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Items: 1 to 50 of 399

1.

'Dusty core disease' (DuCD): expanding morphological spectrum of RYR1 recessive myopathies.

Garibaldi M, Rendu J, Brocard J, Lacene E, Fauré J, Brochier G, Beuvin M, Labasse C, Madelaine A, Malfatti E, Bevilacqua JA, Lubieniecki F, Monges S, Taratuto AL, Laporte J, Marty I, Antonini G, Romero NB.

Acta Neuropathol Commun. 2019 Jan 5;7(1):3. doi: 10.1186/s40478-018-0655-5.

2.

Clathrin plaques and associated actin anchor intermediate filaments in skeletal muscle.

Franck A, Lainé J, Moulay G, Lemerle E, Trichet M, Gentil C, Benkhelifa-Ziyyat S, Lacène E, Bui MT, Brochier G, Guicheney P, Romero N, Bitoun M, Vassilopoulos S.

Mol Biol Cell. 2019 Jan 2:mbcE18110718. doi: 10.1091/mbc.E18-11-0718. [Epub ahead of print]

PMID:
30601711
3.

Human diaphragm atrophy in ALS 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 (see Appendix).

Eur Respir J. 2018 Dec 5. pii: 1801749. doi: 10.1183/13993003.01749-2018. [Epub ahead of print]

PMID:
30523161
4.

The Role of Double and Triple Therapy with Direct Oral Anticoagulants in Coronary Artery Disease, Peripheral Artery Disease, and Stroke.

Romero N, Lupi K, Carter D, Malloy R.

Clin Ther. 2018 Nov;40(11):1907-1917.e3. doi: 10.1016/j.clinthera.2018.09.014. Epub 2018 Oct 24.

PMID:
30458931
5.

Loss of Sarcomeric Scaffolding as a Common Baseline Histopathologic Lesion in Titin-Related Myopathies.

Ávila-Polo R, Malfatti E, Lornage X, Cheraud C, Nelson I, Nectoux J, Böhm J, Schneider R, Hedberg-Oldfors C, Eymard B, Monges S, Lubieniecki F, Brochier G, Thao Bui M, Madelaine A, Labasse C, Beuvin M, Lacène E, Boland A, Deleuze JF, Thompson J, Richard I, Taratuto AL, Udd B, Leturcq F, Bonne G, Oldfors A, Laporte J, Romero NB.

J Neuropathol Exp Neurol. 2018 Dec 1;77(12):1101-1114. doi: 10.1093/jnen/nly095.

PMID:
30365001
6.

Novel ASCC1 mutations causing prenatal-onset muscle weakness with arthrogryposis and congenital bone fractures.

Böhm J, Malfatti E, Oates E, Jones K, Brochier G, Boland A, Deleuze JF, Romero NB, Laporte J.

J Med Genet. 2018 Oct 16. pii: jmedgenet-2018-105390. doi: 10.1136/jmedgenet-2018-105390. [Epub ahead of print]

PMID:
30327447
7.

Myopathy with MTCYB mutation mimicking Multiple Acyl-CoA Dehydrogenase Deficiency.

Kaphan E, Bou Ali H, Gastaldi M, Acquaviva C, Vianey-Saban C, Rouzier C, Fragaki K, Bannwarth S, Paquis-Flucklinger V, Romero N, Behin A, Lombès A, Jardel C, Rigal O, Laforêt P.

Rev Neurol (Paris). 2018 Dec;174(10):731-735. doi: 10.1016/j.neurol.2018.03.014. Epub 2018 Oct 11.

PMID:
30318261
8.

Structure-Property of Lithium-Sulfur Nanoparticles via Molecular Dynamics Simulation.

Li Y, Romero NA, Lau KC.

ACS Appl Mater Interfaces. 2018 Oct 31;10(43):37575-37585. doi: 10.1021/acsami.8b09128. Epub 2018 Oct 19.

PMID:
30298723
9.

A new case of SMA phenotype without epilepsy due to biallelic variants in ASAH1.

Ame van der Beek N, Nelson I, Froissart R, Levade T, Garcia V, Lacene E, Boland A, Masson C, Romero NB, Stojkovic T, Bonne G, Béhin A.

