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Items: 1 to 50 of 382

1.

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. 2018 Jul 19. doi: 10.1002/mus.26305. [Epub ahead of print]

PMID:
30025162
2.

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
3.

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
4.

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
5.

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
6.

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 Apr 6. doi: 10.1002/mus.26137. [Epub ahead of print]

PMID:
29624713
7.

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
8.

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.

PMID:
29540598
9.

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.

PMID:
29467242
10.

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
11.

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
12.

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
13.

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.

14.

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
15.

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.

16.

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
17.

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
18.

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.

19.

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
20.

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
21.

[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.

22.

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
23.

Hypopharyngeal applications of a new flexible robotic system in otolaryngology.

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

J Robot Surg. 2017 Sep 27. doi: 10.1007/s11701-017-0756-3. [Epub ahead of print]

PMID:
28956250
24.

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
25.

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
26.

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.

PMID:
28917508
27.

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.

28.

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
29.

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
30.

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.

31.

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.

PMID:
28823815
32.

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
33.

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
34.

[Diffuse type of gastric cancer adenocarcinoma in 10 years old boy: report of a case].

Romero N, Zegarra I, Delgado H.

Rev Gastroenterol Peru. 2017 Apr-Jun;37(2):187-189. Spanish.

PMID:
28732003
35.

Mutations in GFPT1-related congenital myasthenic syndromes are associated with synaptic morphological defects and underlie a tubular aggregate myopathy with synaptopathy.

Bauché S, Vellieux G, Sternberg D, Fontenille MJ, De Bruyckere E, Davoine CS, Brochier G, Messéant J, Wolf L, Fardeau M, Lacène E, Romero N, Koenig J, Fournier E, Hantaï D, Streichenberger N, Manel V, Lacour A, Nadaj-Pakleza A, Sukno S, Bouhour F, Laforêt P, Fontaine B, Strochlic L, Eymard B, Chevessier F, Stojkovic T, Nicole S.

J Neurol. 2017 Aug;264(8):1791-1803. doi: 10.1007/s00415-017-8569-x. Epub 2017 Jul 15.

PMID:
28712002
36.

Affected female carriers of MTM1 mutations display a wide spectrum of clinical and pathological involvement: delineating diagnostic clues.

Biancalana V, Scheidecker S, Miguet M, Laquerrière A, Romero NB, Stojkovic T, Abath Neto O, Mercier S, Voermans N, Tanner L, Rogers C, Ollagnon-Roman E, Roper H, Boutte C, Ben-Shachar S, Lornage X, Vasli N, Schaefer E, Laforet P, Pouget J, Moerman A, Pasquier L, Marcorelle P, Magot A, Küsters B, Streichenberger N, Tranchant C, Dondaine N, Schneider R, Gasnier C, Calmels N, Kremer V, Nguyen K, Perrier J, Kamsteeg EJ, Carlier P, Carlier RY, Thompson J, Boland A, Deleuze JF, Fardeau M, Zanoteli E, Eymard B, Laporte J.

Acta Neuropathol. 2017 Dec;134(6):889-904. doi: 10.1007/s00401-017-1748-0. Epub 2017 Jul 6.

PMID:
28685322
37.

Dynamin-2 mutations linked to Centronuclear Myopathy impair actin-dependent trafficking in muscle cells.

González-Jamett AM, Baez-Matus X, Olivares MJ, Hinostroza F, Guerra-Fernández MJ, Vasquez-Navarrete J, Bui MT, Guicheney P, Romero NB, Bevilacqua JA, Bitoun M, Caviedes P, Cárdenas AM.

Sci Rep. 2017 Jul 4;7(1):4580. doi: 10.1038/s41598-017-04418-w.

38.

Prevalence of tuberculosis respiratory symptoms and associated factors in the indigenous populations of Paraguay (2012).

Aguirre S, Cuellar CM, Herrero MB, Cortesi GC, Romero NG, Alvarez M, Braga JU.

Mem Inst Oswaldo Cruz. 2017 Jul;112(7):474-484. doi: 10.1590/0074-02760160443.

39.

Identification of emotions in mixed disgusted-happy faces as a function of depressive symptom severity.

Sanchez A, Romero N, Maurage P, De Raedt R.

