Zuberi SM - Search Results

1

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy.

Zuberi SM, Eunson LH, Spauschus A, De Silva R, Tolmie J, Wood NW, McWilliam RC, Stephenson JB, Kullmann DM, Hanna MG. Zuberi SM, et al. Brain. 1999 May;122 ( Pt 5):817-25. doi: 10.1093/brain/122.5.817. Brain. 1999. PMID: 10355668

2

"Cataplexy" and muscle ultrasound abnormalities in Coffin-Lowry syndrome.

Crow YJ, Zuberi SM, McWilliam R, Tolmie JL, Hollman A, Pohl K, Stephenson JB. Crow YJ, et al. Among authors: zuberi sm. J Med Genet. 1998 Feb;35(2):94-8. doi: 10.1136/jmg.35.2.94. J Med Genet. 1998. PMID: 9507386 Free PMC article.

3

Hyperammonaemic encephalopathy after a subureteric injection for vesicoureteric reflux.

Zuberi SM, Stephenson JB, Azmy AF, Robinson PH, McWilliam RC. Zuberi SM, et al. Arch Dis Child. 1998 Oct;79(4):363-4. doi: 10.1136/adc.79.4.363. Arch Dis Child. 1998. PMID: 9875052 Free PMC article.

4

Muscle ultrasound in the assessment of suspected neuromuscular disease in childhood.

Zuberi SM, Matta N, Nawaz S, Stephenson JB, McWilliam RC, Hollman A. Zuberi SM, et al. Neuromuscul Disord. 1999 Jun;9(4):203-7. doi: 10.1016/s0960-8966(99)00002-4. Neuromuscul Disord. 1999. PMID: 10399745 Clinical Trial.

5

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability.

Eunson LH, Rea R, Zuberi SM, Youroukos S, Panayiotopoulos CP, Liguori R, Avoni P, McWilliam RC, Stephenson JB, Hanna MG, Kullmann DM, Spauschus A. Eunson LH, et al. Among authors: zuberi sm. Ann Neurol. 2000 Oct;48(4):647-56. Ann Neurol. 2000. PMID: 11026449

6

Ion channels and neurology.

Zuberi SM, Hanna MG. Zuberi SM, et al. Arch Dis Child. 2001 Mar;84(3):277-80. doi: 10.1136/adc.84.3.277. Arch Dis Child. 2001. PMID: 11207185 Free PMC article. Review. No abstract available.

7

Human epilepsy associated with dysfunction of the brain P/Q-type calcium channel.

Jouvenceau A, Eunson LH, Spauschus A, Ramesh V, Zuberi SM, Kullmann DM, Hanna MG. Jouvenceau A, et al. Among authors: zuberi sm. Lancet. 2001 Sep 8;358(9284):801-7. doi: 10.1016/S0140-6736(01)05971-2. Lancet. 2001. PMID: 11564488

8

Phenotypic comparison of two Scottish families with mutations in different genes causing autosomal dominant nocturnal frontal lobe epilepsy.

McLellan A, Phillips HA, Rittey C, Kirkpatrick M, Mulley JC, Goudie D, Stephenson JB, Tolmie J, Scheffer IE, Berkovic SF, Zuberi SM. McLellan A, et al. Among authors: zuberi sm. Epilepsia. 2003 Apr;44(4):613-7. doi: 10.1046/j.1528-1157.2003.20102.x. Epilepsia. 2003. PMID: 12681012 Free article.

9

Coats' plus: a progressive familial syndrome of bilateral Coats' disease, characteristic cerebral calcification, leukoencephalopathy, slow pre- and post-natal linear growth and defects of bone marrow and integument.

Crow YJ, McMenamin J, Haenggeli CA, Hadley DM, Tirupathi S, Treacy EP, Zuberi SM, Browne BH, Tolmie JL, Stephenson JB. Crow YJ, et al. Among authors: zuberi sm. Neuropediatrics. 2004 Feb;35(1):10-9. doi: 10.1055/s-2003-43552. Neuropediatrics. 2004. PMID: 15002047

10

Anoxic-epileptic seizures: home video recordings of epileptic seizures induced by syncopes.

Stephenson J, Breningstall G, Steer C, Kirkpatrick M, Horrocks I, Nechay A, Zuberi S. Stephenson J, et al. Epileptic Disord. 2004 Mar;6(1):15-9. Epileptic Disord. 2004. PMID: 15075063 Free article.

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