Fanny Mochel (F Mochel)

Publication Activity (10 Years)

Years Active: 2017-2024
Publications (10 Years): 21

Top Topics

Diffusion Weighted Imaging

Botulinum Toxin

Top Venues

Journal of neurology, neurosurgery, and psychiatry

Journal of inherited metabolic disease

AJNR. American journal of neuroradiology

Neurology. Genetics

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

Publications

Thiago Junqueira Ribeiro de Rezende, Isaac Adanyaguh, Orlando G P Barsottini, Benjamin Bender, Fernando Cendes, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Juan Fernandez-Ruiz, Sophia L Göricke, Marina Grisoli, Carlos R Hernandez-Castillo, Christophe Lenglet, Caterina Mariotti, Alberto Rolim Muro Martinez, Breno K Massuyama, Fanny Mochel, Lorenzo Nanetti, Anna Nigri, Sergio E Ono, Gülin Öz, José Luiz Pedroso, Kathrin Reetz, Matthis Synofzik, Helio Teive, Sophia I Thomopoulos, Paul M Thompson, Dagmar Timmann, Bart P C van de Warrenburg, Judith van Gaalen, Marcondes Cavalcante de França Junior, Ian H Harding
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study. Journal of neurology, neurosurgery, and psychiatry 95 (7) (2024)
Thiago Junqueira Ribeiro de Rezende, Isaac Adanyaguh, Orlando G P Barsottini, Benjamin Bender, Fernando Cendes, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Juan Fernandez-Ruiz, Sophia L Göricke, Marina Grisoli, Carlos R Hernandez-Castillo, Christophe Lenglet, Caterina Mariotti, Alberto Rolim Muro Martinez, Breno K Massuyama, Fanny Mochel, Lorenzo Nanetti, Anna Nigri, Sergio E Ono, Gülin Öz, José Luiz Pedroso, Kathrin Reetz, Matthis Synofzik, Helio Teive, Sophia I Thomopoulos, Paul M Thompson, Dagmar Timmann, Bart P C van de Warrenburg, Judith van Gaalen, Marcondes Cavalcante de França Junior, Ian H Harding
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study. Journal of neurology, neurosurgery, and psychiatry 95 (7) (2024)
Thiago Junqueira Ribeiro de Rezende, Isaac Adanyaguh, Orlando G P Barsottini, Benjamin Bender, Fernando Cendes, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Juan Fernandez-Ruiz, Sophia L Göricke, Marina Grisoli, Carlos R Hernandez-Castillo, Christophe Lenglet, Caterina Mariotti, Alberto Rolim Muro Martinez, Breno K Massuyama, Fanny Mochel, Lorenzo Nanetti, Anna Nigri, Sergio E Ono, Gülin Öz, José Luiz Pedroso, Kathrin Reetz, Matthis Synofzik, Helio Teive, Sophia I Thomopoulos, Paul M Thompson, Dagmar Timmann, Bart P C van de Warrenburg, Judith van Gaalen, Marcondes Cavalcante de França Junior, Ian H Harding
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study. Journal of neurology, neurosurgery, and psychiatry (2024)
Thiago Junqueira Ribeiro de Rezende, Isaac Adanyaguh, Orlando G P Barsottini, Benjamin Bender, Fernando Cendes, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Juan Fernandez-Ruiz, Sophia L Göricke, Marina Grisoli, Carlos R Hernandez-Castillo, Christophe Lenglet, Caterina Mariotti, Alberto Rolim Muro Martinez, Breno K Massuyama, Fanny Mochel, Lorenzo Nanetti, Anna Nigri, Sergio E Ono, Gülin Öz, José Luiz Pedroso, Kathrin Reetz, Matthis Synofzik, Helio Teive, Sophia I Thomopoulos, Paul M Thompson, Dagmar Timmann, Bart P C van de Warrenburg, Judith van Gaalen, Marcondes Cavalcante de França Junior, Ian H Harding
