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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

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

3

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

4

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

5

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

6

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

7

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

8

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

9

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

10

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

11

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

12

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

13

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

14

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

15

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

16

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

17

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

18

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

19

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

20

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

21

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

22

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

23

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

24

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

25

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

26

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

27

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

28

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

29

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

30

A carpenter with dementia

Bertrand Degos, Andoni Echaniz-Laguna, Christine Tranchant

Journal:

Year:

2003

Language:

english

File:

PDF, 265 KB

english, 2003

31

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

32

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

33

Asthma as a Cause of Persistent Dyspnea in Treated Myasthenia Gravis Patients

Echaniz-Laguna, Andoni, Pistea, Cristina, Philippi, Nathalie, Enache, Irina, Oswald-Mammosser, Monique, De Sèze, Jérome, Charloux, Anne

Journal:

European Neurology

Year:

2012

Language:

english

File:

PDF, 175 KB

english, 2012

34

Early electrodiagnostic abnormalities in acute inflammatory demyelinating polyneuropathy: A retrospective study of 58 patients

Chanson, Jean-Baptiste, Echaniz-Laguna, Andoni

Journal:

Clinical Neurophysiology

Year:

2014

Language:

english

File:

PDF, 309 KB

english, 2014

35

Ataxie cérébelleuse récessive par mutation de POLG1 : à propos d’une famille

Kremer, Laurent, Lagha-Boukbiza, Ouhaid, Fleury, Marie-Celine, Lannes, Beatrice, Echaniz-Laguna, Andoni, Mousson De Camaret, Benedicte, Tranchant, Christine

Journal:

Revue Neurologique

Year:

2012

Language:

french

File:

PDF, 66 KB

french, 2012

36

Nouvelle mutation SPG10 associée à une atrophie médullaire, une dysautonomie et des anomalies à la biopsie cutanée

Collongues, Nicolas, Depienne, Christel, Boehm, Nelly, Echaniz-Laguna, Andoni, Brice, Alexis, Labauge, Pierre, De Seze, Jerome

Journal:

Revue Neurologique

Year:

2012

Language:

french

File:

PDF, 66 KB

french, 2012

37

Anomalies électroneuromyographiques précoces dans le syndrome de Guillain-Barré

Chanson, Jean-Baptiste, De Seze, Jérôme, Echaniz-Laguna, Andoni

Journal:

Revue Neurologique

Year:

2012

Language:

french

File:

PDF, 63 KB

french, 2012

38

Progressive demyelinating neuropathy correlates with clinical severity in Cockayne syndrome

Gitiaux, Cyril, Blin-Rochemaure, Nathalie, Hully, Marie, Echaniz-Laguna, Andoni, Calmels, Nadège, Bahi-Buisson, Nadia, Desguerre, Isabelle, Dabaj, Ivana, Wehbi, Samer, Quijano-Roy, Susana, Laugel, Vin

Journal:

Clinical Neurophysiology

Year:

2015

Language:

english

File:

PDF, 413 KB

english, 2015

39

Pompe disease presenting as an isolated generalized dilative arteriopathy with repeated brain and kidney infarcts

Quenardelle, Véronique, Bataillard, Marc, Bazin, Dorothée, Lannes, Béatrice, Wolff, Valérie, Echaniz-Laguna, Andoni

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 2.01 MB

english, 2015

40

Eosinophilic myositis as first manifestation in a patient with type 2 myotonic dystrophy CCTG expansion mutation and rheumatoid arthritis

Meyer, Alain, Lannes, Béatrice, Carapito, Raphaël, Bahram, Seiamak, Echaniz-Laguna, Andoni, Geny, Bernard, Sibilia, Jean, Gottenberg, Jacques Eric

Journal:

Neuromuscular Disorders

Year:

2015

Language:

english

File:

PDF, 1.41 MB

english, 2015

41

Small fiber neuropathy in a woman with fragile X-associated tremor/ataxia syndrome (FXTAS)

Chanson, Jean-Baptiste, Boehm, Nelly, Samama, Brigitte, Echaniz-Laguna, Andoni, Anheim, Mathieu

