Search Results - "Darin, N."

Product Unbundling in the Travel Industry: The Economics of Airline Bag Fees by Brueckner, Jan K., Lee, Darin N., Picard, Pierre M., Singer, Ethan

“…This paper provides theory and evidence on airline bag fees, offering insights into a real‐world case of product unbundling. The theory predicts that an…”
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Drug-induced hyperthermia with rhabdomyolysis in CLN3 disease by Savvidou, A., Jennions, E., Wikström, S., Olsson-Engman, M., Sofou, K., Darin, N.

“…CLN3 disease (MIM# 204200), the most prevalent of the neuronal ceroid lipofuscinoses (NCL), is an autosomal recessive disorder with juvenile onset…”
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A novel mutation in EPG5 cause Vici syndrome with vacuolar myopathy by Hedberg-Oldfors, C, Darin, N, Oldfors, A

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Benign mitochondrial myopathy with exercise intolerance in a large multigeneration family due to a homoplasmic m.3250T>C mutation in MTTL1 by Darin, N., Hedberg‐Oldfors, C., Kroksmark, A.‐K., Moslemi, A.‐R., Kollberg, G., Oldfors, A.

“…Background and purpose Most mitochondrial disorders with onset in early childhood are progressive and involve multiple organs. The m.3250T>C mutation in MTTL1…”
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The immunogenetics of narcolepsy associated with A(H1N1)pdm09 vaccination (Pandemrix) supports a potent gene–environment interaction by Bomfim, I L, Lamb, F, Fink, K, Szakács, A, Silveira, A, Franzén, L, Azhary, V, Maeurer, M, Feltelius, N, Darin, N, Hallböök, T, Arnheim-Dahlström, L, Kockum, I, Olsson, T

“…The influenza A(H1N1)pdm09 vaccination campaign from 2009 to 2010 was associated with a sudden increase in the incidence of narcolepsy in several countries…”
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Congenital mitochondrial encephalomyopathy with complex I deficiency due to mutations in sideroflexin 4 (SFXN4) by Tulinius, M, Kollberg, G, Darin, N, Oldfors, A, Asin-Cayuela, J

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Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden by Darin, N, Tulinius, M

“…A retrospective epidemiological study of neuromuscular disorders was carried out in children born between 1979 and 1994 in western Sweden. The purpose was to…”
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Cerebrospinal fluid neurofilament light protein as a diagnostic and prognostic biomarker in mitochondrial diseases with CNS involvement by Sofou, K, Shahim, P, Tulinius, M, Blennow, K, Zetterberg, H, Mattsson, N, Darin, N

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Ophthalmological findings in children and young adults with genetically verified mitochondrial disease by Grönlund, M A, Honarvar, A K Seyedi, Andersson, S, Moslemi, A R, Oldfors, A, Holme, E, Tulinius, M, Darin, N

“…To describe ophthalmological phenotypes in patients with mitochondrial disease and known genotypes. A retrospective study was performed on 59 patients (29…”
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Metal−Olefin Bond Energies in M(CO)5(C2H4-n Cl n ) M = Cr, Mo, W; n = 0−4: Electron-Withdrawing Olefins Do Not Increase the Bond Strength by Schlappi, Darin N, Cedeño, David L

“…Metal−olefin bond dissociation enthalpies have been calculated for the series of complexes M(CO)5(C2H4-n Cl n ), M = Cr, Mo, W; n = 0−4 using density…”
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New skeletal myopathy and cardiomyopathy associated with a missense mutation in MYH7 by DARIN, N, TAJSHARGHI, H, OSTMAN-SMITH, I, GILLJAM, T, OLDFORS, A

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New morphologic and genetic findings in cap disease associated with β-tropomyosin (TPM2) mutations by OHLSSON, M, QUIJANO-ROY, S, DARIN, N, BROCHIER, G, LACENE, E, AVILA-SMIRNOW, D, FARDEAU, M, OLDFORS, A, TAJSHARGHI, H

“…Mutations in the beta-tropomyosin gene (TPM2) are a rare cause of congenital myopathies with features of nemaline myopathy and cap disease and may also cause…”
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Inflammation and response to steroid treatment in limb-girdle muscular dystrophy 2I by Darin, N, Kroksmark, A.-K, Åhlander, A.-C, Moslemi, A.-R, Oldfors, A, Tulinius, M

“…Abstract Limb-girdle muscular dystrophy (LGMD) type 2I, caused by mutations in the fukutin-related protein gene ( FKRP ), is one of the most common forms of…”
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S.P.31 What was the age and cause of death in patients with Duchenne muscular dystrophy in Sweden during 2000–2010? by Stromberg, A, Darin, N, Kroksmark, A.K, Tulinius, M

“…Abstract The aim of this project was to study the age and cause of death in patients with Duchenne muscular dystrophy (DMD) in Sweden. DMD is the most common…”
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P5.76 Muscular dystrophies and congenital myopathies in childhood by Thorarinsdottir, B.K, Tulinius, M, Darin, N

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ALLIANCES, CODESHARING, ANTITRUST IMMUNITY, AND INTERNATIONAL AIRFARES: DO PREVIOUS PATTERNS PERSIST? by Brueckner, J. K., Lee, D. N., Singer, E. S.

“…This paper revisits the effect of airline cooperation on international airfares, using a panel data set from 1998 to 2009. The findings mostly confirm previous…”
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OP5 – 2696: Pyruvate dehydrogenase complex deficiency: Phenotype–genotype, phenotype–neuroimaging associations and treatment outcomes by Sofou, K, Kollberg, G, Mitsis, M, Michael, E, Viggedal, G, Holme, E, Hallböök, T, Tulinius, M, Darin, N

“…Objectives To assess the phenotypic and genotypic spectrum of patients with pyruvate dehydrogenase complex (PDHc) deficiency, identify phenotype–genotype…”
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Coenzyme Q(10) and idebenone in the therapy of respiratory chain diseases: rationale and comparative benefits by Geromel, Vanna, Darin, Niklas, Chrétien, Dominique, Bénit, Paule, DeLonlay, Pascale, Rötig, Agnès, Munnich, Arnold, Rustin, Pierre

“…While there have been major advances in both the identification of the molecular basis and our understanding of mitochondrial pathology, the clinical…”
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OP6 – 2631: Decreased free-thiamine in cerebro spinal fluid and fibroblasts is a sensitive marker of thiamine transporter 2 deficiency in Leigh syndrome patients by Escobar, J.D. Ortigoza, Molero-Luis, M, Arias, A, Darin, N, Casado, M, Serrano, M, Tondo, M, Mayr, J.A, Ribes, A, Artuch, R, Pérez-Dueñas, B

“…Objectives Thiamine transporter-2 (hTHTR2) deficiency due to SLC19A3 mutations is a potentially reversible cause of Leigh syndrome for which no biochemical…”
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D.I.2 Myosin myopathies and distal arthrogryposis syndromes by Oldfors, A, Tajsharghi, H, Kimber, E, Darin, N, Lindberg, C

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