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Items: 1 to 20 of 500

1.
Previously Undescribed Gross HACE1 Deletions as a Cause of Autosomal Recessive Spastic Paraplegia
Valeriia A. Kovalskaia, Victoriia V. Zabnenkova, Marina S. Petukhova, Zhanna G. Markova, Vyacheslav Yu. Tabakov, Oxana P. Ryzhkova
Genes (Basel) 2022 Dec; 13(12): 2186. Published online 2022 Nov 23. doi: 10.3390/genes13122186
PMCID:
PMC9778407
ArticlePubReaderPDF–3.8MCite
2.
Novel Compound Missense and Intronic Splicing Mutation in ALDH18A1 Causes Autosomal Recessive Spastic Paraplegia
Yi-Jun Chen, Zai-Qiang Zhang, Meng-Wen Wang, Yu-Sen Qiu, Ru-Ying Yuan, En-Lin Dong, Zhe Zhao, Hai-Tao Zhou, Ning Wang, Wan-Jin Chen, Xiang Lin
Front Neurol. 2021; 12: 627531. Published online 2021 May 19. doi: 10.3389/fneur.2021.627531
PMCID:
PMC8170465
ArticlePubReaderPDF–1.4MCite
3.
1例常染色体隐性痉挛性截瘫55型的临床特点和C12orf65基因突变分析
林 双竹, 孙 显婷, 麻 宏伟
Zhongguo Dang Dai Er Ke Za Zhi. 2019 Nov 25; 21(11): 1094–1098. Chinese. doi: 10.7499/j.issn.1008-8830.2019.11.008
PMCID:
PMC7389305
ArticlePubReaderPDF–1.8MCite
4.
KIF1A missense mutations in SPG30, an autosomal recessive spastic paraplegia: distinct phenotypes according to the nature of the mutations
Stephan Klebe, Alexander Lossos, Hamid Azzedine, Emeline Mundwiller, Ruth Sheffer, Marion Gaussen, Cecilia Marelli, Magdalena Nawara, Wassila Carpentier, Vincent Meyer, Agnès Rastetter, Elodie Martin, Delphine Bouteiller, Laurent Orlando, Gabor Gyapay, Khalid H El-Hachimi, Batel Zimmerman, Moriya Gamliel, Adel Misk, Israela Lerer, Alexis Brice, Alexandra Durr, Giovanni Stevanin
Eur J Hum Genet. 2012 Jun; 20(6): 645–649. Published online 2012 Jan 18. doi: 10.1038/ejhg.2011.261
PMCID:
PMC3355258
ArticlePubReaderPDF–341KCite
5.
Identification of the SPG15 Gene, Encoding Spastizin, as a Frequent Cause of Complicated Autosomal-Recessive Spastic Paraplegia, Including Kjellin Syndrome
Sylvain Hanein, Elodie Martin, Amir Boukhris, Paula Byrne, Cyril Goizet, Abdelmadjid Hamri, Ali Benomar, Alexander Lossos, Paola Denora, José Fernandez, Nizar Elleuch, Sylvie Forlani, Alexandra Durr, Imed Feki, Michael Hutchinson, Filippo M. Santorelli, Chokri Mhiri, Alexis Brice, Giovanni Stevanin
Am J Hum Genet. 2008 Apr 11; 82(4): 992–1002. Published online 2008 Apr 4. doi: 10.1016/j.ajhg.2008.03.004
PMCID:
PMC2427184
ArticlePubReaderPDF–1.0MCite
6.
Two families with autosomal recessive spastic paraplegia, pigmented maculopathy, and dementia
S. Webb, V. Patterson, M. Hutchinson
J Neurol Neurosurg Psychiatry. 1997 Nov; 63(5): 628–632. doi: 10.1136/jnnp.63.5.628
PMCID:
PMC2169835
SummaryPDF–109KCite
7.
A New Locus for Autosomal Recessive Spastic Paraplegia Associated with Mental Retardation and Distal Motor Neuropathy, SPG14, Maps to Chromosome 3q27-q28
G. Vazza, M. Zortea, F. Boaretto, G. F. Micaglio, V. Sartori, M. L. Mostacciuolo
Am J Hum Genet. 2000 Aug; 67(2): 504–509. Published online 2000 Jun 30. doi: 10.1086/303017
PMCID:
PMC1287196
ArticlePubReaderPDF–167KCite
8.
