Статті в журналах з теми "SPG52"
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Ознайомтеся з топ-50 статей у журналах для дослідження на тему "SPG52".
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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 джерелаBlack, Angela. "SP152 – Bioluminescent bacteria and its emerging role in otolaryngology." Otolaryngology - Head and Neck Surgery 141, no. 3 (September 2009): P135. http://dx.doi.org/10.1016/j.otohns.2009.06.426.
Повний текст джерелаTaylor, Kevin, Rahul K. Shah, and Sukgi Choi. "SP252 – Demographics of an inner-city pediatric voice clinic." Otolaryngology - Head and Neck Surgery 141, no. 3 (September 2009): P170—P171. http://dx.doi.org/10.1016/j.otohns.2009.06.542.
Повний текст джерелаCriscuolo, C., R. Carbone, M. Lieto, S. Peluso, A. Guacci, A. Filla, M. Quarantelli, R. Lanzillo, V. Brescia Morra, and G. De Michele. "SPG5 and multiple sclerosis: clinical and genetic overlap?" Acta Neurologica Scandinavica 133, no. 6 (September 15, 2015): 410–14. http://dx.doi.org/10.1111/ane.12476.
Повний текст джерелаCiccolella, Marianna, Filippo M. Santorelli, Roberta Biancheri, and Andrea Rossi. "SPG5-related spastic paraplegia and white matter abnormalities." Neuromuscular Disorders 19, no. 7 (July 2009): 507–8. http://dx.doi.org/10.1016/j.nmd.2009.05.002.
Повний текст джерелаGonzalez, Michael, Sheela Nampoothiri, Cornelia Kornblum, Andrés Caballero Oteyza, Jochen Walter, Ioanna Konidari, William Hulme, et al. "Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)." European Journal of Human Genetics 21, no. 11 (March 13, 2013): 1214–18. http://dx.doi.org/10.1038/ejhg.2013.29.
Повний текст джерелаAlmasoudi, W., A. Puschmann, and C. Nilsson. "Co-occurrence of leukoencephalopathy with ataxia and SPG56 in one family." Parkinsonism & Related Disorders 79 (October 2020): e112. http://dx.doi.org/10.1016/j.parkreldis.2020.06.408.
Повний текст джерелаРуденская, Г. Е., В. А. Кадникова, А. Л. Чухрова, Т. В. Маркова, and О. П. Рыжкова. "Rare autosomal recessive spastic paraplegias." Nauchno-prakticheskii zhurnal «Medicinskaia genetika», no. 11() (November 29, 2019): 26–35. http://dx.doi.org/10.25557/2073-7998.2019.11.26-35.
Повний текст джерелаWallwitz, Jacqueline, Gabriela Berg, Emilio Casanova, Dagmar Stoiber, and Anton Bauer. "SP152NOVEL ELISA FOR THE MEASUREMENT OF INCREASED ENDOSTATIN IN MICE WITH GLOMERULONEPHRITIS." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii155. http://dx.doi.org/10.1093/ndt/gfx141.sp152.
Повний текст джерелаKocak, Sibel, Arzu Ozdemir Kayalar, Fatih Akbay, Aysegul Kudu, Gunden Deger, Murvet Yılmaz, Kamile Gulcin Eken, and Suheyla Apaydin. "SP252LEPTOSPIROSIS WITH ACUTE RENAL FAILURE AND VASCULITIS WITH PERIPHERAL GANGRENE OF THE LOWER EXTREMITIES: A CASE REPORT." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii190. http://dx.doi.org/10.1093/ndt/gfx144.sp252.
Повний текст джерелаKalaska, Bartlomiej, Krystyna Pawlak, Ewa Oksztulska-Kolanek, Tomasz Domaniewski, Beata Znorko, Malgorzata Karbowska, Aleksandra Citkowska, Piotr Jakubowski, and Dariusz Pawlak. "SP352ASSOCIATION BETWEEN CENTRAL KYNURENINE METABOLISM AND BONE STRENGHT IN RATS WITH CHRONIC KIDNEY DISEASE." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii228—iii227. http://dx.doi.org/10.1093/ndt/gfx147.sp352.
