Letteratura scientifica selezionata sul tema "SMALED"
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Articoli di riviste sul tema "SMALED"
Sharkova, I. V., P. A. Shatalov e E. L. Dadali. "VARIETY OF CLINICAL MANIFESTATIONS IN MUTATIONS IN THE DYNC1H1 GENE". Russian neurological Journal, n. 3 (3 settembre 2019): 31–36. http://dx.doi.org/10.30629/2658-7947-2019-24-3-31-36.
Testo completoRibeiro-Mourão, Francisco, Ana Vilan, Sara Passos-Silva, Fernando Silveira, Miguel Leão e Mafalda Sampaio. "Intrafamilial Variability of the R694C Variant in BICD2 Presenting with Lethal Severe Arthrogryposis". Journal of Neonatology 36, n. 1 (11 gennaio 2022): 63–68. http://dx.doi.org/10.1177/09732179211068815.
Testo completoAziz, Iqra, Mark Davis e Christina Liang. "Late adult-onset spinal muscular atrophy with lower extremity predominance (SMALED)". BMJ Case Reports 15, n. 3 (marzo 2022): e248297. http://dx.doi.org/10.1136/bcr-2021-248297.
Testo completoTrimouille, Aurélien, Émilie Obre, Guillaume Banneau, Alexandra Durr, Giovanni Stevanin, Fabienne Clot, Perrine Pennamen et al. "An in-frame deletion in BICD2 associated with a non-progressive form of SMALED". Clinical Neurology and Neurosurgery 166 (marzo 2018): 1–3. http://dx.doi.org/10.1016/j.clineuro.2018.01.013.
Testo completoHemerková, Pavlína, Hana Matulová, Pavel Kunc, Lenka Pospíšlová e Jiří Jandura. "Spinal muscular atrophy affecting the lower limbs, dominantly inherited (SMALED), an example of a non-5q form of the disease". Neurologie pro praxi 24, n. 1 (3 marzo 2023): 65–69. http://dx.doi.org/10.36290/neu.2022.051.
Testo completoWIELER, SUSANA. "Smale spaces via inverse limits". Ergodic Theory and Dynamical Systems 34, n. 6 (28 giugno 2013): 2066–92. http://dx.doi.org/10.1017/etds.2013.19.
Testo completoBarinova, M. K., E. Y. Gogulina e O. V. Pochinka. "Omega-classification of Surface Diffeomorphisms Realizing Smale Diagrams". Nelineinaya Dinamika 17, n. 3 (2021): 321–34. http://dx.doi.org/10.20537/nd210306.
Testo completoBecker, Lena-Luise, Hormos Salimi Dafsari, Jens Schallner, Dalia Abdin, Michael Seifert, Florence Petit, Thomas Smol et al. "The clinical-phenotype continuum in DYNC1H1-related disorders—genomic profiling and proposal for a novel classification". Journal of Human Genetics 65, n. 11 (12 agosto 2020): 1003–17. http://dx.doi.org/10.1038/s10038-020-0803-1.
Testo completoHoang, Ha Thi, Max A. Schlager, Andrew P. Carter e Simon L. Bullock. "DYNC1H1 mutations associated with neurological diseases compromise processivity of dynein–dynactin–cargo adaptor complexes". Proceedings of the National Academy of Sciences 114, n. 9 (14 febbraio 2017): E1597—E1606. http://dx.doi.org/10.1073/pnas.1620141114.
Testo completoAmini, Massoud, Ian F. Putnam e Sarah Saeidi Gholikandi. "Homology for one-dimensional solenoids". MATHEMATICA SCANDINAVICA 121, n. 2 (22 ottobre 2017): 219. http://dx.doi.org/10.7146/math.scand.a-26265.
Testo completoTesi sul tema "SMALED"
Calon, Maëliss. "Étude des bases moléculaires et cellulaires de la vulnérabilité des neurones moteurs dans l'amyotrophie spinale distale des membres inférieurs". Electronic Thesis or Diss., Sorbonne université, 2024. https://accesdistant.sorbonne-universite.fr/login?url=https://theses-intra.sorbonne-universite.fr/2024SORUS282.pdf.
