Journal articles on the topic 'Paraplegin'
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Atorino, Luigia, Laura Silvestri, Mirko Koppen, et al. "Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia." Journal of Cell Biology 163, no. 4 (2003): 777–87. http://dx.doi.org/10.1083/jcb.200304112.
Full textKoppen, Mirko, Metodi D. Metodiev, Giorgio Casari, Elena I. Rugarli, and Thomas Langer. "Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia." Molecular and Cellular Biology 27, no. 2 (2006): 758–67. http://dx.doi.org/10.1128/mcb.01470-06.
Full textAkhtar, Ammara, Sobia Nazir Choudhry, Rana Muhammad Mateen, and Mureed Hussain. "Genetics A Comprehensive In Silico Analysis of Deleterious SNPs of Paraplegin Protein Associated with Hereditary Spastic Paraplegia through Mitochondrial Dysfunction." BioScientific Review 2, no. 2 (2020): 1–14. http://dx.doi.org/10.32350/bsr.0202.01.
Full textAlmomen, MM, KA Martens, A. Hanson, L. Korngut, and G. pfeffer. "P.071 Novel mutations in SPG7 identified from patients with late-onset spasticity." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (2018): S35. http://dx.doi.org/10.1017/cjn.2018.173.
Full textElleuch, N., C. Depienne, A. Benomar, et al. "Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia." Neurology 66, no. 5 (2006): 654–59. http://dx.doi.org/10.1212/01.wnl.0000201185.91110.15.
Full textDuvezin-Caubet, Stéphane, Mirko Koppen, Johannes Wagener, et al. "OPA1 Processing Reconstituted in Yeast Depends on the Subunit Composition of the m-AAA Protease in Mitochondria." Molecular Biology of the Cell 18, no. 9 (2007): 3582–90. http://dx.doi.org/10.1091/mbc.e07-02-0164.
Full textGelbard, Harris A. "Synapses and Sisyphus: life without paraplegin." Journal of Clinical Investigation 113, no. 2 (2004): 185–87. http://dx.doi.org/10.1172/jci20783.
Full textGelbard, H. A. "Synapses and Sisyphus: life without paraplegin." Journal of Clinical Investigation 113, no. 2 (2004): 185–87. http://dx.doi.org/10.1172/jci200420783.
Full textPirozzi, M. "Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia." Journal of Clinical Investigation 116, no. 1 (2005): 202–8. http://dx.doi.org/10.1172/jci26210.
Full textPirozzi, Marinella, Angelo Quattrini, Gennaro Andolfi, et al. "Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia." Journal of Clinical Investigation 124, no. 2 (2014): 871. http://dx.doi.org/10.1172/jci75082.
Full textCasari, Giorgio, Maurizio De Fusco, Sonia Ciarmatori, et al. "Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease." Cell 93, no. 6 (1998): 973–83. http://dx.doi.org/10.1016/s0092-8674(00)81203-9.
Full textKoppen, Mirko, Florian Bonn, Sarah Ehses, and Thomas Langer. "Autocatalytic Processing of m-AAA Protease Subunits in Mitochondria." Molecular Biology of the Cell 20, no. 19 (2009): 4216–24. http://dx.doi.org/10.1091/mbc.e09-03-0218.
Full textÇopuroğlu, Burak, Ali Ulvi Uca, Ayse Gul Zamani, Mahmut Selman Yıldırım, Mustafa Altaş, and Betül Okur Altındaş. "The role of spastin and paraplegin genes in primary progressive multiple sclerosis." Turkish Journal of Neurology 30, no. 4 (2024): 236–43. https://doi.org/10.55697/tnd.2024.12.
Full textKim, Mun ki, Hyeon soo Park, Jea hyeon Cho, Gon sup Kim, and Chungkil Won. "Pramipexole protects dopaminergic neurons through paraplegin against 6-hydroxydopamine." NeuroReport 26, no. 2 (2015): 74–80. http://dx.doi.org/10.1097/wnr.0000000000000303.
