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Items: 46

1.

Heterozygous Variants in KMT2E Cause a Spectrum of Neurodevelopmental Disorders and Epilepsy.

O'Donnell-Luria AH, Pais LS, Faundes V, Wood JC, Sveden A, Luria V, Abou Jamra R, Accogli A, Amburgey K, Anderlid BM, Azzarello-Burri S, Basinger AA, Bianchini C, Bird LM, Buchert R, Carre W, Ceulemans S, Charles P, Cox H, Culliton L, Currò A; Deciphering Developmental Disorders (DDD) Study, Demurger F, Dowling JJ, Duban-Bedu B, Dubourg C, Eiset SE, Escobar LF, Ferrarini A, Haack TB, Hashim M, Heide S, Helbig KL, Helbig I, Heredia R, Héron D, Isidor B, Jonasson AR, Joset P, Keren B, Kok F, Kroes HY, Lavillaureix A, Lu X, Maas SM, Maegawa GHB, Marcelis CLM, Mark PR, Masruha MR, McLaughlin HM, McWalter K, Melchinger EU, Mercimek-Andrews S, Nava C, Pendziwiat M, Person R, Ramelli GP, Ramos LLP, Rauch A, Reavey C, Renieri A, Rieß A, Sanchez-Valle A, Sattar S, Saunders C, Schwarz N, Smol T, Srour M, Steindl K, Syrbe S, Taylor JC, Telegrafi A, Thiffault I, Trauner DA, van der Linden H Jr, van Koningsbruggen S, Villard L, Vogel I, Vogt J, Weber YG, Wentzensen IM, Widjaja E, Zak J, Baxter S, Banka S, Rodan LH.

Am J Hum Genet. 2019 Jun 6;104(6):1210-1222. doi: 10.1016/j.ajhg.2019.03.021. Epub 2019 May 9.

PMID:
31079897
2.

The cerebellar histiocytosis: Progressive ataxia is not always a genetic disease.

de Assis Franco I, Aragão MM, Braga-Neto P, Avelino MA, Pedroso JL, Marussi VHR, Freitas LF, Masruha MR, Barsottini OGP.

Neurology. 2018 Aug 21;91(8):357-359. doi: 10.1212/WNL.0000000000006036. Epub 2018 Jul 18. No abstract available.

PMID:
30021921
3.

Virtual Rehabilitation through Nintendo Wii in Poststroke Patients: Follow-Up.

Carregosa AA, Aguiar Dos Santos LR, Masruha MR, Coêlho MLDS, Machado TC, Souza DCB, Passos GLL, Fonseca EP, Ribeiro NMDS, de Souza Melo A.

J Stroke Cerebrovasc Dis. 2018 Feb;27(2):494-498. doi: 10.1016/j.jstrokecerebrovasdis.2017.09.029.

PMID:
29100855
4.

Anti-N-methyl-D-aspartate receptor encephalitis and Epstein-Barr virus: another tale on autoimmunity?

Danieli D, Moraes ACM, Alves MP, Dutra LA, Höftberger R, Barsottini OGP, Masruha MR.

Eur J Neurol. 2017 Aug;24(8):e46-e47. doi: 10.1111/ene.13332. No abstract available.

PMID:
28707812
5.

Middle Cerebellar Peduncles T2-Hyperintense Signal in Fazio-Londe Syndrome.

Franco IA, Aragão MM, Poretti A, Silva MCVD, Diogo WJDG, Masruha MR.

Neuropediatrics. 2017 Oct;48(5):396-397. doi: 10.1055/s-0036-1597674. Epub 2016 Dec 26. No abstract available.

PMID:
28024308
6.

ACTH-induced dyskinesia in a child with West syndrome (infantile spasms).

Arita JH, Vale TC, Pedroso JL, Faria EC, Arita FN, Masruha MR, Barsottini OG.

Parkinsonism Relat Disord. 2016 Mar;24:145-6. doi: 10.1016/j.parkreldis.2016.01.004. Epub 2016 Jan 9. No abstract available.

PMID:
26810914
7.

Extensive Asymmetric Pattern in Cerebral X-Linked Adrenoleukodystrophy.

Magalhães JS, Siqueira Ede S, Masruha MR.

Pediatr Neurol. 2016 Jan;54:99. doi: 10.1016/j.pediatrneurol.2015.08.005. Epub 2015 Sep 3. No abstract available.

PMID:
26459739
8.

The Use of Nintendo Wii in the Rehabilitation of Poststroke Patients: A Systematic Review.

