Gorka Fernandez-Eulate - Hopital La Pitie Salpetriere (Groupe Hospitalier "La Pitie Salpetriere - Charles Foix")

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论文共 57 篇作者统计合作学者相似作者

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MOTOR NEUROPATHY AND CEREBRAL FOLATE DEFICIENCY: A NEW SYNDROME

Daniele Mandia,Metodi Metodiev, Jean-Francois Benoist, Pauline Gaignard,Stephan Zuchner,Danique Beijer,Gorka Fernandez-Eulate,Agnes Rotig,Foudil Lamari,Benoit Rucheton,Cecile Rouzier, Samira Ait-El-Mkadem Saadi,Pascal Cintas,Julien Maquet,Marion Masingue,Natalia Shor,Yann Nadjar

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S160-S161

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DEFINING THE LANDSCAPE OF TIA1 AND SQSTM1 DIGENIC MYOPATHY

Paula Panos-Basterra,Julian Theuriet,Aleksandra Nadaj-Pakleza,Armelle Magot,Beatrice Lannes, Pascale Marcorelles,Anthony Behin,Marion Masingue,Florence Caillon, Yannis Malek,Tanguy Fenouil, Joaquim Bas,Rita Menassa,Laurence Michel-Calemard,Nathalie Streichenberger, Jean-Philippe Simon,Francoise Bouhour,Teresinha Evangelista,Corinne Metay,Antoine Pegat,Tanya Stojkovic,Gorka Fernandez-Eulate

Neuromuscular Disorders (2024): 43-52

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Genetic Characterization of Non-5Q Proximal Spinal Muscular Atrophy in a French Cohort: the Place of Whole Exome Sequencing

Julian Theuriet,Gorka Fernandez-Eulate,Philippe Latour,Tanya Stojkovic,Marion Masingue,Léo Vidoni,Emilien Bernard,Arnaud Jacquier,Laurent Schaeffer,Emmanuelle Salort-Campana,Jean-Baptiste Chanson,Aleksandra Nadaj Pakleza,Anne-Laure Kaminsky,Juliette Svahn,Véronique Manel,Françoise Bouhour,Antoine Pegat

EUROPEAN JOURNAL OF HUMAN GENETICSno. 1 (2024): 37-43

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Phenotype Variability and Natural History of X-linked Myopathy with Excessive Autophagy

Gorka Fernández-Eulate,Girolamo Alfieri,Marco Spinazzi, Isabelle Ackermann-Bonan,Fanny Duval,Guilhem Solé,Florence Caillon,Sandra Mercier,Yann Pereon,Armelle Magot,Antoine Pegat,Emmanuelle Salort-Campana,Brigitte Chabrol,Svetlana Gorokhova,Martin Krahn,Valerie Biancalana,Teresinha Evangelista,Anthony Behin,Corinne Metay,Tanya Stojkovic

Journal of Neurologypp.1-11, (2024)

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Role of the Repeat Expansion Size in Predicting Age of Onset and Severity in RFC1 Disease

Riccardo Curro,Natalia Dominik,Stefano Facchini,Elisa Vegezzi,Roisin Sullivan,Valentina Galassi Deforie,Gorka Fernandez-Eulate,Andreas Traschuetz,Salvatore Rossi,Matteo Garibaldi,Mariusz Kwarciany,Franco Taroni,Alfredo Brusco,Jean-Marc Good,Francesca Cavalcanti,Simon Hammans,Gianina Ravenscroft,Richard H. Roxburgh,Ricardo Parolin Schnekenberg,Bianca Rugginini,Elena Abati,Arianna Manini,Ilaria Quartesan, Arianna Ghia,Adolfo Lopez de Munain,Fiore Manganelli,Marina Kennerson,Filippo Maria Santorelli,Jon Infante,Wilson Marques,Manu Jokela,Sinead M. Murphy,Paola Mandich,Gian Maria Fabrizi,Chiara Briani,David Gosal,Davide Pareyson, Alberto Ferrari,Ferran Prados,Tarek Yousry,Vikram Khurana,Sheng-Han Kuo,James Miller,Claire Troakkes,Zane Jaunmuktane,Paola Giunti,Annette Hartmann,Nazli Basak,Matthis Synofzik,Tanya Stojkovic,Marios Hadjivassiliou,Mary M. Reilly,Henry Houlden,Andrea Cortese

BRAINno. 5 (2024): 1887-1898

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Marie Bahout,Gianmarco Severa, Emna Kamoun,Françoise Bouhour,Antoine Pegat,Annick Toutain,Emmeline Lagrange,Fanny Duval, Celine Tard, Elisa De la Cruz, Léonard Féasson, Agnès Jacquin-Piques, Pascale Richard,Corinne Métay, Michele Cavalli,Norma Beatriz Romero,Teresinha Evangelista,Guilhem Sole,Robert Yves Carlier,Pascal Laforêt,Blandine Acket, Anthony Behin,Gorka Fernández-Eulate,Sarah Léonard-Louis, Susana Quijano-Roy,Yann Pereon,Emmanuelle Salort-Campana,Aleksandra Nadaj-Pakleza,Marion Masingue,Edoardo Malfatti,Tanya Stojkovic,Rocío Nur Villar-Quiles

