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Page 1
Missense variants in TUBA4A cause myo-tubulinopathies.
Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, van Beek R, Gardeitchik T, Kamsteeg EJ, Medici E, Donker Kaat L, Nemoto J, Komaki H, Okabe T, Kimoto Y, Tokito T, Nakanowatari M, Oya Y, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Genetti CA, Valivullah ZM, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Milic Rasic V, Kovacevic G, Kosac A, Moreno CAM, Gontijo Camelo C, Zanoteli E, Habib C, Fahey MC, Beggs AH, Poulsen NS, Vissing J, Straub V, Savarese M, Tasca G, Voermans NC, Laing NG, Udd B, Nishino I, Ravenscroft G. Johari M, et al. Among authors: martin negrier ml. Brain. 2026 Feb 12:awag059. doi: 10.1093/brain/awag059. Online ahead of print. Brain. 2026. PMID: 41678358
Glucocorticoid-induced myopathy: a comprehensive review.
Géfard-Gontier E, Le Quang M, Martin-Négrier ML, Violleau MH, Solé G, Mathis S. Géfard-Gontier E, et al. Among authors: martin negrier ml. J Neurol. 2025 Oct 28;272(11):734. doi: 10.1007/s00415-025-13482-6. J Neurol. 2025. PMID: 41148376 Review.
Missense variants in TUBA4A cause myo-tubulinopathies.
Johari M, Folland C, Saito Y, Oud MM, Parmar JM, Töpf A, Kurbatov S, Ampleeva M, Zakharova EY, Chekmareva IA, Shirokova KS, Atiakshin D, Gardeitchik T, Kamsteeg EJ, Medici E, Kaat LD, Bruels CC, Stafki SA, Estrella EA, Littel HR, Kunkel LM, Kang PB, Osei-Owusu I, Pais L, O'Leary M, Austin-Tse C, O'Donnell-Luria A, Mangilog B, Radio FC, D'Amico A, Ciolfi A, Tartaglia M, Perrin A, Van Goethem C, Sole G, Martin-Négrier ML, Cossée M, Genetti CA, Valivullah ZM, Milic V, Kovacevic G, Kosac A, Moreno CAM, Camelo CG, Zanoteli E, Fahey MC, Beggs AH, Vissing J, Straub V, Savarese M, Tasca G, Voermans N, Laing NG, Udd B, Nishino I, Ravenscroft G. Johari M, et al. Among authors: martin negrier ml. medRxiv [Preprint]. 2025 Jun 28:2025.06.26.25330266. doi: 10.1101/2025.06.26.25330266. medRxiv. 2025. Update in: Brain. 2026 Feb 12:awag059. doi: 10.1093/brain/awag059. PMID: 40666348 Free PMC article. Updated. Preprint.
History of the histopathology of the peripheral nerves.
Mathis S, Quang ML, Martin-Négrier ML, Vallat JM. Mathis S, et al. Among authors: martin negrier ml. Neuromuscul Disord. 2025 Jun;51:105393. doi: 10.1016/j.nmd.2025.105393. Epub 2025 May 23. Neuromuscul Disord. 2025. PMID: 40450414 Review.
Clinical and pathological aspects of toxic myopathies.
Le Quang M, Solé G, Martin-Négrier ML, Mathis S. Le Quang M, et al. Among authors: martin negrier ml. J Neurol. 2024 Sep;271(9):5722-5745. doi: 10.1007/s00415-024-12522-x. Epub 2024 Jun 21. J Neurol. 2024. PMID: 38907023 Review.
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C, Pion E, Chaussenot A, Bris C, Ait-El-Mkadem Saadi S, Desquiret-Dumas V, Gueguen N, Fragaki K, Amati-Bonneau P, Barcia G, Gaignard P, Steffann J, Pennisi A, Bonnefont JP, Lebigot E, Bannwarth S, Francou B, Rucheton B, Sternberg D, Martin-Negrier ML, Trimouille A, Hardy G, Allouche S, Acquaviva-Bourdain C, Pagan C, Lebre AS, Reynier P, Cossee M, Attarian S, Paquis-Flucklinger V; MitoDiag's Network Collaborators; Procaccio V. Rouzier C, et al. Among authors: martin negrier ml. Ann Clin Transl Neurol. 2024 Jun;11(6):1478-1491. doi: 10.1002/acn3.52062. Epub 2024 May 4. Ann Clin Transl Neurol. 2024. PMID: 38703036 Free PMC article.
Normal meninges harbor oncogenic somatic mutations in meningioma-driver genes.
Boetto J, Plu I, Ducos Y, Blouin A, Teranishi Y; Brainbank Neuro-CEB Neuropathology Network; Bizzotto S, Kalamarides M, Peyre M. Boetto J, et al. Acta Neuropathol. 2023 Dec;146(6):833-835. doi: 10.1007/s00401-023-02635-4. Epub 2023 Sep 26. Acta Neuropathol. 2023. PMID: 37750907 No abstract available.
Mutation on MT-CO2 gene induces mitochondrial disease associated with neurodegeneration and intracerebral iron accumulation (NBIA).
Courtois S, Angelini C, M Durand C, Dias Amoedo N, Courreges A, Dumon E, Le Quang M, Goizet C, Martin-Negrier ML, Rossignol R, Lacombe D, Coupry I, Trimouille A. Courtois S, et al. Among authors: martin negrier ml. Biochim Biophys Acta Mol Basis Dis. 2024 Jan;1870(1):166856. doi: 10.1016/j.bbadis.2023.166856. Epub 2023 Aug 26. Biochim Biophys Acta Mol Basis Dis. 2024. PMID: 37640115 Free article.
60 results