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study. Journal of neurology, neurosurgery, and psychiatry 95 (7) (2024)
Fanny Mochel
What can pediatricians learn from adult inherited metabolic diseases? Journal of inherited metabolic disease (2024)
Thiago Junqueira Ribeiro de Rezende, Isaac Adanyaguh, Orlando G P Barsottini, Benjamin Bender, Fernando Cendes, Léo Coutinho, Andreas Deistung, Imis Dogan, Alexandra Durr, Juan Fernandez-Ruiz, Sophia L Göricke, Marina Grisoli, Carlos R Hernandez-Castillo, Christophe Lenglet, Caterina Mariotti, Alberto Rolim Muro Martinez, Breno K Massuyama, Fanny Mochel, Lorenzo Nanetti, Anna Nigri, Sergio E Ono, Gülin Öz, José Luiz Pedroso, Kathrin Reetz, Matthis Synofzik, Helio Teive, Sophia I Thomopoulos, Paul M Thompson, Dagmar Timmann, Bart P C van de Warrenburg, Judith van Gaalen, Marcondes Cavalcante de França Junior, Ian H Harding
Genotype-specific spinal cord damage in spinocerebellar ataxias: an ENIGMA-Ataxia study. Journal of neurology, neurosurgery, and psychiatry 95 (7) (2024)
Carlos R Hernandez-Castillo, R Diaz, Thiago Junqueira Ribeiro de Rezende, Isaac M Adanyeguh, Ian H Harding, Fanny Mochel, Juan Fernandez-Ruiz
Cervical Spinal Cord Degeneration in Spinocerebellar Ataxia Type 7. AJNR. American journal of neuroradiology 42 (9) (2021)
Patricia Morejon-Garcia, Boris Keren, Íñigo Marcos-Alcalde, Paulino Gómez-Puertas, Fanny Mochel, Pedro A Lazo
Dysfunctional Homozygous VRK1-D263G Variant Impairs the Assembly of Cajal Bodies and DNA Damage Response in Hereditary Spastic Paraplegia. Neurology. Genetics 7 (5) (2021)
Benoit Rucheton, Claire Ewenczyk, Pauline Gaignard, Jean-Madeleine de Sainte Agathe, Anne-Laure Fauret, Virginie Saillour, Sarah Leonard-Louis, Valérie Touitou, Fanny Mochel
Adult Cerebellar Ataxia, Axonal Neuropathy, and Sensory Impairments Caused by Biallelic SCO2 Variants. Neurology. Genetics 7 (6) (2021)
Claire Pujol, Anne Legrand, Livia Parodi, Priscilla Thomas, Fanny Mochel, Dario Saracino, Giulia Coarelli, Marijana Croon, Milica Popovic, Manon Valet, Nicolas Villain, Shahira Elshafie, Mahmoud Y Issa, Stéphane Zuily, Mathilde Renaud, Cécilia Marelli-Tosi, Marine Legendre, Aurélien Trimouille, Isabelle Kemlin, Sophie Mathieu, Joseph G Gleeson, Foudil Lamari, Daniele Galatolo, Rana Alkouri, Chantal Tse, Diana Rodriguez, Claire Ewenczyk, Florence Fellmann, Thierry Kuntzer, Emilie Blond, Khalid Hamid El Hachimi, Frédéric Darios, Alexandre Seyer, Anastasia D Gazi, Patrick Giavalisco, Silvina Perin, Jean-Luc Boucher, Laurent Le Corre, Filippo Maria Santorelli, Cyril Goizet, Maha Saad Zaki, Serge Picaud, Arnaud Mourier, Sophie Marie Steculorum, Mignot Cyril, Alexandra Dürr, Aleksandra Trifunovic, Giovanni Stevanin
Implication of folate deficiency in CYP2U1 loss of function. The Journal of experimental medicine 218 (11) (2021)
M G Bah, Diana Rodriguez, C Cazeneuve, Fanny Mochel, David Devos, Agnese Suppiej, Agathe Roubertie, Isabelle Meunier, Cyril Gitiaux, Aurore Curie, F Klapczynski, N Allani-Essid, M Carneiro, R Van Minkelen, Anneke J A Kievit, Joël Fluss, B Leheup, Ilham Ratbi, D Héron, D Gras, Jeremy Do Cao, S Pichard, I Strubi-Villaume, Isabelle Audo, Gaëtan Lesca, Perrine Charles, F Dubois, P Comet-Didierjean, Y Capri, C Barondiot, M Barathon, Claire Ewenczyk, Alexandra Dürr, Mignot Cyril