Eur J Hum Genet. 2018 Oct 5. doi: 10.1038/s41431-018-0250-z. [Epub ahead of print] No abstract available.

PMID:
30291339
10.

Some DNM2 mutations cause extremely severe congenital myopathy and phenocopy myotubular myopathy.

Biancalana V, Romero NB, Thuestad IJ, Ignatius J, Kataja J, Gardberg M, Héron D, Malfatti E, Oldfors A, Laporte J.

Acta Neuropathol Commun. 2018 Sep 12;6(1):93. doi: 10.1186/s40478-018-0593-2. No abstract available.

11.

Core-rod myopathy due to a novel mutation in BTB/POZ domain of KBTBD13 manifesting as late onset LGMD.

Garibaldi M, Fattori F, Bortolotti CA, Brochier G, Labasse C, Verardo M, Servian-Morilla E, Gibellini L, Pinti M, Di Rocco G, Raffa S, Pennisi EM, Bertini ES, Paradas C, Romero NB, Antonini G.

Acta Neuropathol Commun. 2018 Sep 13;6(1):94. doi: 10.1186/s40478-018-0595-0. No abstract available.

12.

Anti-TNFR1 targeting in humanized mice ameliorates disease in a model of multiple sclerosis.

Williams SK, Fairless R, Maier O, Liermann PC, Pichi K, Fischer R, Eisel ULM, Kontermann R, Herrmann A, Weksler B, Romero N, Couraud PO, Pfizenmaier K, Diem R.

Sci Rep. 2018 Sep 11;8(1):13628. doi: 10.1038/s41598-018-31957-7.

13.

Author Correction: Matrix metalloproteinase-9 activity and a downregulated Hedgehog pathway impair blood-brain barrier function in an in vitro model of CNS tuberculosis.

Brilha S, Ong CWM, Weksler B, Romero N, Couraud PO, Friedland JS.

Sci Rep. 2018 Sep 12;8(1):13956. doi: 10.1038/s41598-018-31948-8.

14.

Nuclear Speckle RNA Binding Proteins Remodel Alternative Splicing and the Non-coding Arabidopsis Transcriptome to Regulate a Cross-Talk Between Auxin and Immune Responses.

Bazin J, Romero N, Rigo R, Charon C, Blein T, Ariel F, Crespi M.

Front Plant Sci. 2018 Aug 21;9:1209. doi: 10.3389/fpls.2018.01209. eCollection 2018.

15.

STAC3 variants cause a congenital myopathy with distinctive dysmorphic features and malignant hyperthermia susceptibility.

Zaharieva IT, Sarkozy A, Munot P, Manzur A, O'Grady G, Rendu J, Malfatti E, Amthor H, Servais L, Urtizberea JA, Neto OA, Zanoteli E, Donkervoort S, Taylor J, Dixon J, Poke G, Foley AR, Holmes C, Williams G, Holder M, Yum S, Medne L, Quijano-Roy S, Romero NB, Fauré J, Feng L, Bastaki L, Davis MR, Phadke R, Sewry CA, Bönnemann CG, Jungbluth H, Bachmann C, Treves S, Muntoni F.

Hum Mutat. 2018 Dec;39(12):1980-1994. doi: 10.1002/humu.23635. Epub 2018 Oct 11.

PMID:
30168660
16.

Molecular mechanisms related to the hepatoprotective effects of antioxidant-rich extra virgin olive oil supplementation in rats subjected to short-term iron administration.

Barrera C, Valenzuela R, Rincón MÁ, Espinosa A, Echeverria F, Romero N, Gonzalez-Mañan D, Videla LA.

Free Radic Biol Med. 2018 Oct;126:313-321. doi: 10.1016/j.freeradbiomed.2018.08.030. Epub 2018 Aug 25.

PMID:
30153476
17.

Anti-oxidative and anti-inflammatory effects of Rosa Mosqueta oil supplementation in rat liver ischemia-reperfusion.

Dossi CG, González-Mañán D, Romero N, Silva D, Videla LA, Tapia GS.

Food Funct. 2018 Sep 19;9(9):4847-4857. doi: 10.1039/c8fo00969d.

