Search Results - "Stephenson, B. J"

Paroxysmal extreme pain disorder (previously familial rectal pain syndrome) by FERTLEMAN, C. R, FERRIE, C. D, POLLITZER, M, ROSSITER, M, ROULET-PEREZ, E, SCHUBERT, R, SMITH, V. V, TESTARD, H, WONG, V, STEPHENSON, J. B. P, AICARDI, J, BEDNAREK, N. A. F, EEG-OLOFSSON, O, ELMSLIE, F. V, GRIESEMER, D. A, GOUTIERES, F, KIRKPATRICK, M, MALMROS, I. N. O

“…To describe the clinical phenotype of paroxysmal extreme pain disorder (previously called familial rectal pain syndrome), an autosomal dominant condition…”
Get full text

Transhemispheric Cortical Plasticity Following Contralateral C7 Nerve Transfer: A Rat Functional Magnetic Resonance Imaging Survival Study by Stephenson, J.B., MD, Li, Rupeng, MD, PhD, Yan, Ji-Geng, MD, PhD, Hyde, James, PhD, Matloub, Hani, MD

“…Purpose To perform contralateral C7 nerve transfer in a controlled, survival rat functional magnetic resonance imaging model, so as to understand the extent of…”
Get full text

Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability by Eunson, L. H., Rea, R., Zuberi, S. M., Youroukos, S., Panayiotopoulos, C. P., Liguori, R., Avoni, P., McWilliam, R. C., Stephenson, J. B. P., Hanna, M. G., Kullmann, D. M., Spauschus, A.

“…Episodic ataxia type 1 (EA1) is an autosomal dominant central nervous system potassium channelopathy characterized by brief attacks of cerebellar ataxia and…”
Get full text

Anoxic-epileptic seizures: observational study of epileptic seizures induced by syncopes by Horrocks, I A, Nechay, A, Stephenson, J B P, Zuberi, S M

“…Aims: To describe a large series of children with anoxic-epileptic seizures (AES)—that is, epileptic seizures induced by syncopes. Methods: Retrospective…”
Get full text

Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) by Briggs, T.A., Abdel-Salam, G.M.H., Balicki, M., Baxter, P., Bertini, E., Bishop, N., Browne, B.H., Chitayat, D., Chong, W.K., Eid, M.M., Halliday, W., Hughes, I., Klusmann-Koy, A., Kurian, M., Nischal, K.K., Rice, G.I., Stephenson, J.B.P., Surtees, R., Talbot, J.F., Tehrani, N.N., Tolmie, J.L., Toomes, C., van der Knaap, M.S., Crow, Y.J.

“…Extensive intracranial calcifications and leukoencephalopathy are seen in both Coats plus and leukoencephalopathy with calcifications and cysts (LCC; Labrune…”
Get full text

Distraction rate and latency: factors in the outcome of paediatric maxillary distraction by Higuera, Stephen, Cole, Patrick, Stephenson, J.B, Hollier, Larry

“…Summary Background/purpose Over 50 years ago, current tenets of distraction osteogenesis were developed through work on the lower extremity; however, the…”
Get full text

Structure of the Main Central Thrust zone and extrusion of the High Himalayan deep crustal wedge, Kishtwar-Zanskar Himalaya by Stephenson, B. J, Searle, Michael P, Waters, D. J, Rex, D. C

“…The Main Central Thrust is a crustal-scale ductile shear zone between 1.5 and 3 km wide which places the Oligocene-Miocene metamorphic rocks of the High…”
Get full text

A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy by Zuberi, S. M., Eunson, L. H., Spauschus, A., De Silva, R., Tolmie, J., Wood, N. W., McWilliam, R. C., Stephenson, J. P. B., Kullmann, D. M., Hanna, M. G.

