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Items: 1 to 20 of 26

1.
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
AbstractArticlePDF–817K
2.
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement
Sien H. Van Daele, Matthieu Moisse, Valérie Race, Amélie Van Eesbeeck, Liesbeth Keldermans, Sascha Vermeer, Hilde Van Esch, Kristl G. Claeys, Philip Van Damme
Eur J Neurol. 2022 Jan; 29(1): 345–349. Published online 2021 Sep 17. doi: 10.1111/ene.15091
PMCID:
PMC9290118
AbstractArticlePDF–670K
3.
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
V. A. Kadnikova, G. E. Rudenskaya, A. A. Stepanova, I. G. Sermyagina, O. P. Ryzhkova
Sci Rep. 2019; 9: 14412. Published online 2019 Oct 8. doi: 10.1038/s41598-019-50911-9
PMCID:
PMC6783457
AbstractArticlePDF–1.6M
4.
Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia
Carlo Rinaldi, Thomas Schmidt, Alan J. Situ, Janel O. Johnson, Philip R. Lee, Ke-lian Chen, Laura C. Bott, Rut Fadó, George H. Harmison, Sara Parodi, Christopher Grunseich, Benoît Renvoisé, Leslie G. Biesecker, Giuseppe De Michele, Filippo M. Santorelli, Alessandro Filla, Giovanni Stevanin, Alexandra Dürr, Alexis Brice, Núria Casals, Bryan J. Traynor, Craig Blackstone, Tobias S. Ulmer, Kenneth H. Fischbeck
JAMA Neurol. Author manuscript; available in PMC 2017 Sep 25.
Published in final edited form as: JAMA Neurol. 2015 May; 72(5): 561–570. doi: 10.1001/jamaneurol.2014.4769
Correction in:
JAMA Neurol. 2015 May; 72(5): 608.
PMCID:
PMC5612424
AbstractArticlePDF–1.3M
5.
LMNB1‐related autosomal‐dominant leukodystrophy: Clinical and radiological course
Johannes Finnsson, Jimmy Sundblom, Niklas Dahl, Atle Melberg, Raili Raininko
Ann Neurol. 2015 Sep; 78(3): 412–425. Published online 2015 Jul 27. doi: 10.1002/ana.24452
PMCID:
PMC5054845
AbstractArticlePDF–1008K
6.
Multi-system neurological disease is common in patients with OPA1 mutations
P. Yu-Wai-Man, P.G. Griffiths, G.S. Gorman, C.M. Lourenco, A.F. Wright, M. Auer-Grumbach, A. Toscano, O. Musumeci, M.L. Valentino, L. Caporali, C. Lamperti, C.M. Tallaksen, P. Duffey, J. Miller, R.G. Whittaker, M.R. Baker, M.J. Jackson, M.P. Clarke, B. Dhillon, B. Czermin, J.D. Stewart, G. Hudson, P. Reynier, D. Bonneau, W. Marques, Jr, G. Lenaers, R. McFarland, R.W. Taylor, D.M. Turnbull, M. Votruba, M. Zeviani, V. Carelli, L.A. Bindoff, R. Horvath, P. Amati-Bonneau, P.F. Chinnery
Brain. 2010 Mar; 133(3): 771–786. Published online 2010 Feb 15. doi: 10.1093/brain/awq007
PMCID:
PMC2842512
AbstractArticlePDF–667K
7.
Spastic disorder in patients with hereditary multiple exostoses, but without spinal cord compression: a new syndrome?
G Hamann, M Zankl, K Schimrigk, R Kloss
J Med Genet. 1992 Jul; 29(7): 494–496.
PMCID:
PMC1016028
SummaryPage BrowsePDF–668K
8.
