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Your search keyword '"Aharoni S"' showing total 180 results
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180 results on '"Aharoni S"'

2. P.53 Muscle microRNAs in the cerebrospinal fluid predict clinical response to nusinersen therapy in type II and type III spinal muscular atrophy patients

Author

Magen, I., primary, Aharoni, S., additional, Yacovzada, N., additional, Latzer, I. Tokatly, additional, Alves, C., additional, Sagi, L., additional, Fattal-Valevski, A., additional, Swoboda, K., additional, Katz, J., additional, Bruckheimer, E., additional, Nevo, Y., additional, and Hornstein, E., additional

Published
2022
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9. 84P A rare homozygous CAPN3 variant with distinct clinical features in unrelated families of Iraqi Jewish descent.

Author

Aharoni, S., Batzir, N. Assia, Orenstein, N., Yaron, Y., Kuzminsky, A., Nevo, Y., Konen, O., Bazak, L., Lidzbarsky, G., and Basel-Salmon, L.

Subjects
*LIMB-girdle muscular dystrophy, *JEWISH families, *CREATINE kinase, *SHOULDER girdle, *PELVIC bones
Abstract

CAPN3 encodes calpain-3, a calcium-activated skeletal muscle-specific protease. Pathogenic variants in CAPN3 are associated with autosomal recessive and autosomal dominant limb-girdle muscular dystrophy (LGMDR1/LGMD2A and LGMDD4, respectively). Patients present with weakness of the pelvic and shoulder girdle and elevated creatine kinase levels. Here, we report in detail on three children and one adult from four unrelated Israeli families of Iraqi Jewish descent with features of LGMDR1, who were found to harbor the same homozygous missense variant in CAPN3 , p.Gln123Lys. All subjects manifested lower limb weakness with onset in the first or second decades of life; the three children presented with toe walking and significantly elevated creatine kinase levels (6,000-21,000U/L). The variant affects an evolutionarily conserved amino acid in a conserved domain of the protein common to the calpain super family. We conclude that the p.Gln123Lys variant in CAPN3 is associated with autosomal recessive limb-girdle muscular dystrophy with a recognizable clinical phenotype. Furthermore, this variant likely represents a founder mutation in individuals of Iraqi Jewish ancestry. These findings can help guide workup for individuals presenting with suggestive features and should be considered in relevant population screening. [ABSTRACT FROM AUTHOR]

Published
2024
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18. Homozygous mutations in VAMP1 cause a presynaptic congenital myasthenic syndrome

Author

Salpietro, V., Lin, W., Vedove, A. D., Storbeck, M., Liu, Y., Efthymiou, S., Manole, A., Wiethoff, S., Ye, Q., Saggar, A., Mcelreavey, K., Krishnakumar, S. S., Pitt, M., Bello, O. D., Rothman, J. E., Basel-Vanagaite, L., Hubshman, M. W., Aharoni, S., Manzur, A. Y., Wirth, B., and Houlden, H.

Published
2017

21. The Ketogenic Diet 2011: How It Works

Author

Politi, Keren, Shemer-Meiri, Lilach, Shuper, Avinoam, and Aharoni, S.

Subjects
Article Subject
Abstract

Although the ketogenic diet (KD) has been widely accepted as a legitimate and successful therapy for epilepsy and other neurological disorders, its mechanism of action remains an enigma. The use of the KD causes major metabolic changes. The most significant of them seems to be the situation of chronic ketosis, but there are others as well, for instance, high level of polyunsaturated fatty acids (PUFAs). These “primary” influences lead to “secondary”, in part adaptive, effects, for instance changes in mitochondrial density and gene expression. Clinically, the influences of the diet are considered as anticonvulsive and neuroprotective, although neuroprotection can also lead to prevention of seizures. Potential clinical implications of these mechanisms are discussed.

Published
2011
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26. P.6.9 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency

Author

Nevo, Y., primary, Ben-Zeev, B., additional, Tabib, A., additional, Straussberg, R., additional, Anikster, Y., additional, Shorer, Z., additional, Fattal-Valevski, A., additional, Ta-Shma, A., additional, Aharoni, S., additional, Rabie, M., additional, Zenvrit, S., additional, Goldshmidt, H., additional, Felig, Y., additional, Shaag, A., additional, Mevorach, D., additional, and Elpeleg, O., additional

Published
2013
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28. O23 – 1732 Childhood relapsing immune-mediated polyneuropathy and hemolysis is associated with CD59 deficiency

Author

Nevo, Y, primary, Ben Zeev, B, additional, Tabib, A, additional, Straussberg, R, additional, Anikster, Y, additional, Shorer, Z, additional, Fattal-Valeski, A, additional, Ta Shma, A, additional, Aharoni, S, additional, Rabie, M, additional, Zenvirt, S, additional, Goldshmidt, H, additional, Fellig, Y, additional, Shaag, A, additional, Mevorach, D, additional, and Elpeleg, O, additional

Published
2013
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41. The Ketogenic Diet 2011:How It Works.

Author

Politi, Keren, Shemer-Meiri, Lilach, Shuper, Avinoam, and Aharoni, S.

Abstract

Although the ketogenic diet (KD) has been widely accepted as a legitimate and successful therapy for epilepsy and other neurological disorders, its mechanism of action remains an enigma. The use of the KD causes major metabolic changes. The most significant of them seems to be the situation of chronic ketosis, but there are others as well, for instance, high level of polyunsaturated fatty acids (PUFAs). These "primary" influences lead to "secondary", in part adaptive, effects, for instance changes in mitochondrial density and gene expression. Clinically, the influences of the diet are considered as anticonvulsive and neuroprotective, although neuroprotection can also lead to prevention of seizures. Potential clinical implications of these mechanisms are discussed. [ABSTRACT FROM AUTHOR]

Published
2011
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42. Glass transition in polymer molecules and networks.

Author

Kremer, F., Lagaly, G., Kilian, H. -G., Pietralla, M., Edwards, S. F., and Aharoni, S. M.

Abstract

The first part of the paper describes how rigid rods, i.e., liquid crystal polymers can be used as a physical system whose glass transition can be investigated with confidence. For this system the position of the transition and the Volger-Fulcher Law by which it is approached can be derived. The second part discusses the physics of such molecules giving examples of their chemical structure and the form of networks and fractals formed from them. [ABSTRACT FROM AUTHOR]

Published
1994
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