Full textBrugman, F., H. Scheffer, J. H. J. Wokke, et al. "Paraplegin mutations in sporadic adult-onset upper motor neuron syndromes." Neurology 71, no. 19 (2008): 1500–1505. http://dx.doi.org/10.1212/01.wnl.0000319700.11606.21.
Full textBanfi, Sandro, Maria Teresa Bassi, Grazia Andolfi, et al. "Identification and Characterization of AFG3L2, a Novel Paraplegin-Related Gene." Genomics 59, no. 1 (1999): 51–58. http://dx.doi.org/10.1006/geno.1999.5818.
Full textCoppola, Massimiliano, Alessandro Pizzigoni, Sandro Banfi, Maria Teresa Bassi, Giorgio Casari, and Barbara Incerti. "Identification and Characterization of YME1L1, a Novel Paraplegin-Related Gene." Genomics 66, no. 1 (2000): 48–54. http://dx.doi.org/10.1006/geno.2000.6136.
Full textLiu, Yihui, Jiang Xu, Wanyun Tao, et al. "Exome Sequencing Identifies a Mutation (Y740C) in Spastic Paraplegia 7 Gene Associated with Adult-Onset Primary Lateral Sclerosis in a Chinese Family." European Neurology 81, no. 1-2 (2019): 87–93. http://dx.doi.org/10.1159/000500672.
Full textMancuso, Giuseppe, Esther Barth, Pietro Crivello, and Elena I. Rugarli. "Alternative Splicing of Spg7, a Gene Involved in Hereditary Spastic Paraplegia, Encodes a Variant of Paraplegin Targeted to the Endoplasmic Reticulum." PLoS ONE 7, no. 5 (2012): e36337. http://dx.doi.org/10.1371/journal.pone.0036337.
Full textFinsterer, Josef. "Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion." Movement Disorders 34, no. 12 (2019): 1931–32. http://dx.doi.org/10.1002/mds.27905.
Full textMcDermott, C. J., R. K. Dayaratne, J. Tomkins, et al. "Paraplegin gene analysis in hereditary spastic paraparesis (HSP) pedigrees in northeast England." Neurology 56, no. 4 (2001): 467–71. http://dx.doi.org/10.1212/wnl.56.4.467.
Full textBellinvia, Angelo, Luisa Pastò, Claudia Niccolai, et al. "A new paraplegin mutation in a patient with primary progressive multiple sclerosis." Multiple Sclerosis and Related Disorders 44 (September 2020): 102302. http://dx.doi.org/10.1016/j.msard.2020.102302.
Full textThal, Dietmar, Stephan Züchner, Stephan Gierer та ін. "Abnormal Paraplegin Expression in Swollen Neurites, τ- and α-Synuclein Pathology in a Case of Hereditary Spastic Paraplegia SPG7 with an Ala510Val Mutation". International Journal of Molecular Sciences 16, № 10 (2015): 25050–66. http://dx.doi.org/10.3390/ijms161025050.
Full textMcDermott, Christopher J., Dewi Roberts, Janine Tomkins, Kate M. Bushby, and Pamela J. Shaw. "Spastin and paraplegin gene analysis in selected cases of motor neurone disease (MND)." Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders 4, no. 2 (2003): 96–99. http://dx.doi.org/10.1080/14660820310012718.
Full textKarlberg, Tobias, Susanne van den Berg, Martin Hammarström, et al. "Crystal Structure of the ATPase Domain of the Human AAA+ Protein Paraplegin/SPG7." PLoS ONE 4, no. 10 (2009): e6975. http://dx.doi.org/10.1371/journal.pone.0006975.
Full textDe la Casa‐Fages, Beatriz, Gorka Fernández‐Eulate, Josep Gamez, et al. "Reply to: “Mitochondrial Parkinsonism due to SPG7/Paraplegin variants with secondary mtDNA depletion”." Movement Disorders 34, no. 12 (2019): 1932–33. http://dx.doi.org/10.1002/mds.27899.