Testo completoIntracellular transport alterations can cause neurodegeneration or hinder the development of neural circuits. Dominant mutations in DYNC1H1 (dynein heavy chain) and its partner BICD2, two essential components of intracellular transport machinery, underlie a neurodevelopmental motor neuron disease called spinal muscular atrophy with lower extremity predominance (SMALED). In this disease, motor neurons innervating the limbs are selectively affected, indicating a gradual dependence on intracellular transport among neuronal types and even motor neuron subtypes. My thesis work aimed to study the mechanisms responsible for motor neuron impairment in this disease. By analyzing the first mouse models carrying a SMALED-inducing point mutation in BICD2, I observed that this type of mutation can induce a loss of the BICD2 protein, unlike what is observed in patients. This mutation results in the in-utero death of homozygous embryos, but heterozygous animals, which correspond to the genetic configuration in patients, do not present a phenotype. These results suggest that mouse models of SMALED may, at least in some cases, imperfectly mimic the disease. I therefore developed a complementary human model based on the differentiation into motor neurons of human induced pluripotent stem cells (hiPSCs) derived from SMALED patients. I showed that SMALED mutations do not impact the specification and survival of motor neurons. However, the axonal transport of vesicles involved in neurotrophic factor (NTF) signaling seems affected, as well as the response to GDNF, an NTF essential for muscle innervation and the survival of certain motor neuron groups. My results suggest that SMALED could be due to defects in axonal transport that disrupt the integration of NTF signaling, which is essential for the development and maintenance of locomotor circuits, particularly those controlling the limbs. The development of new conditions for the maturation of human motor neurons during my thesis will provide a better understanding of the links between retrograde signaling by NTF, the development of motor circuits and the deregulation of these pathways in diseases beyond SMALED
Šenk, Miroslav. "Využití spektrální analýzy pro převod trojúhelníkových polygonálních 3D sítí na 3D spline plochy". Master's thesis, Vysoké učení technické v Brně. Fakulta informačních technologií, 2007. http://www.nusl.cz/ntk/nusl-412770.
Testo completoPotts, Joanne M. "Estimating abundance of rare, small mammals : a case study of the Key Largo woodrat (Neotoma floridana smalli)". Thesis, University of St Andrews, 2011. http://hdl.handle.net/10023/2068.
Testo completoHögele, Michael, e Ilya Pavlyukevich. "Metastability of Morse-Smale dynamical systems perturbed by heavy-tailed Lévy type noise". Universität Potsdam, 2014. http://opus.kobv.de/ubp/volltexte/2014/7063/.
Testo completoTognoloni, Cecilia. "Formation of polymer lipid nanodiscs for membrane protein studies". Thesis, University of Bath, 2017. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.760950.
Testo completoSmall, LaCee M. "Effects of data-driven instruction and goal setting on science learning and test scores". Montana State University, 2012. http://etd.lib.montana.edu/etd/2012/small/SmallL0812.pdf.
Testo completoHaynes, Elizabeth Lydia. "Smale Flows on Three Dimensional Manifolds". OpenSIUC, 2012. https://opensiuc.lib.siu.edu/dissertations/470.
Testo completoBetermin, Laurent. "Energies de réseaux et calcul variationnel". Thesis, Paris Est, 2015. http://www.theses.fr/2015PEST1006/document.
Testo completoIn this thesis, we study minimization problems for discrete energies and we search to understand why a periodic structure can be a minimizer for an interaction energy, that is called a crystallization problem. After showing that a given Bravais lattice of R^d submitted to some parametrized potential can be viewed as a local minimum, we prove that the triangular lattice is optimal, among Bravais lattices of R^2, for some energies per point, with or without a fixed density. Finally, we prove, from Sandier and Serfaty works about 2D Coulomb gases, Rakhmanov-Saff-Zhou conjecture, that is to say the existence of a term of order n in the asymptotic expansion of the optimal logarithmic energy for n points on the 2-sphere. Furthermore, we show the equivalence between Brauchart-Hardin-Saff conjecture about the value of this term of order n and Sandier-Serfaty conjecture about the optimality of triangular lattice for a coulombian renormalized energy
Coelho, José Augusto [UNESP]. "Interpretação eletrostática e a conjectura se Smale". Universidade Estadual Paulista (UNESP), 2010. http://hdl.handle.net/11449/94276.
