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Page 1
Dysregulation of muscle cholesterol transport in amyotrophic lateral sclerosis.
Sapaly D, Cheguillaume F, Weill L, Clerc Z, Biondi O, Bendris S, Buon C, Slika R, Piller E, Sundaram VK, da Silva Ramos A, Amador MDM, Lenglet T, Debs R, Le Forestier N, Pradat PF, Salachas F, Lacomblez L, Hesters A, Borderie D, Devos D, Desnuelle C, Rolland AS, Periou B, Vasseur S, Chapart M, Le Ber I, Fauret-Amsellem AL, Millecamps S, Maisonobe T, Leonard-Louis S, Behin A, Authier FJ, Evangelista T, Charbonnier F, Bruneteau G; PULSE study group. Sapaly D, et al. Brain. 2024 Aug 28:awae270. doi: 10.1093/brain/awae270. Online ahead of print. Brain. 2024. PMID: 39197036
Long-Reads Sequencing Strategy to Localize Variants in TTN Repeated Domains.
Perrin A, Van Goethem C, Thèze C, Puechberty J, Guignard T, Lecardonnel B, Lacourt D, Métay C, Isapof A, Whalen S, Ferreiro A, Arne-Bes MC, Quijano-Roy S, Nectoux J, Leturcq F, Richard P, Larrieux M, Bergougnoux A, Pellestor F, Koenig M, Cossée M. Perrin A, et al. Among authors: arne bes mc. J Mol Diagn. 2022 Jul;24(7):719-726. doi: 10.1016/j.jmoldx.2022.04.006. Epub 2022 May 14. J Mol Diagn. 2022. PMID: 35580751 Free article.
An Integrated Clinical-Biological Approach to Identify Interindividual Variability and Atypical Phenotype-Genotype Correlations in Myopathies: Experience on A Cohort of 156 Families.
Juntas Morales R, Perrin A, Solé G, Lacourt D, Pegeot H, Walther-Louvier U, Cintas P, Cances C, Espil C, Theze C, Zenagui R, Yauy K, Cosset E, Renard D, Rigau V, Maues de Paula A, Uro-Coste E, Arne-Bes MC, Martin Négrier ML, Leboucq N, Acket B, Malfatti E, Biancalana V, Metay C, Richard P, Rendu J, Rivier F, Koenig M, Cossée M. Juntas Morales R, et al. Among authors: arne bes mc. Genes (Basel). 2021 Jul 31;12(8):1199. doi: 10.3390/genes12081199. Genes (Basel). 2021. PMID: 34440373 Free PMC article.
Clinical features of homozygous FIG4-p.Ile41Thr Charcot-Marie-Tooth 4J patients.
Lafontaine M, Lia AS, Bourthoumieu S, Beauvais-Dzugan H, Derouault P, Arné-Bes MC, Sarret C, Laffargue F, Magot A, Sturtz F, Magy L, Magdelaine C. Lafontaine M, et al. Among authors: arne bes mc. Ann Clin Transl Neurol. 2021 Feb;8(2):471-476. doi: 10.1002/acn3.51175. Epub 2021 Jan 6. Ann Clin Transl Neurol. 2021. PMID: 33405357 Free PMC article.
Hearing loss in inherited peripheral neuropathies: Molecular diagnosis by NGS in a French series.
Lerat J, Magdelaine C, Roux AF, Darnaud L, Beauvais-Dzugan H, Naud S, Richard L, Derouault P, Ghorab K, Magy L, Vallat JM, Cintas P, Bieth E, Arne-Bes MC, Goizet C, Espil-Taris C, Journel H, Toutain A, Urtizberea JA, Boespflug-Tanguy O, Laffargue F, Corcia P, Pasquier L, Fradin M, Napuri S, Ciron J, Boulesteix JM, Sturtz F, Lia AS. Lerat J, et al. Among authors: arne bes mc. Mol Genet Genomic Med. 2019 Sep;7(9):e839. doi: 10.1002/mgg3.839. Epub 2019 Aug 8. Mol Genet Genomic Med. 2019. PMID: 31393079 Free PMC article.
Implanted Phrenic Stimulation Impairs Local Diaphragm Myofiber Reinnervation in Amyotrophic Lateral Sclerosis.
Guimarães-Costa R, Niérat MC, Rivals I, Morélot-Panzini C, Romero NB, Menegaux F, Salachas F, Gonzalez-Bermejo J, Similowski T, Bruneteau G; RespiStimALS team. Guimarães-Costa R, et al. Am J Respir Crit Care Med. 2019 Nov 1;200(9):1183-1187. doi: 10.1164/rccm.201903-0653LE. Am J Respir Crit Care Med. 2019. PMID: 31291123 Free article. No abstract available.
Human diaphragm atrophy in amyotrophic lateral sclerosis is not predicted by routine respiratory measures.
Guimarães-Costa R, Similowski T, Rivals I, Morélot-Panzini C, Nierat MC, Bui MT, Akbar D, Straus C, Romero NB, Michel PP, Menegaux F, Salachas F, Gonzalez-Bermejo J, Bruneteau G; RespiStimALS team; contributors to the RespiStimALS study were:. Guimarães-Costa R, et al. Eur Respir J. 2019 Feb 14;53(2):1801749. doi: 10.1183/13993003.01749-2018. Print 2019 Feb. Eur Respir J. 2019. PMID: 30523161 Free article. Clinical Trial.
44 results