Fan Z - Search Results

1

A homozygous missense variant in the YG box domain in an individual with severe spinal muscular atrophy: a case report and variant characterization.

Li L, Perera L, Varghese SA, Shiloh-Malawsky Y, Hunter SE, Sneddon TP, Powell CM, Matera AG, Fan Z. Li L, et al. Among authors: fan z. Front Cell Neurosci. 2023 Sep 26;17:1259380. doi: 10.3389/fncel.2023.1259380. eCollection 2023. Front Cell Neurosci. 2023. PMID: 37841286 Free PMC article.

2

Successful treatment of childhood prolonged refractory status epilepticus with lacosamide.

Shiloh-Malawsky Y, Fan Z, Greenwood R, Tennison M. Shiloh-Malawsky Y, et al. Among authors: fan z. Seizure. 2011 Sep;20(7):586-8. doi: 10.1016/j.seizure.2011.03.005. Epub 2011 Apr 7. Seizure. 2011. PMID: 21474342 Free article.

3

A computerized MRI biomarker quantification scheme for a canine model of Duchenne muscular dystrophy.

Wang J, Fan Z, Vandenborne K, Walter G, Shiloh-Malawsky Y, An H, Kornegay JN, Styner MA. Wang J, et al. Among authors: fan z. Int J Comput Assist Radiol Surg. 2013 Sep;8(5):763-74. doi: 10.1007/s11548-012-0810-6. Epub 2013 Jan 9. Int J Comput Assist Radiol Surg. 2013. PMID: 23299128 Free PMC article.

4

Characteristics of magnetic resonance imaging biomarkers in a natural history study of golden retriever muscular dystrophy.

Fan Z, Wang J, Ahn M, Shiloh-Malawsky Y, Chahin N, Elmore S, Bagnell CR Jr, Wilber K, An H, Lin W, Zhu H, Styner M, Kornegay JN. Fan Z, et al. Neuromuscul Disord. 2014 Feb;24(2):178-91. doi: 10.1016/j.nmd.2013.10.005. Epub 2013 Oct 30. Neuromuscul Disord. 2014. PMID: 24295811 Free PMC article.

5

GCH1 heterozygous mutation identified by whole-exome sequencing as a treatable condition in a patient presenting with progressive spastic paraplegia.

Fan Z, Greenwood R, Felix AC, Shiloh-Malawsky Y, Tennison M, Roche M, Crooks K, Weck K, Wilhelmsen K, Berg J, Evans J. Fan Z, et al. J Neurol. 2014 Mar;261(3):622-4. doi: 10.1007/s00415-014-7265-3. Epub 2014 Feb 8. J Neurol. 2014. PMID: 24509643 Free PMC article. No abstract available.

6

A rare case of congenital myopathy with excess muscle spindles: expanding the clinical spectrum of HRAS-associated neuromuscular disease.

Henry JM, Chahin N, Shiloh-Malawsky Y, Fan Z, Selcen D. Henry JM, et al. Among authors: fan z. J Neurol. 2015 Jun;262(6):1587-9. doi: 10.1007/s00415-015-7775-7. Epub 2015 May 23. J Neurol. 2015. PMID: 26001911 No abstract available.

7

Sleep Apnea and Hypoventilation in Patients with Down Syndrome: Analysis of 144 Polysomnogram Studies.

Fan Z, Ahn M, Roth HL, Li L, Vaughn BV. Fan Z, et al. Children (Basel). 2017 Jun 30;4(7):55. doi: 10.3390/children4070055. Children (Basel). 2017. PMID: 28665356 Free PMC article.

8

Diagnostic utility of exome sequencing in the evaluation of neuromuscular disorders.

Haskell GT, Adams MC, Fan Z, Amin K, Guzman Badillo RJ, Zhou L, Bizon C, Chahin N, Greenwood RS, Milko LV, Shiloh-Malawsky Y, Crooks KR, Strande N, Tennison M, Tilley CR, Brandt A, Wilhelmsen KC, Weck K, Evans JP, Berg JS. Haskell GT, et al. Among authors: fan z. Neurol Genet. 2018 Feb 1;4(1):e212. doi: 10.1212/NXG.0000000000000212. eCollection 2018 Feb. Neurol Genet. 2018. PMID: 29417091 Free PMC article.

9

Evaluation of X-Linked Adrenoleukodystrophy Newborn Screening in North Carolina.

Lee S, Clinard K, Young SP, Rehder CW, Fan Z, Calikoglu AS, Bali DS, Bailey DB Jr, Gehtland LM, Millington DS, Patel HS, Beckloff SE, Zimmerman SJ, Powell CM, Taylor JL. Lee S, et al. Among authors: fan z. JAMA Netw Open. 2020 Jan 3;3(1):e1920356. doi: 10.1001/jamanetworkopen.2019.20356. JAMA Netw Open. 2020. PMID: 32003821 Free PMC article.

10

A Voluntary Statewide Newborn Screening Pilot for Spinal Muscular Atrophy: Results from Early Check.

Kucera KS, Taylor JL, Robles VR, Clinard K, Migliore B, Boyea BL, Okoniewski KC, Duparc M, Rehder CW, Shone SM, Fan Z, Raspa M, Peay HL, Wheeler AC, Powell CM, Bailey DB Jr, Gehtland LM. Kucera KS, et al. Among authors: fan z. Int J Neonatal Screen. 2021 Mar 21;7(1):20. doi: 10.3390/ijns7010020. Int J Neonatal Screen. 2021. PMID: 33801060 Free PMC article.

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