GRID1/GluD1 homozygous variants linked to intellectual disability and spastic paraplegia impair mGlu1/5 receptor signaling and excitatory synapses
Dévina C. Ung, Nicolas Pietrancosta, Elena Baz Badillo, Brigitt Raux, Daniel Tapken, Andjela Zlatanovic, Adrien Doridant, Ben Pode-Shakked, Annick Raas-Rothschild, Orly Elpeleg, Bassam Abu-Libdeh, Nasrin Hamed, Marie-Amélie Papon, Sylviane Marouillat, Rose-Anne Thépault, Giovanni Stevanin, Jonathan Elegheert, Mathieu Letellier, Michael Hollmann, Bertrand Lambolez, Ludovic Tricoire, Annick Toutain, Régine Hepp, Frédéric Laumonnier
Mol Psychiatry. 2024; 29(4): 1205–1215. Published online 2024 Feb 28. doi: 10.1038/s41380-024-02469-w
PMCID:
PMC11176079
AbstractArticlePDF–3.9M
9.
A novel ABCD1 gene mutation causes adrenomyeloneuropathy presenting with spastic paraplegia: A case report
Jinxin Liu, Xin Wang, Di Huang, Yuna Qi, Lei Xu, Yankun Shao
Medicine (Baltimore) 2024 Apr 19; 103(16): e37874. Published online 2024 Apr 19. doi: 10.1097/MD.0000000000037874
PMCID:
PMC11029984
AbstractArticlePDF–618K
10.
Upper motor neurons are a target for gene therapy and UCHL1 is necessary and sufficient to improve cellular integrity of diseased upper motor neurons
Barış Genç, Javier H. Jara, Santana S. Sanchez, Amiko K. B. Lagrimas, Oge Gozutok, Nuran Kocak, Yongling Zhu, P. Hande Özdinler
Gene Ther. Author manuscript; available in PMC 2022 Jun 2.
Published in final edited form as: Gene Ther. 2022 Apr; 29(3-4): 178–192. Published online 2021 Dec 2. doi: 10.1038/s41434-021-00303-4
PMCID:
PMC9018479
AbstractArticlePDF–3.3M
11.
L1 Syndrome Prenatal Diagnosis Supplemented by Functional Analysis of One L1CAM Gene Missense Variant
Ping Wang, Hong Liao, Quyou Wang, Hanbing Xie, He Wang, Mei Yang, Shanling Liu
Reprod Sci. 2022 Mar; 29(3): 768–780. Published online 2021 Dec 16. doi: 10.1007/s43032-021-00828-4
PMCID:
PMC8863719
AbstractArticlePDF–3.3M
12.
Evidence of mosaicism in SPAST variant carriers in four French families
Chloé Angelini, Cyril Goizet, Samia Ait Said, William Camu, Christel Depienne, Bénédicte Heron, Bophara Kol, Marine Guillaud-Bataille, Perrine Pennamen, Caroline Rooryck, Clarisse Scherer-Gagou, Laurène Tissier, Giovanni Stevanin, Eric Leguern, Guillaume Banneau
Eur J Hum Genet. 2021 Jul; 29(7): 1158–1163. Published online 2021 May 6. doi: 10.1038/s41431-021-00847-4
PMCID:
PMC8298572
AbstractArticlePDF–682K
13.
Novel FARS2 variants in patients with early onset encephalopathy with or without epilepsy associated with long survival
Giulia Barcia, Marlène Rio, Zahra Assouline, Coralie Zangarelli, Charles-Joris Roux, Pascale de Lonlay, Julie Steffann, Isabelle Desguerre, Arnold Munnich, Jean-Paul Bonnefont, Nathalie Boddaert, Agnès Rötig, Metodi D. Metodiev, Benedetta Ruzzenente
Eur J Hum Genet. 2021 Mar; 29(3): 533–538. Published online 2020 Nov 9. doi: 10.1038/s41431-020-00757-x
PMCID:
PMC7940479
AbstractArticlePDF–954K
14.
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
AbstractArticlePDF–1.1M
15.
