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Identification of a novel CNTNAP1 mutation causing arthrogryposis multiplex congenita with cerebral and cerebellar atrophy.
Eur J Med Genet. 2017 May;60(5):245-249. doi: 10.1016/j.ejmg.2017.02.006. Epub 2017 Feb 27.
Eur J Med Genet. 2017.
PMID: 28254648
Free PMC article.
De novo PIK3R2 variant causes polymicrogyria, corpus callosum hyperplasia and focal cortical dysplasia.
Terrone G, Voisin N, Abdullah Alfaiz A, Cappuccio G, Vitiello G, Guex N, D'Amico A, James Barkovich A, Brunetti-Pierri N, Del Giudice E, Reymond A.
Terrone G, et al. Among authors: james barkovich a.
Eur J Hum Genet. 2016 Aug;24(9):1359-62. doi: 10.1038/ejhg.2016.7. Epub 2016 Feb 10.
Eur J Hum Genet. 2016.
PMID: 26860062
Free PMC article.
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Long-term cognitive outcomes in term newborns with watershed injury caused by neonatal encephalopathy.
Lee BL, Gano D, Rogers EE, Xu D, Cox S, James Barkovich A, Li Y, Ferriero DM, Glass HC.
Lee BL, et al. Among authors: james barkovich a.
Pediatr Res. 2022 Aug;92(2):505-512. doi: 10.1038/s41390-021-01526-2. Epub 2021 Oct 26.
Pediatr Res. 2022.
PMID: 34702974
Free PMC article.
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Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia.
Yokoyama JS, Karch CM, Fan CC, Bonham LW, Kouri N, Ross OA, Rademakers R, Kim J, Wang Y, Höglinger GU, Müller U, Ferrari R, Hardy J; International FTD-Genomics Consortium (IFGC); Momeni P, Sugrue LP, Hess CP, James Barkovich A, Boxer AL, Seeley WW, Rabinovici GD, Rosen HJ, Miller BL, Schmansky NJ, Fischl B, Hyman BT, Dickson DW, Schellenberg GD, Andreassen OA, Dale AM, Desikan RS.
Yokoyama JS, et al. Among authors: james barkovich a.
Acta Neuropathol. 2017 May;133(5):825-837. doi: 10.1007/s00401-017-1693-y. Epub 2017 Mar 7.
Acta Neuropathol. 2017.
PMID: 28271184
Free PMC article.
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Proceedings of the 14th International Newborn Brain Conference: Neuro-imaging studies.
Herrera S, Herrera S, Cabacungan E, Cohen S, Thyagarajan B, Jefferies K, Avanaki K, Manwar R, McGuire L, Islam T, Shoo A, Charbel FT, Pillers DM, Verschuur A, van Steenis A, Boswinkel V, Nijholt I, Boomsma M, Steggerda S, Meijler G, Leijser L, Park SG, Yang HJ, Lim SY, Kim SH, Shin SH, Kim EK, Kim HS, Shiraki A, Kidokoro H, Watanabe H, Taga G, Narita H, Mitsumatsu T, Kumai S, Suzui R, Sawamura F, Ito Y, Yamamoto H, Nakata T, Sato Y, Hayakawa M, Natsume J, Buchmayer J, Kasprian G, Giordano V, Jernej R, Klebermass-Schrehof K, Berger A, Goeral K, Garvey A, El-Shibiny H, Yang E, Inder T, El-Dib M, Garvey A, Grant E, Manning S, Volpe J, Inder T, Roychaudhuri S, Pineda R, Sharon D, Singh E, Steele T, Sheldon Y, Cuddyer D, Yang E, Erdei C, Szakmar E, Andorka C, Barta H, Sesztak T, Varga E, Szabo M, Jermendy A, Panzarini I, King R, Verschuur AS, Hendson L, Carlson H, Scotland J, Zein H, Mohammed K, Meijler G, Leijser L, Bach A, Lambing H, Rogers EE, Xu D, James BA, Ferriero DM, Glass HC, Gano D, Igreja L, Ferreira A, Gomes R, Sousa B, Novo A, Alves JE, Proença E, Carvalho C.
Herrera S, et al. Among authors: james ba.
J Neonatal Perinatal Med. 2023;16(s1):S75-S101. doi: 10.3233/NPM-239005.
J Neonatal Perinatal Med. 2023.
PMID: 37599544
No abstract available.
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