Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My Custom Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1991 1
1994 1
1995 3
1996 2
1998 1
2002 1
2004 1
2005 1
2006 1
2008 3
2009 5
2010 2
2011 3
2012 2
2013 1
2014 4
2015 2
2017 1
2018 1
2019 2
2020 5
2021 6
2022 6
2023 3
2024 3
2025 3

Publication date

Text availability

Article attribute

Article type

Additional filters

Article Language

Species

Sex

Age

Other

Search Results

57 results

Results by year

Filters applied: . Clear all
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, 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. PMID: 40666348 Free PMC article. Preprint.
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.
Neurologic manifestations of giant cell arteritis.
Soulages A, Sibon I, Vallat JM, Ellie E, Bourdain F, Duval F, Carla L, Martin-Négrier ML, Solé G, Laurent C, Monnier A, Le Masson G, Mathis S. Soulages A, et al. Among authors: martin negrier ml. J Neurol. 2022 Jul;269(7):3430-3442. doi: 10.1007/s00415-022-10991-6. Epub 2022 Feb 6. J Neurol. 2022. PMID: 35124749 Review.
Peripheral neuropathy and livedoid vasculopathy.
Soulages A, Maisonobe T, Auzou P, Petit A, Allenbach Y, Barète S, Skopinski S, Ribeiro E, Jullié ML, Lamant L, Brevet F, Soulages X, Vallat JM, Martin-Négrier ML, Solé G, Duval F, Carla L, Le Masson G, Mathis S. Soulages A, et al. Among authors: martin negrier ml. J Neurol. 2022 Jul;269(7):3779-3788. doi: 10.1007/s00415-022-11007-z. Epub 2022 Feb 15. J Neurol. 2022. PMID: 35166926 Review.
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.
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.
Fasciitis secondary to systemic necrotizing vasculitis.
Prot-Leurent C, Martin-Negrier ML, Lazaro E, Delbrel X, Viallard JF. Prot-Leurent C, et al. Among authors: martin negrier ml. QJM. 2022 Mar 22;115(3):164-166. doi: 10.1093/qjmed/hcab308. QJM. 2022. PMID: 34878145 No abstract available.
An update on nerve biopsy.
Vallat JM, Vital A, Magy L, Martin-Negrier ML, Vital C. Vallat JM, et al. Among authors: martin negrier ml. J Neuropathol Exp Neurol. 2009 Aug;68(8):833-44. doi: 10.1097/NEN.0b013e3181af2b9c. J Neuropathol Exp Neurol. 2009. PMID: 19606069 Review.
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.
Adult onset tubulo-interstitial nephropathy in MT-ND5-related phenotypes.
Bakis H, Trimouille A, Vermorel A, Redonnet I, Goizet C, Boulestreau R, Lacombe D, Combe C, Martin-Négrier ML, Rigothier C. Bakis H, et al. Among authors: martin negrier ml. Clin Genet. 2020 Apr;97(4):628-633. doi: 10.1111/cge.13670. Epub 2020 Jan 9. Clin Genet. 2020. PMID: 31713837
57 results