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Items: 1 to 20 of 22

1.
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
ArticlePDF–1.6M
2.
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
ArticlePDF–2.3M
3.
中国人群遗传性周围神经病的致病基因分布
刘 小璇, 段 晓慧, 张 朔, 孙 阿萍, 张 英爽, 樊 东升
Beijing Da Xue Xue Bao Yi Xue Ban. 2022 Oct 18; 54(5): 874–883. Chinese. Published online 2022 Sep 14. doi: 10.19723/j.issn.1671-167X.2022.05.015
PMCID:
PMC9568373
ArticlePDF–3.2M
4.
Case report: Novel compound heterozygous missense mutations in the DDHD2 gene in a Chinese patient associated with spastic paraplegia type 54
Xin Xu, Fen Lu, Senjie Du, Xiaoke Zhao, Hongying Li, Li Zhang, Jian Tang
Front Pediatr. 2022; 10: 997274. Published online 2022 Aug 26. doi: 10.3389/fped.2022.997274
PMCID:
PMC9458848
ArticlePDF–1.3M
5.
Clinical and molecular characterization of a large cohort of childhood onset hereditary spastic paraplegias
Gabriela Marchisio Giordani, Fabrício Diniz, Helena Fussiger, Carelis Gonzalez-Salazar, Karina Carvalho Donis, Fernando Freua, Roberta Paiva Magalhães Ortega, Julian Letícia de Freitas, Orlando Graziani Povoas Barsottini, Sergio Rosemberg, Fernando Kok, José Luiz Pedroso, Marcondes Cavalcante França, Jr, Jonas Alex Morales Saute
Sci Rep. 2021; 11: 22248. Published online 2021 Nov 15. doi: 10.1038/s41598-021-01635-2
PMCID:
PMC8593146
ArticlePDF–1.3M
6.
Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia
Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D'Amore, Kathrin Eberhardt, Barbara Brechmann, Marvin Ziegler, Dana M Jensen, Premsai Nagabhyrava, Gregory Geisel, Erin Carmody, Uzma Shamshad, Kira A. Dies, Christopher J Yuskaitis, Catherine L Salussolia, Daniel Ebrahimi-Fakhari, Toni S Pearson, Afshin Saffari, Andreas Ziegler, Stefan Kölker, Jens Volkmann, Antje Wiesener, David R Bearden, Shenela Lakhani, Devorah Segal, Anaita Udwadia-Hegde, Andrea Martinuzzi, Jennifer Hirst, Seth Perlman, Yoshihisa Takiyama, Georgia Xiromerisiou, Katharina Vill, William O Walker, Anju Shukla, Rachana Dubey Gupta, Niklas Dahl, Ayse Aksoy, Helene Verhelst, Mauricio R Delgado, Radka Kremlikova Pourova, Abdelrahim A Sadek, Nour M Elkhateeb, Lubov Blumkin, Alejandro J Brea-Fernández, David Dacruz-Álvarez, Thomas Smol, Jamal Ghoumid, Diego Miguel, Constanze Heine, Jan-Ulrich Schlump, Hendrik Langen, Jonathan Baets, Saskia Bulk, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Elizabeth Lim-Melia, Nur Aydinli, Yasemin Alanay, Omnia El-Rashidy, Sheela Nampoothiri, Chirag Patel, Christian Beetz, Peter Bauer, Grace Yoon, Mireille Guillot, Steven P Miller, Thomas Bourinaris, Henry Houlden, Laura Robelin, Mathieu Anheim, Abdullah S Alamri, Adel A H Mahmoud, Soroor Inaloo, Parham Habibzadeh, Mohammad Ali Faghihi, Anna C Jansen, Stefanie Brock, Agathe Roubertie, Basil T Darras, Pankaj B Agrawal, Filippo M Santorelli, Joseph Gleeson, Maha S Zaki, Sarah I Sheikh, James T Bennett, Mustafa Sahin
Brain. 2020 Oct; 143(10): 2929–2944. Published online 2020 Sep 26. doi: 10.1093/brain/awz307
Correction in:
Brain. 2021 Mar; 144(3): e33.
PMCID:
PMC7780481
ArticlePDF–1.4M
7.
