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Todor Arsov

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Recent Articles
11.
Arsov T, Xie C, Shen N, Andrews D, Vinuesa C, Vaskova O
Thyroid Res . 2019 Jul; 12:7. PMID: 31341516
Background: Resistance to thyroid hormones is a very rare condition, which is often misdiagnosed and mistreated. The cases where there is a concomitant autoimmune thyroid disorder are ultra-rare and particularly...
12.
Jiang S, Athanasopoulos V, Ellyard J, Chuah A, Cappello J, Cook A, et al.
Nat Commun . 2019 May; 10(1):2201. PMID: 31101814
Systemic lupus erythematosus (SLE) is the prototypic systemic autoimmune disease. It is thought that many common variant gene loci of weak effect act additively to predispose to common autoimmune diseases,...
13.
Arsov T, Sestan M, cekada N, Frkovic M, Andrews D, He Y, et al.
Eur J Med Genet . 2018 Sep; 62(6):103538. PMID: 30213761
We report a case of a 17-year-old Caucasian girl with syndromic features of clinically unrecognized Kabuki syndrome (KS), who developed systemic lupus erythematosus (SLE). Diagnosis of KS was established after...
14.
Kivity S, Oliver K, Afawi Z, Damiano J, Arsov T, Bahlo M, et al.
Epilepsy Res . 2017 Feb; 131:9-14. PMID: 28192756
Introduction: Amongst autosomal dominant genetic epilepsy with febrile seizures plus (GEFS+) families, SCN1A variants are the most common genetic cause. Initially regarded as a generalized form of epilepsy, the GEFS+...
15.
Damiano J, Mullen S, Hildebrand M, Bellows S, Lawrence K, Arsov T, et al.
Epilepsy Res . 2015 Oct; 117:70-3. PMID: 26421493
The chromosome 15q13.3 region has been implicated in epilepsy, intellectual disability and neuropsychiatric disorders, especially schizophrenia. Deficiency of the acetylcholine receptor gene CHRNA7 and the partial duplication, CHRFAM7A, may contribute...
16.
Damiano J, Afawi Z, Bahlo M, Mauermann M, Misk A, Arsov T, et al.
Hum Mol Genet . 2015 May; 24(16):4483-90. PMID: 25954030
We studied a consanguineous Palestinian Arab family segregating an autosomal recessive progressive myoclonus epilepsy (PME) with early ataxia. PME is a rare, often fatal syndrome, initially responsive to antiepileptic drugs...
17.
Farrell G, Mridha A, Yeh M, Arsov T, Van Rooyen D, Brooling J, et al.
Liver Int . 2013 Oct; 34(7):1084-93. PMID: 24107103
Background & Aims: Obese Alms1 mutant (foz/foz) NOD.B10 mice develop diabetes and fibrotic NASH when fed high-fat(HF) diet. To establish whether diabetes or obesity is more closely associated with NASH...
18.
Arsov T, Mullen S, Rogers S, Phillips A, Lawrence K, Damiano J, et al.
Ann Neurol . 2013 Jan; 72(5):807-15. PMID: 23280796
Objective: We examined whether glucose transporter 1 (GLUT1) deficiency causes common idiopathic generalized epilepsies (IGEs). Methods: The IGEs are common, heritable epilepsies that usually follow complex inheritance; currently little is...
19.
Arsov T, Mullen S, Damiano J, Lawrence K, Huh L, Nolan M, et al.
Epilepsia . 2012 Oct; 53(12):e204-7. PMID: 23106342
Glucose transporter 1 (GLUT1) deficiency caused by mutations of SLC2A1 is an increasingly recognized cause of genetic generalized epilepsy. We previously reported that >10% (4 of 34) of a cohort...
20.
Crompton D, Sadleir L, Bromhead C, Bahlo M, Bellows S, Arsov T, et al.
Arch Neurol . 2012 Apr; 69(4):474-81. PMID: 22491192
Background: Familial adult myoclonic epilepsy (FAME) is an autosomal dominant syndrome characterized by a core triad of cortical tremor, multifocal myoclonus, and generalized tonic-clonic seizures. Objectives: To expand the phenotypic...