Повний текст джерелаRais, Lamia, Mouhaned Hassen, Amina Gargouri, Hela Jbali, rania Khedher, Wided Smaoui, Madiha Krid, et al. "SP452PERIPHERAL DIABETIC NEUROPATHY IN PATIENTS ON CHRONIC HEMODIALYSIS." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii275. http://dx.doi.org/10.1093/ndt/gfx149.sp452.
Повний текст джерелаXu, Tao, Bin Peng, and Niansong Wang. "SP552EFFECTS OF HEMODIALYSIS COMBINED WITH HEMODIAFILTRATION AND CALCIUM SUPPLEMENTS ON CARDIAC STRUCTURE & FUNCTION IN MAINTENANCE HEMODIALYSIS PATIENTS WITH DIABETIC NEPHROPATHY." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii318—iii319. http://dx.doi.org/10.1093/ndt/gfx152.sp552.
Повний текст джерелаRhee, Connie, Amy You, Elani Streja, Rajnish Mehrotra, Matthew Rivara, Yoshitsugu Obi, Csaba Kovesdy, and Kamyar Kalantar-Zadeh. "SP652DIALYSIS SCHEDULE AND DAY-OF-WEEK MORTALITY IN A NATIONAL DIALYSIS COHORT." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii355—iii357. http://dx.doi.org/10.1093/ndt/gfx154.sp652.
Повний текст джерелаLeone, Francesca, Paolo Gigliotti, Antonella La Russa, Martina Bonofiglio, Danilo Lofaro, Anna Perri, Donatella Vizza, et al. "SP752CARD8 POLYMORPHISM PREDICT URINARY TRACT INFECTION ONSET AFTER RENAL TRANSPLANTATION." Nephrology Dialysis Transplantation 32, suppl_3 (May 1, 2017): iii396. http://dx.doi.org/10.1093/ndt/gfx157.sp752.
Повний текст джерелаDmitrieva, Margarita, Tatiana Letkovskaya, and Kirill Komissarov. "SP052CLINICAL FORMS OF GLOMERULONEPHRITIS WITH EXTRACAPILLARY PROLIFERATION." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i363. http://dx.doi.org/10.1093/ndt/gfy104.sp052.
Повний текст джерелаBharati, Joyita, Krishan Gupta, Rajha Ramachandran, Manish Rathi, Aman Sharma, and Ritambhra Nada. "SP152COMPARISON OF TWO STEROID REGIMENS IN INDUCTION THERAPY OF PROLIFERATIVE LUPUS NEPHRITIS: A RANDOMISED CONTROLLED TRIAL." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i395. http://dx.doi.org/10.1093/ndt/gfy104.sp152.
Повний текст джерелаAllen, Jennifer, David Gardner, Daniel Harvey, Andrew Sharman, Shraddha Kamath, Paula Dhiman, and Mark Devonald. "SP252URINARY CADMIUM AND COPPER AS BIOMARKERS OF ACUTE KIDNEY INJURY AFTER INTENSIVE CARE UNIT ADMISSION." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i428—i429. http://dx.doi.org/10.1093/ndt/gfy104.sp252.
Повний текст джерелаSola, Laura, Susana Gonzalez, Juan Diaz, Federico Yandian, Maria Leyun, Manuela Bello, Karina Parodi, Ricardo Hermo, and Walter Alallon. "SP352ENDOGENOUS ERYTHROPOIETIN AND ITS RELATIONSHIP WITH IRON DEFICIENCY." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i464. http://dx.doi.org/10.1093/ndt/gfy104.sp352.
Повний текст джерелаSileno, Giuseppe, Alice Guerini, Massimo Torreggiani, Marco Colucci, Grazia Bonelli, Davide Catucci, Vittoria Esposito, Alice Mariotto, and Ciro Esposito. "SP552RISKS AND BENEFITS OF ORAL ANTICOAGULATION THERAPY IN HEMODIALYSIS PATIENTS." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i534. http://dx.doi.org/10.1093/ndt/gfy104.sp552.
Повний текст джерелаTrbojevic-Stankovic, Jasna, Edvin Hadžibulić, Branislav Andrić, Zoran Marjanović, Fatmir Birđozlić, and Snežana Pešić. "SP652IS THERE A RELATIONSHIP BETWEEN MALNUTRITION-INFLAMMATION STATUS AND ANXIETY IN MAINTENANCE HEMODIALYSIS PATIENTS?" Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i566. http://dx.doi.org/10.1093/ndt/gfy104.sp652.