Adaptor protein complex 4 deficiency: a paradigm of childhood-onset hereditary spastic paraplegia caused by defective protein trafficking
Robert Behne, Julian Teinert, Miriam Wimmer, Angelica D’Amore, Alexandra K Davies, Joseph M Scarrott, Kathrin Eberhardt, Barbara Brechmann, Ivy Pin-Fang Chen, Elizabeth D Buttermore, Lee Barrett, Sean Dwyer, Teresa Chen, Jennifer Hirst, Antje Wiesener, Devorah Segal, Andrea Martinuzzi, Sofia T Duarte, James T Bennett, Thomas Bourinaris, Henry Houlden, Agathe Roubertie, Filippo M Santorelli, Margaret Robinson, Mimoun Azzouz, Jonathan O Lipton, Georg H H Borner, Mustafa Sahin, Darius Ebrahimi-Fakhari
Hum Mol Genet. 2020 Jan 15; 29(2): 320–334. Published online 2020 Jan 9. doi: 10.1093/hmg/ddz310
PMCID:
PMC7001721
AbstractArticlePDF–2.4M
16.
SPG11 mutations cause widespread white matter and basal ganglia abnormalities, but restricted cortical damage
Ingrid Faber, Alberto Rolim Muro Martinez, Thiago Junqueira Ribeiro de Rezende, Carlos Roberto Martins, Jr., Melina Pazian Martins, Charles Marques Lourenço, Wilson Marques, Jr., Celeste Montecchiani, Antonio Orlacchio, Jose Luiz Pedroso, Orlando Graziani Povoas Barsottini, Íscia Lopes-Cendes, Marcondes Cavalcante França, Jr.
Neuroimage Clin. 2018; 19: 848–857. Published online 2018 Jun 9. doi: 10.1016/j.nicl.2018.05.031
PMCID:
PMC6008284
AbstractArticlePDF–1.0M
17.
Different Cerebellar Ataxia Phenotypes Associated with Mutations of the PNPLA6 Gene in Brazilian Patients with Recessive Ataxias
Hélio Afonso Ghizoni Teive, Carlos Henrique F. Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L. Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B. Seminara, Renato Puppi Munhoz
Cerebellum. Author manuscript; available in PMC 2018 Jun 1.
Published in final edited form as: Cerebellum. 2018 Jun; 17(3): 380–385. doi: 10.1007/s12311-017-0909-y
PMCID:
PMC5970027
AbstractArticlePDF–373K
18.
Spastic paraplegia-linked phospholipase PAPLA1 is necessary for development, reproduction, and energy metabolism in Drosophila
Martina Gáliková, Peter Klepsatel, Judith Münch, Ronald P. Kühnlein
Sci Rep. 2017; 7: 46516. Published online 2017 Apr 19. doi: 10.1038/srep46516
PMCID:
PMC5395975
AbstractArticlePDF–1.8M
19.
Targeted high throughput sequencing in hereditary ataxia and spastic paraplegia
Zafar Iqbal, Siri L. Rydning, Iselin M. Wedding, Jeanette Koht, Lasse Pihlstrøm, Aina H. Rengmark, Sandra P. Henriksen, Chantal M. E. Tallaksen, Mathias Toft
PLoS One. 2017; 12(3): e0174667. Published online 2017 Mar 31. doi: 10.1371/journal.pone.0174667
Correction in:
PLoS One. 2017; 12(10): e0186571.
PMCID:
PMC5375131
AbstractArticlePDF–1.9M
20.
Loss of strumpellin in the melanocytic lineage impairs the WASH Complex but does not affect coat colour
Benjamin J. Tyrrell, Emma F. Woodham, Heather J. Spence, Douglas Strathdee, Robert H. Insall, Laura M. Machesky
Pigment Cell Melanoma Res. 2016 Sep; 29(5): 559–571. Published online 2016 Sep 12. doi: 10.1111/pcmr.12506
PMCID:
PMC5082549
AbstractArticlePDF–2.6M

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