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Myoglobinopathy is an adult-onset autosomal dominant myopathy with characteristic sarcoplasmic inclusions.
Olivé M, Engvall M, Ravenscroft G, Cabrera-Serrano M, Jiao H, Bortolotti CA, Pignataro M, Lambrughi M, Jiang H, Forrest ARR, Benseny-Cases N, Hofbauer S, Obinger C, Battistuzzi G, Bellei M, Borsari M, Di Rocco G, Viola HM, Hool LC, Cladera J, Lagerstedt-Robinson K, Xiang F, Wredenberg A, Miralles F, Baiges JJ, Malfatti E, Romero NB, Streichenberger N, Vial C, Claeys KG, Straathof CSM, Goris A, Freyer C, Lammens M, Bassez G, Kere J, Clemente P, Sejersen T, Udd B, Vidal N, Ferrer I, Edström L, Wedell A, Laing NG. Olivé M, et al. Among authors: vial c. Nat Commun. 2019 Mar 27;10(1):1396. doi: 10.1038/s41467-019-09111-2. Nat Commun. 2019. PMID: 30918256 Free PMC article.
Granulomatous myositis: a clinical study of thirteen cases.
Le Roux K, Streichenberger N, Vial C, Petiot P, Feasson L, Bouhour F, Ninet J, Lachenal F, Broussolle C, Sève P. Le Roux K, et al. Among authors: vial c. Muscle Nerve. 2007 Feb;35(2):171-7. doi: 10.1002/mus.20683. Muscle Nerve. 2007. PMID: 17068767 Clinical Trial.
Episodic weakness due to mitochondrial DNA MT-ATP6/8 mutations.
Auré K, Dubourg O, Jardel C, Clarysse L, Sternberg D, Fournier E, Laforêt P, Streichenberger N, Petiot P, Gervais-Bernard H, Vial C, Bedat-Millet AL, Drouin-Garraud V, Bouillaud F, Vandier C, Fontaine B, Lombès A. Auré K, et al. Among authors: vial c. Neurology. 2013 Nov 19;81(21):1810-8. doi: 10.1212/01.wnl.0000436067.43384.0b. Epub 2013 Oct 23. Neurology. 2013. PMID: 24153443
FSHD1 and FSHD2 form a disease continuum.
Sacconi S, Briand-Suleau A, Gros M, Baudoin C, Lemmers RJLF, Rondeau S, Lagha N, Nigumann P, Cambieri C, Puma A, Chapon F, Stojkovic T, Vial C, Bouhour F, Cao M, Pegoraro E, Petiot P, Behin A, Marc B, Eymard B, Echaniz-Laguna A, Laforet P, Salviati L, Jeanpierre M, Cristofari G, van der Maarel SM. Sacconi S, et al. Among authors: vial c. Neurology. 2019 May 7;92(19):e2273-e2285. doi: 10.1212/WNL.0000000000007456. Epub 2019 Apr 12. Neurology. 2019. PMID: 30979860 Free PMC article.
Convergence of patient- and physician-reported outcomes in the French National Registry of Facioscapulohumeral Dystrophy.
Sanson B, Stalens C, Guien C, Villa L, Eng C, Rabarimeriarijaona S, Bernard R, Cintas P, Solé G, Tiffreau V, Echaniz-Laguna A, Magot A, Juntas Morales R, Boyer FC, Nadaj-Pakleza A, Jacquin-Piques A, Béroud C, Sacconi S; French FSHD registry collaboration group. Sanson B, et al. Orphanet J Rare Dis. 2022 Mar 2;17(1):96. doi: 10.1186/s13023-021-01793-6. Orphanet J Rare Dis. 2022. PMID: 35236385 Free PMC article.
Hereditary neuropathy with liability to pressure palsy in patients under 30 years old: Neurophysiological data and proposed electrodiagnostic criteria.
Robert-Varvat F, Jousserand G, Bouhour F, Vial C, Cintas P, Echaniz-Laguna A, Delmont E, Clavelou P, Chauplannaz G, Jomir L, Pereon Y, Leonard-Louis S, Manel V, Antoine JC, Lacour A, Camdessanche JP. Robert-Varvat F, et al. Among authors: vial c. Muscle Nerve. 2018 Feb;57(2):217-221. doi: 10.1002/mus.25666. Epub 2017 Jun 11. Muscle Nerve. 2018. PMID: 28407266
[Steinert disease].
Bouhour F, Bost M, Vial C. Bouhour F, et al. Among authors: vial c. Presse Med. 2007 Jun;36(6 Pt 2):965-71. doi: 10.1016/j.lpm.2007.01.002. Epub 2007 Feb 7. Presse Med. 2007. PMID: 17289339 Free article. Review. French.
Peripheral small fiber dysfunction and neuropathic pain in patients with Morvan syndrome.
Laurencin C, André-Obadia N, Camdessanché JP, Mauguière F, Ong E, Vukusic S, Peter-Derex L, Meyronet D, Bouhour F, Vial C, Ducray F, Honnorat J, Petiot P. Laurencin C, et al. Among authors: vial c. Neurology. 2015 Dec 8;85(23):2076-8. doi: 10.1212/WNL.0000000000002037. Epub 2015 Sep 23. Neurology. 2015. PMID: 26400578 No abstract available.
383 results