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Items: 14

1.

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.

Brain. 2017 May 1;140(5):1316-1336. doi: 10.1093/brain/awx054.

PMID:
28379373
2.

Splice site, frameshift, and chimeric GFAP mutations in Alexander disease.

Flint D, Li R, Webster LS, Naidu S, Kolodny E, Percy A, van der Knaap M, Powers JM, Mantovani JF, Ekstein J, Goldman JE, Messing A, Brenner M.

Hum Mutat. 2012 Jul;33(7):1141-8. doi: 10.1002/humu.22094. Epub 2012 Apr 30.

3.

Definition and classification of CP: medical-legal and service implications.

Mantovani JF.

Dev Med Child Neurol Suppl. 2007 Feb;109:42. No abstract available.

PMID:
17370482
4.

Rituximab (anti-CD20) adjunctive therapy for opsoclonus-myoclonus syndrome.

Pranzatelli MR, Tate ED, Travelstead AL, Barbosa J, Bergamini RA, Civitello L, Franz DN, Greffe BS, Hanson RD, Hurwitz CA, Kalinyak KA, Kelfer H, Khakoo Y, Mantovani JF, Nicholson SH, Sanders JM, Wegner S.

J Pediatr Hematol Oncol. 2006 Sep;28(9):585-93.

PMID:
17006265
5.

Congenital disorder of glycosylation Ic in patients of Indian origin.

Newell JW, Seo NS, Enns GM, McCraken M, Mantovani JF, Freeze HH.

Mol Genet Metab. 2003 Jul;79(3):221-8.

PMID:
12855228
6.

Not knowing.

Mantovani JF.

Dev Med Child Neurol. 2003 Feb;45(2):75. No abstract available.

7.

Autistic regression and Landau-Kleffner syndrome: progress or confusion?

Mantovani JF.

Dev Med Child Neurol. 2000 May;42(5):349-53. Review. No abstract available.

8.

Outcome after neonatal stroke.

Mantovani JF.

J Pediatr. 1986 Aug;109(2):400. No abstract available.

PMID:
2426434
9.

Brain dysfunction in an adolescent with the neuromuscular form of hexosaminidase deficiency.

Mantovani JF, Vidgoff J, Cass M.

Dev Med Child Neurol. 1985 Oct;27(5):664-7.

PMID:
4065439
10.

'Idiopathic' neonatal cerebral infarction.

Mantovani JF, Gerber GJ.

Am J Dis Child. 1984 Apr;138(4):359-62.

PMID:
6702787
11.

Failure of daily lumbar punctures to prevent the development of hydrocephalus following intraventricular hemorrhage.

Mantovani JF, Pasternak JF, Mathew OP, Allan WC, Mills MT, Casper J, Volpe JJ.

J Pediatr. 1980 Aug;97(2):278-81.

PMID:
7400898
12.

Porencephaly from periventricular intracerebral hemorrhage in a premature infant.

Pasternak JF, Mantovani JF, Volpe JJ.

Am J Dis Child. 1980 Jul;134(7):673-5.

PMID:
7395828
13.

Acquired aphasia with convulsive disorder: course and prognosis.

Mantovani JF, Landau WM.

Neurology. 1980 May;30(5):524-9.

PMID:
6154270
14.

MSUD: presentation with pseudotumor cerebri and CT abnormalities.

Mantovani JF, Naidich TP, Prensky AL, Dodson WE, Williams JC.

J Pediatr. 1980 Feb;96(2):279-81. No abstract available.

PMID:
7351596

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