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Biallelic mutations in SORD cause a common and potentially treatable hereditary neuropathy with implications for diabetes
Cortese A, Zhu Y, Rebelo AP, et al.
Nature genetics, 2020, 52, 5, p 473
Systematic retrospective study on 64 patients anti-Mi2 dermatomyositis: a classic skin rash with a necrotizing myositis and high risk of malignancy
Monseau G, Landon-Cardinal O, Stenzel W, et al.
Journal of the American Academy of Dermatology, 2020
Expanding the spectrum of HIV-associated myopathy
Landon-Cardinal O, Gallay L, Dubourg O, et al.
Journal of neurology, neurosurgery, and psychiatry, 2019
Muscular dystrophy with arrhythmia caused by loss-of-function mutations in BVES
De Ridder W, Nelson I, Asselbergh B, et al.
Neurology. Genetics, 2019, 5, 2
Immune checkpoint inhibitor-related myositis and myocarditis in patients with cancer
Touat M, Touat M, Maisonobe T, et al.
Neurology, 2018, 91, 10, e985
Antineoplastic agents exacerbating Charcot Marie Tooth disease: red flags to avoid permanent disability
Ibanez-Julia MJ, Berzero G, Reyes-Botero G, et al.
Acta oncologica (Stockholm, Sweden), 2018, 57, 3, p 403
Rigid spine syndrome associated with sensory-motor axonal neuropathy resembling Charcot-Marie-Tooth disease is characteristic of BAG3 gene mutations even without cardiac involvement
Noury JB, Maisonobe T, Richard P, et al.
Muscle & Nerve, 2018, 57, 2, p 330
Necrosis in anti-SRP+ and anti-HMGCR+ myopathies: Role of autoantibodies and complement
Allenbach Y, Arouche-Delaperche L, Preusse C, et al.
Neurology, 2018, 90, 6, p 507
Encephalopathy associated with a reversible splenial lesion in riboflavin-responsive multiple acyl-CoA dehydrogenase deficiency
Touat M, Touat M, Michaud M, et al.
Revue neurologique, 2018, 174, 10, p 747
Phenotypic spectrum of Charcot-Marie-Tooth disease due to LITAF/SIMPLE mutations: a study of 18 patients
Guimaraes-Costa R, Iancu Ferfoglia R, Leonard-Louis S, et al.
European journal of neurology, 2017, 24, 3, p 530
Axonal Neuropathies due to Mutations in Small Heat Shock Proteins: Clinical, Genetic, and Functional Insights into Novel Mutations
Echaniz-Laguna A, Geuens T, Petiot P, et al.
Human mutation, 2017, 38, 5, p 556
Downregulation of myostatin pathway in neuromuscular diseases may explain challenges of anti-myostatin therapeutic approaches
Mariot V, Joubert R, Hourde C, et al.
Nature communications, 2017, 8, 1
Le top 5 de la pathologie neuromusculaire : Le début d'une nouvelle ère dans les neuropathies dysimmunitaires
Mekies C, Maisonobe T
Neurologies, 2016, 19, 186, p 80
Variants in the Oxidoreductase PYROXD1 Cause Early-Onset Myopathy with Internalized Nuclei and Myofibrillar Disorganization
O'Grady GL, Best HA, Sztal TE, et al.
American journal of human genetics, 2016, 99, 5, p 1086
Dermatomyositis With or Without Anti-Melanoma Differentiation-Associated Protein 5 Antibodies: Common Interferon Signature but Distinct NOS2 Expression
Allenbach Y, Leroux G, Calvet XS, et al.
The American journal of pathology, 2016, 186, 3, p 691
Correlation between low FAT1 expression and early affected muscle in Facioscapulohumeral Muscular Dystrophy
Mariot V, Roche S, Hourde C, et al.
Annals of neurology, 2015, 78, 3, p 387
Anti-Jo-1 antibody-positive patients show a characteristic necrotizing perifascicular myositis
Mescam-Mancini L, Allenbach Y, Hervier B, et al.
Brain : a journal of neurology, 2015, 138, Pt9, p 2485
A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
Tchikviladzé M, Gilleron M, Maisonobe T, et al.
Journal of neurology, neurosurgery and psychiatry, 2015, 86, 6, p 646
Myofibrillar myopathies: State of the art, present and future challenges
Behin A, Salort-Campana E, Wahbi K, et al.
Revue neurologique, 2015, 171, 10, p 715
Où l'électromyographie à l'aiguille apporte encore des renseignements décisifs et troublants...
Bouche P, Maisonobe T
Lettre du neurologue Nerf et Muscle (La), 2014, XVIII, 10, p. 387-390
Th1 response and systemic treg deficiency in inclusion body myositis
Allenbach Y, Chaara W, Rosenzwajg M, et al.
PLoS ONE, 2014, 9, 3, e88788, p. 1-8
Myofiber HLA-DR expression is a distinctive biomarker for antisynthetase-associated myopathy
Aouizerate J, De Antonio M, Bassez G, et al.
Acta neuropathologica communications, 2014, 2
Adult-onset autosomal dominant centronuclear myopathy due to BIN1 mutations.
Böhm J, Biancalana V, Malfatti E, et al.
Brain : a journal of neurology, 2014, 137, 12, p 3160
Testing the validity of a set of diagnostic criteria for sensory neuronopathies: a francophone collaborative study
Antoine JC, Robert-Varvat F, Maisonobe T, et al.
Journal of neurology, 2014, 261, 11, p 2093
Chronic inflammatory demyelinating polyradiculoneuropathy: search for factors associated with treatment dependence or successful withdrawal
Rabin M, Mutlu G, Stojkovic T, et al.
Journal of neurology, neurosurgery, and psychiatry, 2014, 85, 8, p 901