PMID:
30140814
18.

Sarcomeric disorganization and nemaline bodies in muscle biopsies of patients with EXOSC3-related type 1 pontocerebellar hypoplasia.

Pinto MM, Monges S, Malfatti E, Lubieniecki F, Lornage X, Alias L, Labasse C, Madelaine A, Fardeau M, Laporte J, Tizzano EF, Romero NB.

Muscle Nerve. 2019 Jan;59(1):137-141. doi: 10.1002/mus.26305. Epub 2018 Dec 16.

PMID:
30025162
19.

A Roma founder BIN1 mutation causes a novel phenotype of centronuclear myopathy with rigid spine.

Cabrera-Serrano M, Mavillard F, Biancalana V, Rivas E, Morar B, Hernández-Laín A, Olive M, Muelas N, Khan E, Carvajal A, Quiroga P, Diaz-Manera J, Davis M, Ávila R, Domínguez C, Romero NB, Vílchez JJ, Comas D, Laing NG, Laporte J, Kalaydjieva L, Paradas C.

Neurology. 2018 Jul 24;91(4):e339-e348. doi: 10.1212/WNL.0000000000005862. Epub 2018 Jun 27.

PMID:
29950440
20.

Genetic Mutations and Demographic, Clinical, and Morphological Aspects of Myofibrillar Myopathy in a French Cohort.

Carvalho AAS, Lacene E, Brochier G, Labasse C, Madelaine A, Silva VGD, Corazzini R, Papadopoulos K, Behin A, Laforêt P, Stojkovic T, Eymard B, Fardeau M, Romero N.

Genet Test Mol Biomarkers. 2018 Jun;22(6):374-383. doi: 10.1089/gtmb.2018.0004.

PMID:
29924655
21.

Phenotype and genotype of muscle ryanodine receptor rhabdomyolysis-myalgia syndrome.

Witting N, Laforêt P, Voermans NC, Roux-Buisson N, Bompaire F, Rendu J, Duno M, Feillet F, Kamsteeg EJ, Poulsen NS, Dahlqvist JR, Romero NB, Fauré J, Vissing J, Behin A.

Acta Neurol Scand. 2018 May;137(5):452-461. doi: 10.1111/ane.12885. Epub 2017 Dec 29.

PMID:
29635721
22.

Role of dietary α- and γ-tocopherol from Rosa mosqueta oil in the prevention of alterations induced by high-fat diet in a murine model.

Tapia G, Silva D, Romero N, Pettinelli P, Dossi CG, de Miguel M, González-Mañán D.

Nutrition. 2018 Sep;53:1-8. doi: 10.1016/j.nut.2018.01.012. Epub 2018 Apr 3.

PMID:
29625348
23.

Clinical and imaging hallmarks of the MYH7-related myopathy with severe axial involvement.

Dabaj I, Carlier RY, Gómez-Andrés D, Neto OA, Bertini E, D'amico A, Fattori F, PéRéon Y, Castiglioni C, Rodillo E, Catteruccia M, Guimarães JB, Oliveira ASB, Reed UC, Mesrob L, Lechner D, Boland A, Deleuze JF, Malfatti E, Bonnemann C, Laporte J, Romero N, Felter A, Quijano-Roy S, Moreno CAM, Zanoteli E.

Muscle Nerve. 2018 Aug;58(2):224-234. doi: 10.1002/mus.26137. Epub 2018 May 14.

PMID:
29624713
24.

QMCPACK: an open source ab initio quantum Monte Carlo package for the electronic structure of atoms, molecules and solids.

Kim J, Baczewski AT, Beaudet TD, Benali A, Bennett MC, Berrill MA, Blunt NS, Borda EJL, Casula M, Ceperley DM, Chiesa S, Clark BK, Clay RC, Delaney KT, Dewing M, Esler KP, Hao H, Heinonen O, Kent PRC, Krogel JT, Kylänpää I, Li YW, Lopez MG, Luo Y, Malone FD, Martin RM, Mathuriya A, McMinis J, Melton CA, Mitas L, Morales MA, Neuscamman E, Parker WD, Pineda Flores SD, Romero NA, Rubenstein BM, Shea JAR, Shin H, Shulenburger L, Tillack AF, Townsend JP, Tubman NM, Van Der Goetz B, Vincent JE, Yang DC, Yang Y, Zhang S, Zhao L.

