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Year | Number of Results |
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2016 | 2 |
2018 | 1 |
2019 | 1 |
2020 | 1 |
2022 | 1 |
2024 | 1 |
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TIA1 variant drives myodegeneration in multisystem proteinopathy with SQSTM1 mutations.
J Clin Invest. 2018 Mar 1;128(3):1164-1177. doi: 10.1172/JCI97103. Epub 2018 Feb 19.
J Clin Invest. 2018.
PMID: 29457785
Free PMC article.
Motor and respiratory decline in patients with late onset Pompe disease after cessation of enzyme replacement therapy during COVID-19 pandemic.
Tard C, Salort-Campana E, Michaud M, Spinazzi M, Nadaj Pakleza A, Durr H, Bouhour F, Lefeuvre C, Thomas R, Arrassi A, Taouagh N; Pompe Study Group; Solé G, Laforêt P.
Tard C, et al.
Eur J Neurol. 2022 Apr;29(4):1181-1186. doi: 10.1111/ene.15222. Epub 2022 Jan 8.
Eur J Neurol. 2022.
PMID: 34927321
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ATP7A mutation with occipital horns and distal motor neuropathy: A continuum.
Fradin M, Lavillaureix A, Jaillard S, Quelin C, Sauleau P, Minot MC, Menard D, Edan G, Ceballos I, Treguier C, Proisy M, Magdelaine C, Lia AS, Odent S, Pasquier L.
Fradin M, et al. Among authors: minot mc.
Eur J Med Genet. 2020 Dec;63(12):104087. doi: 10.1016/j.ejmg.2020.104087. Epub 2020 Oct 31.
Eur J Med Genet. 2020.
PMID: 33137485
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The DM-scope registry: a rare disease innovative framework bridging the gap between research and medical care.
De Antonio M, Dogan C, Daidj F, Eymard B, Puymirat J, Mathieu J, Gagnon C, Katsahian S; Filnemus Myotonic Dystrophy Study Group; Hamroun D, Bassez G.
De Antonio M, et al.
Orphanet J Rare Dis. 2019 Jun 3;14(1):122. doi: 10.1186/s13023-019-1088-3.
Orphanet J Rare Dis. 2019.
PMID: 31159885
Free PMC article.
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The transcription coactivator ASC-1 is a regulator of skeletal myogenesis, and its deficiency causes a novel form of congenital muscle disease.
Davignon L, Chauveau C, Julien C, Dill C, Duband-Goulet I, Cabet E, Buendia B, Lilienbaum A, Rendu J, Minot MC, Guichet A, Allamand V, Vadrot N, Fauré J, Odent S, Lazaro L, Leroy JP, Marcorelles P, Dubourg O, Ferreiro A.
Davignon L, et al. Among authors: minot mc.
Hum Mol Genet. 2016 Apr 15;25(8):1559-73. doi: 10.1093/hmg/ddw033. Epub 2016 Feb 9.
Hum Mol Genet. 2016.
PMID: 27008887
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Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.
Dogan C, De Antonio M, Hamroun D, Varet H, Fabbro M, Rougier F, Amarof K, Arne Bes MC, Bedat-Millet AL, Behin A, Bellance R, Bouhour F, Boutte C, Boyer F, Campana-Salort E, Chapon F, Cintas P, Desnuelle C, Deschamps R, Drouin-Garraud V, Ferrer X, Gervais-Bernard H, Ghorab K, Laforet P, Magot A, Magy L, Menard D, Minot MC, Nadaj-Pakleza A, Pellieux S, Pereon Y, Preudhomme M, Pouget J, Sacconi S, Sole G, Stojkovich T, Tiffreau V, Urtizberea A, Vial C, Zagnoli F, Caranhac G, Bourlier C, Riviere G, Geille A, Gherardi RK, Eymard B, Puymirat J, Katsahian S, Bassez G.
Dogan C, et al. Among authors: minot mc.
PLoS One. 2016 Feb 5;11(2):e0148264. doi: 10.1371/journal.pone.0148264. eCollection 2016.
PLoS One. 2016.
PMID: 26849574
Free PMC article.
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Real-life effectiveness 1 year after switching to avalglucosidase alfa in late-onset Pompe disease patients worsening on alglucosidase alfa therapy: A French cohort study.
Tard C, Bouhour F, Michaud M, Beltran S, Fournier M, Demurger F, Lagrange E, Nollet S, Sacconi S, Noury JB, Magot A, Cintas P, Renard D, Deibener-Kaminsky J, Lefeuvre C, Davion JB, Salort-Campana E, Arrassi A, Taouagh N, Spinazzi M; Pompe Study Group; Attarian S, Laforêt P.
Tard C, et al.
Eur J Neurol. 2024 Apr 8:e16292. doi: 10.1111/ene.16292. Online ahead of print.
Eur J Neurol. 2024.
PMID: 38587143
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