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Page 1
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: de la cruz e. 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
Bending stiffness of Toxoplasma gondii actin filaments.
Cao W, Sladewski TE, Heaslip AT, De La Cruz EM. Cao W, et al. Among authors: de la cruz em. J Biol Chem. 2024 Dec 18;301(2):108101. doi: 10.1016/j.jbc.2024.108101. Online ahead of print. J Biol Chem. 2024. PMID: 39706262 Free article.
A potent and selective reaction hijacking inhibitor of Plasmodium falciparum tyrosine tRNA synthetase exhibits single dose oral efficacy in vivo.
Xie SC, Tai CW, Morton CJ, Ma L, Huang SC, Wittlin S, Du Y, Hu Y, Dogovski C, Salimimarand M, Griffin R, England D, de la Cruz E, Deni I, Yeo T, Burkhard AY, Striepen J, Schindler KA, Crespo B, Gamo FJ, Khandokar Y, Hutton CA, Rabie T, Birkholtz LM, Famodimu MT, Delves MJ, Bolsher J, Koolen KMJ, van der Laak R, Aguiar ACC, Pereira DB, Guido RVC, Creek DJ, Fidock DA, Dick LR, Brand SL, Gould AE, Langston S, Griffin MDW, Tilley L. Xie SC, et al. Among authors: de la cruz e. PLoS Pathog. 2024 Dec 9;20(12):e1012429. doi: 10.1371/journal.ppat.1012429. eCollection 2024 Dec. PLoS Pathog. 2024. PMID: 39652589 Free PMC article.
MYH7-related myopathies: clinical, myopathological and genotypic spectrum in a multicentre French cohort.
Bahout M, Severa G, Kamoun E, Bouhour F, Pegat A, Toutain A, Lagrange E, Duval F, Tard C, De la Cruz E, Féasson L, Jacquin-Piques A, Richard P, Métay C, Cavalli M, Romero NB, Evangelista T, Sole G, Carlier RY, Laforêt P, Acket B, Behin A, Fernández-Eulate G, Léonard-Louis S, Quijano-Roy S, Pereon Y, Salort-Campana E, Nadaj-Pakleza A, Masingue M, Malfatti E, Stojkovic T, Villar-Quiles RN. Bahout M, et al. Among authors: de la cruz e. J Neurol Neurosurg Psychiatry. 2024 Oct 24:jnnp-2024-334263. doi: 10.1136/jnnp-2024-334263. Online ahead of print. J Neurol Neurosurg Psychiatry. 2024. PMID: 39448255 Free article.
Safety, tolerability, and efficacy of fasudil in amyotrophic lateral sclerosis (ROCK-ALS): a phase 2, randomised, double-blind, placebo-controlled trial.
Koch JC, Leha A, Bidner H, Cordts I, Dorst J, Günther R, Zeller D, Braun N, Metelmann M, Corcia P, De La Cruz E, Weydt P, Meyer T, Großkreutz J, Soriani MH, Attarian S, Weishaupt JH, Weyen U, Kuttler J, Zurek G, Rogers ML, Feneberg E, Deschauer M, Neuwirth C, Wuu J, Ludolph AC, Schmidt J, Remane Y, Camu W, Friede T, Benatar M, Weber M, Lingor P; ROCK-ALS Study group. Koch JC, et al. Among authors: de la cruz e. Lancet Neurol. 2024 Nov;23(11):1133-1146. doi: 10.1016/S1474-4422(24)00373-9. Lancet Neurol. 2024. PMID: 39424560 Free article. Clinical Trial.
Pathways to strengthen the climate resilience of health systems in the Peruvian Amazon by working with Indigenous leaders, communities and health officers.
Vidal-Cuellar CL, Chicmana-Zapata V, Arotoma-Rojas I, Meza G, Ford JD, Rodríguez Ferruchi H, De-La-Cruz E, Lancha-Rucoba G, Borjas-Cavero DB, Loarte S, Alencastre Mamani O, Peña Palma VI, Coronel-Altamirano MG, Benites I, Pinasco G, Valera R, Maguiña Huaman M, Urteaga-Villanueva A, Munayco CV, Zavaleta-Cortijo C. Vidal-Cuellar CL, et al. Among authors: de la cruz e. BMJ Glob Health. 2024 Sep 7;8(Suppl 3):e014391. doi: 10.1136/bmjgh-2023-014391. BMJ Glob Health. 2024. PMID: 39244218 Free PMC article.
Caffeine consumption outcomes on amyotrophic lateral sclerosis disease progression and cognition.
Huin V, Blum D, Delforge V, Cailliau E, Djeziri S, Dujardin K, Genet A, Viard R, Attarian S, Bruneteau G, Cassereau J, Genestet S, Kaminsky AL, Soriani MH, Lefilliatre M, Couratier P, Pittion-Vouyovitch S, Esselin F, De La Cruz E, Guy N, Kolev I, Corcia P, Cintas P, Desnuelle C, Buée L, Danel-Brunaud V, Devos D, Rolland AS. Huin V, et al. Among authors: de la cruz e. Neurobiol Dis. 2024 Sep;199:106603. doi: 10.1016/j.nbd.2024.106603. Epub 2024 Jul 11. Neurobiol Dis. 2024. PMID: 39002811 Free article.
Author Correction: The SOD1-mediated ALS phenotype shows a decoupling between age of symptom onset and disease duration.
Opie-Martin S, Iacoangeli A, Topp SD, Abel O, Mayl K, Mehta PR, Shatunov A, Fogh I, Bowles H, Limbachiya N, Spargo TP, Al-Khleifat A, Williams KL, Jockel-Balsarotti J, Bali T, Self W, Henden L, Nicholson GA, Ticozzi N, McKenna-Yasek D, Tang L, Shaw PJ, Chio A, Ludolph A, Weishaupt JH, Landers JE, Glass JD, Mora JS, Robberecht W, Damme PV, McLaughlin R, Hardiman O, van den Berg L, Veldink JH, Corcia P, Stevic Z, Siddique N, Silani V, Blair IP, Fan DS, Esselin F, de la Cruz E, Camu W, Basak NA, Siddique T, Miller T, Brown RH, Al-Chalabi A, Shaw CE. Opie-Martin S, et al. Among authors: de la cruz e. Nat Commun. 2024 Jul 2;15(1):5560. doi: 10.1038/s41467-024-49938-y. Nat Commun. 2024. PMID: 38956107 Free PMC article. No abstract available.
256 results