J Phys Condens Matter. 2018 May 16;30(19):195901. doi: 10.1088/1361-648X/aab9c3. Epub 2018 Mar 27.

PMID:
29582782
25.

Herpesvirus Evasion of Natural Killer Cells.

De Pelsmaeker S, Romero N, Vitale M, Favoreel HW.

J Virol. 2018 May 14;92(11). pii: e02105-17. doi: 10.1128/JVI.02105-17. Print 2018 Jun 1. Review.

26.

Prothoracicotropic hormone modulates environmental adaptive plasticity through the control of developmental timing.

Shimell M, Pan X, Martin FA, Ghosh AC, Leopold P, O'Connor MB, Romero NM.

Development. 2018 Mar 14;145(6). pii: dev159699. doi: 10.1242/dev.159699.

27.

Novel mutations in DNAJB6 cause LGMD1D and distal myopathy in French families.

Jonson PH, Palmio J, Johari M, Penttilä S, Evilä A, Nelson I, Bonne G, Wiart N, Meyer V, Boland A, Deleuze JF, Masson C, Stojkovic T, Chapon F, Romero NB, Solé G, Ferrer X, Ferreiro A, Hackman P, Richard I, Udd B.

Eur J Neurol. 2018 May;25(5):790-794. doi: 10.1111/ene.13598. Epub 2018 Mar 30.

PMID:
29437287
28.

Biochemistry of Peroxynitrite and Protein Tyrosine Nitration.

Ferrer-Sueta G, Campolo N, Trujillo M, Bartesaghi S, Carballal S, Romero N, Alvarez B, Radi R.

Chem Rev. 2018 Feb 14;118(3):1338-1408. doi: 10.1021/acs.chemrev.7b00568. Epub 2018 Feb 5.

PMID:
29400454
29.

Dysfunctional sarcomere contractility contributes to muscle weakness in ACTA1-related nemaline myopathy (NEM3).

Joureau B, de Winter JM, Conijn S, Bogaards SJP, Kovacevic I, Kalganov A, Persson M, Lindqvist J, Stienen GJM, Irving TC, Ma W, Yuen M, Clarke NF, Rassier DE, Malfatti E, Romero NB, Beggs AH, Ottenheijm CAC.

Ann Neurol. 2018 Feb;83(2):269-282. doi: 10.1002/ana.25144. Epub 2018 Feb 6.

PMID:
29328520
30.

Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.

Ben Yaou R, Hubert A, Nelson I, Dahlqvist JR, Gaist D, Streichenberger N, Beuvin M, Krahn M, Petiot P, Parisot F, Michel F, Malfatti E, Romero N, Carlier RY, Eymard B, Labrune P, Duno M, Krag T, Cerino M, Bartoli M, Bonne G, Vissing J, Laforet P, Petit FM.

Neurol Genet. 2017 Dec 18;3(6):e208. doi: 10.1212/NXG.0000000000000208. eCollection 2017 Dec.

31.

Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.

Stojkovic T, Chanut A, Laforêt P, Madelaine A, Petit F, Romero NB, Malfatti E.

Muscle Nerve. 2018 May;57(5):E122-E124. doi: 10.1002/mus.26030. Epub 2017 Dec 22. No abstract available.

PMID:
29205400
32.

Matrix metalloproteinase-9 activity and a downregulated Hedgehog pathway impair blood-brain barrier function in an in vitro model of CNS tuberculosis.

Brilha S, Ong CWM, Weksler B, Romero N, Couraud PO, Friedland JS.

Sci Rep. 2017 Nov 22;7(1):16031. doi: 10.1038/s41598-017-16250-3. Erratum in: Sci Rep. 2018 Sep 12;8(1):13956.

33.

Metabolic strategies for the degradation of the neuromodulator agmatine in mammals.

Benítez J, García D, Romero N, González A, Martínez-Oyanedel J, Figueroa M, Salas M, López V, García-Robles M, Dodd PR, Schenk G, Carvajal N, Uribe E.

