Neuromuscular Disorders

Year:

2008

Language:

english

File:

PDF, 62 KB

english, 2008

41

Muscle phosphorylase b kinase deficiency revisited

Andoni Echaniz-Laguna, Hasan O. Akman, Michel Mohr, Christine Tranchant, Violaine Talmant-Verbist, Marie-Odile Rolland, Salvatore Dimauro

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 231 KB

english, 2010

42

P1.35 Amphiphysin 2 (BIN1) and triad defects in several forms of centronuclear myopathies

A. Toussaint, M. Maurer, B.S. Cowling, K. Hnia, M. Mohr, A. Oldfors, Y. Schwab, U. Yis, T. Maisonobe, T. Stojkovic, V. Laugel, A. Echaniz-Laguna, S. Blot, J.L. Mandel, L. Tiret, I. Nishino, J. Laporte

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 40 KB

english, 2010

43

Myopathies in the elderly: A hospital-based study

Andoni Echaniz-Laguna, Michel Mohr, Béatrice Lannes, Christine Tranchant

Journal:

Neuromuscular Disorders

Year:

2010

Language:

english

File:

PDF, 268 KB

english, 2010

44

P5.47 No second wind phenomenon, but glucose improves exercise capacity in Phosphoglucomutase deficiency

N. Preisler, M.C. Orngreen, P. Laforet, A. Echaniz-Laguna, E. Lonsdorfer-Wolf, S. Doutreleau, B. Geny, J. Vissing

Journal:

Neuromuscular Disorders

Year:

2011

Language:

english

File:

PDF, 50 KB

english, 2011

45

Carcinome épidermoïde de l’amygdale et atteinte musculaire paranéoplasique : à propos de deux cas

M. Rondeau-Lutz, Y.A. Echaniz-Laguna, A. Fleury, J.-C. Weber

Journal:

La Revue de Médecine Interne

Year:

2008

Language:

french

File:

PDF, 55 KB

french, 2008

46

A carpenter with dementia

Bertrand Degos, Andoni Echaniz-Laguna, Christine Tranchant

Journal:

Year:

2003

Language:

english

File:

PDF, 265 KB

english, 2003

47

A Ali Chérif, M Balzamo, ,Les troubles cognitifs et comportementaux de la maladie de Parkinson Congrès de psychiatrie et de neurologie de langue française (1996) Masson,Paris 215.

A Echaniz-Laguna

Journal:

Neurophysiologie Clinique/Clinical Neurophysiology

Year:

1997

Language:

french

File:

PDF, 89 KB

french, 1997

48

The Promoters of the Survival Motor Neuron Gene (SMN) and Its Copy (SMNc) Share Common Regulatory Elements

Andoni Echaniz-Laguna, Pierre Miniou, Deborah Bartholdi, Judith Melki

Journal:

The American Journal of Human Genetics

Year:

1999

Language:

english

File:

PDF, 230 KB

english, 1999

49

C.P.15 K7del is a recurrent TPM2 nemaline myopathy mutation associated with joint contractures and increased calcium sensitivity

Mokbel, N., Ilkovski, B., Memo, M., Marttila, M., Kreissl, M., Wallgren-Pettersson, C., Menard, D., Marcorelles, P., Echaniz-Laguna, A., Reimann, J., Vainzof, M., Monnier, N., Nowak, K., McNamara, E.,

Journal:

Neuromuscular Disorders

Year:

2012

Language:

english

File:

PDF, 53 KB

english, 2012

50

Telomere length and regulatory proteins in human skeletal muscle with and without ongoing regenerative cycles

Elodie Ponsot, Andoni Echaniz-Laguna, Anna-Maria Delis, Fawzi Kadi

Journal:

Experimental Physiology

Year:

2012

Language:

english

File:

PDF, 331 KB

english, 2012