Testo completoConselho Nacional de Desenvolvimento Científico e Tecnológico (CNPq)
Nesta dissertação estudamos a conjectura de Smale junto com a maioria dos resultados sobre este assunto e sua interpretação eletrostática. Mostramos alguns testes numéricos sobre a citada conjectura, para podermos analisar sua interpretação eletrostática.
In this dissertation we study a conjecture of smale together with majority of results about this topic and its electrostatic interpretation. We show some numerical tests concerning the conjecture in order to analise its electrostatic interpretation.
Coelho, José Augusto. "Interpretação eletrostática e a conjectura se Smale /". São José do Rio Preto : [s.n.], 2010. http://hdl.handle.net/11449/94276.
Testo completoBanca: Ana Paula Peron
Banca: Cleonice Fátima Bracciali
Resumo: Nesta dissertação estudamos a conjectura de Smale junto com a maioria dos resultados sobre este assunto e sua interpretação eletrostática. Mostramos alguns testes numéricos sobre a citada conjectura, para podermos analisar sua interpretação eletrostática.
Abstract: In this dissertation we study a conjecture of smale together with majority of results about this topic and its electrostatic interpretation. We show some numerical tests concerning the conjecture in order to analise its electrostatic interpretation.
Mestre
Libri sul tema "SMALED"
Hager, Mandy. Smashed. Auckland, N.Z: Random House New Zealand, 2007.
Cerca il testo completo1937-, Williams Gwynne, e Chess Victoria, a cura di. Smalwod. Aberystwyth: Gwasg Cambria, 1991.
Cerca il testo completoShohet, Uri. Smalah. Yehud Monoson: Ofir bikurim, 2022.
Cerca il testo completoBatacan, F. H. Smaller and smaller circles: A novel. Diliman, Quezon City: University of the Philippines Press, 2002.
Cerca il testo completoLiepins, Laudis. Smalki Laudis. Riga: Liesma, 1990.
Cerca il testo completoBoyle, Martin. The smalls. Highfield: B&T, 1998.
Cerca il testo completoCouture, François. Denis Smalley. Paris: INA/GRM, 2010.
Cerca il testo completoBonatti, Christian. Difféomorphismes de smale des surfaces. Paris: Société mathématique de France, 1998.
Cerca il testo completoBonatti, C. Difféomorphismes de Smale des surfaces. Paris: Société mathématique de France, 1998.
Cerca il testo completoPutnam, Ian F. A homology theory for Smale spaces. Providence, Rhode Island: American Mathematical Society, 2014.
Cerca il testo completoCapitoli di libri sul tema "SMALED"
Guerraggio, Angelo. "Stephen Smale". In Mathematical Lives, 191–96. Berlin, Heidelberg: Springer Berlin Heidelberg, 2010. http://dx.doi.org/10.1007/978-3-642-13606-1_27.
Testo completoHowie, Crawford. "Small is beautiful: Schubert’s smaller sacred works". In The Unknown Schubert, 59–80. Routledge, 2017. http://dx.doi.org/10.4324/9781315085012-4.
Testo completo"Foreword". In Small States. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1997-1-en.
Testo completo"Major Economic Trends in Commonwealth Small States". In Small States, 1–14. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1997-2-en.
Testo completo"Commonwealth Small States and the International Trading System". In Small States, 15–32. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1997-3-en.
Testo completo"Manufacturing Competitiveness with Special Reference to Small States". In Small States, 33–51. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1997-4-en.
Testo completo"Basic Statistics". In Small States, 52–152. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1997-5-en.
Testo completo"Foreword". In Small States. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1998-1-en.
Testo completo"Recent Economic Trends in Commonwealth Small States". In Small States, 1–18. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1998-2-en.
Testo completo"An Overview of Vulnerability Issues". In Small States, 19–23. Commonwealth, 1998. http://dx.doi.org/10.14217/smalst-1998-3-en.