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 227 KB

english, 2015

42

Brachial Plexus Atrophy in Chronic Inflammatory Demyelinating Polyradiculoneuropathy

Echaniz-Laguna, Andoni, Dietemann, Jean-Louis

Journal:

Journal of Clinical Neuromuscular Disease

Year:

2012

Language:

english

File:

PDF, 178 KB

english, 2012

43

Dalfampridine in hereditary spastic paraplegia: a prospective, open study

Béreau, Matthieu, Anheim, Mathieu, Chanson, Jean-Baptiste, Tio, Grégory, Echaniz-Laguna, Andoni, Depienne, Christel, Collongues, Nicolas, de Sèze, Jérôme

Journal:

Journal of Neurology

Year:

2015

Language:

english

File:

PDF, 179 KB

english, 2015

44

La myosite aiguë bénigne virale, une cause possible de rhabdomyolyse chez l’adulte

Chanson, Jean-Baptiste, Dakayi, Claude, Lannes, Béatrice, Goichot, Bernard, Echaniz-Laguna, Andoni

Journal:

Revue Neurologique

Year:

2015

Language:

french

File:

PDF, 62 KB

french, 2015

45

Charcot-Marie-Tooth Disease Type 2A

Bombelli, Francesco, Stojkovic, Tanya, Dubourg, Odile, Echaniz-Laguna, Andoni, Tardieu, Sandrine, Larcher, Kathy, Amati-Bonneau, Patrizia, Latour, Philippe, Vignal, Odile, Cazeneuve, Cécile, Brice, Al

Journal:

Year:

2014

Language:

english

File:

PDF, 344 KB

english, 2014

46

Neuromuscular Symptoms and Elevated Creatine Kinase after Statin Withdrawal

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

Journal:

Boston Medical and Surgical Journal

Year:

2010

Language:

english

File:

PDF, 94 KB

english, 2010

47

Fat and Carbohydrate Metabolism During Exercise in Phosphoglucomutase Type 1 Deficiency

Preisler, Nicolai, Laforêt, Pascal, Echaniz-Laguna, Andoni, Ørngreen, Mette C., Lonsdorfer-Wolf, Evelyne, Doutreleau, Stephane, Geny, Bernard, Stojkovic, Tanya, Piraud, Monique, Petit, François M., Vi

Journal:

Journal of Clinical Endocrinology & Metabolism

Year:

2013

Language:

english

File:

PDF, 634 KB

english, 2013

48

Statins Trigger Mitochondrial ROS-Induced Apoptosis in Glycolytic Skeletal Muscle

BOUITBIR, Jamal, SINGH, François, CHARLES, Anne-Laure, SCHLAGOWSKI, Anna-Isabel, BONIFACIO, Annalisa, ECHANIZ-LAGUNA, Andoni, GENY, Bernard, KRÄHENBÜHL, Stephan, ZOLL, Joffrey

Journal:

Antioxidants & Redox Signaling

Year:

2015

Language:

english

File:

PDF, 1.66 MB

english, 2015

49

Serotonin 2B receptor slows disease progression and prevents degeneration of spinal cord mononuclear phagocytes in amyotrophic lateral sclerosis

El Oussini, Hajer, Bayer, Hanna, Scekic-Zahirovic, Jelena, Vercruysse, Pauline, Sinniger, Jérôme, Dirrig-Grosch, Sylvie, Dieterlé, Stéphane, Echaniz-Laguna, Andoni, Larmet, Yves, Müller, Kathrin, Weis

Journal:

Acta Neuropathologica

Year:

2016

Language:

english

File:

PDF, 4.91 MB

english, 2016

50

TDP43-Positive Intraneuronal Inclusions in a Patient with Motor Neuron Disease and Parkinson’s Disease

Chanson, Jean-Baptiste, Echaniz-Laguna, Andoni, Vogel, Thomas, Mohr, Michel, Benoilid, Aurélien, Kaltenbach, Georges, Kiesmann, Michèle

Journal:

Neurodegenerative Diseases

Year:

2010

Language:

english

File:

PDF, 386 KB

english, 2010

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