Relevant bibliographies by topics / SPG52

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Conference papers

Academic literature on the topic 'SPG52'

Author: Grafiati
Published: 14 March 2023

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Journal articles on the topic "SPG52"

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Behne, Robert, Julian Teinert, Miriam Wimmer, 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 (2020): 320–34. http://dx.doi.org/10.1093/hmg/ddz310.

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Abstract Deficiency of the adaptor protein complex 4 (AP-4) leads to childhood-onset hereditary spastic paraplegia (AP-4-HSP): SPG47 (AP4B1), SPG50 (AP4M1), SPG51 (AP4E1) and SPG52 (AP4S1). This study aims to evaluate the impact of loss-of-function variants in AP-4 subunits on intracellular protein trafficking using patient-derived cells. We investigated 15 patient-derived fibroblast lines and generated six lines of induced pluripotent stem cell (iPSC)-derived neurons covering a wide range of AP-4 variants. All patient-derived fibroblasts showed reduced levels of the AP4E1 subunit, a surrogate
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Tessa, A., R. Battini, A. Rubegni, et al. "Identification of mutations inAP4S1/SPG52 through next generation sequencing in three families." European Journal of Neurology 23, no. 10 (2016): 1580–87. http://dx.doi.org/10.1111/ene.13085.

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Perić, Stojan, Vladana Marković, Ayşe Candayan, et al. "Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia." Cells 11, no. 18 (2022): 2804. http://dx.doi.org/10.3390/cells11182804.

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Hereditary spastic paraplegia (HSP) is among the most genetically diverse of all monogenic diseases. The aim was to analyze the genetic causes of HSP among adult Serbian patients. The study comprised 74 patients from 65 families clinically diagnosed with HSP during a nine-year prospective period. A panel of thirteen genes was analyzed: L1CAM (SPG1), PLP1 (SPG2), ATL1 (SPG3A), SPAST (SPG4), CYP7B1 (SPG5A), SPG7 (SPG7), KIF5A (SPG10), SPG11 (SPG11), ZYFVE26 (SPG15), REEP1 (SPG31), ATP13A2 (SPG78), DYNC1H1, and BICD2 using a next generation sequencing-based technique. A copy number variation (CNV
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Пухликов, 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.

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Ziegler, Marvin, Bianca E. Russell, Kathrin Eberhardt, et al. "Blended Phenotype of Silver-Russell Syndrome and SPG50 Caused by Maternal Isodisomy of Chromosome 7." Neurology Genetics 7, no. 1 (2020): e544. http://dx.doi.org/10.1212/nxg.0000000000000544.

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ObjectiveUniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a complex neurodevelopmental disorder was caused by uniparental isodisomy, a detailed clinical and molecular characterization was performed.MethodsA combination of clinical, molecular, and imaging data and functional studies in patient-derived fibroblasts.ResultsWe report a 4-year-old female with a blended, complex phenotype of Silver-Russell syndrome (SRS) and hereditary spastic paraplegia type 50 (SPG50) caused by total maternal isodisomy of chromosome
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Hand, 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 (2012): 220–24. http://dx.doi.org/10.1017/s0317167100013263.

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Objectives:To characterize at clinical and molecular levels a family presenting with X-linked recessive Hereditary Spastic Paraplegia (HSP).Background:HSPs are a large group of genetically heterogeneous neurodegenerative disorders characterized by progressive upper motor neuron signs. Mutations in the proteolipid protein (PLP1) gene have been identified in families linked to the SPG2 locus on chromosome Xq22. However, Pelizaeus-Merzbacher disease (PMD) is also an X-linked recessive neurological disorder caused by PLP1 mutations.Methods:The SPG2 locus was investigated by linkage analysis in the
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Lay, Patrick Chase, and Gayle Woodson. "SP352 – Balloon-assisted removal of obstructing bronchial granuloma." Otolaryngology - Head and Neck Surgery 141, no. 3 (2009): P202. http://dx.doi.org/10.1016/j.otohns.2009.06.648.