J Behav Ther Exp Psychiatry. 2017 Dec;57:96-102. doi: 10.1016/j.jbtep.2017.05.002. Epub 2017 May 5.

PMID:
28499119
40.

Novel case examples of the submental island flap in pediatric head and neck reconstruction.

Wiedermann JP, Romero N, Shah RK, Preciado D, Cohn JE, Kieliszak CR, Joshi AS.

Int J Pediatr Otorhinolaryngol. 2017 Jun;97:51-54. doi: 10.1016/j.ijporl.2017.03.026. Epub 2017 Mar 21.

PMID:
28483251
41.
42.
43.

Recessive MYPN mutations cause cap myopathy with occasional nemaline rods.

Lornage X, Malfatti E, Chéraud C, Schneider R, Biancalana V, Cuisset JM, Garibaldi M, Eymard B, Fardeau M, Boland A, Deleuze JF, Thompson J, Carlier RY, Böhm J, Romero NB, Laporte J.

Ann Neurol. 2017 Mar;81(3):467-473. doi: 10.1002/ana.24900. Epub 2017 Mar 20.

PMID:
28220527
44.

Hyperckemia and myalgia are common presentations of anoctamin-5-related myopathy in French patients.

Papadopoulos C, LaforÊt P, Nectoux J, Stojkovic T, Wahbi K, Carlier RY, Carlier PG, Leonard-Louis S, Leturcq F, Romero N, Eymard B, Behin A.

Muscle Nerve. 2017 Dec;56(6):1096-1100. doi: 10.1002/mus.25608. Epub 2017 Apr 10.

PMID:
28187523
45.

Mononuclear ruthenium compounds bearing N-donor and N-heterocyclic carbene ligands: structure and oxidative catalysis.

Liu HJ, Gil-Sepulcre M, Francàs L, Nolis P, Parella T, Benet-Buchholz J, Fontrodona X, García-Antón J, Romero N, Llobet A, Escriche L, Bofill R, Sala X.

Dalton Trans. 2017 Feb 28;46(9):2829-2843. doi: 10.1039/c6dt04729g.

PMID:
28177011
46.

Assessment of Implicit Self-Esteem in Older Adults: The Role of Actual and Ideal Self-Esteem in Negative Mood.

Demeyer I, Romero N, De Raedt R.

Assessment. 2018 Apr;25(3):302-309. doi: 10.1177/1073191117691607. Epub 2017 Feb 5.

PMID:
28161971
47.

Medication adherence in patients with juvenile idiopathic arthritis.

Adriano LS, de França Fonteles MM, de Fátima Menezes Azevedo M, Beserra MP, Romero NR.

Rev Bras Reumatol Engl Ed. 2017 Jan - Feb;57(1):23-29. doi: 10.1016/j.rbre.2016.05.004. Epub 2016 May 30. English, Portuguese.

48.

Non-Lytic Egression of Infectious Bursal Disease Virus (IBDV) Particles from Infected Cells.

Méndez F, Romero N, Cubas LL, Delgui LR, Rodríguez D, Rodríguez JF.

PLoS One. 2017 Jan 17;12(1):e0170080. doi: 10.1371/journal.pone.0170080. eCollection 2017.

49.

ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.

Böhm J, Bulla M, Urquhart JE, Malfatti E, Williams SG, O'Sullivan J, Szlauer A, Koch C, Baranello G, Mora M, Ripolone M, Violano R, Moggio M, Kingston H, Dawson T, DeGoede CG, Nixon J, Boland A, Deleuze JF, Romero N, Newman WG, Demaurex N, Laporte J.

Hum Mutat. 2017 Apr;38(4):426-438. doi: 10.1002/humu.23172. Epub 2017 Feb 2.

PMID:
28058752
50.

Homozygous truncating mutation in prenatally expressed skeletal isoform of TTN gene results in arthrogryposis multiplex congenita and myopathy without cardiac involvement.

Fernández-Marmiesse A, Carrascosa-Romero MC, Alfaro Ponce B, Nascimento A, Ortez C, Romero N, Palacios L, Jimenez-Mallebrera C, Jou C, Gouveia S, Couce ML.

Neuromuscul Disord. 2017 Feb;27(2):188-192. doi: 10.1016/j.nmd.2016.11.002. Epub 2016 Nov 11.

PMID:
28040389

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