Deciphering the natural history of SCA7 in children. European journal of neurology 27 (11) (2020)
Fanny Mochel, Cécile Delorme, Virginie Czernecki, Jerome Froger, Florence Cormier, Emmanuel Ellie, Nathalie Fegueux, Stéphane Lehéricy, Serge Lumbroso, Raphael Schiffmann, Patrick Aubourg, Emmanuel Roze, Pierre Labauge, Stephanie Nguyen
Haematopoietic stem cell transplantation in CSF1R-related adult-onset leukoencephalopathy with axonal spheroids and pigmented glia. Journal of neurology, neurosurgery, and psychiatry 90 (12) (2019)
Elodie Hainque, Domitille Gras, Aurélie Meneret, Mariana Atencio, Marie-Pierre Luton, Magali Barbier, Mohamed Doulazmi, Florence Habarou, Chris Ottolenghi, Emmanuel Roze, Fanny Mochel
Long-term follow-up in an open-label trial of triheptanoin in GLUT1 deficiency syndrome: a sustained dramatic effect. Journal of neurology, neurosurgery, and psychiatry 90 (11) (2019)
L Saint-Val, Thomas Courtin, Perrine Charles, C Verny, Martin Catala, Raphael Schiffmann, Odile Boespflug-Tanguy, Fanny Mochel
GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination. AJNR. American journal of neuroradiology 40 (5) (2019)
Elodie Hainque, Aurélie Meneret, Domitille Gras, Mariana Atencio, Marie-Pierre Luton, Magali Barbier, Anne De Saint Martin, Thierry Billette de Villemeur, Chris Ottolenghi, Emmanuel Roze, Fanny Mochel
Transition from ketogenic diet to triheptanoin in patients with GLUT1 deficiency syndrome. Journal of neurology, neurosurgery, and psychiatry 91 (4) (2019)
Fanny Mochel
Lipids and synaptic functions. Journal of inherited metabolic disease 41 (6) (2018)
Maria Del Mar Amador, Benoit Colsch, Foudil Lamari, Claude Jardel, Farid Ichou, Agnès Rastetter, Frédéric Sedel, Fabien Jourdan, Clément Frainay, Ronald A Wevers, Emmanuel Roze, Christel Depienne, Christophe Junot, Fanny Mochel
Targeted versus untargeted omics - the CAFSA story. Journal of inherited metabolic disease 41 (3) (2018)
Maria Del Mar Amador, Marion Masingue, Rabab Debs, Foudil Lamari, Vincent Perlbarg, Emmanuel Roze, Bertrand Degos, Fanny Mochel
Treatment with chenodeoxycholic acid in cerebrotendinous xanthomatosis: clinical, neurophysiological, and quantitative brain structural outcomes. Journal of inherited metabolic disease 41 (5) (2018)
Jean-Marie Saudubray, Fanny Mochel
The phenotype of adult versus pediatric patients with inborn errors of metabolism. Journal of inherited metabolic disease 41 (5) (2018)
Pekes Codjia, Xavier Ayrignac, Fanny Mochel, Kevin Mouzat, Clarisse Carra Dallière, Giovanni Castelnovo, E Ellie, F Etcharry-Bouyx, C Verny, S Belliard, D Hannequin, Cécilia Marelli-Tosi, Yann Nadjar, Isabelle L E Ber, I Dorboz, S Samaan, Odile Boespflug-Tanguy, S Lumbroso, Pierre M Labauge
Adult-Onset Leukoencephalopathy with Axonal Spheroids and Pigmented Glia: An MRI Study of 16 French Cases. AJNR. American journal of neuroradiology 39 (9) (2018)
Fanny Mochel
Triheptanoin for the treatment of brain energy deficit: A 14-year experience. Journal of neuroscience research 95 (11) (2017)