Zobrazeno 1 - 10 of 22 pro vyhledávání: '"J B, Stephenson"'
1
Reliability of dipole-dipole electrical resistivity tomography for defining depth to bedrock in covered karst terranes
Autor: Barry F. Beck, J. B. Stephenson, Wanfang Zhou
Publikováno v: Environmental Geology. 39:760-766
Sinkhole collapse is one of the main limitations on the development of karst areas, especially where bedrock is covered by unconsolidated material. Studies of sinkhole formation have shown that sinkholes are likely to develop in cutter (enlarged join
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::061037464308e9f46a856bac16fb7689
https://doi.org/10.1007/s002540050491
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2
A novel mutation in the human voltage-gated potassium channel gene (Kv1.1) associates with episodic ataxia type 1 and sometimes with partial epilepsy
Autor: S M, Zuberi, L H, Eunson, A, Spauschus, R, De Silva, J, Tolmie, N W, Wood, R C, McWilliam, J B, Stephenson, J P, Stephenson, D M, Kullmann, M G, Hanna
Publikováno v: Brain. 122:817-825
Episodic ataxia type 1 (EA1) is a rare autosomal dominant disorder characterized by brief episodes of ataxia associated with continuous interattack myokymia. Point mutations in the human voltage-gated potassium channel (Kv1.1) gene on chromosome 12p1
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8299e780b62592a9c1f9fbe9d280eb61
https://doi.org/10.1093/brain/122.5.817
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3
Anoxic seizures: self-terminating syncopes
Autor: J B, Stephenson
Publikováno v: Epileptic disorders : international epilepsy journal with videotape. 3(1)
This review focuses on anoxic seizures induced by self terminating syncopes in the young. Anoxic seizures are nonepileptic events consequent upon abrupt interruption of the energy supply to metabolically active cerebral neurones. Anoxic seizures are
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::5a7a61791475d6e26f4e3ecbbe2ce419
https://pubmed.ncbi.nlm.nih.gov/11313215
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4
Clinical, genetic, and expression studies of mutations in the potassium channel gene KCNA1 reveal new phenotypic variability
Autor: L H, Eunson, R, Rea, S M, Zuberi, S, Youroukos, C P, Panayiotopoulos, R, Liguori, P, Avoni, R C, McWilliam, J B, Stephenson, M G, Hanna, D M, Kullmann, A, Spauschus
Publikováno v: Annals of neurology. 48(4)
Episodic ataxia type 1 (EA1) is an autosomal dominant central nervous system potassium channelopathy characterized by brief attacks of cerebellar ataxia and continuous interictal myokymia. Point mutations in the voltage-gated potassium channel gene K
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::52ba281529e86c539561f933ef2b83d3
https://pubmed.ncbi.nlm.nih.gov/11026449
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5
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits
Autor: H M, Mitchison, S L, Hofmann, C H, Becerra, P B, Munroe, B D, Lake, Y J, Crow, J B, Stephenson, R E, Williams, I L, Hofman, P E, Taschner, J J, Martin, M, Philippart, E, Andermann, F, Andermann, S E, Mole, R M, Gardiner, A M, O'Rawe
Publikováno v: Human molecular genetics. 7(2)
A subtype of neuronal ceroid lipofuscinosis (NCL) is well recognized which has a clinical course consistent with juvenile NCL (JNCL) but the ultrastructural characteristics of infantile NCL (INCL): granular osmiophilic deposits (GROD). Evidence suppo
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::94f4f4babdf890d2f2c2c00fd22b6fff
https://pubmed.ncbi.nlm.nih.gov/9425237
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6
Recycling and metal recovery technology for stainless steel pickling liquors
Autor: R. S. Kaplan, J. B. Stephenson, J. C. Hogan
Publikováno v: Environmental Progress. 3:50-53
Procede par distillation-cristallisation et par extraction a l'aide d'un solvant pour la recuperation et regeneration des acides nitrique et fluorhydrique des eaux usees d'usine siderurgique
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::0232405702cfc523e88fdca36c38dc79
https://doi.org/10.1002/ep.670030110
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7
Duchenne muscular dystrophy due to familial Xp21 deletion detectable by DNA analysis and flow cytometry
Autor: J Colgan, D. A. Aitken, Malcolm A. Ferguson-Smith, D E Wilcox, J B Stephenson, E. Boyd, A. Cooke, L Sinclair, L. Glasgow
Publikováno v: Human Genetics. 73:175-180
We report two male cousins with Duchenne muscular dystrophy (DMD) in whom cytogenetic studies have shown a small interstitial deletion at Xp21. The lesion is readily detectable in patients and carriers by flow cytometry which indicates that approxima
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0bf5bdbbb70f234c9cef3e307171f218
https://doi.org/10.1007/bf00291610
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9
Depigmented hair. The earliest sign of tuberous sclerosis
Autor: R C McWilliam, J B Stephenson
Publikováno v: Archives of Disease in Childhood. 53:961-963
We have studied 4 children with tuberous sclerosis with one or more patches of depigmented scalp hair and in each case these were noticed by the parents at birth. In one patient the finding of a tuft of white hair preceded the appearance of white mac
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::110703b853d6b381f24f1fa28619437f
https://doi.org/10.1136/adc.53.12.961
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