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Page 1
A novel mouse model of cerebral adrenoleukodystrophy highlights NLRP3 activity in lesion pathogenesis.
Hashemi E, Narain Srivastava I, Aguirre A, Tilahan Yoseph E, Kaushal E, Awani A, Kyu Ryu J, Akassoglou K, Talebian S, Chu P, Pisani L, Musolino P, Steinman L, Doyle K, Robinson WH, Sharpe O, Cayrol R, Orchard P, Lund T, Vogel H, Lenail M, Han MH, Bonkowsky JL, Van Haren KP. Hashemi E, et al. Among authors: van haren kp. bioRxiv [Preprint]. 2023 Nov 10:2023.11.07.564025. doi: 10.1101/2023.11.07.564025. bioRxiv. 2023. PMID: 37986739 Free PMC article. Preprint.
Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.
Armangue T, Orsini JJ, Takanohashi A, Gavazzi F, Conant A, Ulrick N, Morrissey MA, Nahhas N, Helman G, Gordish-Dressman H, Orcesi S, Tonduti D, Stutterd C, van Haren K, Toro C, Iglesias AD, van der Knaap MS, Goldbach Mansky R, Moser AB, Jones RO, Vanderver A. Armangue T, et al. Mol Genet Metab. 2017 Nov;122(3):134-139. doi: 10.1016/j.ymgme.2017.07.006. Epub 2017 Jul 20. Mol Genet Metab. 2017. PMID: 28739201 Free PMC article.
Acute Flaccid Myelitis of Unknown Etiology in California, 2012-2015.
Van Haren K, Ayscue P, Waubant E, Clayton A, Sheriff H, Yagi S, Glenn-Finer R, Padilla T, Strober JB, Aldrovandi G, Wadford DA, Chiu CY, Xia D, Harriman K, Watt JP, Glaser CA. Van Haren K, et al. JAMA. 2015 Dec 22-29;314(24):2663-71. doi: 10.1001/jama.2015.17275. JAMA. 2015. PMID: 26720027
De novo mutations in the motor domain of KIF1A cause cognitive impairment, spastic paraparesis, axonal neuropathy, and cerebellar atrophy.
Lee JR, Srour M, Kim D, Hamdan FF, Lim SH, Brunel-Guitton C, Décarie JC, Rossignol E, Mitchell GA, Schreiber A, Moran R, Van Haren K, Richardson R, Nicolai J, Oberndorff KM, Wagner JD, Boycott KM, Rahikkala E, Junna N, Tyynismaa H, Cuppen I, Verbeek NE, Stumpel CT, Willemsen MA, de Munnik SA, Rouleau GA, Kim E, Kamsteeg EJ, Kleefstra T, Michaud JL. Lee JR, et al. Hum Mutat. 2015 Jan;36(1):69-78. doi: 10.1002/humu.22709. Epub 2014 Nov 27. Hum Mutat. 2015. PMID: 25265257
Clinical approach to the diagnosis of autoimmune encephalitis in the pediatric patient.
Cellucci T, Van Mater H, Graus F, Muscal E, Gallentine W, Klein-Gitelman MS, Benseler SM, Frankovich J, Gorman MP, Van Haren K, Dalmau J, Dale RC. Cellucci T, et al. Neurol Neuroimmunol Neuroinflamm. 2020 Jan 17;7(2):e663. doi: 10.1212/NXI.0000000000000663. Print 2020 Mar. Neurol Neuroimmunol Neuroinflamm. 2020. PMID: 31953309 Free PMC article.
The unfolded protein response in vanishing white matter disease.
van der Voorn JP, van Kollenburg B, Bertrand G, Van Haren K, Scheper GC, Powers JM, van der Knaap MS. van der Voorn JP, et al. J Neuropathol Exp Neurol. 2005 Sep;64(9):770-5. doi: 10.1097/01.jnen.0000178446.41595.3a. J Neuropathol Exp Neurol. 2005. PMID: 16141786
Therapeutic advances in pediatric multiple sclerosis.
Van Haren K, Waubant E. Van Haren K, et al. J Pediatr. 2013 Sep;163(3):631-7. doi: 10.1016/j.jpeds.2013.04.028. Epub 2013 May 30. J Pediatr. 2013. PMID: 23726542 Review. No abstract available.
54 results