Metabolism. 2018 Apr;81:35-44. doi: 10.1016/j.metabol.2017.11.005. Epub 2017 Nov 21. Review.

PMID:
29162499
34.

Effect of the composition of extra virgin olive oils on the differentiation and antioxidant capacities of twelve monovarietals.

Fuentes E, Paucar F, Tapia F, Ortiz J, Jimenez P, Romero N.

Food Chem. 2018 Mar 15;243:285-294. doi: 10.1016/j.foodchem.2017.09.130. Epub 2017 Sep 28.

PMID:
29146340
35.

A novel FLNC frameshift and an OBSCN variant in a family with distal muscular dystrophy.

Rossi D, Palmio J, Evilä A, Galli L, Barone V, Caldwell TA, Policke RA, Aldkheil E, Berndsen CE, Wright NT, Malfatti E, Brochier G, Pierantozzi E, Jordanova A, Guergueltcheva V, Romero NB, Hackman P, Eymard B, Udd B, Sorrentino V.

PLoS One. 2017 Oct 26;12(10):e0186642. doi: 10.1371/journal.pone.0186642. eCollection 2017.

36.

CASQ1 mutations impair calsequestrin polymerization and cause tubular aggregate myopathy.

Böhm J, Lornage X, Chevessier F, Birck C, Zanotti S, Cudia P, Bulla M, Granger F, Bui MT, Sartori M, Schneider-Gold C, Malfatti E, Romero NB, Mora M, Laporte J.

Acta Neuropathol. 2018 Jan;135(1):149-151. doi: 10.1007/s00401-017-1775-x. Epub 2017 Oct 16. No abstract available.

PMID:
29039140
37.

Corrigendum to "22nd International Congress of the World Muscle Society, Saint Malo, France, 3rd-7th October 2017" [Neuromuscular Disorders 27S2 (2017) S51-S270].

Rendu J, Bosson C, Roux-Buisson N, Chatagnon A, Bankole B, Rivier F, Durigneux J, Monges S, Stojkovic T, Romero N, Marty I, Fauré J.

Neuromuscul Disord. 2017 Nov;27(11):e1. doi: 10.1016/j.nmd.2017.09.014. Epub 2017 Oct 21. No abstract available.

PMID:
29033277
38.

[Some insulins to orchestrate growth].

Boone E, Boulan L, Andersen DS, Romero N, Léopold P, Colombani J.

Med Sci (Paris). 2017 Jun-Jul;33(6-7):637-641. doi: 10.1051/medsci/20173306021. Epub 2017 Jul 19. Review. French.

39.

Diseases of the skeletal muscle.

Malfatti E, Romero NB.

Handb Clin Neurol. 2017;145:429-451. doi: 10.1016/B978-0-12-802395-2.00030-4. Review.

PMID:
28987188
40.

Hypopharyngeal applications of a new flexible robotic system in otolaryngology.

Chao JR, Goodman J, Fuson A, Romero NJ, Joshi A.

J Robot Surg. 2018 Sep;12(3):571-574. doi: 10.1007/s11701-017-0756-3. Epub 2017 Sep 27.

PMID:
28956250
41.

Supplementation with Docosahexaenoic Acid and Extra Virgin Olive Oil Prevents Liver Steatosis Induced by a High-Fat Diet in Mice through PPAR-α and Nrf2 Upregulation with Concomitant SREBP-1c and NF-kB Downregulation.

Hernández-Rodas MC, Valenzuela R, Echeverría F, Rincón-Cervera MÁ, Espinosa A, Illesca P, Muñoz P, Corbari A, Romero N, Gonzalez-Mañan D, Videla LA.

Mol Nutr Food Res. 2017 Dec;61(12). doi: 10.1002/mnfr.201700479. Epub 2017 Nov 13.

PMID:
28940752
42.

Expression of the neuropathy-associated MTMR2 gene rescues MTM1-associated myopathy.

Raess MA, Cowling BS, Bertazzi DL, Kretz C, Rinaldi B, Xuereb JM, Kessler P, Romero NB, Payrastre B, Friant S, Laporte J.

