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Статті в журналах з теми "SPG52"
Behne, Robert, Julian Teinert, Miriam Wimmer, Angelica D’Amore, Alexandra K. Davies, Joseph M. Scarrott, Kathrin Eberhardt, et al. "Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking." Human Molecular Genetics 29, no. 2 (January 9, 2020): 320–34. http://dx.doi.org/10.1093/hmg/ddz310.
Повний текст джерелаTessa, A., R. Battini, A. Rubegni, E. Storti, C. Marini, D. Galatolo, R. Pasquariello, and F. M. Santorelli. "Identification of mutations inAP4S1/SPG52 through next generation sequencing in three families." European Journal of Neurology 23, no. 10 (July 22, 2016): 1580–87. http://dx.doi.org/10.1111/ene.13085.
Повний текст джерелаPerić, Stojan, Vladana Marković, Ayşe Candayan, Els De Vriendt, Nikola Momčilović, Andrija Savić, Nataša Dragašević-Mišković, et al. "Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia." Cells 11, no. 18 (September 8, 2022): 2804. http://dx.doi.org/10.3390/cells11182804.
Повний текст джерелаПухликов, Александр Валентинович, та Aleksandr Valentinovich Pukhlikov. "Бирациональная геометрия многомерных многообразий Фано". Sovremennye Problemy Matematiki 19 (2014): 7–173. http://dx.doi.org/10.4213/spm52.
Повний текст джерелаZiegler, Marvin, Bianca E. Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I. Kornblum, and Darius Ebrahimi-Fakhari. "Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7." Neurology Genetics 7, no. 1 (December 29, 2020): e544. http://dx.doi.org/10.1212/nxg.0000000000000544.
Повний текст джерелаHand, Collette Kathleen, Geneviève Bernard, Marie-Pierre Dubé, Michael Israel Shevell, and Guy Armand Rouleau. "A Novel PLP1 Mutation Further Expands the Clinical Heterogeneity at the Locus." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 39, no. 2 (March 2012): 220–24. http://dx.doi.org/10.1017/s0317167100013263.
Повний текст джерелаLay, Patrick Chase, and Gayle Woodson. "SP352 – Balloon-assisted removal of obstructing bronchial granuloma." Otolaryngology - Head and Neck Surgery 141, no. 3 (September 2009): P202. http://dx.doi.org/10.1016/j.otohns.2009.06.648.
Повний текст джерелаAlmasoudi, Wejdan, Christer Nilsson, Ulrika Kjellström, Kevin Sandeman, and Andreas Puschmann. "Co-occurrence of CLCN2-related leukoencephalopathy and SPG56." Clinical Parkinsonism & Related Disorders 8 (2023): 100189. http://dx.doi.org/10.1016/j.prdoa.2023.100189.
Повний текст джерелаMignarri, Andrea, Alessandro Malandrini, Marina Del Puppo, Alessandro Magni, Lucia Monti, Federica Ginanneschi, Alessandra Tessa, Filippo Maria Santorelli, Antonio Federico, and Maria Teresa Dotti. "Treatment of SPG5 with cholesterol-lowering drugs." Journal of Neurology 262, no. 12 (November 14, 2015): 2783–85. http://dx.doi.org/10.1007/s00415-015-7971-5.
Повний текст джерелаHanna, John, David Waterman, Monica Boselli, and Daniel Finley. "Spg5 Protein Regulates the Proteasome in Quiescence." Journal of Biological Chemistry 287, no. 41 (August 17, 2012): 34400–34409. http://dx.doi.org/10.1074/jbc.m112.390294.
Повний текст джерелаДисертації з теми "SPG52"
Angelica, D'Amore. "Next Generation Molecular Studies of Hereditary Spastic Paraplegias in Men and Zebrafish." Doctoral thesis, Università di Siena, 2020. http://hdl.handle.net/11365/1105261.
Повний текст джерелаMONTIERI, PASQUA. "Studio clinico e genetico-molecolare in paraparesi spastiche ereditarie ad esordio precoce." Doctoral thesis, Università degli Studi di Roma "Tor Vergata", 2010. http://hdl.handle.net/2108/1178.