Journal of neurology, neurosurgery, and psychiatry (2024)

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CLINICAL AND GENETIC SPECTRUM OF PATIENTS WITH BAG3-RELATED NEUROMUSCULAR DISORDERS IN EUROPE

Gorka Fernandez-Eulate,Cyril Gitiaux,Simone Thiele, Heinz Jungbluth, Frederique Audic,Anna Potulska-Chromik,Chiara Marini-Bettolo,Jean Baptiste Davion,German Moris de la Tassa,Montse Olive, Carlos Pablo de Fuenmayor-Fernandez de la Hoz,Arnaud Isapof,Ana Topf, Maggie Walter,Corrado Angelini,Kristl Claeys,Anna Kostera-Pruszczyk,Shahram Attarian,Volker Straub,Cristina Dominguez-Gonzalez,John Vissing,Corinne Metay, Diala Khraiche,Karim Wahbi,Tanya Stojkovic

JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM (2024): S20-S21

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Le Syndrome LHIPFOLD : Une Nouvelle Cause Traitable De Leucopathie Cérébrale Diffuse De L’adulte Associée À Un Déficit Profond En Folate Intrathécal

Daniele Mandia, Metodi Metodiev,Jean-François Benoist,Pauline Gaignard,Gorka Fernandez-Eulate,Marion Masingue,Natalia Shor,Yann Nadjar

Revue Neurologique (2024)

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A CCG Expansion in ABCD3 Causes Oculopharyngodistal Myopathy in Individuals of European Ancestry

Andrea Cortese,Sarah J. Beecroft,Stefano Facchini,Riccardo Curro,Macarena Cabrera-Serrano,Igor Stevanovski,Sanjog R. Chintalaphani,Hasindu Gamaarachchi,Ben Weisburd,Chiara Folland,Gavin Monahan,Carolin K. Scriba,Lein Dofash,Mridul Johari,Bianca R. Grosz,Melina Ellis,Liam G. Fearnley,Rick Tankard,Justin Read,Ashirwad Merve,Natalia Dominik,Elisa Vegezzi,Ricardo P. Schnekenberg,Gorka Fernandez-Eulate,Marion Masingue,Diane Giovannini,Martin B. Delatycki,Elsdon Storey, Mac Gardner,David J. Amor,Garth Nicholson,Steve Vucic,Robert D. Henderson,Thomas Robertson,Jason Dyke,Vicki Fabian,Frank Mastaglia,Mark R. Davis,Marina Kennerson,Ros Quinlivan,Simon Hammans,Arianna Tucci,Melanie Bahlo,Catriona A. McLean,Nigel G. Laing,Tanya Stojkovic,Henry Houlden,Michael G. Hanna,Ira W. Deveson,Paul J. Lockhart,Phillipa J. Lamont,Michael C. Fahey,Enrico Bugiardini,Gianina Ravenscroft,Piraye Oflazer,Nazli A. Basak,Hulya Kayserili, Gozde Yesil,Edoardo Malfatti, James B. Lilliker,Matthew Wicklund,Robert D. S. Pitceathly,Stefen Brady,Bernard Brais,David Pellerin,Stephan Zuchner,Matt C. Danzi,Marina Grandis,Giacomo P. Comi,Stefania P. Corti,Elena Abati,Antonio Toscano,Arianna Manini, Arianna Ghia,Cristina Tassorelli,Ilaria Quartesan,Roberto Simone,Alexander M. Rossor,Mary M. Reilly,Liam Carroll,Volker Straub,Bjarne Udd,Zhiyong Chen,Gisele Bonne

NATURE COMMUNICATIONSno. 1 (2024)

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Dysregulated FOXO1 Activity Drives Skeletal Muscle Intrinsic Dysfunction in Amyotrophic Lateral Sclerosis

Mónica Zufiría, Oihane Pikatza-Menoio, Maddi Garciandia-Arcelus,Xabier Bengoetxea, Andrés Jiménez,Amaia Elicegui, María Levchuk, Olatz Arnold-García,Jon Ondaro,Pablo Iruzubieta, Laura Rodríguez-Gómez,Uxoa Fernández-Pelayo,Mikel Muñoz-Oreja,Ana Aiastui,José Manuel García-Verdugo,Vicente Herranz-Pérez,Miren Zulaica,Juan José Poza, Rebeca Ruiz-Onandi,Roberto Fernández-Torrón,Juan Bautista Espinal, Mario Bonilla, Ana Lersundi,Gorka Fernández-Eulate,Javier Riancho,Ainara Vallejo-Illarramendi,Ian James Holt,Amets Sáenz,Edoardo Malfatti,Stéphanie Duguez,Lorea Blázquez,Adolfo López de Munain,Gorka Gerenu,Francisco Gil-Bea, Sonia Alonso-Martín

ACTA NEUROPATHOLOGICA（2024）

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