“…Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterized by brief episodes of ataxia associated with continuous interattack myokymia…”
Get full text

Cardiac pacing for severe childhood neurally mediated syncope with reflex anoxic seizures by McLeod, K A, Wilson, N, Hewitt, J, Norrie, J, Stephenson, J B P

“…OBJECTIVE To determine whether permanent cardiac pacing could prevent syncope and seizures in children with frequent severe neurally mediated syncope, and if…”
Get full text

Aicardi-Goutières Syndrome Displays Genetic Heterogeneity with One Locus ( AGS1) on Chromosome 3p21 by Crow, Y.J., Jackson, A.P., Roberts, E., van Beusekom, E., Barth, P., Corry, P., Ferrie, C.D., Hamel, B.C.J., Jayatunga, R., Karbani, G., Kálmánchey, R., Kelemen, A., King, M., Kumar, R., Livingstone, J., Massey, R., McWilliam, R., Meager, A., Rittey, C., Stephenson, J.B.P., Tolmie, J.L., Verrips, A., Voit, T., van Bokhoven, H., Brunner, H.G., Woods, C.G.

“…We have studied 23 children from 13 families with a clinical diagnosis of Aicardi-Goutières syndrome. Affected individuals had developed an early-onset…”
Get full text

The Aicardi-Goutières syndrome (familial, early onset encephalopathy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis) by Tolmie, J L, Shillito, P, Hughes-Benzie, R, Stephenson, J B

“…Aicardi-Goutières syndrome (Mendelian inheritance in man Catalog No *225750) is an autosomal recessive encephalopathy which causes developmental arrest,…”
Get full text

Cerebral palsy after maternal trauma in pregnancy by Hayes, B, Ryan, S, Stephenson, J B P, King, M D

“…Ten children (six males, four females) with spastic (n=9) and mixed spastic‐dyskinetic (n=1) cerebral palsy were born at term to mothers who earlier in the…”
Get full text

Comparison of the relative levels of the 3243 (A-->G) mtDNA mutation in heteroplasmic adult and fetal tissues by Matthews, P M, Hopkin, J, Brown, R M, Stephenson, J B, Hilton-Jones, D, Brown, G K

“…In this report, levels of the 3243 A to G mtDNA mutation associated with the mitochondrial encephalopathy, lactic acidosis, and stroke-like episodes (MELAS)…”
Get full text

Genetic aspects of tuberous sclerosis in the west of Scotland by Sampson, J R, Scahill, S J, Stephenson, J B, Mann, L, Connor, J M

“…Complete ascertainment of tuberous sclerosis was attempted in the west of Scotland (population 2,763,000). A total of 101 patients was identified, giving an…”
Get full text

Cree encephalitis is allelic with Aicardi-Goutiéres syndrome: implications for the pathogenesis of disorders of interferon alpha metabolism by Crow, Y J, Black, D N, Ali, M, Bond, J, Jackson, A P, Lefson, M, Michaud, J, Roberts, E, Stephenson, J B P, Woods, C G, Lebon, P

“…Aicardi-Goutiéres syndrome (AGS) is an early onset, progressive encephalopathy characterised by calcification of the basal ganglia, white matter abnormalities,…”
Get full text

A UK hospice’s position on assisted dying by Stephenson, JBG

Get full text

Cortical plasticity induced by different degrees of peripheral nerve injuries: a rat functional magnetic resonance imaging study under 9.4 Tesla by Li, Rupeng, Hettinger, Patrick C, Machol, Jacques A, Liu, Xiping, Stephenson, J B, Pawela, Christopher P, Yan, Ji-Geng, Matloub, Hani S, Hyde, James S

“…Major peripheral nerve injuries not only result in local deficits but may also cause distal atrophy of target muscles or permanent loss of sensation. Likewise,…”
Get full text

Gratification disorder (“infantile masturbation”): a review by Nechay, A, Ross, L M, Stephenson, J B P, O’Regan, M

“…Background: Little has been published on gratification disorder (“infantile masturbation”) in early childhood. Aims: To expand on the profile of patients…”
Get full text

Seizures and intellectual disability associated with tuberous sclerosis complex in the west of Scotland by Shepherd, C W, Stephenson, J B

“…Of 104 individuals with tuberous sclerosis complex ascertained from the total population of the west of Scotland, 52 were born before and 52 after 1st July…”
Get more information

Sedimentological responses to basin initiation in the Devonian of East Greenland by MARSHALL, J. E. A., STEPHENSON, B. J.

“…ABSTRACT The Devonian of East Greenland comprises a thick sequence of continental clastic sediments infilling an extensional basin. West of the main basin…”
Get full text