Hum Mol Genet. 2017 Oct 1;26(19):3736-3748. doi: 10.1093/hmg/ddx258.

PMID:
28934386
43.

Insulin-dependent metabolic and inotropic responses in the heart are modulated by hydrogen peroxide from NADPH-oxidase isoforms NOX2 and NOX4.

Steinhorn B, Sartoretto JL, Sorrentino A, Romero N, Kalwa H, Abel ED, Michel T.

Free Radic Biol Med. 2017 Dec;113:16-25. doi: 10.1016/j.freeradbiomed.2017.09.006. Epub 2017 Sep 14.

44.

Zonda is a novel early component of the autophagy pathway in Drosophila.

Melani M, Valko A, Romero NM, Aguilera MO, Acevedo JM, Bhujabal Z, Perez-Perri J, de la Riva-Carrasco RV, Katz MJ, Sorianello E, D'Alessio C, Juhász G, Johansen T, Colombo MI, Wappner P.

Mol Biol Cell. 2017 Nov 1;28(22):3070-3081. doi: 10.1091/mbc.E16-11-0767. Epub 2017 Sep 13.

45.

Coupling and Dearomatization of Pyridines at a Transient η2 -Cyclopropene/Bicyclobutane Zirconocene Complex.

Romero N, Dufrois Q, Vendier L, Dinoi C, Etienne M.

Chemistry. 2017 Nov 7;23(62):15766-15774. doi: 10.1002/chem.201703371. Epub 2017 Oct 16.

PMID:
28869316
46.

Dissimilar catalytic behavior of molecular or colloidal palladium systems with a new NHC ligand.

Gómez-Villarraga F, De Tovar J, Guerrero M, Nolis P, Parella T, Lecante P, Romero N, Escriche L, Bofill R, Ros J, Sala X, Philippot K, García-Antón J.

Dalton Trans. 2017 Sep 12;46(35):11768-11778. doi: 10.1039/c7dt02729j.

PMID:
28829078
47.

Dyspnea as the Presenting Symptom of Cervical Spondylotic Myelopathy.

Yu E, Romero N, Miles T, Hsu SL, Kondrashov D.

Surg J (N Y). 2016 Dec 14;2(4):e147-e150. doi: 10.1055/s-0036-1597664. eCollection 2016 Oct.

48.

Two new cases of mitochondrial myopathy with exercise intolerance, hyperlactatemia and cardiomyopathy, caused by recessive SLC25A4 mutations.

Tosserams A, Papadopoulos C, Jardel C, Lemière I, Romero NB, De Lonlay P, Wahbi K, Voermans N, Hogrel JY, Laforêt P.

Mitochondrion. 2018 Mar;39:26-29. doi: 10.1016/j.mito.2017.08.009. Epub 2017 Aug 18. Review.

PMID:
28823815
49.

Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients.

Abath Neto O, Moreno CAM, Malfatti E, Donkervoort S, Böhm J, Guimarães JB, Foley AR, Mohassel P, Dastgir J, Bharucha-Goebel DX, Monges S, Lubieniecki F, Collins J, Medne L, Santi M, Yum S, Banwell B, Salort-Campana E, Rendu J, Fauré J, Yis U, Eymard B, Cheraud C, Schneider R, Thompson J, Lornage X, Mesrob L, Lechner D, Boland A, Deleuze JF, Reed UC, Oliveira ASB, Biancalana V, Romero NB, Bönnemann CG, Laporte J, Zanoteli E.

Neuromuscul Disord. 2017 Nov;27(11):975-985. doi: 10.1016/j.nmd.2017.05.016. Epub 2017 May 30.

PMID:
28818389
50.

Anti-HMGCR Antibody-Related Necrotizing Autoimmune Myopathy Mimicking Muscular Dystrophy.

Tard C, Tiffreau V, Jaillette E, Jouen F, Nelson I, Bonne G, Yaou RB, Romero N, Vallée L, Vermersch P, Nguyen S, Maurage CA, Cuisset JM.

Neuropediatrics. 2017 Dec;48(6):473-476. doi: 10.1055/s-0037-1604402. Epub 2017 Aug 4. No abstract available.

PMID:
28778101

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