Showing 101 - 120 results of 784 for search '"paraplegia"', query time: 0.10s Refine Results
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    New phenotype of RTN2‐related spectrum: Complicated form of spastic paraplegia‐12 by Wotu Tian, Haoran Zheng, Zeyu Zhu, Chao Zhang, Xinghua Luan, Li Cao

    Published 2022-08-01
    “…Abstract Objective Spastic paraplegia‐12 (SPG12) is a subtype of hereditary spastic paraplegia caused by Reticulon‐2 (RTN2) mutations. …”
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    Article
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    Retinal nerve fibre layer loss in hereditary spastic paraplegias is restricted to complex phenotypes. by Wiethoff, S, Zhour, A, Schöls, L, Fischer, M

    Published 2012
    “…To further clarify the specificity of RNFL thinning as a potential marker of neurodegenerative diseases we investigated RNFL thickness in Hereditary Spastic Paraplegia (HSP), an axonal, length-dependent neurodegenerative pathology of the upper motor neurons. …”
    Journal article
  8. 108

    Paraplegia após revascularização cirúrgica do miocárdio: relato de caso Paraplejia después de la revascularización quirúrgica del miocardio: relato de caso Paraplegia after myocardial revascularization: case report by Caetano Nigro Neto, Milton Patricio Chango Iza, Maria Angela Tardelli

    Published 2010-04-01
    “…Neurological evaluation showed: cranial nerves without changes, no complaints of pain below the hips, preserved superficial and deep sensitivity, adequate distal perfusion without edema, and flaccid paraplegia below T8. The echocardiogram did not show any changes. …”
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    Clinical and genetic analysis of ATP13A2 in hereditary spastic paraplegia expands the phenotype by Mehrdad A. Estiar, Etienne Leveille, Dan Spiegelman, Nicolas Dupre, Jean-François Trempe, Guy A. Rouleau, Ziv Gan‐Or

    Published 2020-03-01
    “…Abstract Background Hereditary spastic paraplegias (HSP) are neurodegenerative disorders characterized by lower limb spasticity and weakness, with or without additional symptoms. …”
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    Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia by Shih‐Yu Fang, Ying‐Tsen Chou, Kuo‐Chou Hsu, Shao‐Lun Hsu, Kai‐Wei Yu, Yu‐Shuen Tsai, Yi‐Chu Liao, Pei‐Chien Tsai, Yi‐Chung Lee

    Published 2023-03-01
    “…Abstract Objective NIPA1 mutations have been implicated in hereditary spastic paraplegia (HSP) as the cause of spastic paraplegia type 6 (SPG6). …”
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    Autosomal dominant hereditary spastic paraplegia: Novel mutations in the <it>REEP1 </it>gene (SPG31) by Epplen Joerg T, Arning Larissa, Schlang Katharina J, Stemmler Susanne

    Published 2008-07-01
    “…<p>Abstract</p> <p>Background</p> <p>Mutations in the <it>SPG4 </it>gene (spastin) and in the <it>SPG3A </it>gene (atlastin) account for the majority of 'pure' autosomal dominant form of hereditary spastic paraplegia (HSP). Recently, mutations in the <it>REEP1 </it>gene were identified to cause autosomal dominant HSP type SPG31. …”
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    Impetuous expansion of pure epidural capillary hemangioma in pregnancy: A rare cause of acute paraplegia by Shruti Gupta, MCh, Suyash Singh, MCh, Sudarsana Gogoi, MBBS, Kuntal K. Das, MCh, Awadhesh Kumar Jaiswal, MCh

    Published 2019-09-01
    “…Conclusion: PESH of capillary variety is a rare cause of acute paraplegia in pregnancy. Preoperative suspicion of this diagnosis is extremely unlikely and regardless of the timing of surgery, such acute paraplegias rarely improve completely. …”
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    RINT1 deficiency disrupts lipid metabolism and underlies a complex hereditary spastic paraplegia by Nathalie Launay, Montserrat Ruiz, Laura Planas-Serra, Edgard Verdura, Agustí Rodríguez-Palmero, Agatha Schlüter, Leire Goicoechea, Cristina Guilera, Josefina Casas, Felix Campelo, Emmanuelle Jouanguy, Jean-Laurent Casanova, Odile Boespflug-Tanguy, Maria Vazquez Cancela, Luis González Gutiérrez-Solana, Carlos Casasnovas, Estela Area-Gomez, Aurora Pujol

    Published 2023-07-01
    “…Here, we describe 3 individuals from 2 unrelated families with novel biallelic RINT1 loss-of-function variants who presented with early onset spastic paraplegia, ataxia, optic nerve hypoplasia, and dysmorphic features, broadening the previously described phenotype. …”
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