Повний текст джерелаPark, Woo Yeong, Ha Yeon Park, Sang Mok Yeo, Seong Sik Kang, Sung Bae Park, Jeongsoo Yoon, Kyubok Jin, and Seungyeup Han. "SP752IMPACT OF TACROLIMUS TROUGH LEVEL IN KIDNEY TRANSPLANT RECIPIENTS ON THE POST-TRANSPLANT CLINICAL OUTCOME." Nephrology Dialysis Transplantation 33, suppl_1 (May 1, 2018): i601—i603. http://dx.doi.org/10.1093/ndt/gfy104.sp752.
Повний текст джерелаTagney, J., and J. C. Haines. "SP52 Evidence-Based Practice: Addressing Gaps in Clinical Nursing Knowledge." European Journal of Cardiovascular Nursing 8, no. 1_suppl (April 2009): S52. http://dx.doi.org/10.1016/s1474-5151(09)60163-8.
Повний текст джерелаPrestsæter, Sjur, Jeanette Koht, Foudil Lamari, Chantal M. E. Tallaksen, Stian Tobias Juel Hoven, Magnus Dehli Vigeland, Kaja Kristine Selmer, and Siri Lynne Rydning. "Elevated hydroxycholesterols in Norwegian patients with hereditary spastic paraplegia SPG5." Journal of the Neurological Sciences 419 (December 2020): 117211. http://dx.doi.org/10.1016/j.jns.2020.117211.
Повний текст джерелаZaidi, Syed Amir, Howard M. Saal, Alberto J. Espay, and Andrew P. Duker. "The “broken wishbone” splenial sign: A diagnostic hallmark for SPG54 spastic ataxia." Journal of the Neurological Sciences 403 (August 2019): 114–16. http://dx.doi.org/10.1016/j.jns.2019.06.012.
Повний текст джерелаLeonardi, Luca, Lucia Ziccardi, Christian Marcotulli, Anna Rubegni, Antonino Longobardi, Mariano Serrao, Eugenia Storti, et al. "Pigmentary degenerative maculopathy as prominent phenotype in an Italian SPG56/CYP2U1 family." Journal of Neurology 263, no. 4 (February 25, 2016): 781–83. http://dx.doi.org/10.1007/s00415-016-8066-7.
Повний текст джерелаYang, Yi-Jing, Zhi-Fan Zhou, Xin-Xin Liao, Ying-Ying Luo, Zi-Xiong Zhan, Mu-Fang Huang, Lu Zhou, Bei-Sha Tang, Lu Shen, and Juan Du. "SPG46 and SPG56 are rare causes of hereditary spastic paraplegia in China." Journal of Neurology 263, no. 10 (August 23, 2016): 2136–38. http://dx.doi.org/10.1007/s00415-016-8256-3.
Повний текст джерелаShimazaki, Haruo, Yoshihisa Takiyama, Hiroyuki Ishiura, Chika Sakai, Yuichi Matsushima, Hideyuki Hatakeyama, Junko Honda, et al. "A homozygous mutation ofC12orf65causes spastic paraplegia with optic atrophy and neuropathy (SPG55)." Journal of Medical Genetics 49, no. 12 (November 27, 2012): 777–84. http://dx.doi.org/10.1136/jmedgenet-2012-101212.
Повний текст джерелаEl Matri, Khaled, Yousra Falfoul, Imen Habibi, Ahmed Chebil, Daniel Schorderet, and Leila El Matri. "Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography." Genes 12, no. 11 (November 15, 2021): 1795. http://dx.doi.org/10.3390/genes12111795.
Повний текст джерелаBiancheri, Roberta, Marianna Ciccolella, Andrea Rossi, Alessandra Tessa, Denise Cassandrini, Carlo Minetti, and Filippo M. Santorelli. "White matter lesions in spastic paraplegia with mutations in SPG5/CYP7B1." Neuromuscular Disorders 19, no. 1 (January 2009): 62–65. http://dx.doi.org/10.1016/j.nmd.2008.10.009.