Повний текст джерелаThe hereditary spastic paraplegias (HSPs) are an etiologically heterogeneous group of neurological disorders which results from the selective degeneration of upper motor neurons (UMNs), of which key diagnostic clinical findings are spasticity and pyramidal weakness of lower limbs. HSP can be classified clinically according to mode of inheritance, age of onset or clinical phenotype. The disorder is inherited most often as an autosomal dominant trait, with autosomal recessive and X-linked inheritance occurring rarely and very rarely, respectively. Few epidemiological studies of HSP have been done, but prevalence is estimated at 3–10 cases per 100 000 population in western countries, in which approximately ADHSPs account for 80% of all HSPs (with SPG4 and SPG3A being the most common forms). Although genetically diverse with 46 genetic loci for HSP (of which 5 reserved) and 20 genes identified, it is often difficult to separate the disorders on clinical grounds. This phenotypic uniformity perhaps reflects a final common pathway in the disease process which results in degeneration of the corticospinal tracts and posterior columnes. Advances in recent years identifying the genes at half of these loci have suggested that disruption in any of the following: axonal transport, cytoskeleton regulation, mitochondrial function, myelin maintenance and assembly and neuronal migration may cause axonal damage in HSP. This study aims at genetic-molecular investigation of families affected by early onset forms of ADHSP, ARHSP, and apparently sporadic cases, as with “uncomplicated” or “complicated” clinical phenotype. Two point linkage analyses were performed in a ADHSP family to 8 known autosomal dominant loci (SPG3A, SPG4, SPG6, SPG8, SPG10, SPG12, SPG13, SPG31). The data indicated that the disorder in this kindred was linked to the known HSP locus SPG3A. Sequencing the SPG3A gene coding exons and flanking intronic regions disclosed a novel heterozygous missense mutation in exon 12 at nucleotide c.1246 C>T (p.Arg416Cys). The Arginine 416 is highly conserved among species. I analysed the coding region and exon–intron boundaries of 3 “early onset” HSP genes, SPG3A, SPG5A and SPG42, by direct sequencing in a total serie of 9 unrelated autosomal dominant and 3 autosomal recessive hereditary spastic paraplegia index patients, and in 18 unrelated index patients with apparently sporadic hereditary spastic paraplegia, manifesting either pure or complex forms of the disease. Multiplex ligation-dependent probe amplification performed in SPG3A candidate patients (probe mixtures P165-HSP-B1, MRC-Holland, The Netherlands) did not detect any pathogenic changes. By direct sequencing I identified five, including three novel, mutations, one segregating in two unrelated families, the others in apparently sporadic cases. Four of these mutations were missense: c.1246 C>T (p.R416C) and c.1243 C>T (p.R415W) in SPG3A gene, c. 995 T>C (p.F264S) and c.344C>T (p.S115F) in SPG5A gene. One resulted in a frameshift with the introduction of a premature stop codon at the C-terminal of the protein: c.1362insT (p.A453CfsX470) in SPG5A gene. Any pathogenic changes was detected in SPG42 gene. Interestingly, both early-age onset and possible anticipatory phenomena were observed in the two families showing mutation p.R416C in ATL1. These results confirm data observed in literature according to which the SPG3A and SPG5A genes show an high mutational frequency in early onset forms of ADHSP and ARHSP (respectively 20% and 7%) and apparently sporadic cases.
Oteyza, Andrés de [Verfasser], and Ludger [Akademischer Betreuer] Schöls. "Gene identification in Hereditary Spastic Paraplegias and characterization of Spastic Paraplegia type 58 (SPG58) / Andrés de Oteyza ; Betreuer: Ludger Schöls." Tübingen : Universitätsbibliothek Tübingen, 2016. http://d-nb.info/1165236532/34.
Повний текст джерелаWong, Vernon. "2-D Melting in Excimer-Laser Irradiated Polycrystalline Silicon Films." Thesis, 2021. https://doi.org/10.7916/d8-x01m-sp52.
Повний текст джерелаMignarri, Andrea. "Fighting against neurotoxic oxysterols: new insights from cerebrotendinous xanthomatosis and spastic paraplegia type 5 (SPG5)." Doctoral thesis, 2018. http://hdl.handle.net/2158/1120093.
Повний текст джерелаEisenberg, André. "Molekulare Charakterisierung des COPS5-Gens und seines Genproduktes als Kandidat für die Spastische Spinalparalyse." Doctoral thesis, 2011. http://hdl.handle.net/11858/00-1735-0000-0006-B1B3-C.
Повний текст джерелаLüders, Katja. "In vivo approach to myelin turnover and oligodendrocyte-dependent axonal integrity." Doctoral thesis, 2018. http://hdl.handle.net/11858/00-1735-0000-002E-E4CC-A.
Повний текст джерелаКниги з теми "SPG52"
Ar Sp52 Viva Espanol: Grades K-3. Renaissance Learning Inc, 2002.
Знайти повний текст джерелаMochel, Fanny. Spastic Paraplegia Type 5. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0041.
Повний текст джерелаТези доповідей конференцій з теми "SPG52"
Parras, Teresa. "SP52 Update on pecs block." In ESRA Abstracts, 39th Annual ESRA Congress, 22–25 June 2022. BMJ Publishing Group Ltd, 2022. http://dx.doi.org/10.1136/rapm-2022-esra.58.
Повний текст джерела