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Neurologic complications of Down syndrome: a systematic review.
J Neurol. 2021 Dec;268(12):4495-4509. doi: 10.1007/s00415-020-10179-w. Epub 2020 Sep 12.
J Neurol. 2021.
PMID: 32920658
Review.
Down syndrome with co-occurring Marfan syndrome.
Wei M, Lepore N, Paulsen K, Santoro JD.
Wei M, et al.
BMJ Case Rep. 2020 Sep 23;13(9):e235988. doi: 10.1136/bcr-2020-235988.
BMJ Case Rep. 2020.
PMID: 32967946
Free PMC article.
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Biotinidase Deficiency as a Mimic of Neuromyelitis Optica Spectrum Disorder in Childhood.
Santoro JD, Paulsen KC.
Santoro JD, et al. Among authors: paulsen kc.
JAMA Neurol. 2020 Oct 5;78(1):118-20. doi: 10.1001/jamaneurol.2020.3558. Online ahead of print.
JAMA Neurol. 2020.
PMID: 33016994
Free PMC article.
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Intracranial Vascular Tortuosity in an Infant With Dysmorphic Facies.
Tempchin AF, Nagesh D, Paulsen KC, Ho E, Santoro JD.
Tempchin AF, et al. Among authors: paulsen kc.
Pediatr Neurol. 2022 Jun;131:20-22. doi: 10.1016/j.pediatrneurol.2022.04.001. Epub 2022 Apr 14.
Pediatr Neurol. 2022.
PMID: 35462107
No abstract available.
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Association of rare variants in genes of immune regulation with pediatric autoimmune CNS diseases.
Jafarpour S, Banerjee A, Boyd NK, Vogel BN, Paulsen KC, Ahsan N, Mitchell WG, Jeste SS, Santoro JD.
Jafarpour S, et al. Among authors: paulsen kc.
J Neurol. 2022 Dec;269(12):6512-6529. doi: 10.1007/s00415-022-11325-2. Epub 2022 Aug 12.
J Neurol. 2022.
PMID: 35960392
Free PMC article.
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Alternative Diagnoses in the Work Up of Down Syndrome Regression Disorder.
Santoro JD, Khoshnood MM, Nguyen L, Vogel BN, Boyd NK, Paulsen KC, Rafii MS.
Santoro JD, et al. Among authors: paulsen kc.
J Autism Dev Disord. 2023 Aug 16. doi: 10.1007/s10803-023-06057-9. Online ahead of print.
J Autism Dev Disord. 2023.
PMID: 37584771
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Ophthalmologic and neuro-ophthalmologic findings in children with Down syndrome.
Jain A, Boyd NK, Paulsen KC, Vogel BN, Nguyen L, Santoro JD.
Jain A, et al. Among authors: paulsen kc.
Am J Med Genet C Semin Med Genet. 2023 Dec;193(4):e32068. doi: 10.1002/ajmg.c.32068. Epub 2023 Oct 4.
Am J Med Genet C Semin Med Genet. 2023.
PMID: 37794641
Review.
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Impact of endocrine dysregulation on disability and non-motor symptoms in pediatric onset multiple sclerosis.
Abe J, Jafarpour S, Vu MH, O'Brien D, Boyd NK, Vogel BN, Nguyen L, Paulsen KC, Saucier LE, Ahsan N, Mitchell WG, Santoro JD.
Abe J, et al. Among authors: paulsen kc.
Front Neurol. 2023 Dec 7;14:1304610. doi: 10.3389/fneur.2023.1304610. eCollection 2023.
Front Neurol. 2023.
PMID: 38130835
Free PMC article.
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