Full textWecht, Jill M., Ronald E. De Meersman, Joseph P. Weir, Ann M. Spungen, and William A. Bauman. "Cardiac homeostasis is independent of calf venous compliance in subjects with paraplegia." American Journal of Physiology-Heart and Circulatory Physiology 284, no. 6 (2003): H2393—H2399. http://dx.doi.org/10.1152/ajpheart.01115.2002.
Full textRodenbaugh, David W., Heidi L. Collins, Dustin G. Nowacek, and Stephen E. DiCarlo. "Increased susceptibility to ventricular arrhythmias is associated with changes in Ca2+ regulatory proteins in paraplegic rats." American Journal of Physiology-Heart and Circulatory Physiology 285, no. 6 (2003): H2605—H2613. http://dx.doi.org/10.1152/ajpheart.00319.2003.
Full textAshry, Ahmed, Ayman Tarek Mahmoud, and Mohamed Gabr. "Delayed recovery from paraplegia following resections of thoracic meningiomas." Surgical Neurology International 11 (October 2, 2020): 321. http://dx.doi.org/10.25259/sni_575_2020.
Full textElegbe, Oloruntoba, Mirdhu Wickremaratchi, and Martyn Hinchcliffe. "The Patient with Acute Paraplegia: A Problem-Based Review." Acute Medicine Journal 10, no. 1 (2011): 40–44. http://dx.doi.org/10.52964/amja.0462.
Full textLujan, Heidi L., Ying Chen, and Stephen E. DiCarlo. "Paraplegia increased cardiac NGF content, sympathetic tonus, and the susceptibility to ischemia-induced ventricular tachycardia in conscious rats." American Journal of Physiology-Heart and Circulatory Physiology 296, no. 5 (2009): H1364—H1372. http://dx.doi.org/10.1152/ajpheart.01286.2008.
Full textCoarelli, Giulia, Rebecca Schule, Bart P. C. van de Warrenburg, et al. "Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7." Neurology 92, no. 23 (2019): e2679-e2690. http://dx.doi.org/10.1212/wnl.0000000000007606.
Full textFerreirinha, Fatima, Angelo Quattrini, Marinella Pirozzi, et al. "Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport." Journal of Clinical Investigation 113, no. 2 (2004): 231–42. http://dx.doi.org/10.1172/jci200420138.
Full textRichter, Uwe, Kah Ying Ng, Fumi Suomi, et al. "Mitochondrial stress response triggered by defects in protein synthesis quality control." Life Science Alliance 2, no. 1 (2019): e201800219. http://dx.doi.org/10.26508/lsa.201800219.
Full textLin, Xiang, Hui-Zhen Su, En-Lin Dong, et al. "Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia." Brain 142, no. 8 (2019): 2238–52. http://dx.doi.org/10.1093/brain/awz158.
Full textGiacomini, Leonardo, Roger Neves Mathias, Andrei Fernandes Joaquim, Mateus Dal Fabbro, Enrico Ghizoni, and Helder Tedeschi. "Is there a right time for surgery in paraplegic patients secondary to non traumatic spinal cord compression?" Einstein (São Paulo) 10, no. 4 (2012): 508–11. http://dx.doi.org/10.1590/s1679-45082012000400020.
Full textChavhan, Dinesh G., Amita A. Mehta, and Sarasawti Iyer. "Study of the availability of home modifications in paraplegics." International Journal Of Community Medicine And Public Health 11, no. 8 (2024): 3069–72. http://dx.doi.org/10.18203/2394-6040.ijcmph20242165.
Full textShin, Sanghoon, Jinyoung Park, Juntaek Hong, and Jung Hyun Park. "Improved gait speed in spastic paraplegia: a new modality." BMJ Supportive & Palliative Care 10, no. 4 (2019): e41-e41. http://dx.doi.org/10.1136/bmjspcare-2018-001738.