Putative founder effect of Arg338* AP4M1 (SPG50) variant causing severe intellectual disability, epilepsy and spastic paraplegia: Report of three families
Aurélie Becker, Charlotte Felici, Laëtitia Lambert, Anne de Saint Martin, Marie‐Thérèse Abi‐Warde, Elise Schaefer, Christian Zix, Mina Zamani, Saeid Sadeghian, Jawaher Zeighami, Tahereh Seifi, Reza Azizimalamiri, Gholamreza Shariati, Hamid Galehdari, Mareike Selig, Can Ding, Sarah Duerinckx, Isabelle Pirson, Marc Abramowicz, Guillemette Clément, Bruno Leheup, Philippe Jonveaux, Geneviève Lefort, Myriam Bronner, Mathilde Renaud, Céline Bonnet
Clin Genet. 2023 Mar; 103(3): 346–351. Published online 2022 Dec 2. doi: 10.1111/cge.14264
PMCID:
PMC10108251
ArticlePubReaderPDF–964KCite
9.
Phenotypic and Genetic Heterogeneity of Adult Patients with Hereditary Spastic Paraplegia from Serbia
Stojan Perić, Vladana Marković, Ayşe Candayan, Els De Vriendt, Nikola Momčilović, Andrija Savić, Nataša Dragašević-Mišković, Marina Svetel, Zorica Stević, Ivo Božović, Šarlota Mesaroš, Jelena Drulović, Ivana Basta, Igor Petrović, Olivera Tamaš, Milija Mijajlović, Ivana Novaković, Dragoslav Sokić, Albena Jordanova
Cells. 2022 Sep; 11(18): 2804. Published online 2022 Sep 8. doi: 10.3390/cells11182804
PMCID:
PMC9497238
ArticlePubReaderPDF–817KCite
10.
Macular Dystrophy with Bilateral Macular Telangiectasia Related to the CYP2U1 Pathogenic Variant Assessed with Multimodal Imaging Including OCT-Angiography
Khaled El Matri, Yousra Falfoul, Imen Habibi, Ahmed Chebil, Daniel Schorderet, Leila El Matri
Genes (Basel) 2021 Nov; 12(11): 1795. Published online 2021 Nov 15. doi: 10.3390/genes12111795
PMCID:
PMC8618989
ArticlePubReaderPDF–12MCite
11.
Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report
Wen-Cong Ruan, Jia Wang, Yong-Lin Yu, Yue-Ping Che, Li Ding, Chen-Xi Li, Xiao-Dong Wang, Hai-Feng Li
BMC Med Genet. 2020; 21: 51. Published online 2020 Mar 14. doi: 10.1186/s12881-020-0988-3
PMCID:
PMC7071676
ArticlePubReaderPDF–1.1MCite
12.
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
Maartje Pennings, Meyke I. Schouten, Judith van Gaalen, Rowdy P. P. Meijer, Susanne T. de Bot, Marjolein Kriek, Christiaan G. J. Saris, Leonard H. van den Berg, Michael A. van Es, Dick M. H. Zuidgeest, Mariet W. Elting, Jiddeke M. van de Kamp, Karin Y. van Spaendonck-Zwarts, Christine de Die-Smulders, Eva H. Brilstra, Corien C. Verschuuren, Bert B. A. de Vries, Jacques Bruijn, Kalliopi Sofou, Floor A. Duijkers, B. Jaeger, Jolanda H. Schieving, Bart P. van de Warrenburg, Erik-Jan Kamsteeg
Eur J Hum Genet. 2020 Jan; 28(1): 40–49. Published online 2019 Sep 5. doi: 10.1038/s41431-019-0497-z
PMCID:
PMC6906463
ArticlePubReaderPDF–947KCite
13.
ZFYVE26/SPASTIZIN and SPG11/SPATACSIN mutations in hereditary spastic paraplegia types AR-SPG15 and AR-SPG11 have different effects on autophagy and endocytosis
Chiara Vantaggiato, Elena Panzeri, Marianna Castelli, Andrea Citterio, Alessia Arnoldi, Filippo Maria Santorelli, Rocco Liguori, Marina Scarlato, Olimpia Musumeci, Antonio Toscano, Emilio Clementi, Maria Teresa Bassi
Autophagy. 2019; 15(1): 34–57. Published online 2018 Sep 13. doi: 10.1080/15548627.2018.1507438
PMCID:
PMC6287682
ArticlePubReaderPDF–5.5MCite
14.
Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11
Allen Chi-Shing Yu, Anne Yin-Yan Chan, Wing Chi Au, Yun Shen, Ting Fung Chan, Ho-Yin Edwin Chan
Cold Spring Harb Mol Case Stud. 2016 Nov; 2(6): a001248. doi: 10.1101/mcs.a001248
PMCID:
PMC5111012
ArticlePubReaderPDF–967KCite
15.
