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Items: 1 to 20 of 49

1.
Mutations in the Mitochondrial Methionyl-tRNA Synthetase Cause a Neurodegenerative Phenotype in Flies and a Recessive Ataxia (ARSAL) in Humans
Vafa Bayat, Isabelle Thiffault, Manish Jaiswal, Martine Tétreault, Taraka Donti, Florin Sasarman, Geneviève Bernard, Julie Demers-Lamarche, Marie-Josée Dicaire, Jean Mathieu, Michel Vanasse, Jean-Pierre Bouchard, Marie-France Rioux, Charles M. Lourenco, Zhihong Li, Claire Haueter, Eric A. Shoubridge, Brett H. Graham, Bernard Brais, Hugo J. Bellen
PLoS Biol. 2012 Mar; 10(3): e1001288. Published online 2012 Mar 20. doi: 10.1371/journal.pbio.1001288
PMCID:
PMC3308940
AbstractArticlePDF–1.3M
2.
Vitamin D3 deficiency and osteopenia in spastic paraplegia type 5 indicate impaired bone homeostasis
Sabrina Ehnert, Stefan Hauser, Holger Hengel, Philip Höflinger, Rebecca Schüle, Tobias Lindig, Jonathan Baets, Tine Deconinck, Peter de Jonghe, Tina Histing, Andreas K. Nüssler, Ludger Schöls, Tim W. Rattay
Sci Rep. 2024; 14: 7335. Published online 2024 Mar 27. doi: 10.1038/s41598-024-53057-5
PMCID:
PMC10973513
AbstractArticlePDF–1.0M
3.
A TTC19 mutation associated with progressive movement disorders and peripheral neuropathy: Case report and systematic review
Xianjun Xuan, Jie Ruan, Chunhong Wu, Yiyi Gao, Lingfei Li, Xiaoguang Lei
CNS Neurosci Ther. 2024 Mar; 30(3): e14425. Published online 2023 Nov 6. doi: 10.1111/cns.14425
PMCID:
PMC10948947
AbstractArticlePDF–2.7M
4.
Expanding the allelic spectrum of ELOVL4‐related autosomal recessive neuro‐ichthyosis
Fatima Alabdulrazzaq, Talal Alanzi, Haya H. Al‐Balool, Alice Gardham, Emma Wakeling, Harry G. Leitch, Moeenaldeen AlSayed, Maha Abdulrahim, Abdulaziz Aladwani, Antonio Romito, Kapil Kampe, Sacha Ferdinandusse, Ashraf H. Aboelanine, Amira Abdullah, Amal Alwadani, Laila Bastaki, Frédéric M. Vaz, Aida M. Bertoli‐Avella, Dana Marafi
Mol Genet Genomic Med. 2023 Dec; 11(12): e2256. Published online 2023 Aug 18. doi: 10.1002/mgg3.2256
PMCID:
PMC10724518
AbstractArticlePDF–2.2M
5.
A SACS deletion variant in Great Pyrenees dogs causes autosomal recessive neuronal degeneration
Kari J. Ekenstedt, Katie M. Minor, G. Diane Shelton, James J. Hammond, Andrew D. Miller, Susan M. Taylor, Yanyun Huang, James R. Mickelson
Hum Genet. 2023; 142(11): 1587–1601. Published online 2023 Sep 27. doi: 10.1007/s00439-023-02599-1
PMCID:
PMC10602964
AbstractArticlePDF–3.5M
6.
Biallelic DDHD2 mutations in patients with adult‐onset complex hereditary spastic paraplegia
Ying‐Tsen Chou, Shao‐Lun Hsu, Yu‐Shuen Tsai, Yi‐Jiun Lu, Kai‐Wei Yu, Hsiu‐Mei Wu, Yi‐Chu Liao, Yi‐Chung Lee
Ann Clin Transl Neurol. 2023 Sep; 10(9): 1603–1612. Published online 2023 Jul 7. doi: 10.1002/acn3.51850
PMCID:
PMC10502669
AbstractArticlePDF–1.6M
7.
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis
Seyed-Mohammad Fereshtehnejad, Philip A. Saleh, Lais M. Oliveira, Neha Patel, Suvorit Bhowmick, Gerard Saranza, Lorraine V. Kalia
Neurol Sci. 2023; 44(3): 947–959. Published online 2022 Nov 28. doi: 10.1007/s10072-022-06516-8
PMCID:
PMC9925593
AbstractArticlePDF–2.3M
8.
