Search Results - "Zuberi, S. M."

Prognostic, clinical and demographic features in SCN1A mutation-positive Dravet syndrome by BRUNKLAUS, A, ELLIS, R, REAVEY, E, FORBES, G. H, ZUBERI, S. M

“…Dravet syndrome is a severe infantile onset epileptic encephalopathy associated with mutations in the sodium channel alpha 1 subunit gene SCN1A. To date no…”
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Genotype―phenotype associations in SCN1A-related epilepsies by ZUBERI, S. M, BRUNKLAUS, A, BIRCH, R, REAVEY, E, DUNCAN, J, FORBES, G. H

“…Most mutations in SCN1A-related epilepsies are novel and when an infant presents with febrile seizures (FS) it is uncertain if they will have simple FS, FS+,…”
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Electrification of Steam and Thermal Oil Boilers in the Textile Industry: Techno-Economic Analysis for China, Japan, and Taiwan by Hasanbeigi, Ali, Zuberi, M. Jibran S.

“…Process heating is typically more than half of the total final energy demand in the textile industry, most of which is usually provided by fossil fuels. There…”
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Electrified Process Heating in Textile Wet-Processing Industry: A Techno-Economic Analysis for China, Japan, and Taiwan by Hasanbeigi, Ali, Zuberi, M. Jibran S.

“…The textile industry accounts for approximately 2% of global greenhouse gas emissions. There is a significant opportunity to decarbonize the textile industry…”
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A bottom-up analysis of energy efficiency improvement and CO2 emission reduction potentials for the swiss metals sector by Bhadbhade, Navdeep, Zuberi, M. Jibran S., Patel, Martin K.

“…The Swiss metals sector, comprised of manufacturing basic metals and fabricated metal products, is responsible for nearly 14% of total final energy (TFE)…”
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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…”
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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…”
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Deletions or duplications in KCNQ2 can cause benign familial neonatal seizures by Heron, S E, Cox, K, Grinton, B E, Zuberi, S M, Kivity, S, Afawi, Z, Straussberg, R, Berkovic, S F, Scheffer, I E, Mulley, J C

“…Background:Benign familial neonatal seizures are most often caused by mutations in the voltage-gated potassium channel subunit gene KCNQ2. More than 60…”
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Nongenetic factors influence severity of episodic ataxia type 1 in monozygotic twins by GRAVES, T. D, RAJAKULENDRAN, S, ZUBERI, S. M, MORRIS, H. R, SCHORGE, S, HANNA, M. G, KULLMANN, D. M

“…Episodic ataxia type 1 (EA1) is a monogenic channelopathy caused by mutations of the potassium channel gene KCNA1. Affected individuals carrying the same…”
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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…”
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Cost‐effectiveness analysis of energy efficiency measures in the Swiss chemical and pharmaceutical industry by Zuberi, M. Jibran S., Patel, Martin K.

“…Summary Energy efficiency improvement is an effective way of reducing energy demand and CO2 emissions. Although the overall final energy savings potential in…”
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Bottom-up assessment of industrial heat pump applications in U.S. Food manufacturing by Jibran S. Zuberi, M., Hasanbeigi, Ali, Morrow, William

“…[Display omitted] •A novel approach to study sector-level potential industrial heat pump applications.•The potential energy savings by electrifying process…”
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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 by Crow, Y J, McMenamin, J, Haenggeli, C A, Hadley, D M, Tirupathi, S, Treacy, E P, Zuberi, S M, Browne, B H, Tolmie, J L, Stephenson, J B P

“…In 1988 we reported two sisters with bilateral Coats' disease, sparse hair, dystrophic nails, and primeval splashes of intracranial calcification. We now…”
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Greenhouse effect reduction by recovering energy from waste landfills in Pakistan by Zuberi, M. Jibran S., Ali, Shazia F.

“…Landfills all around the world are one of the major sources that contribute towards global warming and climate change. Although landfilling should be…”
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Bottom-up analysis of energy efficiency improvement and CO2 emission reduction potentials in the Swiss cement industry by Zuberi, M. Jibran S., Patel, Martin K.

“…The cement industry is among the top three industrial energy consumers in Switzerland with a share of 9% of the total final energy demand by Swiss industry in…”
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P08 Epidemiology of epilepsy in early childhood and predictors of outcome: a national population-based prospective cohort study by Symonds, JD, Elliott, KS, Knight, JC, Jollands, A, Pilley, E, Shetty, J, Stephen, E, Zuberi, SM

“…ObjectivesTo calculate the incidence of early childhood–onset epilepsyTo report the yield from aetiological investigations in these patientsTo investigate for…”
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Excess heat recovery: An invisible energy resource for the Swiss industry sector by Zuberi, M. Jibran S., Bless, Frédéric, Chambers, Jonathan, Arpagaus, Cordin, Bertsch, Stefan S., Patel, Martin K.

“…•The mean exergy efficiency of the Swiss industry sector is estimated to be 27%.•The mean energy efficiency of the Swiss industry sector is estimated to be…”
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Heat integration of a multi-product batch process by means of direct and indirect heat recovery using thermal energy storage by Zuberi, M. Jibran S., Olsen, Don, Liem, Peter, Wellig, Beat, Patel, Martin K.

“…•A case study is presented on heat integration of a multi-product batch process.•The processes are optimized for direct & indirect heat recovery using heat…”
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G150 Aetiological investigations and treatment outcomes in a prospective population-based cohort of children with epilepsy <3 years by Symonds, JD, Elliott, KS, Knight, JC, Brunklaus, A, Joss, S, MacLeod, S, Pilz, DT, Zuberi, SM

“…ObjectivesTo report the yield from all aetiological investigations in a prospective population–based cohort of children presenting with new–onset epilepsy <3…”
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A detailed review on current status of energy efficiency improvement in the Swiss industry sector by Zuberi, M. Jibran S., Santoro, Marina, Eberle, Armin, Bhadbhade, Navdeep, Sulzer, Sabine, Wellig, Beat, Patel, Martin K.

“…While quantitative methods for tracking the evolution of energy efficiency (EE) in industry do exist, these cannot always be directly applied, mainly due to…”
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