Повний текст джерелаMinase, Gaku, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima, et al. "An atypical case of SPG56/CYP2U1-related spastic paraplegia presenting with delayed myelination." Journal of Human Genetics 62, no. 11 (July 20, 2017): 997–1000. http://dx.doi.org/10.1038/jhg.2017.77.
Повний текст джерелаOrlacchio, A., T. Kawarai, E. Rogaeva, Y. Q. Song, A. D. Paterson, G. Bernardi, and P. H. St. George-Hyslop. "Clinical and genetic study of a large Italian family linked to SPG12 locus." Neurology 59, no. 9 (November 12, 2002): 1395–401. http://dx.doi.org/10.1212/01.wnl.0000031423.43482.19.
Повний текст джерелаWilkinson, P. A., A. H. Crosby, C. Turner, H. Patel, N. W. Wood, A. H. Schapira, and T. T. Warner. "A clinical and genetic study of SPG5A linked autosomal recessive hereditary spastic paraplegia." Neurology 61, no. 2 (July 21, 2003): 235–38. http://dx.doi.org/10.1212/01.wnl.0000069920.42968.8d.
Повний текст джерелаMasciullo, M., A. Tessa, S. Perazza, F. M. Santorelli, A. Perna, and G. Silvestri. "Hereditary spastic paraplegia: Novel mutations and expansion of the phenotype variability in SPG56." European Journal of Paediatric Neurology 20, no. 3 (May 2016): 444–48. http://dx.doi.org/10.1016/j.ejpn.2016.02.001.
Повний текст джерелаStevanin, G., C. Paternotte, P. Coutinho, S. Klebe, N. Elleuch, J. L. Loureiro, E. Denis, et al. "A new locus for autosomal recessive spastic paraplegia (SPG32) on chromosome 14q12-q21." Neurology 68, no. 21 (May 21, 2007): 1837–40. http://dx.doi.org/10.1212/01.wnl.0000262043.53386.22.
Повний текст джерелаBonneau, D., J. M. Rozet, C. Bulteau, M. Berthier, R. Mettey, R. Gil, A. Munnich, and M. Le Merrer. "X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus." Journal of Medical Genetics 30, no. 5 (May 1, 1993): 381–84. http://dx.doi.org/10.1136/jmg.30.5.381.
Повний текст джерелаSchüle, Rebecca, Teepu Siddique, Han-Xiang Deng, Yi Yang, Sandra Donkervoort, Magnus Hansson, Ricardo E. Madrid, Nailah Siddique, Ludger Schöls, and Ingemar Björkhem. "Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis." Journal of Lipid Research 51, no. 4 (October 7, 2009): 819–23. http://dx.doi.org/10.1194/jlr.m002543.
Повний текст джерелаRubegni, Anna, Carla Battisti, Alessandra Tessa, Alfonso Cerase, Stefano Doccini, Alessandro Malandrini, Filippo M. Santorelli, and Antonio Federico. "SPG2 mimicking multiple sclerosis in a family identified using next generation sequencing." Journal of the Neurological Sciences 375 (April 2017): 198–202. http://dx.doi.org/10.1016/j.jns.2017.01.069.
Повний текст джерелаCloake, Nancy, Jun Yan, Atefeh Aminian, Michael Pender, and Judith Greer. "PLP1 Mutations in Patients with Multiple Sclerosis: Identification of a New Mutation and Potential Pathogenicity of the Mutations." Journal of Clinical Medicine 7, no. 10 (October 11, 2018): 342. http://dx.doi.org/10.3390/jcm7100342.
Повний текст джерелаMeljon, Anna, Peter J. Crick, Eylan Yutuc, Joyce L. Yau, Jonathan R. Seckl, Spyridon Theofilopoulos, Ernest Arenas, Yuqin Wang, and William J. Griffiths. "Mining for Oxysterols in Cyp7b1−/− Mouse Brain and Plasma: Relevance to Spastic Paraplegia Type 5." Biomolecules 9, no. 4 (April 13, 2019): 149. http://dx.doi.org/10.3390/biom9040149.
Повний текст джерелаRimm, D. "SP152 Beyond immunohistochemistry: Accurate, reproducible and quantitative measurement of protein analyte concentrations in fixed tissue." European Journal of Cancer Supplements 7, no. 4 (October 2009): 7. http://dx.doi.org/10.1016/s1359-6349(09)72129-9.
Повний текст джерела