A novel compound heterozygous SPG7 variant is associated with progressive spastic ataxia and persecutory delusions found in Chinese patients: two case reports
Shan Wang, Yaye Wang, Yue Wu, Jinru Zhang, Weilin Zhang, Chang Li, Xueqin Song
BMC Neurol. 2022; 22: 200. Published online 2022 May 30. doi: 10.1186/s12883-022-02706-1
PMCID:
PMC9150360
AbstractArticlePDF–2.0M
9.
Positive DAT-SCAN in SPG7: a case report mimicking possible MSA-C
Gabriele Bellini, Eleonora Del Prete, Elisa Unti, Daniela Frosini, Gabriele Siciliano, Roberto Ceravolo
BMC Neurol. 2021; 21: 328. Published online 2021 Aug 25. doi: 10.1186/s12883-021-02345-y
PMCID:
PMC8386044
AbstractArticlePDF–1.6M
10.
Assessment of Whole-Brain White Matter by DTI in Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay
K.K. Oguz, G. Haliloglu, C. Temucin, R. Gocmen, A.C. Has, K. Doerschner, A. Dolgun, M. Alikasifoglu
AJNR Am J Neuroradiol. 2013 Oct; 34(10): 1952–1957. doi: 10.3174/ajnr.A3488
PMCID:
PMC7965424
AbstractArticlePDF–1.8M
11.
Expanding the clinical and genetic heterogeneity of SPAX5
Claudia Dosi, Daniele Galatolo, Anna Rubegni, Stefano Doccini, Rosa Pasquariello, Claudia Nesti, Federico Sicca, Melissa Barghigiani, Roberta Battini, Alessandra Tessa, Filippo M. Santorelli
Ann Clin Transl Neurol. 2020 Apr; 7(4): 595–601. Published online 2020 Apr 1. doi: 10.1002/acn3.51024
PMCID:
PMC7187698
AbstractArticlePDF–1.2M
12.
VPS13D‐related disorders presenting as a pure and complicated form of hereditary spastic paraplegia
Kishin Koh, Hiroyuki Ishiura, Haruo Shimazaki, Michiko Tsutsumiuchi, Yuta Ichinose, Haitian Nan, Shun Hamada, Toshihisa Ohtsuka, Shoji Tsuji, Yoshihisa Takiyama
Mol Genet Genomic Med. 2020 Mar; 8(3): e1108. Published online 2019 Dec 26. doi: 10.1002/mgg3.1108
PMCID:
PMC7057107
AbstractArticlePDF–486K
13.
Bi-allelic variants in RNF170 are associated with hereditary spastic paraplegia
Matias Wagner, Daniel P. S. Osborn, Ina Gehweiler, Maike Nagel, Ulrike Ulmer, Somayeh Bakhtiari, Rim Amouri, Reza Boostani, Faycal Hentati, Maryam M. Hockley, Benedikt Hölbling, Thomas Schwarzmayr, Ehsan Ghayoor Karimiani, Christoph Kernstock, Reza Maroofian, Wolfgang Müller-Felber, Ege Ozkan, Sergio Padilla-Lopez, Selina Reich, Jennifer Reichbauer, Hossein Darvish, Neda Shahmohammadibeni, Abbas Tafakhori, Katharina Vill, Stephan Zuchner, Michael C. Kruer, Juliane Winkelmann, Yalda Jamshidi, Rebecca Schüle
Nat Commun. 2019; 10: 4790. Published online 2019 Oct 21. doi: 10.1038/s41467-019-12620-9
PMCID:
PMC6803694
AbstractArticlePDF–2.1M
14.