Dos Santos LR, Carregosa AA, Masruha MR, Dos Santos PA, Da Silveira Coêlho ML, Ferraz DD, Da Silva Ribeiro NM.

J Stroke Cerebrovasc Dis. 2015 Oct;24(10):2298-305. doi: 10.1016/j.jstrokecerebrovasdis.2015.06.010. Epub 2015 Aug 21. Review.

PMID:
26303792
9.

Virtual rehabilitation via Nintendo Wii® and conventional physical therapy effectively treat post-stroke hemiparetic patients.

da Silva Ribeiro NM, Ferraz DD, Pedreira É, Pinheiro Í, da Silva Pinto AC, Neto MG, Dos Santos LR, Pozzato MG, Pinho RS, Masruha MR.

Top Stroke Rehabil. 2015 Aug;22(4):299-305. doi: 10.1179/1074935714Z.0000000017. Epub 2015 Feb 25.

PMID:
26258455
10.

Detection of Cerebral Vasculopathy by Transcranial Doppler in Children With Neurofibromatosis Type 1.

Paschoal JK, Paschoal FM Jr, de Lima FT, Pinho RS, Vilanova LC, Bor-Seng-Shu E, Masruha MR.

J Child Neurol. 2016 Mar;31(3):351-6. doi: 10.1177/0883073815595080. Epub 2015 Jul 16.

PMID:
26184486
11.

[Chorea: a rare manifestation of Takayasu's arteritis].

Lopes AS, Clemente G, Len CA, Masruha MR, Terreri MT.

Rev Bras Reumatol. 2015 Jul-Aug;55(4):384-6. doi: 10.1016/j.rbr.2013.09.003. Epub 2014 Aug 29. Portuguese.

12.

Neonatal SCA2 Presenting With Choreic Movements and Dystonia With Dystonic Jerks, Retinitis, Seizures, and Hypotonia.

Avelino MA, Pedroso JL, Orlacchio A, Barsottini OGP, Masruha MR.

Mov Disord Clin Pract. 2014 Jun 11;1(3):252-254. doi: 10.1002/mdc3.12050. eCollection 2014 Sep. No abstract available.

13.

Migraine is frequent in children and adolescents with neurofibromatosis type 1.

Pinho RS, Fusão EF, Paschoal JKSF, Caran EMM, Minett TSC, Vilanova LCP, Masruha MR.

Pediatr Int. 2014 Dec;56(6):865-867. doi: 10.1111/ped.12375. Epub 2014 Nov 5.

PMID:
24832054
14.

Inherited manganism: the "cock-walk" gait and typical neuroimaging features.

Avelino MA, Fusão EF, Pedroso JL, Arita JH, Ribeiro RT, Pinho RS, Tuschl K, Barsottini OG, Masruha MR.

J Neurol Sci. 2014 Jun 15;341(1-2):150-2. doi: 10.1016/j.jns.2014.03.057. Epub 2014 Apr 4.

PMID:
24746291
15.

An unusual cause of blindness: infarction in the bilateral lateral geniculate bodies.

Silva RR, Penna ER, Fusão EF, Faria EC, Pinho RS, Pereira Vilanova LC, Masruha MR.

J Stroke Cerebrovasc Dis. 2014 Jul;23(6):1736-7. doi: 10.1016/j.jstrokecerebrovasdis.2014.01.004. Epub 2014 Mar 25.

PMID:
24674956
16.

Psychiatric symptoms may contribute to poor quality of life in adolescents with migraine.

Paschoal JK, Lin J, Pinho RS, Andreoni S, Minett TS, Vitalle MS, Fisberg M, Peres MF, Vilanova LC, Masruha MR.

Pediatr Int. 2013 Dec;55(6):741-7. doi: 10.1111/ped.12178. Epub 2013 Sep 20.

PMID:
23829487
17.

Trigger factors mainly from the environmental type are reported by adolescents with migraine.

Fraga MD, Pinho RS, Andreoni S, Vitalle MS, Fisberg M, Peres MF, Vilanova LC, Masruha MR.

Arq Neuropsiquiatr. 2013 May;71(5):290-3. Epub 2013 Mar 26.

18.

Mongolian spots are not always a benign sign.

Hackbart BA, Arita JH, Pinho RS, Masruha MR, Vilanova LC.

J Pediatr. 2013 May;162(5):1070. doi: 10.1016/j.jpeds.2012.12.044. Epub 2013 Jan 30. No abstract available.