Testo completoAtti di convegni sul tema "SMALED"
Wang, Zhenwei, Haiying Zhang e Tingxian Gao. "Small Target Detection Based on Enhanced RFCN Driven By Smaller Data Set". In ICRCA 2019: 2019 The 4th International Conference on Robotics, Control and Automation. New York, NY, USA: ACM, 2019. http://dx.doi.org/10.1145/3351180.3351181.
Testo completoLoscombe, R. "The ISO 12215 Scantling Standard – Development and Implementation". In Small Craft Regulations. RINA, 2004. http://dx.doi.org/10.3940/rina.sc.2004.06.
Testo completoHanbidge, Philip J. "A Mission-Driven Approach To Vessel Design". In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.03.
Testo completoHentinen, Markku. "Workboat Design with Self-Organising Map Technique (SOM)". In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.02.
Testo completoFrancescutto, Alberto, Antonio Cardo e Giulio Russo Krauss. "Dynamic Stability and Effect of Water on Deck Small Fishing Vessels". In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.06.
Testo completoKuo, C., S. Houison Craufurd e M. McGowan. "Application of Formal Safety Management to Small Craft Safety". In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.11.
Testo completoDeakin, Barry. "The Stability of Beam Trawlers". In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.05.
Testo completoHolm, Gunnar. "Critical Safety Principles in Small Craft Design and Rule Development". In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.12.
Testo completoDahle, Emil Aall, Gisli Viggosson e Dag Myrhaug. "Safe Operation of Fishing Vessels Based Upon Continuous Measurements of Environmental Conditions and Vessel Stability". In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.07.
Testo completoBoccadamo, G., R. Pennarola, A. Scamardella e G. Simeon. "Working Conditions on Small Fishing Vessels: Accident Investigation, Seaworthiness and Design Aspects". In Small Craft Safety. RINA, 2001. http://dx.doi.org/10.3940/rina.sc.2001.09.
Testo completoRapporti di organizzazioni sul tema "SMALED"
Hangen, Eric, e Michael E. Hangen. CDFIs Can Make the SBA PPP Loan Program Work for Smaller, Minority-Owned, and Women-Owned, Small Businesses. University of New Hampshire Libraries, 2020. http://dx.doi.org/10.34051/p/2020.386.
Testo completoWiersch, AnnMarie, Scott Lieberman e Barbara J. Lipman. Click, Submit 2.0: An Update on Online Lender Applicants from the Small Business Credit Survey. Federal Reserve Bank of Cleveland, dicembre 2019. http://dx.doi.org/10.26509/frbc-cd-20191218.
Testo completoOlarreaga, Marcelo, e Andreas Lendle. Can Online Markets Make Trade More Inclusive? Inter-American Development Bank, marzo 2014. http://dx.doi.org/10.18235/0006985.
Testo completoAthey, Susan, Christian Catalini e Catherine Tucker. The Digital Privacy Paradox: Small Money, Small Costs, Small Talk. Cambridge, MA: National Bureau of Economic Research, giugno 2017. http://dx.doi.org/10.3386/w23488.
Testo completoKoopmann, Patrick, e Jieying Chen. Deductive Module Extraction for Expressive Description Logics (Extended Version). Technische Universität Dresden, 2020. http://dx.doi.org/10.25368/2022.262.
Testo completoWestley, Glenn D. Can Financial Market Policies Reduce Income Inequality? Inter-American Development Bank, ottobre 2001. http://dx.doi.org/10.18235/0008882.
Testo completoThorn, R. J. Conductors with small Fermi energies and small gap energies. Office of Scientific and Technical Information (OSTI), settembre 1993. http://dx.doi.org/10.2172/10184534.
Testo completoDouville, Travis, Mark Severy, Lorin Wall e Kendall Mongird. Small Hydropower Interconnections: Small Hydropower in the United States. Office of Scientific and Technical Information (OSTI), agosto 2022. http://dx.doi.org/10.2172/1882596.
Testo completoCooper, Rachel. Water in Sustainable Agriculture Standards. Institute of Development Studies (IDS), gennaio 2021. http://dx.doi.org/10.19088/k4d.2021.037.
Testo completoLacy, Susan Whitney, e Christopher Robert Saunders. The hardware of smaller clusters. Office of Scientific and Technical Information (OSTI), agosto 2018. http://dx.doi.org/10.2172/1465636.
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