Full textCraig, H. Lichtblau, Scott Raffa, Kaveh Assadi, Christopher Warburton, Gabrielle Meli, and Allyson Gorman. "Need for Appropriate Amount and Level of Care in Paraplegics Patients." International Journal of Physical Medicine & Rehabilitation 12, no. 2 (2024): 4. https://doi.org/10.35248/2329-9096.24.12.721.
Full textGuspara, Winta Adhitia. "Exploring Somaesthetic Design and Phenomenology in Understanding Paraplegic Mobility." International Journal of Creative Multimedia 5, no. 2 (2024): 55–63. http://dx.doi.org/10.33093/ijcm.2024.5.2.4.
Full textDreyer, Hans C., Erin L. Glynn, Heidi L. Lujan, Christopher S. Fry, Stephen E. DiCarlo, and Blake B. Rasmussen. "Chronic paraplegia-induced muscle atrophy downregulates the mTOR/S6K1 signaling pathway." Journal of Applied Physiology 104, no. 1 (2008): 27–33. http://dx.doi.org/10.1152/japplphysiol.00736.2007.
Full textMussa, S., S. Kakar, and G. Bentley. "Total Hip Arthroplasty for Late Hip Dislocation in Paraplegia." HIP International 12, no. 3 (2002): 338–41. http://dx.doi.org/10.1177/112070000201200310.
Full textAzevedo, ERFBM, KC Alonso, and A. Cliquet. "Body composition assessment by bioelectrical impedance analysis and body mass index in individuals with chronic spinal cord injury." Journal of Electrical Bioimpedance 7, no. 1 (2019): 2–5. http://dx.doi.org/10.5617/jeb.2421.
Full textYoo, Kyung Y., JongUn Lee, Hak S. Kim, and Woong M. Im. "Hemodynamic and Catecholamine Responses to Laryngoscopy and Tracheal Intubation in Patients with Complete Spinal Cord Injuries." Anesthesiology 95, no. 3 (2001): 647–51. http://dx.doi.org/10.1097/00000542-200109000-00017.
Full textMorita, Tomoyo, and Eiichi Naito. "Facilitation of Hand Proprioceptive Processing in Paraplegic Individuals with Long-Term Wheelchair Sports Training." Brain Sciences 12, no. 10 (2022): 1295. http://dx.doi.org/10.3390/brainsci12101295.
Full textOlmez, Akgun, and Haluk Topaloglu. "HEREDITARY SPASTIC PARAPLEGIA: PATHOGENESIS AND PATHOPHYSIOLOGY." National Journal of Neurology 1, no. 05 (2014): 10–22. http://dx.doi.org/10.61788/njn.v1i14.01.
Full textSrivastava, Sudhir, Aditya Raj, Rishi Agarwal, Sunil Bhosale, and Nandan Marathe. "Management dilemma of tuberculous paraplegia in pregnancy – A case report and review of literature." Surgical Neurology International 11 (December 29, 2020): 470. http://dx.doi.org/10.25259/sni_772_2020.
Full textEhses, Sarah, Ines Raschke, Giuseppe Mancuso, et al. "Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1." Journal of Cell Biology 187, no. 7 (2009): 1023–36. http://dx.doi.org/10.1083/jcb.200906084.
Full textSilva, Gelson Aguiar da, Juliana Neves da Costa, and Thelma Leite de Araujo. "Cuidado de enfermagem ao portador de paraplegia à luz do modelo de adaptação de Roy." Revista de Enfermagem UFPE on line 3, no. 3 (2009): 656. http://dx.doi.org/10.5205/reuol.149-181-1-rv.0303200929.
Full textMesquita Junior, Nelson, Flavia Natalia Marques Kingerski, Giovana Liz Marioto, Fabio Alex Fonseca Viegas, Suzelaine Fidelis da Silva Mesquita, and Sonia Perreto. "Prevalence of deep vein thrombosis in patients with paraplegia caused by traumas." Jornal Vascular Brasileiro 12, no. 4 (2013): 271–77. http://dx.doi.org/10.1590/jvb.2013.051.
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