Works matching Paraplegia

Results: 5000
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    Unexpected complexity in the molecular diagnosis of spastic paraplegia 11.

    Published in:
    Molecular Genetics & Genomic Medicine, 2024, v. 12, n. 6, p. 1, doi. 10.1002/mgg3.2475
    By:
    • Mademont‐Soler, Irene;
    • Esteba‐Castillo, Susanna;
    • Jiménez‐Xifra, Aida;
    • Alemany, Berta;
    • Ribas‐Vidal, Núria;
    • Cutillas, Maria;
    • Coll, Mònica;
    • Pinsach, Mel·lina;
    • Pagans, Sara;
    • Alcalde, Mireia;
    • Viñas‐Jornet, Marina;
    • Montero‐Vale, Mercedes;
    • de Castro‐Miró, Marta;
    • Rodríguez, Jairo;
    • Armengol, Lluís;
    • Queralt, Xavier;
    • Obón, María
    Publication type:
    Article
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    Treatment of ZC4H2 Variant-Associated Spastic Paraplegia with Selective Dorsal Rhizotomy and Intensive Postoperative Rehabilitation: A Case Report.

    Published in:
    Tohoku Journal of Experimental Medicine, 2024, v. 262, n. 4, p. 239, doi. 10.1620/tjem.2024.J004
    By:
    • Toshiki Inotani;
    • Akira Horaguchi;
    • Yuko Morishita;
    • Ayuko Yoshida;
    • Misaki Otomo;
    • Makoto Suzuki;
    • Takehiko Inui;
    • Yukimune Okubo;
    • Shigemasa Komatsu;
    • Chika Mizuno;
    • Yuko Takahashi;
    • Tatsuhiro Ochiai;
    • Takeshi Kinjo;
    • Takashi Asato;
    • Jun Takayama;
    • Gen Tamiya;
    • Naoya Saijo;
    • Atsuo Kikuchi;
    • Kazuhiro Haginoya
    Publication type:
    Article
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    Pathogenic Variants in ABHD16A Cause a Novel Psychomotor Developmental Disorder With Spastic Paraplegia.

    Published in:
    Frontiers in Neurology, 2021, v. 12, p. 1, doi. 10.3389/fneur.2021.720201
    By:
    • Yahia, Ashraf;
    • Elsayed, Liena E. O.;
    • Valter, Remi;
    • Hamed, Ahlam A. A.;
    • Mohammed, Inaam N.;
    • Elseed, Maha A.;
    • Salih, Mustafa A.;
    • Esteves, Typhaine;
    • Auger, Nicolas;
    • Abubaker, Rayan;
    • Koko, Mahmoud;
    • Abozar, Fatima;
    • Malik, Hiba;
    • Adil, Rawaa;
    • Emad, Sara;
    • Musallam, Mhammed Alhassan;
    • Idris, Razaz;
    • Eltazi, Isra Z. M.;
    • Babai, Arwa;
    • Ahmed, Elhami A. A.
    Publication type:
    Article
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    Loss-of-function mutations in the ATP13A2/PARK9 gene cause complicated hereditary spastic paraplegia (SPG78).

    Published in:
    2017
    By:
    • Estrada-Cuzcano, Alejandro;
    • Martin, Shaun;
    • Chamova, Teodora;
    • Synofzik, Matthis;
    • Timmann, Dagmar;
    • Holemans, Tine;
    • Andreeva, Albena;
    • Reichbauer, Jennifer;
    • De Rycke, Riet;
    • Dae-In Chang;
    • van Veen, Sarah;
    • Samuel, Jean;
    • Schöls, Ludger;
    • Pöppel, Thorsten;
    • Mollerup Sørensen, Danny;
    • Asselbergh, Bob;
    • Klein, Christine;
    • Zuchner, Stephan;
    • Jordanova, Albena;
    • Vangheluwe, Peter
    Publication type:
    journal article
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    CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5.

    Published in:
    Brain: A Journal of Neurology, 2009, v. 132, n. 6, p. 1589, doi. 10.1093/brain/awp073
    By:
    • Goizet, Cyril;
    • Boukhris, Amir;
    • Durr, Alexandra;
    • Beetz, Christian;
    • Truchetto, Jeremy;
    • Tesson, Christelle;
    • Tsaousidou, Maria;
    • Forlani, Sylvie;
    • Guyant-Maréchal, Lucie;
    • Fontaine, Bertrand;
    • Guimarães, João;
    • Isidor, Bertrand;
    • Chazouillères, Olivier;
    • Wendum, Dominique;
    • Grid, Djamel;
    • Chevy, Francoise;
    • Chinnery, Patrick F.;
    • Coutinho, Paula;
    • Azulay, Jean-Philippe;
    • Feki, Imed
    Publication type:
    Article
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    Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families.

    Published in:
    Clinical Genetics, 2023, v. 103, n. 3, p. 346, doi. 10.1111/cge.14264
    By:
    • Becker, Aurélie;
    • Felici, Charlotte;
    • Lambert, Laëtitia;
    • de Saint Martin, Anne;
    • Abi‐Warde, Marie‐Thérèse;
    • Schaefer, Elise;
    • Zix, Christian;
    • Zamani, Mina;
    • Sadeghian, Saeid;
    • Zeighami, Jawaher;
    • Seifi, Tahereh;
    • Azizimalamiri, Reza;
    • Shariati, Gholamreza;
    • Galehdari, Hamid;
    • Selig, Mareike;
    • Ding, Can;
    • Duerinckx, Sarah;
    • Pirson, Isabelle;
    • Abramowicz, Marc;
    • Clément, Guillemette
    Publication type:
    Article
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    From spastic paraplegia to infantile neurodegenerative disorder: Expanding the phenotypic spectrum associated with biallelic SPAST variants.

    Published in:
    European Journal of Neurology, 2025, v. 32, n. 1, p. 1, doi. 10.1111/ene.70025
    By:
    • Degoutin, Manon;
    • Angelini, Chloé;
    • Bar, Claire;
    • El Khedoud, Wahiba Amer;
    • Barnerias, Christine;
    • Boulariah‐Hadjou, Razika;
    • Estiar, Mehrdad A.;
    • Ewenczyk, Claire;
    • Gan‐Or, Ziv;
    • Lacombe, Didier;
    • Lefeuvre, Claire;
    • Majethia, Purvi;
    • Messaoud‐Khelifi, Mouna;
    • Narayanan, Dhanya Lakshmi;
    • Rouleau, Guy A.;
    • Suchowersky, Oksana;
    • Shukla, Anju;
    • Guillaud‐Bataille, Marine;
    • Stevanin, Giovanni;
    • Goizet, Cyril
    Publication type:
    Article
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