Andoni Echaniz-Laguna

ORCID

Publication Activity (10 Years)

Years Active: 2019-2024
Publications (10 Years): 21

Top Venues

European journal of neurology

International journal of molecular sciences

Neurogenetics

Journal of clinical medicine

This page only lists publications with an associated author ORCID identifier.

Publications

Maria Ceprian, Raul Juntas-Morales, Graham Campbell, Ulrike Walther-Louvier, François Rivier, William Camu, Florence Esselin, Andoni Echaniz-Laguna, Kristl G Claeys, Françoise Bouhour, Philippe Latour, Nicolas Tricaud
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering. International journal of molecular sciences 25 (8) (2024)
Celine Konecki, Bruno Francou, Kenneth Chappell, Lucie Augey, Guillemette Beaudonnet, Cécile Cauquil, Dalia Dimitri-Boulos, Adeline Not, Clovis Adam, Vianney Poinsignon, Céline Verstuyft, David Adams, Andoni Echaniz-Laguna, Céline Labeyrie
Nonamyloidogenic TTR gene variants c.76G>A and c.337-18G>C are not associated with idiopathic small-fiber neuropathy. European journal of neurology (2024)
Maria Ceprian, Raul Juntas-Morales, Graham Campbell, Ulrike Walther-Louvier, François Rivier, William Camu, Florence Esselin, Andoni Echaniz-Laguna, Kristl G Claeys, Françoise Bouhour, Philippe Latour, Nicolas Tricaud
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering. International journal of molecular sciences 25 (8) (2024)
Maria Ceprian, Raul Juntas-Morales, Graham Campbell, Ulrike Walther-Louvier, François Rivier, William Camu, Florence Esselin, Andoni Echaniz-Laguna, Kristl G Claeys, Françoise Bouhour, Philippe Latour, Nicolas Tricaud
The Hexokinase 1 5'-UTR Mutation in Charcot-Marie-Tooth 4G Disease Alters Hexokinase 1 Binding to Voltage-Dependent Anion Channel-1 and Leads to Dysfunctional Mitochondrial Calcium Buffering. International journal of molecular sciences 25 (8) (2024)
Clément Vialatte de Pémille, Nicolas Noel, Clovis Adam, Céline Labeyrie, Adeline Not, Guillemette Beaudonnet, Andoni Echaniz-Laguna, David Adams, Cécile Cauquil
Red Flags for Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated with Sarcoidosis or Connective Tissue Diseases. Journal of clinical medicine 12 (9) (2023)
Clément Vialatte de Pémille, Nicolas Noel, Clovis Adam, Céline Labeyrie, Adeline Not, Guillemette Beaudonnet, Andoni Echaniz-Laguna, David Adams, Cécile Cauquil
Red Flags for Chronic Inflammatory Demyelinating Polyradiculoneuropathy Associated with Sarcoidosis or Connective Tissue Diseases. Journal of clinical medicine 12 (9) (2023)
Luce Barbat du Closel, Nathalie Bonello-Palot, Yann Péréon, Andoni Echaniz-Laguna, Jean-Philippe Camdessanché, Aleksandra Nadaj Pakleza, Jean-Baptiste Chanson, Simon Frachet, Laurent Magy, Julien Cassereau, Pascal Cintas, Ariane Choumert, Perrine Devic, Sarah Léonard Louis, Robinson Gravier Dumonceau, Emilien Delmont, Emmanuelle Salort-Campana, Françoise Bouhour, Philippe Latour, Tanya Stojkovic, Shahram Attarian
Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease. European journal of neurology (2023)
Andoni Echaniz-Laguna, Cécile Cauquil, Jean-Baptiste Chanson, Céline Tard, Lucie Guyant-Marechal, Thierry Kuntzer, Ioana Maria Ion, Anne-Sophie Lia, Jérôme Bouligand, Vianney Poinsignon
EGR2 gene-linked hereditary neuropathies present with a bimodal age distribution at symptoms onset. Journal of the peripheral nervous system : JPNS (2023)
Pierre Socie, Anouar Benmalek, Cécile Cauquil, Eve Piekarski, Ilias Kounis, Ludivine Eliahou, Antoine Rousseau, Francois Rouzet, Andoni Echaniz-Laguna, Didier Samuel, David Adams, Michel S Slama, Vincent Algalarrondo
Comparison between tafamidis and liver transplantation as first-line therapy for hereditary transthyretin amyloidosis. Amyloid : the international journal of experimental and clinical investigation : the official journal of the International Society of Amyloidosis (2023)
Claire Peillet, David Adams, Shahram Attarian, Françoise Bouhour, Cécile Cauquil, Julien Cassereau, Jean-Baptiste Chanson, Pascal Cintas, Alain Créange, Emilien Delmont, Guillaume Fargeot, Steeve Genestet, Antoine Gueguen, Anne-Laure Kaminsky, Thierry Kuntzer, Céline Labeyrie, Maud Michaud, Yann Pereon, Angela Puma, Karine Viala, Pascale Chretien, Clovis Adam, Andoni Echaniz-Laguna