PMID:
23374678
19.

Chin tremor in full-term neonate after hypoxia.

Scattolin MA, Marx C, Guinsburg R, Masruha MR, Vilanova LC.

Sao Paulo Med J. 2012;130(6):409-12.

20.

Sleep terrors antecedent is common in adolescents with migraine.

Fialho LM, Pinho RS, Lin J, Minett TS, Vitalle MS, Fisberg M, Peres MF, Vilanova LC, Masruha MR.

Arq Neuropsiquiatr. 2013 Feb;71(2):83-6. Epub 2013 Jan 11.

21.

Teaching video neuroimages: gelastic cataplexy as the first neurologic manifestation of Niemann-Pick disease type C.

Pedroso JL, Fusão EF, Ladeia-Frota C, Arita JH, Barsottini OG, Masruha MR, Vilanova LC.

Neurology. 2012 Nov 27;79(22):e189. doi: 10.1212/WNL.0b013e31827597bf.

PMID:
23183285
22.

Adolescents with chronic migraine commonly exhibit depressive symptoms.

Arita JH, Lin J, Pinho RS, Minett TS, de Souza Vitalle MS, Fisberg M, Peres MF, Vilanova LC, Masruha MR.

Acta Neurol Belg. 2013 Mar;113(1):61-5. doi: 10.1007/s13760-012-0135-9. Epub 2012 Oct 2.

PMID:
23055110
23.

Neurotuberculosis: an overview.

Rodrigues MG, da Rocha AJ, Masruha MR, Minett TS.

Cent Nerv Syst Agents Med Chem. 2011 Dec 1;11(4):246-60. Review.

PMID:
22300226
24.

Social anxiety score is high in adolescents with chronic migraine.

Masruha MR, Lin J, Minett TS, Vitalle MS, Fisberg M, Vilanova LC, Peres MF.

Pediatr Int. 2012 Jun;54(3):393-6. doi: 10.1111/j.1442-200X.2011.03555.x. Epub 2012 Mar 28.

PMID:
22212520
25.

Pediatric central nervous system tumors: a single-center experience from 1989 to 2009.

Pinho RS, Andreoni S, Silva NS, Cappellano AM, Masruha MR, Cavalheiro S, Vilanova LC.

J Pediatr Hematol Oncol. 2011 Dec;33(8):605-9. doi: 10.1097/MPH.0b013e31822031d9.

PMID:
22031123
26.

Hemifacial spasm as a manifestation of pilocytic astrocytoma in a pediatric patient.

Masruha MR, Fialho LM, da Nóbrega MV, Lin J, Pinho RS, Cavalheiro S, Vilanova LC.

J Pediatr Neurosci. 2011 Jan;6(1):72-3. doi: 10.4103/1817-1745.84415.

27.

Sensitivity to aversive stimulation, posttraumatic symptoms and migraines: what do they have in common?

Corchs F, Mercante JP, Guendler VZ, Masruha MR, Vieira DS, Bernik MA, Zukerman E, Peres JF, Peres MF.

Med Hypotheses. 2011 Oct;77(4):534-5. doi: 10.1016/j.mehy.2011.06.024. Epub 2011 Jul 16.

PMID:
21763077
28.

Neurocutaneous melanosis: follow-up and literature review.

Scattolin MA, Lin J, Peruchi MM, Rocha AJ, Masruha MR, Vilanova LC.

J Neuroradiol. 2011 Dec;38(5):313-8. doi: 10.1016/j.neurad.2011.02.007. Epub 2011 Apr 13. Review.

PMID:
21489630
29.

Prognostic factors predicting a fatal outcome in HIV-negative children with neurotuberculosis.

Rodrigues MG, Lin J, Masruha MR, Vilanova LC, Minett TS.

Arq Neuropsiquiatr. 2010 Oct;68(5):755-60.

30.

Urinary 6-sulphatoxymelatonin levels are depressed in chronic migraine and several comorbidities.

Masruha MR, Lin J, de Souza Vieira DS, Minett TS, Cipolla-Neto J, Zukerman E, Vilanova LC, Peres MF.

Headache. 2010 Mar;50(3):413-9. doi: 10.1111/j.1526-4610.2009.01547.x. Epub 2009 Oct 8.

PMID:
19817880
31.

Fulminant idiopathic intracranial hypertension in a pediatric patient following a minor head trauma.

Lin J, Fernandes JK, Faria EC, Pinho RS, Masruha MR, Vilanova LC.

