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Page 1
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Esmaeeli Nieh S, Madou MR, Sirajuddin M, Fregeau B, McKnight D, Lexa K, Strober J, Spaeth C, Hallinan BE, Smaoui N, Pappas JG, Burrow TA, McDonald MT, Latibashvili M, Leshinsky-Silver E, Lev D, Blumkin L, Vale RD, Barkovich AJ, Sherr EH. Esmaeeli Nieh S, et al. Among authors: strober j. Ann Clin Transl Neurol. 2015 Jun;2(6):623-35. doi: 10.1002/acn3.198. Epub 2015 May 1. Ann Clin Transl Neurol. 2015. PMID: 26125038 Free PMC article.
Neural stem cell engraftment and myelination in the human brain.
Gupta N, Henry RG, Strober J, Kang SM, Lim DA, Bucci M, Caverzasi E, Gaetano L, Mandelli ML, Ryan T, Perry R, Farrell J, Jeremy RJ, Ulman M, Huhn SL, Barkovich AJ, Rowitch DH. Gupta N, et al. Among authors: strober j. Sci Transl Med. 2012 Oct 10;4(155):155ra137. doi: 10.1126/scitranslmed.3004373. Sci Transl Med. 2012. PMID: 23052294 Free PMC article. Clinical Trial.
Pathogenic WDFY3 variants cause neurodevelopmental disorders and opposing effects on brain size.
Le Duc D, Giulivi C, Hiatt SM, Napoli E, Panoutsopoulos A, Harlan De Crescenzo A, Kotzaeridou U, Syrbe S, Anagnostou E, Azage M, Bend R, Begtrup A, Brown NJ, Büttner B, Cho MT, Cooper GM, Doering JH, Dubourg C, Everman DB, Hildebrand MS, Santos FJR, Kellam B, Keller-Ramey J, Lemke JR, Liu S, Niyazov D, Payne K, Person R, Quélin C, Schnur RE, Smith BT, Strober J, Walker S, Wallis M, Walsh L, Yang S, Yuen RKC, Ziegler A, Sticht H, Pride MC, Orosco L, Martínez-Cerdeño V, Silverman JL, Crawley JN, Scherer SW, Zarbalis KS, Jamra R. Le Duc D, et al. Among authors: strober j. Brain. 2019 Sep 1;142(9):2617-2630. doi: 10.1093/brain/awz198. Brain. 2019. PMID: 31327001 Free PMC article.
Long-Term Safety, Immunologic Response, and Imaging Outcomes following Neural Stem Cell Transplantation for Pelizaeus-Merzbacher Disease.
Gupta N, Henry RG, Kang SM, Strober J, Lim DA, Ryan T, Perry R, Farrell J, Ulman M, Rajalingam R, Gage A, Huhn SL, Barkovich AJ, Rowitch DH. Gupta N, et al. Among authors: strober j. Stem Cell Reports. 2019 Aug 13;13(2):254-261. doi: 10.1016/j.stemcr.2019.07.002. Epub 2019 Aug 1. Stem Cell Reports. 2019. PMID: 31378671 Free PMC article.
Neurological symptoms in individuals with fibrodysplasia ossificans progressiva.
Kitterman JA, Strober JB, Kan L, Rocke DM, Cali A, Peeper J, Snow J, Delai PL, Morhart R, Pignolo RJ, Shore EM, Kaplan FS. Kitterman JA, et al. Among authors: strober jb. J Neurol. 2012 Dec;259(12):2636-43. doi: 10.1007/s00415-012-6562-y. Epub 2012 Jun 30. J Neurol. 2012. PMID: 22752062 Free PMC article.
Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Slavotinek A, et al. Among authors: strober j. NPJ Genom Med. 2023 May 26;8(1):10. doi: 10.1038/s41525-023-00353-0. NPJ Genom Med. 2023. PMID: 37236975 Free PMC article.
Author Correction: Diagnostic yield of pediatric and prenatal exome sequencing in a diverse population.
Slavotinek A, Rego S, Sahin-Hodoglugil N, Kvale M, Lianoglou B, Yip T, Hoban H, Outram S, Anguiano B, Chen F, Michelson J, Cilio RM, Curry C, Gallagher RC, Gardner M, Kuperman R, Mendelsohn B, Sherr E, Shieh J, Strober J, Tam A, Tenney J, Weiss W, Whittle A, Chin G, Faubel A, Prasad H, Mavura Y, Van Ziffle J, Devine WP, Hodoglugil U, Martin PM, Sparks TN, Koenig B, Ackerman S, Risch N, Kwok PY, Norton ME. Slavotinek A, et al. Among authors: strober j. NPJ Genom Med. 2023 Oct 23;8(1):34. doi: 10.1038/s41525-023-00382-9. NPJ Genom Med. 2023. PMID: 37872195 Free PMC article. No abstract available.
Infant botulism: review and clinical update.
Rosow LK, Strober JB. Rosow LK, et al. Pediatr Neurol. 2015 May;52(5):487-92. doi: 10.1016/j.pediatrneurol.2015.01.006. Epub 2015 Jan 21. Pediatr Neurol. 2015. PMID: 25882077 Review.
60 results