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Almasoudi, 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.

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Mignarri, Andrea, Alessandro Malandrini, Marina Del Puppo, et al. "Treatment of SPG5 with cholesterol-lowering drugs." Journal of Neurology 262, no. 12 (2015): 2783–85. http://dx.doi.org/10.1007/s00415-015-7971-5.

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Hanna, John, David Waterman, Monica Boselli, and Daniel Finley. "Spg5 Protein Regulates the Proteasome in Quiescence." Journal of Biological Chemistry 287, no. 41 (2012): 34400–34409. http://dx.doi.org/10.1074/jbc.m112.390294.

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Dissertations / Theses on the topic "SPG52"

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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.

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The term Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss of corticospinal motor tract function, lower limb spasticity, and weakness. Recent clinical use of next generation sequencing (NGS) methodologies suggests that NGS facilitates the diagnostic approach to HSP, but the power of this method as a first-tier diagnostic procedure is unclear. The larger-than-expected genetic heterogeneity— there are over 80 potential disease-associated genes— and frequent overlap with other
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MONTIERI, 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.

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Le paraparesi spastiche ereditarie (HSPs) rappresentano un gruppo eterogeneo di disturbi neurologici con interessamento del motoneurone superiore (UMND) la cui caratteristica clinica prevalente è la spasticità e l’ipostenia piramidale degli arti inferiori. HSP può essere classificata clinicamente in accordo alla modalità di ereditarietà, età di insorgenza o il fenotipo clinico. Questo disturbo è ereditato più spesso secondo la modalità autosomica dominante, meno frequentemente con ereditarietà autosomica recessiva e raramente secondo modalità di trasmissione X-linked. Pochi studi epidemiol
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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.

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Wong, Vernon. "2-D Melting in Excimer-Laser Irradiated Polycrystalline Silicon Films." Thesis, 2021. https://doi.org/10.7916/d8-x01m-sp52.

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This thesis examines the excimer-laser-induced melting of ELA-prepared silicon films using in situ transient reflectance and transmission analysis. The results clearly show that these polycrystalline films, which consist of columnar grains in contact with SiO₂, can melt in a largely and remarkably 2-D manner. Based on the presently and previously obtained experimental results, as well as considering the thermal, thermodynamic, and kinetic aspects of the melting-transition-relevant details, we suggest a model that consists of grain-boundary-initiated melting, followed by lateral melting proceed
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Mignarri, 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.

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Chapter 1 Cerebrotendinous xanthomatosis (CTX) and spastic paraplegia type 5 (SPG5) are autosomal recessive bile acid disorders characterized by accumulation of neurotoxic oxysterols which leads to central nervous system damage causing significant disability if the disorders are not early treated. CTX patients are treated with chenodeoxycholic acid (CDCA), while SPG5 subjects may benefit from a cholesterol lowering-therapy. Chapter 2 Since CTX is a chronic disorder leading to progressive deterioration and premature death if not treated, all authors agree on the need for early diagnosis and
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Eisenberg, 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.

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Lüders, 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.

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Books on the topic "SPG52"

1

Ar Sp52 Viva Espanol: Grades K-3. Renaissance Learning Inc, 2002.

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Mochel, Fanny. Spastic Paraplegia Type 5. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0041.

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Spastic paraplegia type 5 (SPG5) is an autosomal recessive hereditary spastic paraplegia due to mutations in CYP7B1, which encodes oxysterol 7α‎-hydroxylase. Oxysterol 7α‎-hydroxylase is involved in the synthesis of bile acids from cholesterol. CYP7B1 mutations are responsible for rare forms of liver failure in infancy as well as lower motor neuron degeneration in adults with no obvious genotype-phenotype correlation. SPG5 is mostly characterized by spastic paraplegia with prominent posterior column sensory impairment that can lead to sensory ataxia and bladder dysfunction. SPG5 can easily be
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Conference papers on the topic "SPG52"

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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.

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