Arq Neuropsiquiatr. 2009 Jun;67(2B):519-22. No abstract available.

32.

Self-aggression and congenital clubfoot: additional features to the septo-optic dysplasia complex.

Lin J, Peruchi MM, Masruha MR, Pacheco JP, Vilanova LC.

Arq Neuropsiquiatr. 2009 Jun;67(2A):299-301. No abstract available.

33.

Trigger factors in migraine patients.

Fukui PT, Gonçalves TR, Strabelli CG, Lucchino NM, Matos FC, Santos JP, Zukerman E, Zukerman-Guendler V, Mercante JP, Masruha MR, Vieira DS, Peres MF.

Arq Neuropsiquiatr. 2008 Sep;66(3A):494-9.

34.

Low urinary 6-sulphatoxymelatonin concentrations in acute migraine.

Masruha MR, de Souza Vieira DS, Minett TS, Cipolla-Neto J, Zukerman E, Vilanova LC, Peres MF.

J Headache Pain. 2008 Aug;9(4):221-4. doi: 10.1007/s10194-008-0047-5. Epub 2008 Jul 2.

35.

Cystic leukoencephalopathy without megalencephaly.

Faria EC, Arita JH, Peruchi MM, Lin J, Masruha MR, Vilanova LC.

Arq Neuropsiquiatr. 2008 Jun;66(2A):261-3. No abstract available.

36.

Benign neonatal sleep myoclonus.

Marx C, Masruha MR, Garzon E, Vilanova LC.

Epileptic Disord. 2008 Jun;10(2):177-80. doi: 10.1684/epd.2008.0196.

37.

Primary diffuse leptomeningeal gliomatosis.

Gonçalves AL, Masruha MR, Carrete H Jr, Stávale JN, Silva NS, Vilanova LC.

Arq Neuropsiquiatr. 2008 Mar;66(1):85-7. No abstract available.

38.

Idiopathic intracranial hypertension with and without papilloedema in a consecutive series of patients with chronic migraine.

Vieira DS, Masruha MR, Gonçalves AL, Zukerman E, Senne Soares CA, Naffah-Mazzacoratti Mda G, Peres MF.

Cephalalgia. 2008 Jun;28(6):609-13. doi: 10.1111/j.1468-2982.2008.01564.x. Epub 2008 Mar 31.

PMID:
18384415
39.

Pyridoxine-dependent epilepsy initially responsive to phenobarbital.

Lin J, Lin K, Masruha MR, Vilanova LC.

Arq Neuropsiquiatr. 2007 Dec;65(4A):1026-9.

40.

Toxocariasis of the CNS simulating acute disseminated encephalomyelitis.

Marx C, Lin J, Masruha MR, Rodrigues MG, da Rocha AJ, Vilanova LC, Gabbai AA.

Neurology. 2007 Aug 21;69(8):806-7. No abstract available.

PMID:
17709716
41.

Phobias, other psychiatric comorbidities and chronic migraine.

Corchs F, Mercante JP, Guendler VZ, Vieira DS, Masruha MR, Moreira FR, Bernik M, Zukerman E, Peres MF.

Arq Neuropsiquiatr. 2006 Dec;64(4):950-3.

42.
43.

Potential therapeutic use of melatonin in migraine and other headache disorders.

Peres MF, Masruha MR, Zukerman E, Moreira-Filho CA, Cavalheiro EA.

Expert Opin Investig Drugs. 2006 Apr;15(4):367-75. Review.

PMID:
16548786
44.

Mutation in filamin A causes periventricular heterotopia, developmental regression, and West syndrome in males.

Masruha MR, Caboclo LO, Carrete H Jr, Cendes IL, Rodrigues MG, Garzon E, Yacubian EM, Sakamoto AC, Sheen V, Harney M, Neal J, Hill RS, Bodell A, Walsh C, Vilanova LC.

Epilepsia. 2006 Jan;47(1):211-4.

45.

Fibrodysplasia ossificans progressiva: case report.

Gonçalves AL, Masruha MR, de Campos CC, Delai PL, Vilanova LC.

Arq Neuropsiquiatr. 2005 Dec;63(4):1090-3. Epub 2005 Dec 15.

46.

Drug induced pseudolymphoma secondary to ethosuximide.

Masruha MR, Marques CM, Vilanova LC, de Seixas Alves MT, Peres MF, Rodrigues MG.

J Neurol Neurosurg Psychiatry. 2005 Nov;76(11):1610. No abstract available.

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