Stefans V - Search Results

1

Constitutive activation of the PI3K-AKT pathway and cardiovascular abnormalities in an individual with Kosaki overgrowth syndrome.

Zarate YA, Boccuto L, Srikanth S, Pauly R, Ocal E, Balmakund T, Hinkle K, Stefans V, Schaefer GB, Collins RT 2nd. Zarate YA, et al. Among authors: stefans v. Am J Med Genet A. 2019 Jun;179(6):1047-1052. doi: 10.1002/ajmg.a.61145. Epub 2019 Apr 2. Am J Med Genet A. 2019. PMID: 30941910 Review.

2

De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.

Tanaka AJ, Cho MT, Willaert R, Retterer K, Zarate YA, Bosanko K, Stefans V, Oishi K, Williamson A, Wilson GN, Basinger A, Barbaro-Dieber T, Ortega L, Sorrentino S, Gabriel MK, Anderson IJ, Sacoto MJG, Schnur RE, Chung WK. Tanaka AJ, et al. Among authors: stefans v. Cold Spring Harb Mol Case Stud. 2017 Nov 21;3(6):a002097. doi: 10.1101/mcs.a002097. Print 2017 Nov. Cold Spring Harb Mol Case Stud. 2017. PMID: 29162653 Free PMC article.

3

BAG3 Myopathy Presenting With Prominent Neuropathic Phenotype and No Cardiac or Respiratory Involvement: A Case Report and Literature Review.

Malatesta L, Arya K, Gokden M, Stefans V, Veerapandiyan A. Malatesta L, et al. Among authors: stefans v. J Clin Neuromuscul Dis. 2020 Jun;21(4):230-239. doi: 10.1097/CND.0000000000000300. J Clin Neuromuscul Dis. 2020. PMID: 32453099 Review.

4

GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

Jensen BS, Willer T, Saade DN, Cox MO, Mozaffar T, Scavina M, Stefans VA, Winder TL, Campbell KP, Moore SA, Mathews KD. Jensen BS, et al. Hum Mutat. 2015 Dec;36(12):1159-63. doi: 10.1002/humu.22898. Epub 2015 Sep 23. Hum Mutat. 2015. PMID: 26310427 Free PMC article.

5

Clinical and molecular spectrum of thymidine kinase 2-related mtDNA maintenance defect.

Wang J, Kim E, Dai H, Stefans V, Vogel H, Al Jasmi F, Schrier Vergano SA, Castro D, Bernes S, Bhambhani V, Long C, El-Hattab AW, Wong LJ. Wang J, et al. Among authors: stefans v. Mol Genet Metab. 2018 Jun;124(2):124-130. doi: 10.1016/j.ymgme.2018.04.012. Epub 2018 Apr 28. Mol Genet Metab. 2018. PMID: 29735374

6

A novel noncoding FKRP mutation in early onset limb-girdle muscular dystrophy.

Saylam E, Moore SA, Aravindhan A, Marton H, Nagy PL, Gokden M, Cox MO, Stefans V, Veerapandiyan A. Saylam E, et al. Among authors: stefans v. Neurol Genet. 2019 Dec 26;6(1):e388. doi: 10.1212/NXG.0000000000000388. eCollection 2020 Feb. Neurol Genet. 2019. PMID: 32042916 Free PMC article. No abstract available.

7

Toxic Myopathy due to Antidopaminergic Medication Without Neuroleptic Malignant Syndrome.

Harada Y, Virmani T, Gokden M, Stefans V. Harada Y, et al. Among authors: stefans v. J Clin Neuromuscul Dis. 2018 Dec;20(2):94-98. doi: 10.1097/CND.0000000000000233. J Clin Neuromuscul Dis. 2018. PMID: 30439755

8

Limb-Girdle Muscular Dystrophy R9 due to a Novel Complex Insertion/Duplication Variant in FKRP Gene.

Willis E, Moore SA, Cox MO, Stefans V, Aravindhan A, Gokden M, Veerapandiyan A. Willis E, et al. Among authors: stefans v. Child Neurol Open. 2022 Apr 28;9:2329048X221097518. doi: 10.1177/2329048X221097518. eCollection 2022 Jan-Dec. Child Neurol Open. 2022. PMID: 35557983 Free PMC article.

9

Combination molecular therapies for type 1 spinal muscular atrophy.

Harada Y, Rao VK, Arya K, Kuntz NL, DiDonato CJ, Napchan-Pomerantz G, Agarwal A, Stefans V, Katsuno M, Veerapandiyan A. Harada Y, et al. Among authors: stefans v. Muscle Nerve. 2020 Oct;62(4):550-554. doi: 10.1002/mus.27034. Epub 2020 Aug 10. Muscle Nerve. 2020. PMID: 32710634

10

Pseudometabolic Presentation of Dystrophinopathy in a Family Due to a Rare Nonsense Mutation.

Saylam E, Aravindhan A, Stefans V, Veerapandiyan A. Saylam E, et al. Among authors: stefans v. J Clin Neuromuscul Dis. 2020 Jun;21(4):245-246. doi: 10.1097/CND.0000000000000286. J Clin Neuromuscul Dis. 2020. PMID: 32453103 No abstract available.

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