Brain Magnetic Spectroscopy Imaging and Hereditary Spastic Paraplegia: A Focused Systematic Review on Current Landmarks and Future Perspectives
Marinela Vavla, Domenico Montanaro, Silvia Pizzighello, Francesca Frijia, Filippo Arrigoni, Alessandra Baratto, Gianluca Piccoli, Gabriella Paparella, Andrea Martinuzzi
Front Neurol. 2020; 11: 515. Published online 2020 Jul 14. doi: 10.3389/fneur.2020.00515
PMCID:
PMC7381200
ArticlePDF–581K
8.
Loss of DDHD2, whose mutation causes spastic paraplegia, promotes reactive oxygen species generation and apoptosis
Tomohiro Maruyama, Takashi Baba, Yuki Maemoto, Chikako Hara-Miyauchi, Minami Hasegawa-Ogawa, Hirotaka James Okano, Yuki Enda, Kei Matsumoto, Nagisa Arimitsu, Kazuki Nakao, Hiroshi Hamamoto, Kazuhisa Sekimizu, Takayo Ohto-Nakanishi, Hiroki Nakanishi, Takeshi Tokuyama, Shigeru Yanagi, Mitsuo Tagaya, Katsuko Tani
Cell Death Dis. 2018 Aug; 9(8): 797. Published online 2018 Jul 23. doi: 10.1038/s41419-018-0815-3
PMCID:
PMC6056544
ArticlePDF–2.7M
9.
Functional Contribution of the Spastic Paraplegia-Related Triglyceride Hydrolase DDHD2 to the Formation and Content of Lipid Droplets
Jordon M. Inloes, William B. Kiosses, Huajin Wang, Tobias C. Walther, Robert V. Farese, Jr., Benjamin F. Cravatt
Biochemistry. Author manuscript; available in PMC 2019 Feb 6.
Published in final edited form as: Biochemistry. 2018 Feb 6; 57(5): 827–838. Published online 2017 Dec 26. doi: 10.1021/acs.biochem.7b01028
PMCID:
PMC5854151
ArticlePDF–988K
10.
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
ArticlePDF–733K
11.
Defining the genetic basis of early onset hereditary spastic paraplegia using whole genome sequencing
Kishore R Kumar, G.M. Wali, Mahesh Kamate, Gautam Wali, André E Minoche, Clare Puttick, Mark Pinese, Velimir Gayevskiy, Marcel E Dinger, Tony Roscioli, Carolyn M. Sue, Mark J Cowley
Neurogenetics. 2016; 17(4): 265–270. Published online 2016 Sep 28. doi: 10.1007/s10048-016-0495-z
PMCID:
PMC5061846
ArticlePDF–1.7M
12.
Misregulation of a DDHD Domain-containing Lipase Causes Mitochondrial Dysfunction in Yeast
Pradeep Kumar Yadav, Ram Rajasekharan
J Biol Chem. 2016 Aug 26; 291(35): 18562–18581. Published online 2016 Jul 8. doi: 10.1074/jbc.M116.733378
PMCID:
PMC5000100
ArticlePDF–3.4M
13.
Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing
David S Lynch, Georgios Koutsis, Arianna Tucci, Marios Panas, Markella Baklou, Marianthi Breza, Georgia Karadima, Henry Houlden
Eur J Hum Genet. 2016 Jun; 24(6): 857–863. Published online 2015 Sep 16. doi: 10.1038/ejhg.2015.200
PMCID:
PMC4688955
ArticlePDF–859K
14.
Truncating mutation in intracellular phospholipase A1 gene (DDHD2) in hereditary spastic paraplegia with intellectual disability (SPG54)
Nuha Alrayes, Hussein Sheikh Ali Mohamoud, Musharraf Jelani, Saleem Ahmad, Nirmal Vadgama, Khadijah Bakur, Michael Simpson, Jumana Yousuf Al-Aama, Jamal Nasir
BMC Res Notes. 2015; 8: 271. Published online 2015 Jun 27. doi: 10.1186/s13104-015-1227-4
PMCID:
PMC4482296
ArticlePDF–1.2M
15.
