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Page 1
In inflammatory myopathies, dropped head/bent spine syndrome is associated with scleromyositis: an international case-control study.
Pijnenburg L, Giannini M, Bouchard-Marmen M, Arnaud L, Barsotti S, Bellando-Randone S, Bernardi L, Bini P, Blagojevic J, Codullo V, Couderc M, De Moreuil C, Dernis E, Diamanti L, Dubost JJ, Duval F, Emmi G, Galempoix JM, Geny B, Gottenberg JE, Groza M, Guffroy A, Guichard I, Guilpain P, Hervier B, Hudson M, Iaccarino L, Iannone F, Lebrun D, Marchioni E, Mariampillai K, Maurier F, Mosca M, Nadaj-Pakleza A, Nannini C, Piot JM, Prieto-González S, Poursac N, Rouanet E, Sellam J, Selva-O'Callaghan A, Séverac F, Sibilia J, Sole G, Soulages A, Terrier B, Tournadre A, Troyanov Y, Vernier N, Vesperini V, Viallard JF, Ziane R, Cavagna L, Meyer A. Pijnenburg L, et al. Among authors: sole g. RMD Open. 2023 Sep;9(3):e003081. doi: 10.1136/rmdopen-2023-003081. RMD Open. 2023. PMID: 37666644 Free PMC article.
SMCHD1 genetic variants in type 2 facioscapulohumeral dystrophy and challenges in predicting pathogenicity and disease penetrance.
Gérard L, Delourme M, Tardy C, Ganne B, Perrin P, Chaix C, Trani JP, Eudes N, Laberthonnière C, Bertaux K, Missirian C, Bassez G, Behin A, Cintas P, Cluse F, De La Cruz E, Delmont E, Evangelista T, Fradin M, Hadouiri N, Kouton L, Laforêt P, Lefeuvre C, Magot A, Manel V, Nectoux J, Pegat A, Sole G, Spinazzi M, Stojkovic T, Svahn J, Tard C, Thauvin C, Verebi C, Salort Campana E, Attarian S, Nguyen K, Badache A, Bernard R, Magdinier F. Gérard L, et al. Among authors: sole g. Eur J Hum Genet. 2024 Dec 26. doi: 10.1038/s41431-024-01781-x. Online ahead of print. Eur J Hum Genet. 2024. PMID: 39725690
Spinal muscular atrophy is also a disorder of spermatogenesis.
Magot A, Reignier A, Binois O, Bedat-Millet AL, Davion JB, Debergé L, Ghorab K, Guyant L, Laheranne É, Laforet P, Lefeuvre C, Mallaret M, Michaud M, Omar C, Nadaj-Pakleza A, Nicolas G, Noury JB, Pegat A, Péré M, Salort-Campana E, Sole G, Spinazzi M, Tard C, Vuillerot C, Péréon Y. Magot A, et al. Among authors: sole g. Orphanet J Rare Dis. 2024 Dec 20;19(1):476. doi: 10.1186/s13023-024-03494-2. Orphanet J Rare Dis. 2024. PMID: 39707482 Free PMC article.
Phenotype-genotype correlation in X-linked Charcot-Marie-Tooth disease: A French cohort study.
Barbat du Closel L, Bonello-Palot N, Delmont E, Péréon Y, Echaniz-Laguna A, Camdessanché JP, Pakleza AN, Chanson JB, Frachet S, Magy L, Cassereau J, Cintas P, Choumert A, Devic P, Louis SL, Tard C, Solé G, Salort-Campana E, Bouhour F, Latour P, Stojkovic T, Attarian S. Barbat du Closel L, et al. Among authors: sole g. Eur J Neurol. 2025 Jan;32(1):e16523. doi: 10.1111/ene.16523. Epub 2024 Nov 21. Eur J Neurol. 2025. PMID: 39569692 Free PMC article.
[Laboratories directory: Mapping of the French neuromuscular research].
Kpalma G, Bonne G, Stojkovic T, Solé G, Camdessanché JP. Kpalma G, et al. Among authors: sole g. Med Sci (Paris). 2024 Nov;40 Hors série n° 1:74. doi: 10.1051/medsci/2024127. Epub 2024 Nov 18. Med Sci (Paris). 2024. PMID: 39555884 French. No abstract available.
327 results