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Page 1
Not knowing.
Mantovani JF. Mantovani JF. Dev Med Child Neurol. 2003 Feb;45(2):75. Dev Med Child Neurol. 2003. PMID: 12578231 Free article. No abstract available.
Genetic and phenotypic heterogeneity suggest therapeutic implications in SCN2A-related disorders.
Wolff M, Johannesen KM, Hedrich UBS, Masnada S, Rubboli G, Gardella E, Lesca G, Ville D, Milh M, Villard L, Afenjar A, Chantot-Bastaraud S, Mignot C, Lardennois C, Nava C, Schwarz N, Gérard M, Perrin L, Doummar D, Auvin S, Miranda MJ, Hempel M, Brilstra E, Knoers N, Verbeek N, van Kempen M, Braun KP, Mancini G, Biskup S, Hörtnagel K, Döcker M, Bast T, Loddenkemper T, Wong-Kisiel L, Baumeister FM, Fazeli W, Striano P, Dilena R, Fontana E, Zara F, Kurlemann G, Klepper J, Thoene JG, Arndt DH, Deconinck N, Schmitt-Mechelke T, Maier O, Muhle H, Wical B, Finetti C, Brückner R, Pietz J, Golla G, Jillella D, Linnet KM, Charles P, Moog U, Õiglane-Shlik E, Mantovani JF, Park K, Deprez M, Lederer D, Mary S, Scalais E, Selim L, Van Coster R, Lagae L, Nikanorova M, Hjalgrim H, Korenke GC, Trivisano M, Specchio N, Ceulemans B, Dorn T, Helbig KL, Hardies K, Stamberger H, de Jonghe P, Weckhuysen S, Lemke JR, Krägeloh-Mann I, Helbig I, Kluger G, Lerche H, Møller RS. Wolff M, et al. Among authors: mantovani jf. Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054. Brain. 2017. PMID: 28379373
De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects.
Manole A, Efthymiou S, O'Connor E, Mendes MI, Jennings M, Maroofian R, Davagnanam I, Mankad K, Lopez MR, Salpietro V, Harripaul R, Badalato L, Walia J, Francklyn CS, Athanasiou-Fragkouli A, Sullivan R, Desai S, Baranano K, Zafar F, Rana N, Ilyas M, Horga A, Kara M, Mattioli F, Goldenberg A, Griffin H, Piton A, Henderson LB, Kara B, Aslanger AD, Raaphorst J, Pfundt R, Portier R, Shinawi M, Kirby A, Christensen KM, Wang L, Rosti RO, Paracha SA, Sarwar MT, Jenkins D; SYNAPS Study Group; Ahmed J, Santoni FA, Ranza E, Iwaszkiewicz J, Cytrynbaum C, Weksberg R, Wentzensen IM, Guillen Sacoto MJ, Si Y, Telegrafi A, Andrews MV, Baldridge D, Gabriel H, Mohr J, Oehl-Jaschkowitz B, Debard S, Senger B, Fischer F, van Ravenwaaij C, Fock AJM, Stevens SJC, Bähler J, Nasar A, Mantovani JF, Manzur A, Sarkozy A, Smith DEC, Salomons GS, Ahmed ZM, Riazuddin S, Riazuddin S, Usmani MA, Seibt A, Ansar M, Antonarakis SE, Vincent JB, Ayub M, Grimmel M, Jelsig AM, Hjortshøj TD, Karstensen HG, Hummel M, Haack TB, Jamshidi Y, Distelmaier F, Horvath R, Gleeson JG, Becker H, Mandel JL, Koolen DA, Houlden H. Manole A, et al. Among authors: mantovani jf. Am J Hum Genet. 2020 Aug 6;107(2):311-324. doi: 10.1016/j.ajhg.2020.06.016. Epub 2020 Jul 31. Am J Hum Genet. 2020. PMID: 32738225 Free PMC article.
'Treat the patient, not the EEG'?
Mantovani J. Mantovani J. Dev Med Child Neurol. 2000 Sep;42(9):579. doi: 10.1017/s0012162200001092. Dev Med Child Neurol. 2000. PMID: 11034449 Free article. No abstract available.
N-Acetylcysteine--a safe antidote for cysteine/glutathione deficiency.
Atkuri KR, Mantovani JJ, Herzenberg LA, Herzenberg LA. Atkuri KR, et al. Among authors: mantovani jj. Curr Opin Pharmacol. 2007 Aug;7(4):355-9. doi: 10.1016/j.coph.2007.04.005. Epub 2007 Jun 29. Curr Opin Pharmacol. 2007. PMID: 17602868 Free PMC article. Review.
NEOTROPICAL CARNIVORES: a data set on carnivore distribution in the Neotropics.
Nagy-Reis M, Oshima JEF, Kanda CZ, Palmeira FBL, de Melo FR, Morato RG, Bonjorne L, Magioli M, Leuchtenberger C, Rohe F, Lemos FG, Martello F, Alves-Eigenheer M, da Silva RA, Silveira Dos Santos J, Priante CF, Bernardo R, Rogeri P, Assis JC, Gaspar LP, Tonetti VR, Trinca CT, Ribeiro AS, Bocchiglieri A, Hass A, Canteri A, Chiarello AG, Paglia AP, Pereira AA, de Souza AC, Gatica A, Medeiro AZ, Eriksson A, Costa AN, González-Gallina A, Yanosky AA, Jesus de la Cruz A, Bertassoni A, Bager A, Bovo AAA, Cravino Mol A, Bezerra AMR, Percequillo A, Vogliotti A, Costa Lopes AM, Keuroghlian A, Zúñiga Hartley AC, Devlin AL, de Paula A, García-Olaechea A, Sánchez A, Aquino ACMM, Srbek-Araujo AC, Ochoa AC, Tomazzoni AC, Lacerda ACR, Bacellar AEF, Campelo AKN, Herrera Victoria AM, Paschoal AMO, Potrich AP, Gomes APN, Olímpio APM, Cunha Costa AR, Jácomo ATA, Calaça AM, Jesus AS, de Barros Barban A, Feijó A, Pagoto A, Rolim AC, Hermann AP, Souza ASMCE, Chein Alonso A, Monteiro A, Mendonça AF, Luza AL, Moura ALB, da Silva ALF, Lanna AM, Antunes AP, Nunes AV, Dechner A, Carvalho AS, Novaro AJ, Scabin AB, Gatti A, Nobre AB, Montanarin A, Deffaci ÂC, de Albuquerque ACF, Mangione AM, Pinto AMS, Mendes P… See abstract for full author list ➔ Nagy-Reis M, et al. Among authors: mantovani je. Ecology. 2020 Nov;101(11):e03128. doi: 10.1002/ecy.3128. Ecology. 2020. PMID: 32862433
Screening of connexin 26 in nonsyndromic hearing loss.
Moreira D, Silva Dd, Lopez P, Mantovani JC. Moreira D, et al. Among authors: mantovani jc. Int Arch Otorhinolaryngol. 2015 Jan;19(1):30-3. doi: 10.1055/s-0034-1373783. Epub 2014 Apr 11. Int Arch Otorhinolaryngol. 2015. PMID: 25992148 Free PMC article.
52 results