SPG7 mutations explain a significant proportion of French Canadian spastic ataxia cases
Karine Choquet, Martine Tétreault, Sharon Yang, Roberta La Piana, Marie- Josée Dicaire, Megan R Vanstone, Jean Mathieu, Jean-Pierre Bouchard, Marie-France Rioux, Guy A Rouleau, Care4Rare Canada Consortium, Kym M Boycott, Jacek Majewski, Bernard Brais
Eur J Hum Genet. 2016 Jul; 24(7): 1016–1021. Published online 2015 Dec 2. doi: 10.1038/ejhg.2015.240
PMCID:
PMC5070891
ArticlePubReaderPDF–1.0MCite
16.
Motor protein mutations cause a new form of hereditary spastic paraplegia
Andrés Caballero Oteyza, Esra Battaloğlu, Levent Ocek, Tobias Lindig, Jennifer Reichbauer, Adriana P. Rebelo, Michael A. Gonzalez, Yasar Zorlu, Burcak Ozes, Dagmar Timmann, Benjamin Bender, Günther Woehlke, Stephan Züchner, Ludger Schöls, Rebecca Schüle
Neurology. 2014 Jun 3; 82(22): 2007–2016. doi: 10.1212/WNL.0000000000000479
PMCID:
PMC4105256
ArticlePubReaderPDF–1.0MCite
17.
Genetic mapping of a susceptibility locus for disc herniation and spastic paraplegia on 6q23.3-q24.1
M Zortea, A Vettori, C Trevisan, S Bellini, G Vazza, M Armani, A Simonati, M Mostacciuolo
J Med Genet. 2002 Jun; 39(6): 387–390. doi: 10.1136/jmg.39.6.387
PMCID:
PMC1735154
SummaryPDF–102KCite
18.
A new locus for autosomal recessive hereditary spastic paraplegia maps to chromosome 16q24.3.
G De Michele, M De Fusco, F Cavalcanti, A Filla, R Marconi, G Volpe, A Monticelli, A Ballabio, G Casari, S Cocozza
Am J Hum Genet. 1998 Jul; 63(1): 135–139. doi: 10.1086/301930
PMCID:
PMC1377251
SummaryPDF–329KCite
19.
Loss of ap4s1 in zebrafish leads to neurodevelopmental defects resembling spastic paraplegia 52
Angelica D’Amore, Alessandra Tessa, Valentina Naef, Maria Teresa Bassi, Andrea Citterio, Romina Romaniello, Gianluca Fichi, Daniele Galatolo, Serena Mero, Roberta Battini, Giulia Bertocci, Jacopo Baldacci, Federico Sicca, Federica Gemignani, Ivana Ricca, Anna Rubegni, Jennifer Hirst, Maria Marchese, Mustafa Sahin, Darius Ebrahimi‐Fakhari, Filippo M. Santorelli
Ann Clin Transl Neurol. 2020 Apr; 7(4): 584–589. Published online 2020 Mar 25. doi: 10.1002/acn3.51018
PMCID:
PMC7187712
ArticlePubReaderPDF–440KCite
20.
AMFR dysfunction causes autosomal recessive spastic paraplegia in human that is amenable to statin treatment in a preclinical model
Ruizhi Deng, Eva Medico-Salsench, Anita Nikoncuk, Reshmi Ramakrishnan, Kristina Lanko, Nikolas A. Kühn, Herma C. van der Linde, Sarah Lor-Zade, Fatimah Albuainain, Yuwei Shi, Soheil Yousefi, Ivan Capo, Evita Medici van den Herik, Marjon van Slegtenhorst, Rick van Minkelen, Geert Geeven, Monique T. Mulder, George J. G. Ruijter, Dieter Lütjohann, Edwin H. Jacobs, Henry Houlden, Alistair T. Pagnamenta, Kay Metcalfe, Adam Jackson, Siddharth Banka, Lenika De Simone, Abigail Schwaede, Nancy Kuntz, Timothy Blake Palculict, Safdar Abbas, Muhammad Umair, Mohammed AlMuhaizea, Dilek Colak, Hanan AlQudairy, Maysoon Alsagob, Catarina Pereira, Roberta Trunzo, Vasiliki Karageorgou, Aida M. Bertoli-Avella, Peter Bauer, Arjan Bouman, Lies H. Hoefsloot, Tjakko J. van Ham, Mahmoud Issa, Maha S. Zaki, Joseph G. Gleeson, Rob Willemsen, Namik Kaya, Stefan T. Arold, Reza Maroofian, Leslie E. Sanderson, Tahsin Stefan Barakat
Acta Neuropathol. 2023; 146(2): 353–368. Published online 2023 Apr 29. doi: 10.1007/s00401-023-02579-9
PMCID:
PMC10328903
ArticlePubReaderPDF–10MCite

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