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia
Martina Minnerop, Delia Kurzwelly, Holger Wagner, Anne S Soehn, Jennifer Reichbauer, Feifei Tao, Tim W Rattay, Michael Peitz, Kristina Rehbach, Alejandro Giorgetti, Angela Pyle, Holger Thiele, Janine Altmüller, Dagmar Timmann, Ilker Karaca, Martina Lennarz, Jonathan Baets, Holger Hengel, Matthis Synofzik, Burcu Atasu, Shawna Feely, Marina Kennerson, Claudia Stendel, Tobias Lindig, Michael A Gonzalez, Rüdiger Stirnberg, Marc Sturm, Sandra Roeske, Johanna Jung, Peter Bauer, Ebba Lohmann, Stefan Herms, Stefanie Heilmann-Heimbach, Garth Nicholson, Muhammad Mahanjah, Rajech Sharkia, Paolo Carloni, Oliver Brüstle, Thomas Klopstock, Katherine D Mathews, Michael E Shy, Peter de Jonghe, Patrick F Chinnery, Rita Horvath, Jürgen Kohlhase, Ina Schmitt, Michael Wolf, Susanne Greschus, Katrin Amunts, Wolfgang Maier, Ludger Schöls, Peter Nürnberg, Stephan Zuchner, Thomas Klockgether, Alfredo Ramirez, Rebecca Schüle
Brain. 2017 Jun; 140(6): 1561–1578. Published online 2017 Apr 27. doi: 10.1093/brain/awx095
Correction in:
Brain. 2018 Mar; 141(3): e21.
PMCID:
PMC6402316
AbstractArticlePDF–1.1M
15.
Overcoming the Divide Between Ataxias and Spastic Paraplegias: Shared Phenotypes, Genes, and Pathways
Matthis Synofzik, Rebecca Schüle
Mov Disord. Author manuscript; available in PMC 2018 Dec 10.
Published in final edited form as: Mov Disord. 2017 Mar; 32(3): 332–345. Published online 2017 Feb 14. doi: 10.1002/mds.26944
PMCID:
PMC6287914
AbstractArticlePDF–601K
16.
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
17.
Case series of autosomal recessive hereditary spastic paraparesis with novel mutation in SPG 7 gene
Shakya Bhattacharjee, Nicholas Beauchamp, Brian E. Murray, Timothy Lynch
Neurosciences (Riyadh) 2017 Oct; 22(4): 303–307. doi: 10.17712/nsj.2017.4.20170253
PMCID:
PMC5946381
AbstractArticlePDF–696K
18.
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Marie Coutelier, Monia B. Hammer, Giovanni Stevanin, Marie-Lorraine Monin, Claire-Sophie Davoine, Fanny Mochel, Pierre Labauge, Claire Ewenczyk, Jinhui Ding, J. Raphael Gibbs, Didier Hannequin, Judith Melki, Annick Toutain, Vincent Laugel, Sylvie Forlani, Perrine Charles, Emmanuel Broussolle, Stéphane Thobois, Alexandra Afenjar, Mathieu Anheim, Patrick Calvas, Giovanni Castelnovo, Thomas de Broucker, Marie Vidailhet, Antoine Moulignier, Robert T. Ghnassia, Chantal Tallaksen, Cyril Mignot, Cyril Goizet, Isabelle Le Ber, Elisabeth Ollagnon-Roman, Jean Pouget, Alexis Brice, Andrew Singleton, Alexandra Durr
JAMA Neurol. 2018 May; 75(5): 591–599. Published online 2018 Feb 26. doi: 10.1001/jamaneurol.2017.5121
PMCID:
PMC5885259
AbstractArticle
19.
Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism
Darius Ebrahimi-Fakhari, Afshin Saffari, Lara Wahlster, Jenny Lu, Susan Byrne, Georg F. Hoffmann, Heinz Jungbluth, Mustafa Sahin
Brain. 2016 Feb; 139(2): 317–337. Published online 2015 Dec 26. doi: 10.1093/brain/awv371
PMCID:
PMC5841365
AbstractArticlePDF–1.0M
20.
Late-onset spastic ataxia phenotype in a patient with a homozygous DDHD2 mutation
Hiroshi Doi, Masao Ushiyama, Takashi Baba, Katsuko Tani, Masaaki Shiina, Kazuhiro Ogata, Satoko Miyatake, Yoko Fukuda-Yuzawa, Shoji Tsuji, Mitsuko Nakashima, Yoshinori Tsurusaki, Noriko Miyake, Hirotomo Saitsu, Shu-ichi Ikeda, Fumiaki Tanaka, Naomichi Matsumoto, Kunihiro Yoshida
Sci Rep. 2014; 4: 7132. Published online 2014 Nov 24. doi: 10.1038/srep07132
PMCID:
PMC5384088
AbstractArticlePDF–733K

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