Anti-disialosyl-immunoglobulin M chronic autoimmune neuropathies: a nationwide multicenter retrospective study. European journal of neurology 29 (12) (2022)
Luca Leonardi, Clovis Adam, Guillemette Beaudonnet, Diane Beauvais, Cécile Cauquil, Adeline Not, Olivier Morassi, Anouar Benmalek, Olivier Trassard, Andoni Echaniz-Laguna, David Adams, Céline Labeyrie
Skin amyloid deposits and nerve fiber loss as markers of neuropathy onset and progression in hereditary transthyretin amyloidosis. European journal of neurology 29 (5) (2022)
Guillaume Fargeot, Andoni Echaniz-Laguna
Sensory neuronopathies: new genes, new antibodies and new concepts. Journal of neurology, neurosurgery, and psychiatry (2021)
Andoni Echaniz-Laguna, Cecilia Altuzarra, Alain Verloes, Marta Gomez Garcia De La Banda, Susana Quijano-Roy, Raluca Anca Tudorache, Altynshash Jaxybayeva, Bakhytkul Myrzaliyeva, Meriem Tazir, Jean-Michel Vallat, Bruno Francou, Jon Andoni Urtizberea
NTRK1 gene-related congenital insensitivity to pain with anhidrosis: a nationwide multicenter retrospective study. Neurogenetics 22 (4) (2021)
Andoni Echaniz-Laguna
Response to Gasparini et al. European journal of neurology 28 (11) (2021)
Fabien Hauw, Guillaume Fargeot, David Adams, Shahram Attarian, Cécile Cauquil, Jean-Baptiste Chanson, Alain Créange, Thierry Gendre, Kumaran Deiva, Emilien Delmont, Bruno Francou, Steeve Genestet, Thierry Kuntzer, Philippe Latour, Gwendal Le Masson, Laurent Magy, Clotilde Nardin, François Ochsner, Guilhem Sole, Tanya Stojkovic, Thierry Maisonobe, Céline Tard, Peter Van den Berghe, Andoni Echaniz-Laguna
Charcot-Marie-Tooth disease misdiagnosed as chronic inflammatory demyelinating polyradiculoneuropathy: An international multicentric retrospective study. European journal of neurology 28 (9) (2021)
Suzan Boutary, Marie Caillaud, Mévidette El Madani, Jean-Michel Vallat, Julien Loisel-Duwattez, Alice Rouyer, Laurence Richard, Céline Gracia, Giorgia Urbinati, Didier Desmaële, Andoni Echaniz-Laguna, David Adams, Patrick Couvreur, Michael Schumacher, Charbel Massaad, Liliane Massaad-Massade
Squalenoyl siRNA PMP22 nanoparticles are effective in treating mouse models of Charcot-Marie-Tooth disease type 1 A. Communications biology 4 (1) (2021)
Marie Subréville, Nathalie Bonello-Palot, Douniazed Yahiaoui, Sadia Beloribi-Djefaflia, Sara Fernandes, Tanya Stojkovic, Julien Cassereau, Yann Péréon, Andoni Echaniz-Laguna, Marie-Hélène Violleau, Antoine Soulages, Sarah Léonard Louis, Marion Masingue, Armelle Magot, Emilien Delmont, Sabrina Sacconi, David Adams, Céline Labeyrie, Steeve Genestet, Jean-Baptiste Noury, Jean-Baptiste Chanson, Nicolas Lévy, Raul Juntas-Morales, Céline Tard, Guilhem Sole, Shahram Attarian
Genotype-phenotype correlation in French patients with myelin protein zero gene-related inherited neuropathy. European journal of neurology 28 (9) (2021)
Andoni Echaniz-Laguna, Xavière Lornage, Pascal Laforêt, Mette C Orngreen, Evelina Edelweiss, Guy Brochier, Mai T Bui, Roberto Silva-Rojas, Catherine Birck, Béatrice Lannes, Norma B Romero, John Vissing, Jocelyn Laporte, Johann Böhm
A New Glycogen Storage Disease Caused by a Dominant PYGM Mutation. Annals of neurology 88 (2) (2020)
Andoni Echaniz-Laguna, Jean-Marie Cuisset, Lucie Guyant-Marechal, Patrick Aubourg, Laurent Kremer, Naziha Baaloul, Alain Verloes, Kouider Beladgham, Jimmy Perrot, Bruno Francou, Philippe Latour
Giant axonal neuropathy: a multicenter retrospective study with genotypic spectrum expansion. Neurogenetics 21 (1) (2019)
Andoni Echaniz-Laguna, Yann Nadjar, Anthony Béhin, Valérie Biancalana, Monique Piraud, Edoardo Malfatti, Pascal Laforêt
Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study. Journal of inherited metabolic disease 42 (5) (2019)
Andoni Echaniz-Laguna, Philippe Latour
A cryptic splicing mutation in the INF2 gene causing Charcot-Marie-Tooth disease with minimal glomerular dysfunction. Journal of the peripheral nervous system : JPNS 24 (1) (2019)

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Publication Activity (10 Years)

Top Topics

Top Venues

Andoni Echaniz-Laguna