The Alu-Rich Genomic Architecture of SPAST Predisposes to Diverse and Functionally Distinct Disease-Associated CNV Alleles
Philip M. Boone, Bo Yuan, Ian M. Campbell, Jennifer C. Scull, Marjorie A. Withers, Brett C. Baggett, Christine R. Beck, Christine J. Shaw, Pawel Stankiewicz, Paolo Moretti, Wendy E. Goodwin, Nichole Hein, John K. Fink, Moon-Woo Seong, Soo Hyun Seo, Sung Sup Park, Izabela D. Karbassi, Sat Dev Batish, Andrés Ordóñez-Ugalde, Beatriz Quintáns, María-Jesús Sobrido, Susanne Stemmler, James R. Lupski
Am J Hum Genet. 2014 Aug 7; 95(2): 143–161. doi: 10.1016/j.ajhg.2014.06.014
PMCID:
PMC4129405
ArticlePDF–4.0M
16.
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
John K. Fink
Acta Neuropathol. Author manuscript; available in PMC 2014 Jun 4.
Published in final edited form as: Acta Neuropathol. 2013 Sep; 126(3): 307–328. Published online 2013 Jul 30. doi: 10.1007/s00401-013-1115-8
PMCID:
PMC4045499
ArticlePDF–458K
17.
Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred
Loretta Racis, Eugenia Storti, Maura Pugliatti, Virgilio Agnetti, Alessandra Tessa, Filippo M Santorelli
BMC Med Genet. 2014; 15: 39. Published online 2014 Apr 1. doi: 10.1186/1471-2350-15-39
PMCID:
PMC3974227
ArticlePDF–682K
18.
Mutations in phospholipase DDHD2 cause autosomal recessive hereditary spastic paraplegia (SPG54)
Michael Gonzalez, Sheela Nampoothiri, Cornelia Kornblum, Andrés Caballero Oteyza, Jochen Walter, Ioanna Konidari, William Hulme, Fiorella Speziani, Ludger Schöls, Stephan Züchner, Rebecca Schüle
Eur J Hum Genet. 2013 Nov; 21(11): 1214–1218. Published online 2013 Mar 13. doi: 10.1038/ejhg.2013.29
PMCID:
PMC3798837
ArticlePDF–912K
19.
Mutations in DDHD2, Encoding an Intracellular Phospholipase A1, Cause a Recessive Form of Complex Hereditary Spastic Paraplegia
Janneke H.M. Schuurs-Hoeijmakers, Michael T. Geraghty, Erik-Jan Kamsteeg, Salma Ben-Salem, Susanne T. de Bot, Bonnie Nijhof, Ilse I.G.M. van de Vondervoort, Marinette van der Graaf, Anna Castells Nobau, Irene Otte-Höller, Sascha Vermeer, Amanda C. Smith, Peter Humphreys, Jeremy Schwartzentruber, FORGE Canada Consortium, Bassam R. Ali, Saeed A. Al-Yahyaee, Said Tariq, Thachillath Pramathan, Riad Bayoumi, Hubertus P.H. Kremer, Bart P. van de Warrenburg, Willem M.R. van den Akker, Christian Gilissen, Joris A. Veltman, Irene M. Janssen, Anneke T. Vulto-van Silfhout, Saskia van der Velde-Visser, Dirk J. Lefeber, Adinda Diekstra, Corrie E. Erasmus, Michèl A. Willemsen, Lisenka E.L.M. Vissers, Martin Lammens, Hans van Bokhoven, Han G. Brunner, Ron A. Wevers, Annette Schenck, Lihadh Al-Gazali, Bert B.A. de Vries, Arjan P.M. de Brouwer
Am J Hum Genet. 2012 Dec 7; 91(6): 1073–1081. doi: 10.1016/j.ajhg.2012.10.017
PMCID:
PMC3516595
ArticlePDF–764K
20.
Expanding the Clinical Spectrum of SPG11 Gene Mutations in Recessive Hereditary Spastic Paraplegia with Thin Corpus Callosum
Alice Abdel Aleem, Nourhan Abu-Shahba, Dominika Swistun, Jennifer Silhavy, Stephanie L. Bielas, Shifteh Sattar, Joseph G. Gleeson, Maha Zaki
Eur J Med Genet. Author manuscript; available in PMC 2011 Jul 1.
Published in final edited form as: Eur J Med Genet. 2011 Jan–Feb; 54(1): 82–85. Published online 2010 Nov 12. doi: 10.1016/j.ejmg.2010.10.006
PMCID:
PMC3073376
ArticlePDF–439K

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